THE EXPERIENCES AND DECISION MAKING PROCESSES OF COUPLES WITH A
CHILD WITH A CHILDHOOD GENETIC DISORDER
By
Kate Szubeczak McKee

A DISSERTATION
Submitted to
Michigan State University
in partial fulfillment of the requirements
for the degree of
Human Development and Family Studies – Doctor of Philosophy
2017

ABSTRACT
THE EXPERIENCES AND DECISION MAKING PROCESSES OF COUPLES WITH A
CHILD WITH A CHILDHOOD GENETIC DISORDER
By
Kate Szubeczak McKee
There is a disparity in the research between the individual’s and the family as a whole’s
interactional processes in the collection and dissemination of genetic information. There is a gap
in our understanding of how couples deal with genetic information, especially when a child is
diagnosed with an inherited genetic condition. Also, there is a lack of understanding of the
decision-making processes regarding genetic testing. Furthermore, medical professionals and
family therapists are becoming more aware of the effect these tests will have on family systems
and on the health beliefs of the family. Once a diagnosis has been received, families now have
the task of making sense of the diagnosis and deciding on how the family system needs to
change or adapt in order to accommodate the genetic disorder.
The purpose of this qualitative study was to understand the lived experiences of couples
who have a child suffering from a genetic disorder (affected child) and to understand the
couple’s experiences of receiving the diagnosis of an inherited genetic disorder in a child, and
how they as a couple, and by extension, their family, adapted to that diagnosis. Nine couples
from the Midwestern United States were interviewed using a semi-structured, joint interview
process. Using thematic analysis and the couples’ own words, two studies emerged from the
data. The focus of study 1 was on the decision-making processes about genetic testing and the
decision to have future children of couples who have a child with an inherited genetic disorder.

The focus of study 2 was on how the family adapted after receiving the diagnosis for their child.
Implications and further considerations for family therapists are addressed.

ACKNOWLEDGEMENTS
I would like to acknowledge my committee, Dr. Marsha Carolan, Dr. Ruben Parra
Cardona, Dr. Janet Osuch, and my advisor, Dr. Adrian Blow. Thank you for your guidance and
support during all of the challenging times. You each brought unique strengths and perspectives
that helped shape me as a researcher, and a person. For that, I will be forever grateful.
Thank you to all of the couples who participated in this study. Thank you for inviting me
into your homes, letting me meet your children and sharing your experiences, hardships, and
resilience. You are truly inspiring and remind me why I do the work that I do.
To all of the classmates I have had the privilege of learning, growing, and working
besides, you are my extended family and I would not have succeeded without you.
To my parents, Richard and Karen Szubeczak, thank you for being my first teachers, for
showing me how important experience is, and for showing me that marriage is hard work. Your
love and support help keep me going. To my sisters, Susan and Christine Szubeczak, I would do
anything for you and appreciate all of the laughter and tears that have helped me along in this
process. I feel truly blessed by the love and support from all of my family and friends over the
years and hope that I can return the favor.
To my husband, best friend, and hair shirt, Michael: I could not imagine God finding a
better partner for me to walk through this life with. This has been a tough journey. Thank you
for picking me up during my meltdowns and celebrating my victories with me. The first ten
years have been incredible, and I can’t wait to see what God has is store for us.
Finally, I would not be here if it were not by the grace of God, all praise and thanksgiving
belong to Him.

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TABLE OF CONTENTS
LIST OF TABLES ............................................................................................................ vii
CHAPTER 1: INTRODUCTION ...................................................................................... 1
Background of the Problem .....................................................................................1
Theoretical Framework ............................................................................................7
Family Systems Illness Model .....................................................................7
Family Systems Genetic Illness Model....................................................... 8
Research Questions ................................................................................................10
Rationale and Significance ....................................................................................10
CHAPTER 2: REVIEW OF LITERATURE ....................................................................12
Decision Making in the Family..............................................................................12
Risk, Family Decisions, and Genetics ...................................................................13
Reproductive Decision Making Related to Genetic Testing..................................15
Decisions About Genetic Testing in Children .......................................................17
Family Adaptation After Receiving a Diagnosis ...................................................19
Emotional Roller Coaster for Parents ....................................................................19
Activities to Manage the Diagnosis .......................................................................20
The Long Term Burden of a Genetic Diagnosis of a Child on Families ...............21
CHAPTER 3: RESEARCH DESIGN AND METHOD ...................................................23
Research Design.....................................................................................................23
Rationale for Qualitative Methodology .................................................................24
Thematic Analysis .................................................................................................25
Role of the Researcher, Biases, Credentials ..........................................................25
Participants .............................................................................................................26
Inclusion Criteria .......................................................................................26
Exclusion Criteria ......................................................................................26
Procedures ..............................................................................................................26
Data Collection ......................................................................................................28
Data Analysis .........................................................................................................28
Issues of Trustworthiness .......................................................................................29
CHAPTER 4: STUDY ONE “The Fear of Having Another Biological Child
Versus the Fear of Not Having Another Biological Child”: Decision
Making Among Couples With a Child Who Has a Childhood
Genetic Disorder ........................................................................................34
ABSTRACT ...........................................................................................................34
Introduction ............................................................................................................35
Background ............................................................................................................37
Decision Making in the Family..................................................................37

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Risk, Family Decisions, and Genetics ......................................................39
Reproductive Decision Making Related to Genetic Testing......................41
Decisions About Genetic Testing in Children ...........................................42
Purpose of the Study ..............................................................................................44
Methods..................................................................................................................45
Sample........................................................................................................45
Data Collection ..........................................................................................46
Data Analysis .............................................................................................46
Results ....................................................................................................................47
Evaluation of the Risks and Burdens for the Future ..................................47
Risks...............................................................................................47
Burdens ..........................................................................................50
Collecting Information to Inform Decision Making ..................................53
Discussion ..............................................................................................................55
Evaluation of Risks and Burdens ...............................................................55
Collecting Information to Inform Decision Making ..................................56
Couples Lack of Decision Making Processes ............................................57
Limitations .............................................................................................................59
Conclusion and Implications..................................................................................59
CHAPTER 5: STUDY TWO Couples’ Experiences in Family Adaptation After Their
Child Receives a Diagnosis of a Childhood Genetic Disorder ..................61
ABSTRACT ...........................................................................................................61
Introduction ............................................................................................................62
Background ............................................................................................................62
Emotional Rollercoaster for Parents ..........................................................62
Activities to Manage the Diagnosis ...........................................................63
The Long Term Burden of a Genetic Diagnosis on Families ....................64
Family Systems Illness Model ...................................................................65
Purpose of the Study ..............................................................................................65
Methods..................................................................................................................66
Sample........................................................................................................66
Data Collection ..........................................................................................67
Data Analysis .............................................................................................68
Results ....................................................................................................................69
Experiences of Diagnosis ...........................................................................69
Realizing the Permanence of the Condition:
Processes Leading to Acceptance ..................................................69
From Diagnosis to Acceptance: Processing
Loss and Redefining Normality .....................................................71
How Families Educated Themselves .........................................................74
Relationships With Health Professionals .......................................74
Personal Research ..........................................................................75
Facing and Overcoming Transitions ......................................................................76
Managing Relationship Imbalances ...........................................................76
Figuring Out Family Identity .....................................................................79

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Discussion .............................................................................................................79
Experiences of Diagnosis ...........................................................................80
How Families Educated Themselves .........................................................81
Facing and Overcoming Transitions ..........................................................81
Limitations .............................................................................................................82
Implications............................................................................................................83
Conclusion .............................................................................................................84
CHAPTER 6: CONCLUSION ..........................................................................................85
Contributions of the Current Studies to Existing Research ...................................85
Decision Making Processes of Families Regarding Genetic Testing ........85
Evaluation of the Risks and Burdens for the Future ......................85
Risks...............................................................................................86
Burdens ..........................................................................................86
Collecting Information to Inform Decision Making ......................87
Couples Lack of Decision Making Processes ................................87
Family Adaptation Process After a Diagnosis ...........................................89
Experiences of Diagnosis ...............................................................89
How Families Educated Themselves .............................................90
Facing and Overcoming Transitions ..............................................91
Implications for Clinical Practice of Marriage and Family Therapy .....................92
Future Considerations ............................................................................................94
APPENDIX ........................................................................................................................96
REFERENCES ..................................................................................................................99

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LIST OF TABLES
Table 1: Demographics Table ............................................................................................31

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CHAPTER 1: INTRODUCTION
Background of the Problem
Genetic testing in the United States started in an experimental laboratory the late 1950s
(Feetham & Thomson, 2006). Since the completion of the Human Genome Project in 2003,
genetic tests have become widely available, and at relatively low cost, for more than 1,000
genetic disorders (Feetham & Thomson, 2006). As the human genome is more completely
understood and new genetic tests are developed to detect both the predisposition to, and the
presence of, specific diseases, medical professionals and family therapists are becoming more
aware of the effect these tests will have on family systems and on health beliefs of the family.
Both the benefits and risks of genetic testing are high (Johnson, Wilkinson, & Taylor-Brown,
1999). Predictive genetic testing benefits couples by allowing them access to numerous
preemptive medical care options that they likely would not have otherwise known about.
Diagnostic genetic testing can confirm diagnoses and substantiate the appropriateness of targeted
therapy (Peterson, 2005).
Prenatal testing for genetic conditions/mutations is also available to individuals and
families. Examples of such testing include prenatal diagnosis (PND), performed using
amniocentesis during the first 10-18 weeks of pregnancy, and preimplantation genetic diagnosis
(PGD), performed before a woman becomes pregnant using in vitro fertilization (Dewanwala et
al., 2011). Several private PGD centers report that cystic fibrosis, hemoglobin disorders, and
muscular dystrophies are among the most common genetic disorders for which PGD is used
(Hershberger et al., 2012). In both cases, depending on the results, the couple can choose
whether to continue the pregnancy or whether to implant only unaffected embryos. Over 10,000

1

babies have been born worldwide after pre-implantation screening using PGD (KosickaSlawinska, Clarke, & Lashwood, 2013). With the help of testing procedures such as PND and
PGD, parents are able to gain a greater sense of control over the health and wellbeing of their
future children (Dewanwala et al., 2011). This sense of control can extend to the screening and
implantation of only unaffected embryos through IVF or by selective termination of the embryos
during the early weeks of pregnancy (Gotz & Gotz, 2006; Kelly, 2009; Myring et al., 2011).
The primary risk associated with all types of genetic testing is that such testing can reveal
information that may not be actionable by the couple. Said differently, even after receiving a
prediction or diagnosis, couples may not be able to act to change a likely outcome. This inability
to act can increase anxiety, alter family relationships, and result in both perceived and actual
discrimination and stigmatization (Street & Soldan, 1998; Van Riper & Gallo, 2006). For
couples who give birth to an affected child, this inability to act can take on a different meaning.
Parents of a child who has been referred for genetic testing or whose child has a genetic disorder
report an elevated level of anxiety due to the concern about the health and future of their child,
and upon receiving results indicating an abnormality, may feel worried, hopeless, and guilty
(Dinc & Terzioglu, 2006).
Not only must the parents of a child with a genetic disorder consider the time, energy,
and costs involved in the medical management of the genetic disorder; they also face other
potentially negative effects in multiple other areas including decreased self-esteem and selfworth of the diagnosed child, disruption of parent-affected child relationship, parent-unaffected
sibling relationship, or sibling-sibling relationships, along with an increase in parental anxiety
and guilt (Knafl, Knafl, Gallo, & Angst, 2007). Several studies have identified a number of
sources of stress for families who have a child with a genetic disorder, including a lack of

2

understanding of risk, lag time between genetic discoveries and available treatments, fear of loss
of privacy, stigma, and possible discrimination in employment, insurance reimbursement, or by
school systems (Knafl, Knafl, Gallo, & Angst, 2007; Kelly, 2009). Research has demonstrated
that once a child has been diagnosed with a genetic disorder there are numerous implications for
parental mental health and overall family functioning including parental feelings of denial,
anger, guilt, and depression (Jacobs & Deatrick, 1999), lower relationship and sexual satisfaction
(Quaid & Wesson, 1995), greater relationship strain (Manne et al., 2004) and the real and
perceived losses of child and family functioning with the diagnosis of a genetic disorder (Jacobs
and Deatrick, 1999). On average, families with a child with a disability face greater levels of
stress and dysfunction than other families (Collins & Williamson, 2003). However, little is
known about the role these factors play in parent decision-making about future pregnancies. The
proposed study seeks to understand the experiences of these parents with a genetic condition
diagnosis in one of their children, and the processes related to a couple’s decision-making about
future pregnancies.
In a study completed by D’Amico et al. (1992), the authors found that among couples
with previous experience of a child affected with genetic disease, a significantly higher
percentage (65.5%) of couples avoided further pregnancies as compared to couples who opted
for further reproduction (34.5%). Surprisingly, couples with a first affected deceased child were
far less likely (13.6%) to refrain from reproduction, and thereby more likely to reproduce. In a
similar study, the majority of parents of a child affected with a genetic disorder simply chose to
avoid future pregnancies, so as to avoid any decisions about prenatal screening or testing to
identify whether that child may be affected (Kelly, 2009). Although prenatal diagnosis and
preimplantation diagnosis are made available to families who are at high risk for genetic

3

abnormalities or who are carriers of genes that cause childhood onset disorders, many couples
choose not to test for a number of personal, ethical, or religious reasons. Based on feelings of
guilt or disrespect for the first-born, in the case of selective termination, or if the parents are
unsure of whether they could make a decision about termination, many parents prefer to choose
not to test and thereby wait and see if their child is affected (Gotz & Gotz, 2006). To the
contrary, a study done of parents of children diagnosed with cystic fibrosis (CF) (Ormond et al.,
2007) found that the majority of parents were likely to pursue (or had already pursued) future
pregnancies. In fact, the initial experience of diagnosis and care of a child with CF lessened any
anxiety about caring for future children with CF.
An additional study found that when parents perceived a medical test as a genetic test, the
condition at issue was perceived as uncontrollable and threatening. This implies that perceptions
of a self-regulation model of illness are involved. Said differently, how people think about a
disease is determined by the label that the disease is given (Senior, Marteau, & Peters, 1999).
Some couples consider genetic testing terrifying. It makes sense then that these couples are less
likely to pursue such testing. Many other couples pursue access to genetic tests as those tests
become commercially available (Campbell & Ross, 2005). Nevertheless, the methodology used
by parents to arrive at decisions regarding future pregnancies is unclear. The proposed study
seeks to understand what variables contribute to a couple’s decision about pursuing future
pregnancies in view of an existing disorder.
There is a disparity in the research between the individual’s and the family as a whole’s
interactional processes in the collection and dissemination of genetic information. The lack of
understanding between the psychological processes between the individual versus the family,
places families at an increased risk for altered relationships (Feetham & Thomson, 2006). It is

4

known that potential stigma exists in families regarding genetic illnesses. Many times
information is shared within a family based on relationship proximity, and not based genetic risk
(Campbell & Ross, 2005). Some studies have begun to address the role that extended family
members play in the coping and management of a child with a genetic disorder, as well as in the
decision making processes of the couple. With regards to how families and individuals mutually
influence each other (Feetham & Thomson, 2006; Bubolz & Sontag, 1993), and can affect an
individual’s interpretation and response to genetic information (McDaniel, Rolland, Feetham, &
Miller, 2006), one study suggested that family functioning depended less on the specific genetic
condition identified and more on the patterns of family response to the psychosocial challenges
of having a child with a genetic condition (Knafl, Knafl, Gallo, & Angst, 2007).
Once a couple decides to proceed with genetic testing, their primary care physician or
other medical specialist can order the test. Before the couple has a genetic test they are typically
referred to a genetic counselor. The role of the genetic counselor is to help the couple understand
the testing procedure, the benefits and limitations of the genetic test and the possible
consequences of the test result. To be more specific, according to the National Society of Genetic
Counselors website (www.nsgc.org), “genetic counseling is the process of helping people
understand and adapt to the medical, psychological, and familial implications of genetic
contributions to disease”. Families meet with a genetic counselor once or twice, discuss family
history, discuss options for genetic testing and what the results may mean, and review the test
results. The families are then are referred back to their primary care physician or to a specialist
for future treatment.
Unfortunately, a quick review with a genetic counselor and primary care physician is
typically not sufficient to fully process all of the emotions, facts, and processes related to the

5

outcome of the testing. In fact, it is well recognized that “as the technology of medical genetics
surges forward, the emotional needs of families often get left in the wake. Families are often left
on their own to find important information and support, and for many, the Internet is the only
place to turn” (p. 454, Wamboldt). Said differently, if families are still seeking information after
meeting with the genetic counselor or have not had all of their questions answered, the families
are typically left on their own to find it. This can be particularly harmful not only because
inaccurate information can be found, but also because accurate information is many times not
appropriately decipherable by the family. Findings from one study suggest that a therapy
approach to genetic counseling may be key to family and child functioning (Knafl, Knafl, Gallo,
& Angst, 2007). This therapy would focus on facilitating communication and problem-solving
within the family rather than just disseminating information to other family members. In
addition, this therapy would also seek to answer some of the potentially unanswered questions
generated by the families after meeting with the genetic counselor and/or primary care physician.
Research is still needed to study the family management of genetic information and
subsequent treatment (McDaniel, Rolland, Feetham, & Miller, 2006). The current study seeks to
address how couples and families have previously communicated about and currently
communicate, about genetic information, how these couples and families cope with negative
genetic test results, and what role the medical system has played in the family management of
genetic information.
Given that each individual in the couple brings his/her own belief systems and
multigenerational history of coping with illness, loss, and other adversity, the purpose of this
qualitative study is to understand the lived experiences of couples living in the Midwestern
United States who have a child suffering from a genetic disorder (affected child). In addition,

6

this study explored how the couple views future family planning and related health care
decisions. In this study, the affected child will be defined as a child who has been diagnosed with
a genetic disorder that “causes significant morbidity and mortality” (p. 549, Dewanwala, 2011).
Theoretical Framework
Family Systems Illness Model
The Family Systems Illness Model (FSI) provides a systemic framework for assessing the
interaction of a disease or illness with an individual and the family system (Rolland, 1987b). The
model emphasizes the interface between time, relative to disease progression and family
developmental phases, illness type, and components of family functioning (Rolland, 1987a). Not
unlike Bronfenbrenner’s Ecology Theory (Bubolz & Sontag, 1993), the FSI model highlights the
interactive nature between the type of illness/disability/loss, the individual, family, and illness
life cycles and the family’s ability to cope. This model also highlights the family’s belief
systems, culture, ethnicity, spirituality, and gender, wherein each one is nested in the other
(Rolland & Williams, 2006). The FSI model was originally developed to provide a framework
for psychosocial types of chronic illness and disability before there was a need to include a
genetic component of illnesses. The typologies for genetic disorders that will be used in this
study are described in detail below as related to the Family Systems Genetic Illness model.
Having an understanding of the family system’s reaction, behavior, and adaptation to illness over
time and in relationship to different points in the family life cycle, is crucial for the practitioner
to help the family to navigate current and future illness crises (Rolland, 1987a; Rolland &
Williams, 2006). There are four key elements of the family illness belief system: 1) the family’s
sense of mastery and control over the illness; 2) the family’s multigenerational evolutionary

7

process with illness, loss, and crisis; 3) the family’s ethnic, cultural, and religious beliefs; and 4)
the family’s assumptions about the etiology of illness (Rolland, 1987b).
Family Systems Genetic Illness Model
Until recently, none of the health behavior models could accurately capture the
experience of families and individuals as they went through the process of predictive genetic
testing. In 2005, Rolland and Williams developed the Family Systems Genetic Illness Model
(FSGI) to describe the course of genetic testing and to be used in conjunction with the FSI model
(Rolland & Williams, 2005; Rolland & Williams, 2006). Based on a systemic framework, the
FSGI model helps organize thinking about the interaction between genetic testing, important
family and social networks, and the professionals involved in providing care (Rolland &
Williams, 2006). This model was the first model to emphasize the genetic component of health
and uniquely included the nonsymptomatic and symptomatic phases of a disease, as well as the
interaction between individual and family life cycles (Rolland & Williams, 2006).
One particularly unique portion of the FSGI model is the creation of a psychosocial
typology of genomic disorders. This typology classifies different categories of genomic disorders
across several dimensions: 1) likelihood of developing a condition based on genetic mutations;
2) overall clinical severity; 3) timing of clinical onset in the life cycle; and 4) whether effective
treatment interventions exist that can alter clinical onset of progression (Rolland & Williams,
2005). These four dimensions play an integral role in how a family or individual decides whether
to pursue genetic testing, and how they may cope with the results. Some genetic conditions
currently included in this typology are breast cancer, Huntington’s disease, Hemophilia, TaySachs disease, Hemochromatosis, and Alzheimer’s disease. These diseases are examples of those
in which genetic mutations or alterations contribute to the expression of the disease and for

8

which predictive, pre-symptomatic, or carrier testing is available (Rolland & Williams, 2005;
Rolland & Williams, 2006).
Another unique aspect of the FSGI model is the addition of a time element. Rolland and
Williams (2005) discuss the importance of addressing time and state that, “we need a model that
considers the unfolding of illness-related developmental tasks over the entire course of a
disorder” (p. 5). This element of time not only addresses the onset and course of illness
throughout a lifetime, but, with the availability of genetic testing, the FSGI model adds another
dimension of time, i.e., the time associated with the nonsymptomatic phases of a (potential)
genetic illness. The FSGI model explains that the nonsymptomatic phases are the phases before a
person decides to pursue genetic testing. The nonsymptomatic phases are awareness, crisis I
pretesting, crisis II test/posttesting, and long-term adaptation (Rolland & Williams, 2005;
Rolland & Williams 2006). In the awareness phase, families are aware of a possible genetic risk
or mutation associated with having a child, but are not interested in any kind of testing at the
time. In the crisis I pretesting phase, the family is actively considering genetic testing. The
decision to test can coincide with major life transitions (e.g. the decision to get married or to
have children). The decision to test can also coincide with a life assessment, such as the
realization that a person is the same age as a close relative that suffered, or died, from a
particular genetic disease. These types of decisions can be revisited several times. It is during the
crisis II test/post-testing phase that families have decided to test, and must adapt and grieve
depending on the results of the tests. The final phase, long-term adaptation, is the time span
between receiving a positive test result and the time in which the condition manifests.

9

Research Questions
Based on the literature reviewed above, the following research questions were used to guide this
study.
1.) What were participant experiences with the medical system before, during, and after the
genetic testing process for their affected child?
2.) How did the diagnosis and related medical system interfaces affect individuals in their
roles as spouses/parents?
3.) How did the diagnosis in their child affect medical decision-making processes of the
couple, especially around having additional children?
4.) What types of supports and resources did the couple utilize as they moved through

the

diagnosis and related decision making processes?
Rationale and Significance
The rationale for this study is derived from the researcher’s desire to assist couples as
they navigate the decision making processes associated with genetic testing of any embryo after
a couple already has one child with a genetic disorder, and recognize what information may be
needed to make decisions about future family planning in relation to the embryo. These couples
already have a child who has received a diagnosis of a genetic disorder and the couple may be
unsure whether to have additional children based on their experiences with their diagnosed child.
Family therapists and medical professionals will benefit from an increased understanding
of how couples communicate about genetic testing, the ramifications of receiving a positive test
result, and the role of extended family in the process. Therapists and professionals will also
benefit from better understanding how couples communicate about future family planning
decisions in the view of a positive test result. Furthermore, couples who are considering genetic

10

testing and family planning will also benefit from a greater understanding of the aforementioned
concepts as related to informed decision-making and family planning guidance.

11

CHAPTER 2: REVIEW OF LITERATURE
Decision Making in the Family
The family strongly influences health behaviors (Peterson, 2005; Rolland & Williams,
2005). For this reason, it is important to understand the process of decision making within the
couple related to their health behaviors. At a familial level, decision-making is a process of
reducing dissonance between and among family members (Bubolz & Sontag, 1993) and is the
central control system of family organization. This reduction of dissonance leads to less stress
and conflict around critical decisions. At its most basic, decision-making involves: 1) the
recognition of need for decision, 2) identifying and weighing acceptable alternatives, and 3)
selecting or mediating an alternative and facilitating its action (Paolucci, Hall, & Axinn, 1977).
From a different perspective, Hastie (2001) describes decision-making as involving three
components: 1) choice options and courses of actions; 2) beliefs about objective states,
processes, and events in the world, including outcomes states and means to achieve them; and 3)
desires, values or utilities that describe the consequences associated with the outcomes of each
action event combination. In addition, decisions can also carry meaning for individuals and
families in ways that may not make sense to others outside the family (Patel, Kaufman, &
Arocha, 2002). In short, the mutual decision making required by families, especially concerning
stressful issues, is complex, emotional, and often stressful.
In families, decision making can involve a seeming unlimited number of possible
outcomes (Bubolz & Sontag, 1993) and can be a complex process. Not only are families faced
with making many types of decisions (Bubolz & Sontag, 1993), but family decisions are also
influenced by the environment in which the family functions, which can either restrict decision

12

making or offer opportunities (Paolucci, Hall, & Axinn, 1977). In many instances, family
decisions involve group decisions (Bubolz & Sontag, 1993) and group decision-making
processes. Since family decisions are typically made by more than one family member, it is
necessary to analyze decision making from an ecological perspective, because each family
member is different, with a different psychological make-up. Moreover, each member brings
their unique experiences into the decision-making process, (Paolucci, Hall, & Axinn, 1977) uses
their own personal style of thinking to make their way through the decision-making process, with
different meanings for their experiences, values, expectations, and uses of information
(Anderson, 2007).
Risk, Family Decisions, and Genetics
There are two types of risk. A first type of risk is viewed negatively. Knowledge of this
type of risk constitutes a heightened awareness of potential unknown dangers or hazards that
then becomes a major source of anxiety within the family. A second type of risk is viewed
positively. Knowledge of this type of risk helps families predict the likelihood of events
occurring in the future and allows the family to feel empowered and more in control of their
actions and medical destiny (Hallowell et al., 2004). Both of these types of risk are evident in
families considering genetic testing. An understanding of genetic risks, both positive and
negative, is considered crucial for informed decision-making (Henneman, Marteau, &
Timmermans, 2008).
In addition, many family decisions are made under conditions of uncertainty and risk
(Bubolz & Sontag, 1993). The concept of risk is especially highlighted relative to predictive
genetic testing, where decisions of risk are paramount because the information gleaned from
such testing can drastically alter an individual’s sense of self, can change personal identities, and

13

can cause extreme anxiety and stress (Hallowell, Foster, Eeles, Ardern-Jones, & Watson, 2004).
Risk embodies aspects of ambiguity and uncertainty. When linked with genetic inheritance, risk
can be very difficult to deal with from a personal and familial perspective (Peters, Djurdjinovic,
& Baker, 1999).
Decision-making in families does not rely solely on one family member. Rather, the
decision is shared on some level by all family members (Paolucci, Hall, & Axinn, 1977). In
making decisions about whether, when, or how genetic information should be evaluated and
shared, the interests of both the individual being tested and those with whom they are genetically
linked must be considered (Van Riper & Gallo, 2006).
It is important to elicit each family member’s understanding of his or her genetic risk and
any previous health beliefs prior to beginning to convey risk information to the family (Peters,
Djurdjinovic, & Baker, 1999). Genetic testing and risk knowledge can disrupt core beliefs
(Rolland, 2006). Bartle-Haring and Gregory (2003) emphasize that the genetic testing decisionmaking process has a psychological impact on everyone who is genetically linked, and not just
on the proband (i.e., person of genetic interest). Several steps can be taken to communicate
genetic risk information within the family. First, it is important to construct an accurate family
history across generations (McCann et al., 2009). Second, genetic risk information given to one
member of the family should be circulated to the rest of the family members (Bowen, Bourcier,
Press, Lewis, & Burke, 2004). Third, decisions about what future genetic testing or healthcare
decisions should be discussed among family members (Bowen et al., 2004). Shared health beliefs
help family members find meaning in their illness experience, whether current or future, and help
guide decisions and actions (Rolland, 2006). Research indicates that families who discuss illness
and genetic risks as a family, are more likely to participate in genetic testing (McCann et al.,

14

2009). These discussions may also serve as social support functions to build relational bonds
and to facilitate coping among family members (Peterson, 2005).
Risk perception correlates with decision making about genetic testing (Lerman, Croyle,
Tercyak, & Hamann, 2002), and perceived risk can be more influential than objective risk
(Hiraki, Chen, Roberts, Cupples, & Green, 2009). Understanding perceived risks for complex
genetically based diseases can improve risk communication, optimize coping strategies, and
encourage the uptake of preventive health behaviors (Hiraki et al., 2009). Decision-making is not
merely dependent on obtaining accurate risk information for weighing pros and cons or to
resolve or mitigate risk (Anderson, 2007). Decision-making is a complex process that can
involve emotion based- and/or rational- modes of perceiving and responding to information
(Hopwood, 2000), and using these modes in the context of personal relationships (e.g. within
couples and families) and professional relationships (e.g. with doctors and genetic counselors)
(Anderson, 2007).
Reproductive Decision Making Related to Genetic Testing
Decisions to have children are usually not made solely by one individual, but typically as
part of a couple. When considering the potential genetic risks, couples often make these
reproductive decisions not in isolation, but with input from family members, health care workers
and others (Klitzman, Thorne, Williamson, Chung, & Marder, 2007). One study showed that
67% of the women made the decision to genetically test prenatally with their partners. However,
no women reported making the decision alone (Humphreys, Cappelli, Aronovitch, Allanson, &
Hunter 2008). Another study confirms that decision making concerning genetic testing is
primarily a joint enterprise within the couple (Kenen, Smith, Watkins, & Zuber-Pittore, 2000).
Genetic testing has made it possible to clarify uncertainties before or when making reproductive

15

decisions (Downing, 2005). However, the decisions that couples make in situations of genetic
risk are not based solely on risk information. Instead, these decisions are multifaceted and
depend on factors such as desired family size, perceived risk, social context, and personal
experiences with the genetic condition (Myring et al., 2011). Beeson and Golbus (1985) and
Myring et al. (2011) found that couples with personal experiences of a genetic condition (i.e.,
those who already had an affected child) had a better understanding of the issues regarding
further reproductive decisions, as compared to those couples with little experience of a genetic
condition were unclear in their decision making about future children.
Prenatal genetic counseling and testing emphasize couple decision-making. This
counseling is not only a potential stressor, particularly when spousal conflict or disagreement
exists regarding testing, but can also act as a source of comfort and support (Humphreys et al.,
2008). Factors considered by the couple in reproductive decision making include interests of self,
interests of current offspring, interests of future offspring, preferences of spouse, preferences of
family of origin, obligations to broader society (Klitzman et al., 2007). Religious, ethical, and
intellectual values have also been shown to influence the decision making process (Pivetti &
Melotti, 2013). In one study, race/ethnicity was associated with the degree of influence on
prenatal genetic testing (Learman et al., 2003). For example, African Americans and Latinas
were more likely influenced by their faith/religion, while Caucasian women were most likely to
report that their health care provider would influence their decision-making. Couples may
discover that making decisions about subsequent children involves finding a balance between
wanting to have another child, the future needs of existing children, and the at-risk parent
(Downing, 2005).

16

Decisions About Genetic Testing in Children
Many common genetic conditions occur in families with no previous family history or
experience of the disorder (Collins & Williamson, 2003). In their study on prenatal genetic
testing, Pivetti and Melotti (2013) found that people who had a good understanding of genetic
testing and who could count on the support of family members and friends showed a positive
attitude toward genetic testing. In making the decision about whether to undergo prenatal genetic
testing, women and their partners must consider age-related risk information, the physical risks
to the fetus associated with the procedure (Verp, 1992), and their own values and attitudes
concerning pregnancy termination and the possibility of raising a child with a genetic disorder
(Humphreys et al., 2008; Moyer et al., 1999). The most frequent reasons which lead a couple to
consider genetic testing include the worry that the baby is at an increased risk of genetic
disorder, the need to make a decision about family planning, a desire for relief from uncertainty,
and the intention to take better care of their own health (Pivetti & Melotti, 2013; Moyer et al.,
1999). One study found that receiving a positive (i.e., confirmatory genetic) prenatal diagnosis
may be experienced by couples as a traumatic event with long term consequences (Nazare,
Fonesca, Gameiro, Canavarro, & Datilio, 2011).
In dealing with the uncertainty and anxiety that can come with the decision for genetic
testing, it is unclear what information is necessary for couples and families to make the decision
that is best for their family and situation. Broadstock & Michie (2000) discovered that an
informed decision, i.e., one based on all relevant information, may not be straightforward
because people differ in how much information they need or want. Moreover, couples may be
looking for an effective decision that is both informed and consistent with the decision maker’s
values. Disclosure and communication about genetic testing appears to be fairly open among

17

family members for common, treatable conditions such as inherited cancers. However, this may
not be true for more severe and stigmatizing disorders such as sex-linked or recessive conditions
(e.g., cystic fibrosis) or Huntington’s Disease (Peterson, 2005).
The dynamics operating between partners, particularly the extent to which the views of
each partner are respected or taken into account by the other partner are relevant to the nature of
couples' decision making process, especially with genetic testing (Daniels, Lewis, & Gillett,
1995). Specifically, the more men perceived that their wives valued and accepted their opinions,
and who felt more appreciated by their wives, the more women felt that the decision was shared
and that couple’s agreement about genetic testing was high (Nazare et al., 2011). If genetic
testing is a subject that causes tension within the relationship, then it is likely that both men and
women will forge alliances with others, such as extended family or medical professionals
(Daniels, Lewis, & Gillett, 1995). One study found that couples in a position to consider genetic
testing revealed the genuine care and concern they expressed for their future child(ren) and their
understanding of the profound significance of their decision, regardless whether the couple tests
or not (Hershberger et al., 2012).
In summary, couples have much to consider when faced with a decision about genetic
testing. First, couples need to consider what family members may be involved with the testing or
who they would want to include in the decision making process (Bubolz & Sontag, 1993),
knowing that each person brings their own experiences, values, and way of thinking to the
process (Anderson, 2007). Second, couples must understand that inherent in genetic testing is a
certain amount of risk (Lerman, Croyle, Tercyak, & Hamann, 2002), and testing has a
psychological impact on everyone genetically linked, not just the individual being tested (BartleHaring & Gregory, 2003). Third, couples must understand that reproductive decision making is a

18

joint enterprise by the couple (Kenen, Smith, Watkins, & Zuber-Pittore, 2000) based on
numerous factors, including preferences of spouse and self, (Klitzman et al., 2007), perceived
risk, (Myring et al., 2011), and religious and ethical values (Pivetti & Melotti, 2013). Finally, it
is necessary for couples to gather information and assess their personal values about the
possibility of pregnancy termination or raising a child with a genetic disorder when deciding
about genetic testing in children (Humphreys et al., 2008).
Family Adaptation After Receiving a Diagnosis
As the human genome is more completely understood and new genetic tests are
developed to detect both the predisposition to, and the presence of, specific diseases, medical
professionals and family therapists are becoming more aware of the effect these tests will have
on family systems and on the health beliefs of the family. Families can know about a genetic
diagnosis sooner than ever before and they can also learn about the expected course of a disorder
over time. Once a diagnosis has been received, families now have the task of making sense of the
diagnosis and deciding on how the family system needs to change or adapt in order to
accommodate the disorder. A genetic disorder diagnosis brings an array of challenges to parents
of a child with a genetic disorder, and depending on the severity and prognosis, can lead to
considerable stress on all in the family system.
Emotional Roller Coaster for Parents
The literature is clear on how stressful the diagnosis of a genetic disorder in a child is for
parents. For the majority of parents, receiving the diagnosis was understandably the worst
experience of their lives, but for most, it did not change the way they loved their child. Studies
describe a wide array of emotions including anguish, bitterness, confusion, despair, devastation,
disbelief, distress, fear, grief, guilt, loneliness, numbness, sadness, shock or upset (Strehl &

19

Middlemiss, 2007, Nusbaum et al., 2008). Upon receiving a diagnosis of Fragile X Syndrome
(FXS), most mothers recounted being on a “huge emotional rollercoaster” consisting of being
devastated on the one hand about the seriousness of the condition, and relieved on the other that
their child had a definitive diagnosis (Visootsak et al., 2012). In a study done by Lord, Wastell,
& Ungerer (2005), researchers reported parents of a child diagnosed with Phenylketonuria, a
manageable, inherited childhood genetic disorder, experienced a mild trauma reaction when first
learning about the diagnosis and learning how to manage the disorder. Fonseca, Nazare, &
Canavarro (2014) found that adjustment had improved and there was a reduction in symptoms
related to anxiety and depression for parents six months post diagnosis of a chronic illness of a
child.
Activities to Manage the Diagnosis
Managing the diagnosis requires many activities that invariably include frequent visits
with medical professionals. The literature suggests that the role medical professionals play
during the diagnosis and subsequent care of children is crucial. In several studies, it was very
common for parents to report that initial difficulties in obtaining clear, balanced, and useful
information about their child’s condition and questions about future functioning contributed
significantly to their feelings of distress, confusion and frustration. These findings support other
studies which have concluded that parents benefit most from receiving clear, balanced, up-todate written and verbal information, with follow-up appointments for further clarification (Helm
et al., 1998; Schuth et al., 1994; Statham et al., 2000). Parents report that experience contact with
health-care providers is a vital connection to expertise, to advice, to reassurance, to instructions
(Grob, 2008). In one study, parents reported that positive encounters with doctors had a
significant impact on their coping, while negative encounters had an inverse effect on coping

20

(Chaplin, Schweitzer, & Perkoulidis, 2005). In another study, participants reported both negative
and positive experiences with their medical professionals; however, the negative experiences
outnumbered positive experiences 2.5 to 1 and, as a result, this was still a net negative
experience for these parents (Goff et al., 2013).
The Long Term Burden of a Genetic Diagnosis of a Child on Families
Several studies suggest that for many genetic disorders, substantial burdens are created
for families, and these burdens are not time limited, but often endure for years and decades.
Some families report they live in a state of hyper vigilance, heightened anxiety, and emotional
exhaustion (Kratz et al., 2009). The psychosocial burden experienced by family members of
affected children may begin to wear on families over time. For example, some couples report
marital disharmony, limitations on their time, financial distress, and hindrance from enjoyment
of life (Panepinto et al. 2005; Tunde-Ayinmode 2007). For example, mothers of children with
Sickle Cell Disease (SCD) have commonly reported daily emotional challenges of constant fear
related to their children’s possible death, loss of control over their lives, and helplessness
(Wonkam et al., 2014). Pelchat (1993) found that the way in which one perceives the problem is
an important predictor of adaptation. The impact of chronic illness on family functioning and
how the family adapts is contingent on a range of factors including limitations to finances,
spouse and sibling relationships, extended family relationships and the ability to cope (Ashton,
2004). As families transition from the initial diagnosis to regular, ongoing care, one study
showed that every-day life is often more stable in families that have dealt with a child’s illness
for a relatively long period of time (Trzcieniecka-Green, Bargiel-Matusiewicz, Wilczynska, &
Omar, 2015). Moreover, parents of children with a chronic illness eventually develop a shared
view of the illness, its management, and its impact on family life (Knafl & Zoeller, 2000), which

21

helps with the overall transition and adaptation of families coping with a chronic illness.

22

CHAPTER 3: RESEARCH DESIGN AND METHOD
This chapter describes the research procedures for the study including the research
design, methodology, the data collection, human subjects, and analysis procedures. This chapter
also addresses the rationale for using qualitative methodology and issues of trustworthiness,
credibility, and ethics.
Research Design
Parents who give birth to a child suffering from a genetic disorder, i.e., an affected child,
have many concerns and must cope with many struggles. Not only can the parents face anxiety
and guilt for passing on a genetic disorder to their child (Dinc & Terzioglu, 2006), but they also
face other sources of stress, including a lack of understanding of risk, delay between diagnosis
and available treatment, and a fear of stigma or possible discrimination in employment or with
insurance carriers (Knafl, Knafl, Gallo, & Angst, 2007; Kelly, 2009). Moreover, parents who are
considering having additional children need to take into account the possible disruption of
parent-child and sibling-sibling relationships that may result from the diversion of time and
energy towards the medical management of the current or future child’s genetic disorder (Knafl,
Knafl, Gallo, & Angst, 2007).
The overall purpose of this qualitative study was to understand the lived experiences of
couples in the Midwestern United States who have a child suffering from a genetic disorder
(affected child). The results have been divided into two studies: The purpose of Study 1 was to
understand what variables contribute to a couple’s decision to have additional children after
already having a child diagnosed with a genetic disorder, how couples communicate with each
other about having additional children and what factors contribute to their decision-making

23

processes; the purpose of Study 2 is was to understand the couple’s experience of how their
family adapted to the diagnosis in a child of an inherited genetic disorder and what factors were
helpful or a hindrance to the adaptation process. All couples will participated in one joint, faceto-face, semi-structured, in-depth interview and completed a demographics questionnaire.
The interviews were designed to explore the couple’s experiences of raising an affected
child and how the couple communicated with each other to decide about having additional
children. Interview questions were written in a way to capture how the couple’s experience with
the medical system as well as the family belief systems, resources, and spirituality shaped the
couple’s decision-making process concerning having additional children as well as the role it
played in shaping the family’s adaptation process. See Appendix A for interview guide.
Rationale for Qualitative Methodology
Qualitative research involves an interpretative, naturalistic approach to the world wherein
it positions the researcher in the world that he/she is trying to understand (Denzin & Lincoln,
2005). It is the study of the meaning individuals or groups ascribe to a social or human problem
(Creswell, 2007; Bloomberg & Volpe, 2008). Qualitative research helps us understand the
complex details of problems that cannot always be accurately reflected in quantitative research.
Qualitative research is well suited for research in health care because of its emphasis on people’s
lived experiences, especially in capturing the interaction between multiple parties (i.e., between
patient and provider), which is cannot be easily reduced to a statistical number (Al-Busaidi,
2008; Pascal, Johnson, Dore, & Trainor, 2011). The popularity of qualitative research has been
growing in health care studies, as evidenced by its own scholarly journal, Qualitative Healthcare
Research, which has been in existence since 1991.

24

Thematic Analysis
Thematic analysis was used in both Study 1 and Study 2 as the main tool for analysis.
Thematic analysis is a method for identifying, analyzing, and generating rich insights into the
data (Braun & Clarke, 2006; Knapton, 2015) and is a useful research tool because of its
flexibility to identify common threads that extend across and entire set of interviews (Braun &
Clarke, 2006) and allows the researcher to analyze the themes while considering the broader
context influencing the stories (Vaismoradi, Turunen, & Bondas, 2013). The flexibility of the
approach has brought up concerns about the rigor of the research conducted, but some
researchers argue thematic analysis is a good fit for qualitative researchers at the beginning of
their careers due to the detailed sequence of analytical stages (Vaismoradi, Turunen, & Bondas,
20130). Braun and Clarke (2006) provide an detailed step-by-step guide, which is summarized in
the Data Analysis section and reflects the process the researcher followed during analysis.
Role of the Researcher, Biases, Credentials
In keeping with the qualitative tradition, the researcher is involved in multiple phases of
the research process. It is important for the researcher to be mindful of his/her beliefs and
preconceived notions that may have an effect on the research being conducted. To this extent, the
researcher bracketed, or set aside, any personal views or notions so that the meaning gleaned
from the data comes directly from the participants (Groenwald, 2004). The researcher kept a
detailed journal throughout the course of the research process to monitor and reflect on any
epistemological assumptions and the ways in which her beliefs and experiences may impact the
research (King & Horrocks, 2010). The researcher is a licensed Marriage and Family Therapist
and has been practicing in a private practice setting for seven years. She is a married, Caucasian
woman in her early 30s with no children who has been struggling with infertility for about eight

25

years. The researcher has never had any genetic testing done, nor has anyone else in her family.
Therefore she cannot relate to the experience of genetic testing, for herself or for her children,
nor does she have any experience as a parent. Through her battle with infertility the researcher
has been a patient with several doctors and has had both positive and negative experiences. She
understands the importance and benefit of having a trusting relationship with a health
professional. The researcher bracketed any personal views and experiences during the analysis
process and noted in her journal any feelings that came up.
Participants
Inclusion Criteria
Couples were eligible to participate if they met the following criteria: (a) had at least one
affected child and considered having another child, (b) expressed an interest to participate in the
study, (c) provided written consent, and (d) spoke English.
Exclusion Criteria
Couples were excluded from the study if they did not meet any of the eligibility
requirements, and if they were currently involved with child protective services due to confirmed
child abuse or neglect. The sample size goal of nine couples was met (Smith & Osborn, 2003;
Creswell, 2007).
Procedures
Following approval from the Michigan State University (MSU) Institutional Review
Board (IRB), couples were recruited through a “call for participants” message posted on a
Facebook group associated with a particular disease or disorder. Three disorders are represented
in the two studies: Spina Bifida, Fragile X, and Tuberous Sclerosis Complex. Participants came
from one of the following three genetic disorders: Spina Bifida, Tuberous Sclerosis, and Fragile

26

X. Spina Bifida is the most common permanently disabling birth defect in the United States and
happens when the baby is in the womb and the spinal column does not close all of the way. It is
sometimes called the “snowflake disorder” because no two cases look the same, and can result in
mobility problems, bladder, bowel, or gastrointestinal disorders, and learning disabilities
(www.spinabifidaassociation.org). Tuberous sclerosis complex (TSC) is a genetic disorder that
causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin
and lungs. The aspects of TSC that most strongly impact quality of life are generally associated
with the brain: seizures, developmental delays, intellectual disabilities, and autism spectrum
disorder (www.tsalliance.org). Fragile X syndrome (FXS) is a genetic condition that causes
intellectual disability, behavioral and learning challenges, and various physical impairments.
Though FXS occurs in both genders, males are more frequently affected than females, and
generally with greater severity. Life expectancy is not affected in people with FXS because there
are usually no life-threatening health concerns associated with the condition (www.fragilex.org).
Of the nine couples interviewed, three couples had a child with Spina Bifida, three
couples had a child(ren) with Fragile X, and three couples had a child with Tuberous Sclerosis
Complex. Seven of the nine couples had children after their first child was diagnosed, two
couples were considering adoption at the time of the interview. The researcher used both
convenience sampling and purposive sampling, as these types of sampling allow the researcher
to find a more closely defined group for whom the research questions will be significant (Smith
& Osborn, 2003). Couples who participated in study were given a $50 Visa gift card for their
participation. See Table 1 for a more complete description of the participants.

27

Data Collection
Data was collected through face-to-face, semi-structured joint interviews with couples
that have at least one affected child and considered having another child. In all of the interviews
except for one the children were present for the entire interview. This was because of the unique
childcare needs of these families. Sensitive information that would have been disturbing to the
child was not discussed in his/her presence. All interviews were audio recorded and later
transcribed verbatim. Throughout the interview process the researcher kept a detailed journal that
reflected the researcher’s thoughts, observations, and experiences.
Data Analysis
After the interviews were transcribed, the researcher analyzed the data collected from the
interviews according to the phases outlined by Braun and Clarke (2006) for using Thematic
Analysis: 1) familiarize yourself with your data; 2) generating initial codes; 3) searching for
themes; 4) reviewing themes; 5) defining and naming themes; and 6) producing the report. First,
the researcher was immersed in the data, listening to the audio files, reading and re-reading the
data and jotting down initial ideas. Second, the researcher coded interesting features of the data
across the entire data set. Next, she collated the codes into potential themes and gathered all the
data relevant to each potential theme, and then checked to see if the codes and themes fit across
the entire data set. As the analysis progressed, the researcher continued to check and refine the
themes, generating a clear definition and name for each theme. Finally, specific quotes that
provided a thick description of the themes were collected and separated to produce the two
studies.

28

Issues of Trustworthiness
Guba and Lincoln (1998) suggest using the terms credibility, dependability, and
transferability to address issues of trustworthiness in a qualitative research study. Credibility,
which is similar to validity, is concerned with whether the participants’ perceptions match up
with the researcher’s portrayal of the participants’ perceptions. Dependability, which is
comparable to reliability, focuses on ability to track the procedures used to collect and interpret
the data. Transferability (or generalizability) does not focus on the representativeness of a sample
is, as it would be in quantitative research, but whether the reader could imagine similar processes
occurring in other settings (Bloomberg & Volpe, 2008).
The researcher used several methods to ensure credibility. All transcribed interviews will
be sent back to each couple for review. By using member checks, the researcher will attempt to
eliminate personal biases and confirm that only the couple’s perspectives are portrayed. As
themes emerge from the interviews the researcher will check in with couples through email or by
phone about the findings if needed. The researcher kept a detailed journal that included reflective
field notes about subjective perspectives and biases throughout the data collection and analysis
process.
Qualitative researchers should provide detailed descriptions of the phenomena they study
and their context (King & Horrocks, 2010). These “thick descriptions” help to ensure that the
analysis is consistent with the narrative being presented and that dependability is established.
The researcher worked with her advisor on coding of interviews and consultation on themes that
emerged, using a constant comparative method to check the consistency of the coding and
establish inter-rater reliability.

29

Transferability can be identified in the study through thick, rich descriptions of the
participants and the context provided in the discussion section (Shenton, 2004). The couple’s
own words were used when describing a particular theme, and all transcribed interviews are
available for review.

30

Table 1: Demographics Table
Name
Gender
Age (yr)
Length of
Marriage
(yr)
Ethnicity/
Race
Highest
Degree
Earned

Current
Employment
Combined
Family
Income 2015
Religion

Total
Number of
Children
Male Child
Female Child
Birth Order
of Affected
Child
Disorder

Couple 1
David
Janet
M
F
41
35

Couple 2
Chris
Jen
M
F
38
33

Couple 3
Oliver
Holly
M
F
35
34

10

10

12

12

10

10

White

White

White

White

White

White

Masters

Bachelors

Employed
For Wages

SelfEmployed

$50,000$74,000

$50,000$74,000

$75,000$99,000

None

None

None

NonDenom.

$75,000$99,000
Atheist

Protestant

4

4

3

3

3

3

3
1

3
1

0
3

0
3

Third
(Male)

Third
(Male)

First
(Female)

First
(Female)

Spina
Bifida

Spina
Bifida

Spina
Bifida

Spina
Bifida

2
1
First
(Male);
Third
(Female)
Fragile X;
Fragile X

2
1
First
(Male);
Third
(Female)
Fragile X;
Fragile X

$50,000$74,000

$50,000$74,000

Some
Some
Some
Some
College
College
College
College
Credit/
Credit/
Credit/
Credit/
No Degree No Degree No Degree No Degree
Employed Employed Employed
HomeFor Wages For Wages For Wages
Maker

31

Table 1: (cont’d)
Name
Gender
Age (yr)
Length of
Marriage
(yr)
Ethnicity/
Race
Highest
Degree
Earned

Current
Employment
Combined
Family
Income 2015
Religion

Total
Number of
Children
Male Child
Female Child
Birth Order
of Affected
Child
Disorder

Couple 4
John
Katie
M
F
34
29

Couple 5
Robert
Nancy
M
F
44
39

Couple 6
Steve
Kristen
M
F
37
40

5

5

9

9

4

4

White

Hispanic

White

White

White

White

Some
College
Doctorate Associates
Masters
Bachelors
Credit/
No Degree
Employed
HomeSelfEmployed Employed
For Wages
Maker
Employed For Wages For Wages

SelfEmployed

$75,000$99,000

$75,000$99,000

$50,000$74,000

$50,000$74,000

Protestant

Protestant

None

None

NonDenom.

1

1

2

2

2

2

0
1

0
1

1
1

1
1

0
2

0
2

First
(Female)
Spina
Bifida

First
(Female)
Spina
Bifida

First
(Male)

Tuberous
Sclerosis

32

First
(Male)

Tuberous
Sclerosis

$100,000$149,000

Masters

First
(Female)

Tuberous
Sclerosis

$100,000$149,000
NonDenom.

First
(Female)

Tuberous
Sclerosis

Table 1: (cont’d)
Name
Gender
Age (yr)
Length of
Marriage
(yr)
Ethnicity/
Race
Highest
Degree
Earned

Current
Employment
Combined
Family
Income 2015

Couple 7
Joe
Tina
M
F
40
37

Couple 8
Ben
Kelly
M
F
44
41

14

14

19

19

20

20

White

White

White

White

White

White

Trade/
Technical/
Masters
Doctorate
Associates Bachelors
Vocational
Training
Employed Employed Employed
HomeEmployed
For Wages For Wages For Wages
Maker
For Wages
$150,000
or more

$150,000
or more

$20,000$34,000

$20,000$34,000

Protestant

Protestant

Lutheran

2

2

Birth Order
of Affected
Child

1
1

Disorder

Religion

Total
Number of
Children
Male Child
Female Child

Couple 9
Zach
Rachel
M
F
51
48

Bachelors
HomeMaker

$150,000
or more

Lutheran

Roman
Catholic

$150,000
or more

2

2

2

2

1
1

1
1

1
1

First
(Male)

First
(Male)

Second
(Female)

Second
(Female)

Fragile X

Fragile X

Tuberous
Sclerosis

Tuberous
Sclerosis

0
2
First
(Female);
Second
(Female)
Fragile X;
Fragile X

0
2
First
(Female);
Second
(Female)
Fragile X;
Fragile X

33

Roman
Catholic

CHAPTER 4: STUDY ONE
"The Fear of Having Another Biological Child Versus the Fear of Not Having Another
Biological Child”: Decision Making Among Couples With a Child Who Has a Childhood
Genetic Disorder
ABSTRACT
There is a gap in our understanding of how couples deal with genetic information,
especially when a child is diagnosed with an inherited genetic condition. Also, there is a lack of
understanding of the decision-making processes regarding genetic testing. The purpose of this
qualitative study was to understand the lived experiences of couples who have a child suffering
from a genetic disorder (affected child). For this study, the affected child is defined as a child
who has been diagnosed with a genetic disorder that “causes significant morbidity and
mortality”. Ten couples from the Midwestern United States were interviewed using a semistructured, joint interview process. Using thematic analysis and the couples’ own words, this
study found that several factors contributed to the decision to have future children after their
child received a diagnosis of an inherited childhood genetic disorder. These factors include
evaluating the risks and burdens of having another affected child and collecting information
regarding genetic status and available resources. Implications for family therapists are addressed.

34

Introduction
Genetic testing in the United States started in an experimental laboratory in the late 1950s
(Feetham & Thomson, 2006). Since the completion of the Human Genome Project in 2003,
genetic tests have become widely available, and at relatively low cost, for more than 1,000
genetic disorders (Feetham & Thomson, 2006). As the human genome is more completely
understood and new genetic tests are developed to detect both the predisposition to, and the
presence of, specific diseases, medical professionals and family therapists are becoming more
aware of the effect these tests will have on family systems and on the health beliefs of the family.
Both the benefits and risks of genetic testing are high (Johnson, Wilkinson, & Taylor-Brown,
1999) in that families can know risks to disorders early on in the process, but can also be affected
in their day to day activities due to the anxieties raised by the genetic diagnosis. Predictive
genetic testing is of huge benefit to couples in that it allows them access to numerous preemptive
medical care options that they likely would not have otherwise known about without the testing.
While diagnostic genetic testing can confirm diagnoses, determine their type and severity, and
substantiate the appropriateness of targeted therapy (Peterson, 2005), it can also lead to decisions
that lead to ethical quandaries for parents of children.
The primary risk associated with all types of genetic testing is that such testing can reveal
information that may either not be actionable by the couple, or if actionable, cause considerable
stress and anxiety. The dilemmas that these scenarios pose for couples can alter family
relationships, intensify preexisting family difficulties, and result in both perceived and actual
discrimination and stigmatization (Street & Soldan, 1998; Van Riper & Gallo, 2006). For
couples who give birth to an affected child, this inability to act can take on different meanings as
parents face multiple decision points about treatment and prognosis. Parents of a child who has

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been referred for genetic testing or whose child has a genetic disorder report an elevated level of
anxiety due to the concern about the health and future of their child, and upon receiving results
indicating an abnormality, may feel worried, hopeless, and guilty (Dinc & Terzioglu, 2006).
Not only must the parents of a child with a genetic disorder consider the time, energy,
and costs involved in the medical management of the genetic disorder; they also face other
potentially negative effects in multiple other areas including the decreased self-esteem and selfworth of the diagnosed child, disruption of parent-affected child relationship, parent-unaffected
sibling/s relationship, or sibling-sibling relationships, along with an increase in parental anxiety
and guilt (Knafl, Knafl, Gallo, & Angst, 2007). Several studies have identified a number of
sources of stress for families who have a child with a genetic disorder, including a lack of
understanding of risk, lag time between genetic discoveries and available treatments, fear of loss
of privacy, stigma, and possible discrimination in employment, insurance reimbursement, or by
school systems (Knafl, Knafl, Gallo, & Angst, 2007; Kelly, 2009). Research has demonstrated
that once a child has been diagnosed with a genetic disorder, there are numerous implications for
parental mental health and overall family functioning including parental feelings of denial, anger,
guilt, and depression (Jacobs & Deatrick, 1999), lower relationship and sexual satisfaction in the
couple along with greater relationship strain (Manne et al., 2004; Quaid & Wesson, 1995), and
the real and perceived losses of child and family functioning (Jacobs & Deatrick, 1999). On
average, families with a child with a disability face greater levels of stress and dysfunction than
do other families (Collins & Williamson, 2003). However, little is known about the role these
factors play in parent decision-making about future pregnancies.
In a study completed by D’Amico et al. (1992), the authors found that among couples
with previous experience of a child affected with genetic disease, a significantly higher

36

percentage (65.5%) avoided further pregnancies as compared to couples who opted for further
reproduction (34.5%). Surprisingly, couples with a first affected deceased child were far less
likely (13.6%) to refrain from reproduction. In a similar study, the majority of parents of a child
affected with a genetic disorder chose to avoid future pregnancies, so as to avoid any decisions
about prenatal screening or testing to identify whether subsequent children may be affected
(Kelly, 2009). Although prenatal diagnosis and preimplantation diagnosis are made available to
families who are at higher risk for genetic abnormalities or who are carriers of genes that cause
childhood onset disorders, many couples choose not to test for a number of personal, ethical, or
religious reasons. Based on feelings of guilt or disrespect for the first-born, in the case of
selective termination, or if the parents are unsure of whether they could make a decision about
termination, many parents choose not to test and thereby wait and see if their child is affected
(Gotz & Gotz, 2006). In a study done on parents of children diagnosed with cystic fibrosis (CF),
Ormond et al. (2007) found that the majority of parents were likely to pursue (or had already
pursued) future pregnancies. In fact, the initial experience of diagnosis and care of a child with
CF lessened any anxiety about caring for future children with CF. The current study explores
how the couple views future family planning and related health care decisions.
Background
Decision Making in the Family
The family strongly influences health behaviors (Peterson, 2005; Rolland & Williams,
2005). For this reason, it is important to understand the process of decision making within the
couple related to behaviors affecting health. At a familial level, decision-making is a process of
reducing dissonance between and among family members (Bubolz & Sontag, 1993) and is the
central control system of family organization. This reduction of dissonance leads to less stress

37

and conflict around critical decisions. At its most basic, decision-making involves: 1) the
recognition of need for decision, 2) identifying and weighing acceptable alternatives, and 3)
selecting or mediating an alternative and facilitating its action (Paolucci, Hall, & Axinn, 1977).
From a different perspective, Hastie (2001) describes a decision as involving three components:
1) choice options and courses of actions; 2) beliefs about objective states, processes, and events
in the world, including outcomes states and means to achieve them; and 3) desires, values or
utilities that describe the consequences associated with the outcomes of each action event
combination. On the contrary, decisions can also carry meaning for individuals and families in
ways that may not make sense to others outside the family (Patel, Kaufman, & Arocha, 2002). In
short, the mutual decision making required by families, especially around stressful issues, is
complex, emotional, and often stressful.
In families, decision making can involve a seeming unlimited number of possible
outcomes (Bubolz & Sontag, 1993) and can be a complex process. Not only are families faced
with making many types of decisions (Bubolz & Sontag, 1993), but family decisions are also
influenced by the environment in which the family functions, which can either restrict decision
making or offer opportunities (Paolucci, Hall, & Axinn, 1977). In many instances, family
decisions involve group decisions (Bubolz & Sontag, 1993) and group decision-making
processes. Since family decisions are typically made by more than one family member, it is
necessary to analyze decision making from an ecological perspective, because each family
member is different, with a different psychological make-up. Moreover, each member brings
their unique experiences into the decision (Paolucci, Hall, & Axinn, 1977) using their own
personal style of thinking to make their way through the decision-making process, with different
meanings for their experiences, values, expectations, and uses of information (Anderson, 2007).

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Risk, Family Decisions, and Genetics
In addition, many family decisions are made under conditions of uncertainty and risk
(Bubolz & Sontag, 1993). The concept of risk is especially highlighted in regards to predictive
genetic testing, where decisions of risk are paramount because the information gleaned from
such testing can drastically alter an individual’s sense of self, can change personal identities, and
can cause extreme anxiety and stress (Hallowell, Foster, Eeles, Ardern-Jones, & Watson, 2004).
Risk embodies aspects of ambiguity and uncertainty. When related to genetic inheritance, risk
can be very difficult to deal with from a personal and familial perspective (Peters, Djurdjinovic,
& Baker, 1999). There are two types of risk. A first type of risk is viewed negatively. Knowledge
of this type of risk constitutes a heightened awareness of potential unknown dangers or hazards
that then becomes a major source of anxiety within the family. A second type of risk is viewed
positively. Knowledge of this type of risk helps families predict the likelihood of events
occurring in the future and allows the family to feel empowered and more in control of their
actions and medical destiny (Hallowell et al., 2004). Both of these types of risk are evident in
families considering genetic testing. An understanding of genetic risks is considered crucial for
informed decision-making (Henneman, Marteau, & Timmermans, 2008).
Decision-making in families does not rely solely on one family member. Rather, the
decision is shared on some level by all family members (Paolucci, Hall, & Axinn, 1977). In
making decisions about whether, when, or how genetic information should be evaluated and
shared, the interests of both the individual and those with whom they are genetically linked must
be considered (Van Riper & Gallo, 2006).
It is important to elicit each family member’s understanding of his or her genetic risk and
any previous health beliefs prior to beginning to convey risk information to the family (Peters,

39

Djurdjinovic, & Baker, 1999). Genetic testing and risk knowledge can disrupt core beliefs
(Rolland, 2006). Bartle-Haring and Gregory (2003) emphasize that the genetic testing decisionmaking process has a psychological impact on everyone who is genetically linked, and not just
on the proband (i.e., person of genetic interest). Several steps can be taken in communicating
genetic risk information within the family. First, it is important to have an accurate family
history across generations (McCann et al., 2009). Second, genetic risk information given to one
member of the family should be circulated to the rest of the family members (Bowen, Bourcier,
Press, Lewis, & Burke, 2004). Third, decisions about what to do relative to future genetic testing
or behaviors related to healthcare decisions should be discussed among family members (Bowen
et al., 2004). Shared health beliefs help family members find meaning in their illness experience,
whether current or future, and help guide decisions and actions (Rolland, 2006). Research
indicates that families who discuss illness and genetics are associated with genetic test uptake, or
likelihood to participate in genetic testing (McCann et al., 2009). This discussion may also serve
as a social support function to build relational bonds and to facilitate coping among family
members (Peterson, 2005).
Risk perception correlates with decision making about genetic testing (Lerman, Croyle,
Tercyak, & Hamann, 2002), and perceived risk can be more influential than objective risk
(Hiraki, Chen, Roberts, Cupples, & Green, 2009). Understanding perceived risks for complex
genetically based diseases can improve risk communication, optimize coping strategies, and
encourage the uptake of preventive health behaviors (Hiraki et al., 2009). Decision-making is not
merely dependent on obtaining accurate risk information for weighing pros and cons or to
resolve or mitigate risk (Anderson, 2007). Decision-making is a complex process that can
involve emotion based- and/or rational- modes of perceiving and responding to information

40

(Hopwood, 2000), and using these modes in the context of personal relationships (e.g. within
couples and families) and professional relationships (e.g. with doctors and genetic counselors)
(Anderson, 2007).
Reproductive Decision Making Related to Genetic Testing
Decisions to have children are usually not made solely by one individual, but typically as
part of a couple. When considering the potential genetic risks, couples often make these
reproductive decisions, not in isolation, but with input from family members, health care
workers, and others (Klitzman, Thorne, Williamson, Chung, & Marder, 2007). One study
showed that 67% of the women made the decision to test prenatally with their partners and no
women reported making the decision alone (Humphreys, Cappelli, Aronovitch, Allanson, &
Hunter 2008). Another study confirms that decision making concerning genetic testing is
primarily a joint enterprise (Kenen, Smith, Watkins, & Zuber-Pittore, 2000). Genetic testing has
made it possible to clarify uncertainties before or when making reproductive decisions
(Downing, 2005). The decisions that couples make in situations of genetic risk are not based
solely on risk information. Instead, these decisions are multifaceted and depend on factors such
as desired family size, perceived risk, social context, and personal experiences with the genetic
condition (Myring et al., 2011). Beeson and Golbus (1985) and Myring et al. (2011) found
couples with personal experiences of a genetic condition (i.e., those who already had an affected
child) had a better understanding of the issues regarding further reproductive decisions, whereas
those couples with little experience of a genetic condition were unclear in their decision making
about future children.
Prenatal genetic counseling and testing emphasize couple decision-making. This
counseling is not only a potential stressor, particularly when spousal conflict or disagreement

41

exists regarding testing, but can also act as a source of comfort and support (Humphreys et al.,
2008). Factors considered in reproductive decision making include interests of self, interests of
current offspring, interests of future offspring, preferences of spouse, preferences of family of
origin, and obligations to broader society (Klitzman et al., 2007). Religious, ethical, and
intellectual values have also been shown to influence the decision making process (Pivetti &
Melotti, 2013). In one study, race/ethnicity was associated with decisions about prenatal genetic
testing (Learman et al., 2003). African Americans and Latinas were more likely influenced by
their faith/religion, while Caucasian women were most likely to report that their health care
provider would influence their decision-making. Couples may discover that making decisions
about subsequent children involves finding a balance between wanting to have another child, the
future needs of existing children, and the wellbeing of the at-risk parent (Downing, 2005).
Decisions About Genetic Testing in Children
Many common genetic conditions occur in families with no previous family history or
experience of the disorder (Collins & Williamson, 2003). In their study on prenatal genetic
testing, Pivetti and Melotti (2013) found that people who had a good understanding of genetic
testing, and could count on the support of family members and friends, showed a positive
attitude toward genetic testing. In making the decision about whether to undergo prenatal genetic
testing, women and their partners must consider age-related risk information, the physical risks
to the fetus associated with the procedure (Verp, 1992), and their own values and attitudes
concerning pregnancy termination and the possibility of raising a child with a genetic disorder
(Humphreys et al., 2008; Moyer et al., 1999). The most frequent reasons which lead a couple to
consider genetic testing include the worry that the baby is at an increased risk of genetic
disorder, the need to make a decision about family planning, a desire for relief from uncertainty,

42

and the intention to take better care of one’s health (Moyer et al., 1999; Pivetti & Melotti, 2013).
One study found that receiving a positive (i.e., confirmatory genetic) prenatal diagnosis may be
experienced by couples as a traumatic event with long term consequences (Nazare, Fonesca,
Gameiro, Canavarro, & Datilio, 2011).
In dealing with the uncertainty and anxiety that can come with the decision for genetic
testing, it is unclear what information is necessary for couples and families to make the decision
that is best for their family and situation. Broadstock and Michie (2000) discovered that an
informed decision, i.e., one based on all relevant information, may not be as straightforward as
one would assume, because people differ in how much information they need, want, or receive.
Moreover, couples may be looking for an effective decision that is both informed and consistent
with the decision maker’s values, and this is not always easy or possible. Disclosure and
communication about genetic testing appears to be fairly open for common, treatable conditions
such as inherited cancers. However, this may not be the case for more severe and stigmatizing
disorders such as sex-linked or recessive conditions (e.g., cystic fibrosis) or Huntington’s
Disease (Peterson, 2005).
The dynamics operating between partners, particularly the extent to which the views of
each partner are respected or taken into account by the other partner are relevant to the nature of
couples' decision making process (Daniels, Lewis, & Gillett, 1995). Specifically, the more men
perceived that their wives valued and accepted their opinions, and felt more appreciated by their
wives, the more women felt that the decision was shared and that couple’s agreement was high
(Nazare et al., 2011). If genetic testing is a subject that causes tension within the relationship,
then it is likely that both men and women will forge alliances with others, such as extended
family or medical professionals (Daniels, Lewis, & Gillett, 1995). One study found that couples

43

in a position to consider genetic testing revealed the genuine care and concern they expressed for
their future child(ren) and their understanding of the profound significance of their decision,
regardless of their decision type (Hershberger et al., 2012).
In summary, couples have much to consider when faced with a decision about genetic
testing. First, couples need to think about what family members may be involved or who they
would want to include in the decision making process (Bubolz & Sontag, 1993), knowing that
each person brings their own experiences, values, and way of thinking to the process (Anderson,
2007). Second, understanding that inherent in genetic testing is a certain amount of risk (Lerman,
Croyle, Tercyak, & Hamann, 2002) that has a psychological impact on everyone genetically
linked, not just the individual being tested (Bartle-Haring & Gregory, 2003). Third, reproductive
decision making is a joint enterprise by the couple (Kenen, Smith, Watkins, & Zuber-Pittore,
2000) based on numerous factors, including preferences of spouse and self, (Klitzman et al.,
2007), perceived risk, (Myring et al., 2011), and religious and ethical values (Pivetti & Melotti,
2013). Finally, it is necessary for couples to gather information and assess their personal values
about the possibility of pregnancy termination or raising a child with a genetic disorder when
deciding about genetic testing in children (Humphreys et al., 2008).
Purpose of the Study
The purpose of the study was to understand experiences and processes related to a
couple’s decision to have additional children after already having a child diagnosed with a
genetic disorder. I sought to explore how couples communicate with each other about having
additional children and what experiences and factors contribute to their decision-making
processes.

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Methods
Sample
Following approval from the Michigan State University (MSU) Institutional Review
Board (IRB), couples were recruited using purposive sampling through a “call for participants”
message posted on a Facebook group associated with a particular inherited childhood genetic
disease or disorder. Nine couples responded and were interviewed. The mean relationship length
for couples was 12.8 years. Seventeen of the 18 participants interviewed identified as White, and
the other 1 identified as Hispanic or Latino. See Table 1 for a more complete description of the
participants.
Participants came from one of the following three genetic disorders: Spina Bifida,
Tuberous Sclerosis Complex, and Fragile X. Spina Bifida is the most common permanently
disabling birth defect in the United States and the genetic condition does not allow the spinal
column to close all the way while the baby is in the womb. It is sometimes called the “snowflake
disorder” because no two cases look exactly the same, and can result in mobility problems,
bladder, bowel, or gastrointestinal disorders, and learning disabilities
(www.spinabifidaassociation.org).
Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in
many different organs in the body, primarily in the brain, eyes, heart, kidney, skin, and lungs.
The aspects of TSC that most strongly impact quality of life are generally associated with the
brain: seizures, developmental delays, intellectual disabilities, and autism spectrum disorder
(www.tsalliance.org).
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability,
behavioral and learning challenges, and various physical characteristics. Though FXS occurs in

45

both genders, males are more frequently affected than females, and generally with greater
severity. Life expectancy is not affected in people with FXS because there are usually no lifethreatening health concerns associated with the condition (www.fragilex.org).
Of the nine couples interviewed, three couples had a child with Spina Bifida, three
couples had a child(ren) with Fragile X, and three couples had a child with Tuberous Sclerosis
Complex. Seven of the nine couples had children after their first child was diagnosed, two
couples were considering adoption at the time of the interview.
Data Collection
After couples provided informed consent and completed a demographics questionnaire, a
face-to-face semi-structured interview was conducted with both the husband and wife present.
Couples who participated in study were given a $50 gift card for their participation. All
interviews were audio recorded and later transcribed verbatim by the researcher. The interviews
were designed to illicit the couples’ experiences regarding what thoughts, feelings, and events
contributed to a couple’s decision to have or not have additional children after already having a
child diagnosed with a genetic disorder, how couples communicated with each other about
having additional children, and what factors contributed to their decision-making processes.
Data Analysis
Audiotaped interviews were transcribed verbatim, all identifying information was
removed from the transcripts and each participant was assigned a study number. Thematic
content analysis was used to analyze each of the interviews (Braun & Clarke, 2006) and NVivo
software was used to organize codes and themes that emerged from the data. Thematic analysis
is a qualitative method for analyzing data that identifies patterns or “themes” within a data set
that provides rich and detailed descriptions and is well suited for health research (Vaismoradi,

46

Turunen, & Bondas, 2013). Braun & Clarke (2006) provide a thorough step-by-step guide to
doing thematic analysis that the author followed in this study. First, the author familiarized
herself with the data through reading and re-reading the interviews several times as well as
listening to the audio recordings and jotting down initial impressions. Next, she read through
each interview and coded interesting features of the data, followed by grouping the codes into
relevant themes. Ultimately the codes were reviewed to ensure they fit within the theme and the
theme was given a name.
Results
The following two major themes and related sub-themes emerged regarding decision
making for future children: 1) the evaluation of the risks and burdens for the future and 2)
collecting information that informed the decision.
Evaluation of the Risks and Burdens for the Future
Risks. Many of the couples interviewed reported that the risk of having another affected
child was an important part of the discussion regarding whether or not to have any more
children. Rachel and Zach had both of their daughters diagnosed simultaneously with Fragile X
before the age of 2 when they noticed developmental delays with their oldest daughter. Both of
their daughters require a lot of care and one of them has extremely limited communication.
When directly asked if the possibility of future children having Fragile X played a role in their
decision-making, they said:
Zach: Oh yes, it had. We had in 1 in 2 chance of all of our children having Fragile X.
That’s what the doctor said. 1 in 2, 50-50, you never know. It could be a boy, totally
healthy, could be a girl totally healthy or could be a boy with Fragile X.
Rachel: So yeah, Fragile X -- made the decision for us.

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Zach: Yeah, that’s fair to say. And without Fragile X, would we have more children?
Rachel: Probably. (Zach and Rachel, two daughters with Fragile X)
With a disorder like Fragile X, where there is a 50 percent chance of each child having the
disorder, it was important for couples to address the strong possibility of having another child
with the same or even worse physical or behavioral issues.
Oliver: We almost didn't have a third. I was done. I was done. You really wanted to try
for a girl. Which clearly worked out. But we were really, really worr--I was really
worried. I think you were really worried too [to Holly]. We were both really worried that,
you know, what happens if we have a second kid with Fragile X? And what if it's harder
than [affected child].
Holly: So we were talking about the possibility of having two children that might be at
home with us for the rest of our lives. Maybe a child that was more aggressive than
[affected child]…that was another big consideration for us. (Oliver and Holly, son with
Fragile X)
Holly and Oliver described their oldest son (diagnosed with Fragile X) as having severe tactile
defensiveness (“you couldn’t touch him”) and did not speak until he was 6 years old, this
experience highlight’s their concern of having another affected child, someone who might be
more severely affected than their son. Of the Fragile X couples went on to have another child
with Fragile X after their first child was diagnosed with it, one Fragile X couple had another
child that did not have Fragile X. Of those two couples who had a second Fragile X child, one
couple had a child with minor physical and behavioral issues whereas the other couple had a
child that was unable to communicate well and had other physical issues.
Even though there is still a 50 percent chance of each child having the disorder, the risk

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for Spina Bifida and Tuberous Sclerosis Complex is more complex because in both of those
disorders there is a chance for the disorder to be caused by a spontaneous mutation, which only
slightly increases the chance for the mutation to happen again. In the case of Spina Bifida, if a
woman has already had a child with Spina Bifida, the chance of having another affected child is
1 in 20. A woman who has Spina Bifida has a 1-5% chance of having a Spina Bifida child and
that increases to 15% if both parents have Spina Bifida. In the case of Tuberous Sclerosis
Complex, it is estimated that a family with an affected child by spontaneous mutation has a 1-3%
chance of having another child with Tuberous Sclerosis Complex. For John and Katie, the risk of
occurrence was too much:
John and I really hashed it all out because I was definitely--definitely heartbroken when
he told me he didn't want to have another biological child. That for him the risk was too
high. That he didn't want to take. And I think--I'm gonna cry a little bit. I think it was
higher because it made it feel like it was my fault. And I know that's not true. (Katie,
daughter with Spina Bifida)
Because the risk was too high for them, John and Katie opened up about the discussions and
fights they had about growing their family and how they came to the decision to adopt:
John: I would say that the tears come from two places. One is there's the fear that's
having another biological child and two, the fear of not having another biological child.
And I think that the hard part with that discussion has always been, when we discuss it
and we're honest with ourselves, both those fears are readily present on both sides. There
was lots of fights and lots of good solid strong communication on this. One of the things
we talked about was, you know, what I don't see for my wife is an all out fight that she
has to have another child. Biologically.

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Katie: Would I like to? Yes. Is that reality now? Has it changed? Yes. Can we still get
pregnant accidentally? Yes.
John: I have friends that had abortions because their children were not necessarily
medically ideal. And when you get to those type of situations where it's all or nothing and
you're willing to risk what you're willing to risk. Then you have to have a different
conversation. I think if you're in the situation where we were, where it's like, it'd be nice
to have another child. And we don't really need it to come out our loins to be considered a
child of ours. And to love it equally. We really only wanted two anyways. So maybe
adoption really is the best.
Katie: We're applying and talking to social workers about it. We're figuring out all the
steps. It's something. I, I look forward to it. I look forward to meeting a new child. (John
and Katie, daughter with Spina Bifida)
Burdens. One consideration for many of the couples in deciding whether or not to have
more children was the amount of care and resources needed for affected child. At the time of the
interviews all of the families were involved in multiple therapies and programs inside and
outside of school:
We delayed the decision to have more children partially because it was so unclear as to
how [child] would be affected, how that would affect us. Are we going to be at hospitals
every single week for the rest of our lives? Are we going to have to deal with major
medications and insurances and -- are we going to be able to keep a job that’s going to
keep her insured? All these things are definitely things we’ve had to weigh and consider.
(Kelly, daughter with Tuberous Sclerosis)
Ben and Kelly came from a lower socioeconomic status and had created a 501c3 organization so

50

they could help fundraise for their daughter’s treatments and therapies. Ben and Kelly also lived
in a smaller, rural area which added to their hardship, driving for more than an hour to go to the
doctor’s and out of state for a Tuberous Sclerosis specialty clinic. For David and Janet, who had
a son with Spina Bifida, their decision to have more children stemmed around the amount of
physical care their child needed in regards to having limited mobility and needing to use a
catheter and enema every day:
We were kind of like, can we have four kids because they kind of changed our plan and
how does his disability weigh into our family and how does that affect our decision. How
can I have a baby and a kid that is immobile and – so when he was a year, we were
nowhere near ready for another kid at that point and so we waited awhile. (Janet, son with
Spina Bifida)
Robert and Nancy, who had a son with Tuberous Sclerosis, they were concerned about the
amount of attention they could give their children while having to deal with the amount of care
the affected child needed:
I think the problem is, is not--My concern isn't, isn't the genetic aspect of it. I know that
you [wife] have concern of it. Once they told us that neither of us had it it wasn't really a
concern with me anymore. My biggest issue has been they're exhausting. I mean he was
exhausting because of his conditions….Well sometimes we feel like we're not giving
them enough attention. You know? (Robert, son with Tuberous Sclerosis)
Prior to surgery, Robert and Nancy’s son was having multiple seizures a day and having trouble
controlling the movements on one side of his body. When he was four years old he had brain
surgery to help control the seizures, but now he is communicating less than he was before and is
having some behavioral issues, he can be aggressive at times, hitting his head against the wall.

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Many couples also discussed what would happen with their child(ren) in the future and
who would take care of them, since most of the children in this study would not be able to live
on their own due to the level of care they would need on an ongoing basis:
And it kind of made us realize that we weren’t going to live forever. And my husband’s
parents are not going to live forever. My parents are not going to live forever. Not that
my parents are super involved. And we realized that what happens when we’re old?
Who’s going to take care of her? (Jen, daughter with Spina Bifida)
Jen and Chris’ daughter was confined to a wheelchair and was able to communicate utilizing an
iPad. At the time of the interview the couple had 8- month-old twin girls.
One of my concerns was care for [affected child] after we’re gone. As an only child
myself, I'm at a point right now where I'm feeling a strong burden to have to care for that
portion of my family and to being the only one; it’s rough. It’s like I have a bucket with
all these holes in it where everything is going and there's nothing saving. There’s no
backup. So I felt like…it would have been really nice to have more kids in order to have
more for [unaffected child]. I don’t want him to be an only child or to feel like an only
child who’s got to take care of the needy other family member. (Kelly, daughter with
Tuberous Sclerosis)
Some couples saw future siblings as one of the best options for caretaking and support for the
affected child:
Holly: I think one of the big, one of the big factors for me in that discussion was seeing
how well [affected child] responded to [unaffected younger brother]. To this day I say the
best thing we ever did for those two was having them close together, because [affected
child] has picked up so much from [unaffected younger brother]. Even now [affected

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child] picks up stuff from [younger sister].
Oliver: It's like, you know, that second kid usually progresses faster because he's got the
first one to learn from. I mean [unaffected younger brother] kinda surpassed [affected
child] now. But there was a while where they were, hitting a lot some of the same
milestones together, [unaffected younger brother] would push [affected child]. That was
nice, that felt good to watch.
Holly: It happened actually with [younger sister] and [affected child] with her talking.
He--They have progressed almost evenly, with speech and language development. From
when she started talking, he had been progressing like right along with her. Which I don't
know if it's coincidence or just like when it happened or maybe a little of both. (Oliver
and Holly, son with Fragile X).
Collecting Information to Inform Decision Making
All of the couples in the study said it was important for them to get as much information
and resources about their particular disorder as possible so they could make the best possible
decisions for their family, including whether or not they as parents should be genetically tested.
For Holly and Oliver, the discussion about genetic testing started when they were dating:
I'm one of those guys that when I was younger, I always said I can't handle a special kid.
It's not in my skill set. I won't be able to do it. I don't wanna try to do it. I never
considered it as part of my life. So when we started talking about it, we had already
dating for a little bit before it came up, maybe 6 months or so. And then I didn't really
know what it [Fragile X] was. She explained it to me. I just, I can't even remember what I
thought it would be like. I just generally assumed it [a child] would be--dumb. Like a kid,
right? I just figured it would be like, oh he's mentally handicapped. So it was a big deal.

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We had a lot of arguments while we were dating about her getting tested. And then, I
don't know. I think I gave up. (laughs) I think that's what ended up happening. I gave up.
I knew you [Holly] weren't gonna get tested. I knew based on kinda what we talked about
with you and what you told me, that it kinda, we had a chance either way. When we
started talking about it to, I think when we got really closer to having kids it was like,
well what are the chances anything could go wrong? And then we just said well okay.
(Oliver, son with Fragile X)
Holly got tested when she was pregnant with her first child and when she found out she tested
positive for Fragile X, it did not stop them from having biological children. For some couples
decision making for future children was made slightly easier when they found out the disorder
was caused by a spontaneous mutation:
So we struggled with insurance to get us tested. They [the lab] had some type of plan that
if your insurance didn't pay for it, you'd pay x amount. So I was like well let’s just do it.
And I said [to the lab] what can we do for us to get tested because we would like to have
a child but we want to know for sure that we don't have it. So bless her heart. She sent me
2 testing kits overnight. We got a notice that neither of us had it. Both of ours came back
negative. (Nancy, son with Tuberous Sclerosis)
Chris and Jen reported being divided on the importance of knowing the genetic risk in regards to
deciding about future children:
Chris: I don’t think it would’ve changed our thought process of having children one way
or another. It was just kind of getting the heads up of knowing what we could be getting
into.
Jen: I wanted to know beforehand. I don’t know. I don’t know if I would have been so

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gung ho if either of us were a carrier. If somebody gave me a crystal ball and said, "Yes.
You're going to have another child with medical issues." Would I have opted to have
another baby? Probably not. I don't know. Once we got the- - I mean once we found out
neither one of us were carriers. Green light. (Chris and Jen, daughter with Spina Bifida)
For those couples whose risk of having another affected child was not as great, there was more
peace of mind in moving forward with the decision to have more children. Both of the couples in
this category went on to have unaffected children.
Discussion
This study reflects the experiences of nine couples that made or are in the processing of
making a stressful and emotional decision regarding having another biological child knowing
there was a genetic risk to future children. Many common genetic conditions occur in families
with no previous family history or experience of the disorder (Collins & Williamson, 2003).
Eight of the nine couples interviewed had no knowledge of genetic conditions in their families
prior to having children. Holly and Oliver, who knew about their potential genetic risk, reported
having some conversations about the risk prior to having children but Holly did not get tested
until she was pregnant with their first child (she found out when she was 16 she was potentially a
carrier for Fragile X).
Evaluation of Risks and Burdens
One of the themes echoed throughout this study is the evaluation of the risks and burdens
for the future that couples used as part of their decision-making processes for future children.
The couples in the study identified several positive and negative risks. Positive risks help
families predict the likelihood of events occurring in the future and allow the family to feel
empowered and more in control of their actions and medical destiny (Hallowell et al., 2004).

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Some of the couples decided to get genetically tested and in receiving a negative result, meaning
they did not have the genetic mutation, went on to have more biological children. Negative risks
constitute a heightened awareness of potential unknown dangers or hazards that then became a
major source of anxiety within the family (Hallowell et al., 2004). John and Katie were “hashing
out” the decision to have another biological child after their first child was diagnosed with Spina
Bifida and were on opposite sides, John thought the risk was too great to take and Katie was still
grieving the loss of not having another biological child.
Another factor in the decision-making process of the couples in this study was the
potential burdens on the family. During the interview several couples described a typical
day/week, the amount of care and resources needed for their affected child. Families were
dealing with several therapy appointments a week, multiple medications, and some couples were
dealing with diapers and/or catheters and enemas (in the case of Spina Bifida). Other couples
were dealing with behavioral issues and children who were unable to communicate. One father,
Robert, specifically commented on being worried about finding balance in giving enough
attention between children, which is reflected in the literature (Downing, 2005), and other
couples shared the same sentiment. Several couples expressed concern about who would take
care of their children after they were gone because many of them would need on-going care and
they did not want to burden other children or extended family.
Collecting Information to Inform Decision Making
A second theme echoed throughout the study was the need to gather information to make
an informed decision about future children. A study by Broadstock and Michie (2000) showed
that it isn’t clear what information is needed for an informed decision because each family may
find different information important. Some of the couples thought it was important to get genetic

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testing done, either for themselves or for their child. Many of those couples felt relieved when
the test came back negative and were more comfortable planning for future children.
Couples Lack of Decision Making Processes
The purpose of this study was to explore how couples communicate with each other
about having additional children and what experiences and factors contribute to their decisionmaking processes. The researcher assumed that once a couple received a genetic diagnosis for
their child, there would be a process for decision-making within a couple for having additional
children. This was not the case. Five of the nine couples included in the study learned that the
genetic disorder came from a spontaneous mutation and was not inherited from either parent. For
these couples the spontaneous mutation greatly lessened the risk of having another child with a
genetic disorder and the couples proceeded with future pregnancies.
Three of the nine couples in the study were already pregnant or had more children by the
time they received the genetic diagnosis, and most of the couples were done having children at
the time they received the diagnosis, which eliminated the need for any conversations about
future children. Several couples in the study acknowledged that having more children after the
diagnosis was not a deterrent because the couples already had experience in taking care of the
disorder and knew what to expect. This supports existing literature, where in a study done on
parents of children diagnosed with cystic fibrosis (CF), Ormond et al. (2007) found that the
majority of parents were likely to pursue (or had already pursued) future pregnancies because the
initial experience of diagnosis and care of a child with CF lessened any anxiety about caring for
future children with CF.
During the course of the interviews two themes emerged that were not overtly addressed,
ambiguous loss and resilience. Ambiguous loss is defined as an incomplete or uncertain loss

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(Boss, 2007). There are two kinds of ambiguous loss. In the first, people are perceived by family
members as being physically absent but psychologically present, like a soldier who is missing in
action or adopted children and their birth parents. In the second, people are perceived by family
members as physically present but psychologically absent, like in cases of substance abuse,
mental illness or chronic illness (Abrams, 2001). Boss and colleagues have identified several
areas of ambiguity that contribute to family distress in relationship to chronic illness: a) a lack of
clarity in diagnosis, b) difficulty in predicting outcomes, c) day to day changes in functioning of
the ill person that affect family relationships, d) the fact that the ill individual may give an
outward appearance of health thus raising expectations for his or her behavior and functioning
within the family, and e) fear that important emotional relationships will be affected by the
illness (O’Brien, 2007). Nancy highlights the ambiguity in predicting future outcomes, as she
describes the loss she feels for her son:
That's not--So it's been a lot of loss I think that I've, I've learned through this journey. The
loss of he's not gonna go to college. And he's not gonna get married. He's not gonna have
kids. And. He's not gonna be on his own. I don't know if he'll always be at home. I don't
know if he's eventually gonna be in a group home. You know. So it's that, that loss of
everything. (Nancy, son with Tuberous Sclerosis)
Being able to make sense out of the loss, the ability to maintain hope and to find some way to
change are all needed in order to resolve the loss, which expresses the essence of resilience.
Walsh (1998) defines resilience in families as the capacity to rebound from adversity,
strengthened and more resourceful. Many of the couples in this study either did not live close to
family or aging parents made it difficult to rely on them for much support, therefore the couples
needed to be resilient in how they managed day-to-day life. Kelly and Ben are a reflection of this

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resilience, in that they created a 501c3 organization in order to help fundraise for the care their
daughter with Tuberous Sclerosis needs.
Limitations
One limitation of this study is that eight of the nine couples interviewed were
retrospectively discussing their decision making about having more children after the diagnosis,
which may make it difficult to accurately remember every detail about their decision making
process. It is also possible that their current experience with raising an affected child within their
family changed the way they remembered past details. Only one couple was still in the process
of finalizing their decision about future children. Additionally, with a small sample size of only
nine couples, the results are only generalizable to these nine couples and not to the experiences
of other couples.
Another limitation was the lack of racial and ethnic diversity with 17 of the 18
participants identifying as White. Lastly, the genetic disorders that were included in this study
were inherited childhood genetic disorders and findings may not be generalizable to other
genetic disorders (e.g., spontaneous mutations). Five of the nine couples interviewed had a child
with a spontaneous mutation, three couples had an inherited mutation, and at the time of the
interview one couple had not been tested yet. All of the couples were interviewed conjointly in
their homes, and although there was an opportunity to observe the dynamics of the relationship
and what caretaking looked like, individual interviews might give each person the opportunity to
speak freely about their perceptions or views without needed to be sensitive to others’ reactions.
Conclusion and Implications
The couples in the study reported several factors that contributed to their decisions to
have future children after receiving a diagnosis of an inherited childhood genetic disorder,

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including the risks and burdens of having another affected child, who would take care of the
affected child when the parents were gone, caretaking issues like money, resources, and time,
and having determined that the parents are not genetic carriers. Several couples expressed the
need for more readily available resources during and after the diagnosis to help with decisionmaking for future children, such as: accurate information about the disorder, the genetic risks,
and subsequent care, so that couples are not left on their own to search the Internet; links to local
and national groups related to their disorder; and relationships with trusted health professionals
that can help them evaluate the risks of genetic testing balanced with the family’s health beliefs.
More research is needed in order to help genetic counselors and therapists to be a potential
resource for couples during a difficult time.

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CHAPTER 5: STUDY TWO
Couples’ Experiences in Family Adaptation After Their Child Receives a Diagnosis of
Childhood Genetic Disorder
ABSTRACT
As the human genome is more completely understood and new genetic tests are
developed to detect both the predisposition to, and the presence of, specific diseases, medical
professionals and family therapists are becoming more aware of the effect these tests will have
on family systems and on the health beliefs of the family. Once a diagnosis has been received,
families now have the task of making sense of the diagnosis and deciding on how the family
system needs to change or adapt in order to accommodate the genetic disorder.
The purpose of this qualitative study was to understand the couple’s experiences of
receiving the diagnosis of an inherited genetic disorder in a child, and how they as a couple, and
by extension, their family, adapted to that diagnosis. Nine couples from the Midwestern United
States were interviewed using a semi-structured, joint interview process. Using thematic analysis
and the couples’ own words, this study provides insight into couples’ experiences in family
adaptation after their child receives a diagnosis of an inherited genetic disorder. Three themes
emerged from the interviews in regards to what the family’s adaptation looked like after the
diagnosis: 1) the couples’ experiences of the diagnosis; 2) how families educated themselves
about the disorder; and 3) how the couple dealt with the transition. Implications for family
therapists are addressed.

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Introduction
Genetic testing in the United States started in an experimental laboratory the late 1950s
(Feetham & Thomson, 2006). Since the completion of the Human Genome Project in 2003,
genetic tests have become widely available, and at relatively low cost, for more than 1,000
genetic disorders (Feetham & Thomson, 2006). As the human genome is more completely
understood and new genetic tests are developed to detect both the predisposition to, and the
presence of, specific diseases, medical professionals and family therapists are becoming more
aware of the effect these tests will have on family systems and on the health beliefs of the family.
Families can know about a genetic diagnosis sooner than ever before and they can also learn
about the expected course of a disorder over time. Once a diagnosis has been received, families
now have the task of making sense of the diagnosis and deciding on how the family system
needs to change or adapt in order to accommodate the disorder. A genetic disorder diagnosis
brings an array of challenges to parents of a child with a genetic disorder, and depending on the
severity and prognosis, can lead to considerable stress on all in the family system. The purpose
of this study is to understand the couple’s experiences of receiving the diagnosis of a genetic
disorder in a child, and how they as a couple, and by extension, their family adapt to this
diagnosis.
Background
Emotional Roller Coaster for Parents
The literature points to how stressful this type of diagnosis is for parents. Studies describe
a wide array of emotions including anguish, bitterness, confusion, despair, devastation, disbelief,
distress, fear, grief, guilt, loneliness, numbness, sadness, shock, or upset (Strehl & Middlemiss,
2007, Nusbaum et al., 2008). Upon receiving the diagnosis of Fragile X Syndrome (FXS), most

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mothers recounted being on a “huge emotional rollercoaster” consisting of being devastated on
the one hand about the seriousness of the condition, and relieved on the other that their child had
a diagnosis (Visootsak et al., 2012). In a study done by Lord, Wastell, & Ungerer (2005),
researchers reported parents of a child diagnosed with Phenylketonuria, a manageable, inherited
childhood genetic disorder, as experiencing a mild trauma reaction when first learning about the
diagnosis and the related challenges. Fonseca, Nazare, and Canavarro (2014) found that for
parents, adjustment to a diagnosis i and a reduction in symptoms related to anxiety and
depression took about six months post diagnosis of a chronic illness.
Activities to Manage the Diagnosis
Managing the diagnosis requires many activities that invariably include frequent visits
with medical professionals. The literature suggests that the role medical professionals play
during the diagnosis and subsequent care of children is crucial. In several studies, it is very
common for parents to report that initial difficulties in obtaining clear, balanced, and useful
information about their unborn baby’s condition and future functioning contributed significantly
to their feelings of distress, confusion, and frustration. These findings support other studies
which have concluded that parents benefit most from receiving clear, balanced, up-to-date
written and verbal information, with follow-up appointments for further clarification (Helm et
al., 1998; Schuth et al., 1994; Statham et al., 2000). Parents now experience contact with healthcare providers as a vital connection to expertise, advice, reassurance, and healthcare instructions
(Grob, 2008). In one study, parents reported that positive encounters with doctors had a
significant impact on their coping, while negative encounters had an inverse effect on coping
(Chaplin, Schweitzer, & Perkoulidis, 2005). In another study, participants reported both negative
and positive experiences with their medical professionals; however, the negative experiences

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outnumber positive experiences 2.5 to 1, and as a result, this was still a net negative experience
for these parents (Goff et al., 2013).
The Long Term Burden of a Genetic Diagnosis on Families
Several studies suggest that for many genetic disorders, substantial burdens are created
for families, and these burdens are not time limited, but often endure for years and decades.
Some families report they live in a state of hyper vigilance, heightened anxiety, and emotional
exhaustion (Kratz et al., 2009). The psychosocial burden experienced by family members of
affected children may begin to wear on families over time. For example, some couples report
marital disharmony, limitations on their time, financial distress, and hindrance from enjoyment
of life (Panepinto et al. 2005; Tunde-Ayinmode 2007). For example, mothers of children with
Sickle Cell Disease (SCD) have commonly reported daily emotional challenges of constant fear
related to their children’s possible death, loss of control over their lives, and helplessness
(Wonkam et al., 2014). Pelchat (1993) found that the way in which one perceives the problem is
an important predictor of adaptation. The impact of chronic illness on family functioning and
how the family adapts is contingent on a range of factors including limitations to finances,
spouse and sibling relationships, extended family relationships, and the overall ability to cope
(Ashton, 2004). As families transition from the initial diagnosis to regular, ongoing care, one
study showed that every day life is often more stable in families that have dealt with a child’s
illness for a relatively long period of time (Trzcieniecka-Green, Bargiel-Matusiewicz,
Wilczynska, & Omar, 2015), and parents of children with a chronic illness eventually develop a
shared view of the illness, its management, and its impact on family life (Knafl & Zoeller, 2000),
which helps with the overall transition and adaptation of families coping with a chronic illness.

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Family Systems Illness Model
The Family Systems Illness Model (FSI) provides a systemic framework for assessing the
interaction of a disease or illness between an individual and the family system (Rolland, 1987b).
The model emphasizes the interface between time relative to disease progression and family
developmental phases, illness type, and components of family functioning (Rolland, 1987a). Not
unlike Bronfenbrenner’s Ecology Theory (Bubolz & Sontag, 1993), the FSI model highlights the
interactive nature between the type of illness/disability/loss, the individual, family, and illness
life cycles, and the family’s ability to cope. This model also highlights the family’s belief
systems, culture, ethnicity, spirituality, and gender configuration, wherein each one is nested in
the other (Rolland & Williams, 2006). The FSI model was originally developed to provide a
framework for the psychosocial types of chronic illness and disability before there was a need to
emphasize the genetic components of illnesses. Having an understanding of the family system’s
reactions to, behavior, and adaptation to illness over time and in relationship to different points
in the family life cycle, is crucial for the practitioner to help the family to navigate current and
future illness crises (Rolland, 1987a; Rolland & Williams, 2006). There are four key elements of
the family illness belief system: 1) the family’s sense of mastery and control over the illness; 2)
the family’s multigenerational evolutionary process with illness, loss, and crisis; 3) the family’s
ethnic, cultural, and religious beliefs; and 4) the family’s assumptions about the etiology of
illness (Rolland, 1987b).
Purpose of the Study
The purpose of the current study is to achieve three specific goals in interviews of a
sample of nine couples. These goals were all informed by Rolland’s Family Systems Illness
Model (1987). First, to understand the couple’s experience of how their family adapted to the

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diagnosis of an inherited genetic disorder in one of their children, while taking into consideration
the families’ history, cultural background, and religious background. Second, how the family
faced and overcame the transitions and related psychosocial challenges that came with a
diagnosis of a chronic illness. Third, how the families worked to overcome the assumption about
illness and educated themselves as to the etiology and life course of the illness and how this
helped them in adaptation to the diagnosis as a family unit.
Methods
Sample
Following approval from the Michigan State University (MSU) Institutional Review
Board (IRB), couples were recruited using purposive sampling through a “call for participants”
message posted on a Facebook group associated with a particular inherited childhood genetic
disease or disorder. Nine couples responded and were interviewed. See Table 1 for a more
complete description of the participants.
Participants came from one of the following three genetic disorders: Spina Bifida,
Tuberous Sclerosis, and Fragile X. Spina Bifida is the most common permanently disabling
birth defect in the United States and happens when the baby is in the womb and the spinal
column does not close all of the way. It is sometimes called the “snowflake disorder” because no
two cases look the same, and can result in mobility problems, bladder, bowel, or gastrointestinal
disorders, and learning disabilities (www.spinabifidaassociation.org).
Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in
many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of
TSC that most strongly impact quality of life are generally associated with the brain: seizures,
developmental delays, intellectual disabilities, and autism spectrum disorder

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(www.tsalliance.org).
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability,
behavioral and learning challenges, and various physical impairments. Though FXS occurs in
both genders, males are more frequently affected than females, and generally with greater
severity. Life expectancy is not affected in people with FXS because there are usually no lifethreatening health concerns associated with the condition (www.fragilex.org).
Of the nine couples interviewed, three couples had a child with Spina Bifida, three
couples had a child(ren) with Fragile X, and three couples had a child with Tuberous Sclerosis
Complex. Seven of the nine couples had children after their first child was diagnosed, two
couples were considering adoption at the time of the interview.
Data Collection
After couples provided informed consent and completed a demographics questionnaire, a
face-to-face semi-structured interview was conducted with both the husband and wife present.
Couples who participated in study were given a $50 gift card for their participation. All
interviews were audio recorded and later transcribed verbatim by the researcher. The interviews
were designed to elicit the couples’ experiences regarding what thoughts, feelings, and events
contributed to a couple’s decision to have additional children after already having a child
diagnosed with a genetic disorder, how couples communicated with each other about having
additional children, and what factors contributed to their decision-making process. Questions
were also focused around couples experiences after receiving the diagnosis, cultural, religious,
and multigenerational factors in their decisions around the diagnosis, and their approach to
overcoming barriers and challenges related to the diagnosis.
In all of the interviews the children were present for the entire interview. This was

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because of the unique childcare needs of these families. Sensitive information that would have
been disturbing to the child was not discussed in his/her presence.
Data Analysis
Audiotaped interviews were transcribed verbatim, all identifying information was
removed from the transcripts, and each participant was assigned a study number. Thematic
content analysis was used to analyze each of the interviews (Braun & Clarke, 2006) and NVivo
software was used to organize codes and themes that emerged from the data. Thematic analysis
is a qualitative method for analyzing data that identifies patterns or “themes” within a data set
that provides rich and detailed descriptions and is well suited for health research (Vaismoradi,
Turunen, & Bondas, 2013). Braun and Clarke (2006) provide a thorough step-by-step guide to
doing thematic analysis that the author followed in this study. First, the author familiarized
herself with the data through reading and re-reading the interviews several times as well as
listening to the audio recordings and jotting down initial impressions. Next, she read through
each interview and coded interesting features of the data by providing labels to these features,
followed by grouping these codes/labels into relevant themes. Ultimately the codes were
reviewed to ensure they fit within the theme and the theme was given a name.
In order to establish trustworthiness, the author worked closely with another colleague on
the coding of interviews and consulted on themes that emerge, using a constant comparative
method to check the consistency of the coding and establish inter-rater reliability. Qualitative
researchers should provide detailed descriptions of the phenomena they study and their context
(King & Horrocks, 2010). These “thick descriptions” help to ensure that the analysis is consistent
with the narrative being presented and that dependability is established. The couple’s own words
are used when describing a particular theme.

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Results
Experiences of Diagnosis
Realizing the Permanence of the Condition: Processes Leading to Acceptance. This
study sample incorporated two time phases of the Family Systems Illness Model (FSI), the crisis
phase and the chronic phase. According to Rolland, one of the transitions couples face in the
crisis phase in having a child with a chronic illness is the recognition of the permanence of the
condition. All of the disorders represented in this study had different manifestations and different
levels of required care which affected the experiences of the couples. For Oliver and Holly,
talking with a medical professional helped them understand more about their son’s Fragile X
condition. Holly had unofficially know she was a carrier for Fragile X since she was 16 years old
(her dad was a carrier for disorder so they assumed Holly was as well) but never got officially
tested until after she was pregnant with their first child, who ended up with a Fragile X
diagnosis. As a carrier she never expressed and signs or symptoms of the disorder, so talking
with the doctor allowed Holly and Oliver to face up to the hard reality that this was a diagnosis
that had a great deal of stressful ramifications:
It was the first time we ever talked to anyone. I mean it was emotional because it was a
lot of like hard news. But it was the first time we ever talked to anyone that was like, oh
all these things that your kid does that are, you don't know how to deal with, here's how
to deal with them. Here's what--yes, he's not weird. There's a bunch of other kids that do
this. So, he had some weird tics and quirks that were like, yeah that's [son]. And she
[doctor] was like no that's all Fragile X. So it was interesting to kind of get--to get that,
you know, to get some good tools to help us out with that. (Oliver, son with Fragile X)

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Some of the couples in the study shared how important it had been to meet with other families
who were dealing with same disorder, and how this helped them to assimilate to the news of the
diagnosis:
We met with some people that had kids that were supposedly of like similar lesion levels
with our son…we met with the Spina Bifida community at the zoo and met some great
families and kind of started to see things kind of – like that was kind of our – like that first
week was just horrendous and then that weekend, we kind of started to pull in some pieces
that got us through the next couple of weeks. (Janet, son with Spina Bifida)
Katie and John also said they met with another Spina Bifida family while Katie was pregnant,
which helped initially to calm their anxiety about care so soon after receiving the diagnosis, but
it wasn’t until John’s parents started to share their research “findings” that the reality of the level
of care needed for their daughter started to set in. Katie and John viewed this support as helpful,
even though some of the information communicated by family members was inaccurate or
misunderstood:
John: First thing my mom told me after she Googled it was not all the doors in my house
are 30 inches wide. We will fix that before she gets old enough. (Katie laughs)
Katie: And I'm like (laughs)
John: I don't know if she's gonna be old enough. (laughs)
Katie: I think we were first like for what? She's not gonna be fat. (laughs) Oh! For
wheelchairs. And then it hit me like oh wait she's gonna be in a wheelchair. (laughs) Like
maybe possibly. Okay. (John and Katie, daughter with Spina Bifida)

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For Rachel and Zach, as they began to get settled into managing both of their children’s chronic
illness, Rachel realized how much her role was changing. Acceptance of these new roles was a
big component of acceptance of the diagnosis in the child:
I think for me, I lost the role as parent because parent was a privilege. Now at that point
when they were diagnosed, the doctor came first. So I had to become a doctor. I had to
become a therapist. I had to learn speech therapy, occupational therapy, physical therapy.
Again, how does [daughter’s] brain work, how does [other daughter’s] brain work. And I
remember sitting down one day and said I just want to be a mom. (Rachel, two daughters
with Fragile X)
The loss Rachel shared in not feeling like a mom the majority of the time due to the level of care
both of her daughters required is echoed throughout many of the interviews and highlights the
next transition in the crisis phase of the FSI Model, processing loss and redefining normality.
From Diagnosis to Acceptance: Processing Loss and Redefining Normality. Another
transition couples face in having a child with a chronic illness is finding a new normal, what the
day to day activities may look like, from daily medications and therapy appointments to regular
medical care. Janet describes what is needed in order for their son simply to use the bathroom
every day:
At some point, a lot of these kids undergo surgery where there’s a hole in the belly button
or something on their part of the stomach where they insert a cath and then push the
water in, so it’s pushing everything out as oppose to right now, we literally hold the cone
in his butt that we then push water up and then it sits there for 5 to 10 minutes and then
we pull it out and stuff comes out over the next course of 30 minutes to an hour. So, yes,
that’s something that he will have to do for the remainder of this life. We do a morning

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routine with him. And then we change diapers all day for him because he doesn’t have
bladder controlled so he leaks all day. He does not cath. A lot of these kids have to be
cathed. So, he’s not trainable in terms of a potty and won’t ever be to our understanding
of how everything works. (Janet, son with Spina Bifida)
David confirmed that he gets up extra early with their son to give him the enema and sit with him
for 30 minutes before he has to go to work while Janet gets the rest of their children ready for the
day. This process was just one described activity and as is evident, it represents a high level of
stress for families, activities that needed to be built into already stressful lives. Nancy and Robert
described the amount of planning it takes to simply get out of the house:
I can't just oh let's go to my friend’s house and take you know a change of clothes and
their tennis shoes. It's, you know, diapers, wipes. He doesn't eat everything. So I gotta
make sure do I have snacks for him to eat? When you go out in public…are there people
nearby that he's gonna swat at? Just, you know, just talking. Or are his noises gonna
bother people? I went to a water splash pad. My friends were sitting on the bench chit
chatting with each other. I'm chasing my kid around because I can't let him by himself.
And nobody noticed. Nobody came near me. They didn't move up and talk to me.
(Nancy, son with Tuberous Sclerosis)
Nancy particularly highlights the loss that is felt as the relationships with her friends have
changed as she continues to adapt to the new normal of life with a child who has a chronic
illness.
While all of the couples reported a level of ongoing medical or therapeutic treatment they
needed to attend to every day, many of the couples were looking into the future as the redefined
normality, and had to readjust their views of dreams and expectations for their child:

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I mean I had all these intentions of taking her to classes at the library and, you know,
taking her to swim lessons and play dates with friends. There are still the things we
haven’t, that haven’t come to yet, you know? The things you think that are going to
happen as a parent. Seeing your child walk across the stage in their cap and gown. See
them go on their first prom date. See them get married. I’m never going to see those
things. Sucks. Never say never but. (Jen, daughter with Spina Bifida)
Jen’s daughter is nonverbal and confined to a wheelchair, although she is able to communicate
via a type to speak program on her iPad. She is currently in a mainstream classroom with
children her age because it is still developmentally appropriate but Jen realizes her daughter may
have to stay behind or switch to a special needs class as the other children move up in grades.
That's not--So it's been a lot of loss I think that I've, I've learned through this journey. The
loss of he's not gonna go to college. And he's not gonna get married. He's not gonna have
kids. And. He's not gonna be on his own. I don't know if he'll always be at home. I don't
know if he's eventually gonna be in a group home. You know. So it's that, that loss of
everything. (Nancy, son with Tuberous Sclerosis)
Holly: [Son] didn't like birthdays. He doesn't like it when people sing happy birthday. He
didn't it even like opening presents. It was so much anxiety for him. So for his fifth
birthday we took him to the store and let him pick out toys. Which is like a weird thing.
Like it's not what you expect of a parent but--but we didn't sing happy birthday to him.
We did what he wanted though and everyone had a great time. But that's not something
you would expect, you know? Changing your expectations to fit the reality of your
situation.

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Oliver: What she [Holly] was talking about with the expectations, that was a big thing. It
was like every event we had for so long. She would just come home and cry and just be
like sad. (Oliver and Holly, son with Fragile X)
How Families Educated Themselves
Relationships With Health Professionals. One key aspect to coping with the chronic
illness and finding meaning for the disorder lies in the relationship the couples have with health
professionals. All of the couples reported at least one good relationship with a health
professional, whether it was a doctor, speech therapist, or occupational therapist:
We really value Dr. Z and he's-- I mean, I, I saw him one day in a parking lot. Like what?
Two years ago? I think. I was out grabbing lunch. He came out of the store next door. I
said hey Dr. Z. He's like hey [wife], how are ya? How's [son]? [Son] was nowhere
around. And I said oh he's okay but he's developed these new seizures. And he goes well
tell me about them. This is in a parking lot. So he knows his patients. (Nancy, son with
Tuberous Sclerosis)
Ben and Kelly explained the benefit of being linked in to a specialty clinic and the differences
in care between the clinic and local doctors:
They are so stinking fantastic, I don’t know -- they’ve tried to do a clinic at [local town]
which the doc who is the head of it worked under the group in [major city]. So he is
familiar with it. And they are so epically failing at this clinic and I'm like okay, I'm going
to give you the benefit of our being here so that you can learn. But I'm not getting -- you
are not allowed to boot me out of this other office. I won't give that up because [major
city] knows -- they're involved in such a deeper level of stuff with TSC, than our local --

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even the local pediatric doctors. So it’s just a whole different level down there. It’s just
amazing. (Kelly, daughter with Tuberous Sclerosis).
Kelly and Ben live in a rural area where they have to travel an hour to visit their local doctor, let
alone having to stay overnight when they travel to the specialty clinic, but the couple recognizes
the importance of the level of care and peace of mind they receive from the specialty clinic.
Personal Research. Another key aspect to coping with the chronic illness and finding
meaning for the disorder is found in being well-informed about symptoms, behaviors, and
treatment options. For many of the couples in this study, their child’s diagnosis was their first
introduction to the disorder and they needed to learn as much as they could about their child’s
condition. While some of the health professionals were a helpful resource, for Rachel and Zach,
the doctors knew as much as the couple did about the disorder:
So the answer the doctors gave us was Mr. and Mrs. Simon, we’re going to be very
honest with you. We don’t know. We don’t know about girls. We can’t give you any
answers. …at night the kids were sleeping, when they finally did sleep, I read every
research paper there was. I tried to figure this out and first I had to figure out how a
normal brain functioned. And then I had to figure out how the girls’ brain is functioned
and I figured out they don’t work at all the same. (Rachel, two daughters with Fragile X)
Many couples in the group also turned to the national organization or local, specialized Facebook
groups for information and resources about managing the day-to-day care aspect of their
disorder:
We belong to the Spina Bifida Association, Spina Bifida Association of Michigan, so we
have some people in like situations that we can bounce ideas off and stuff like that. Some

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of the Facebook groups are extremely helpful. I mean there’s a whole Facebook group
on just bowel management. All we talk about is poop. (Janet, son with Spina Bifida)
Facing and Overcoming Transitions
Managing Relationship Imbalances. A major transition couples faced in living with the
diagnosis was in dealing with relationship imbalances that occurred with every transition brought
upon by the diagnosis. Once couples and families have made it through the disruptions of the
crisis phase, they move into the “long haul” or chronic phase, wherein which the couple has to
face and address the day to day living with the chronic illness, while at the same time carrying
out the tasks of their regular lives. One important task from this phase is how couples will
manage relationship imbalances. Two of the husbands, David and Steve, shared how the
relationship with their wife shifted after the diagnosis, and how they no longer felt as important
as they had before the diagnosis:
Janet: I mean I definitely think we give more to our kids than each other, for sure. I mean
that’s a change in our roles.
David: For dynamics wise, she’s definitely [son’s] mom first, the rest of their mom,
second and so I think what I said my wife third because I think that’s how it probably
plays out in our family. (David and Janet, son with Spina Bifida)
David described with such sadness how his relationship with Janet has changed, as if he wished
things could be different, and implied that they might need couples’ therapy to work on
improving their relationship. On the other hand, Steve described the relationship imbalance with
Kristen in a very matter of fact manner:
You figure out a way to do it between the two of you. And you kind of get used to
coming last. I mean Kristen feels the same is that, throughout the day, the girls always

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come first. Then you try and take care of your problem and then you come last. That’s
just the way it is. Even the dogs come before us because they're also going get fed
and…So you kind of just get used to it. And then your relationship certainly goes into
the back burner. I mean we have not spent a night away from the girls in 3 years. (Steve,
daughter with Tuberous Sclerosis)
In contrast, and in spite of these role imbalances, most of the couples in the study reported the
relationship with their spouse had grown stronger, and that they were closer and they are more
supportive of each other than they were prior to the diagnosis. Several of the couples shared that
one of the reasons they are more supportive of each other is because they have no only else to
rely on. Two of the couples did not live close to family, while others felt a little more insulated
from the rest of the world:
I know that it’s changed, but I know we -- I think we do, I hope we do rely on each other.
I feel like we’re more isolated from other families. We don’t get a chance to -- we don’t
have the friendships that most families have. You see the neighbors going out and they're
chumming with each other and I'm like -- if my kids are having a bad night, I can't go out
and visit because I’ve got to sit here and monitor for behaviors or seizures or it’s almost
med time. (Kelly, daughter with Tuberous Sclerosis)
Several couples also shared how important communication was in maintaining relationship
balance within the marriage:
We really slow down. I think we really slow down on the--when we're having arguments
because we wanna make sure we're both communicating very clearly. Especially with her
care. We both, at least I think, we both take the time to research and form our own

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opinions and our own process through everything basically. John’s much more on the
logical side and the scientific side. (Katie, daughter with Spina Bifida)
Rachel and Zach shared how they initially had difficulty as they were moving into the chronic
phase and learning how to maintain their connection. This couple has two teenage daughters
living with Fragile X who have severe mental delays and one does not communicate verbally.
They received the girls’ diagnoses almost simultaneously and immediately jumped into crisis
mode, learning how to manage the girls’ disorder. Rachel said for a period of time she didn’t feel
as close to her husband:
And so in a way that sent me down at the time almost a road of depression towards him
and anger saying how can you give up. And he wasn’t giving up. But to me, I felt like
he was giving up and it's like okay, I’ve got to do this all on my own. I’ve got to figure
this out. And I would get so frustrated because he would come home and I would have,
maybe a half an inch of paper work saying, okay, this is all medical jargon. Teach me
what this means. It’s like I just worked 14 hour days. I can't do this. So I think -- maybe
3 years there that I was very angry because I felt like I was in this healing process alone.
Now that’s not what his thoughts were, but that’s where my thoughts were. (Rachel, two
daughters with Fragile X)
Zach recognized his wife’s feelings at the time, especially as they were trying to make sense of
the diagnosis for the family. When Rachel was feeling alone, he had this response:
I said sweetheart, I told you I loved you. Whatever day I told you I loved you the first
time, I don’t remember when it was, this was way before we got married. And I told you
I’d love you forever. And I didn’t say I love you if our kids were all running around

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quoting scripture and winning Nobel Prizes. I said I would love you and there was period
at the end of that sentence. (Zach, two daughters with Fragile X)
Figuring Out Family Identity. Another component of managing transitions and the
diagnosis was figuring out a new identity as a family and adapting this identity throughout the
life cycle. Couples and families also need to learn how to make sense of the diagnosis and what
it meant for their family. Two of the families, both with a Tuberous Sclerosis diagnosis, spoke of
how their identity is connected to the diagnosis and day-to-day care. In essence, the family
organized itself and its identity around the illness and the activities required by the diagnosis.
Kelly and Ben, who did not have a lot of family support to help them out and who worked hard
to get the necessary treatment for their daughter, saw themselves as an official “Team”, became a
501c3 organization and put on several organized fundraisers under this “Team” identity. Steve
and Kristen had the opposite opinion in terms of identity:
I think a lot of these families, who have a member who is affected with TS, they kind
consumes them up, it’s kind of like the identity, I have a child with TS and I'm going to
go first and then they are so focused on this TS they tend to lose sight of what’s going on
around them. They are the people who have children with the same condition, but they
remain with one little enclave and that is their sole focus, is they lean on these people to
support them and then look after the child with TS. They forget that there’s a big world
out there, TS does not define you. (Steve, daughter with Tuberous Sclerosis)
Discussion
A genetic disorder diagnosis brings an array of challenges to parents of a child with a
genetic disorder, and depending on the severity and prognosis, can lead to considerable stress on
all in the family system. This study provides insight into couples’ experiences in family

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adaptation after their child receives a diagnosis of an inherited genetic disorder. Three themes
emerged from the interviews in regards to what the family’s adaptation looked like after the
diagnosis: 1) the couples’ experiences of the diagnosis; 2) how families educated themselves
about the disorder; and 3) how the couple dealt with the transition.
Experiences of Diagnosis
The couples’ experiences of the diagnosis can be broken down into two parts: Realizing
the permanence of the condition, the processes leading to acceptance and processing loss and
redefining normality. Many couples in this study found talking with doctors about the diagnosis
and subsequent treatment was helpful in understanding the permanence of the condition and
accepting how life might have to change. Some of the couples were able to meet with other
families who had the same disorder and got a glimpse into what the day-to-day care could look
like. Those couples said the meetings were helpful because the unknown became less scary and
they were able to visualize what it might be like to care for their child’s condition.
Another part of the diagnosis experience was processing loss and redefining normality.
During this phase many families experienced anticipatory loss, which refers to the experience of
living with possible, probable, or inevitable future loss (Rolland, 2006). Many of the couples
addressed the loss of future dreams for their children, the idea that their child may never get
married, have children, or even live on their own. Nancy described how sad she felt that her
friendships were changing, that she wasn’t able to have a “normal” friendship because her son
required so much care when they went out, and most of her friends did not know how to relate to
her anymore. In redefining normality, every family’s “normal” was different and organized
around the care needed for the affected child(ren), whether it was simply helping them to use the
bathroom, as was the case for the Janet and David, or for most of the families it was education

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plans at school or taking them to multiple therapy and doctor’s appointments on a weekly basis.
How Families Educated Themselves
For most of the couples in this study, this was the first encounter they had with this
disorder and they had no idea what they were to face in the coming years. The literature reflects
that parents who reported positive encounters with doctors had a significant impact on their
coping, while negative encounters had an inverse effect on coping (Chaplin, Schweitzer, &
Perkoulidis, 2005). Several couples described how important the relationship with their health
professionals was in not only understanding the diagnosis but also understanding what kind of
ongoing care would be needed for their child. A few couples described a negative experience
with health professionals, receiving inaccurate information about inheritance rates and doctors
who knew little about the disorder. Chris and Jen, whose daughter has Spina Bifida, shared that
the doctor who diagnosed their daughter used the out of date term “water head” to describe the
disorder. Several couples also reported feeling pressured to terminate a pregnancy or consider
not having any more children after receiving a diagnosis.
During this time of uncertainty, most of the couples also turned to the Internet to find out
more information about their particular disorder and to start to locate resources. All of the
couples were recruited through the Facebook group related to their disorder, and many of these
couples felt these groups were invaluable resources for information, especially relating to the
day-to-day care of their child.
Facing and Overcoming Transitions
According to the literature, a transition’s time span extends from the first signs of change
(diagnosis), through the period of instability (crisis phase), until a new stability has been
achieved (chronic phase) (Messias et al., 1995). Two major transitions couples face in living

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with the diagnosis of a genetic disorder are managing relationship imbalances and figuring out
family identity. In managing relationship imbalance, some of the fathers, like David and Steve,
pointed out how the relationship with their spouse had changed and they felt less of a priority.
Some of the couples also described a lack of connection with their spouse, but all of the couples
alluded to being okay with imbalance because the needs of their children should come first.
Despite these imbalances most of the couples reported their relationship was stronger and they
were more supportive of each other. One reason for this is many of the families felt isolated and
had no one else to rely on for help, as highlighted by the quotes above. Several couples
mentioned how important communication was with each other as a way to overcome the
relationship imbalances.
Another transition experienced by couples in this study was figuring out a new family
identity in light of the diagnosis. Two families, both with a Tuberous Sclerosis diagnosis, had
differing points of view in terms of their family identity: for Kelly and Ben, the entire family
organized themselves around the illness and activities required by the diagnosis, proudly
identifying as a “team” for their daughter and the illness. The other family, Kristen and Steve
were very bothered by families whose entire identity was wrapped up in the disorder and was
making sure that disorder would not be what defines their daughter but only a part of who she is.
Limitations
The purpose of this study was to understand the couples’ experiences in adaptation after a
diagnosis of a childhood genetic disorder, and although disorders that were either inherited or
spontaneous mutations were included the study was not meant for a direct comparison of the two
and therefore may be a limitation to this study. There was a diverse sample in terms of reported
resources (income, support) and we were not looking at whether or not more resources aided in

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better adaptation. Additionally, with a small sample size of only nine couples, the results are only
generalizable to these nine couples and not to the experiences of other couples. Another
limitation of this study is the lack of racial and ethnic diversity with 17 of the 18 participants
identifying as White.
All of the couples were interviewed conjointly in their homes, and although there was an
opportunity to observe the dynamics of the relationship and what caretaking looked like,
individual interviews might give each person the opportunity to speak freely about their
perceptions or views without needed to be sensitive to others’ reactions.
Implications
This study emphasized the significance of having a good relationship with a health
professional the families trust in learning to accept the permanence of the disorder of their child
and in redefining the family’s normality. Since family therapists are trained to work with
multiple relationships, they can help guide families who are working with an interdisciplinary
health care team to help meet the families’ needs at any point during the process, from
considering to test to ongoing medical care.
Communication about genetics and chronic illness is an ongoing process, not a one-time
conversation (Wilson, et al., 2004), and family therapists can help provide a forum for the family
to discuss their feelings and their needs as more details about an illness emerge or other relatives
may need to be contacted. In this study, communication was a vital component in the couples’
processing of their child’s diagnosis and in redefining the family’s normality. Shared health
beliefs help family members find meaning in their illness experience, whether current or future,
and help guide decisions and actions (Rolland, 2006). Family therapists offer families an
opportunity for ongoing discussion about the families’ health beliefs and communication

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approaches to disseminating genetic information to extended family members. These discussions
may also serve as social support functions to build relational bonds and to facilitate coping
among family members (Peterson, 2005).
Conclusion
A genetic disorder diagnosis brings an array of challenges to parents of a child with a
genetic disorder, and depending on the severity and prognosis, can lead to considerable stress on
all in the family system. Having a trusted relationship with health professionals and access to
accurate and informational resources helped these families navigate through the process of
adaptation after a diagnosis and through the transition of finding the normal.

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CHAPTER 6: CONCLUSION
Contributions of the Current Studies to Existing Research
As the human genome is more completely understood and new genetic tests are developed to
detect both the predisposition to, and the presence of, specific diseases, medical professionals
and family therapists are becoming more aware of the effect these tests will have on family
systems and on health beliefs of the family. Scientists have discovered the genetic link to over
one thousand disorders and medical conditions and continue to work on finding new links every
year. This is important for families because we are now able to understand even more about our
health, sometimes before ever experiencing any symptoms of disease. Prenatal testing for genetic
conditions/mutations is also available to individuals and families, which allows couples the
opportunity to learn if their child has a genetic condition and what treatment options are
available for such condition. The literature points to how stressful a genetic diagnosis in children
is for parents (Strehl & Middlemiss, 2007, Nusbaum et al., 2008). The results of the current two
studies explain the factors that contribute to the decision-making processes of families regarding
genetic testing and the process of adaptation families experience after the diagnosis of a genetic
disorder.
Decision Making Processes of Families Regarding Genetic Testing
Evaluation of the Risks and Burdens for the Future. This study reflects the
experiences of nine couples that made or are in the processing of making a stressful and
emotional decision regarding having another biological child knowing there was a genetic risk to
future children. Many common genetic conditions occur in families with no previous family
history or experience of the disorder (Collins & Williamson, 2003). Eight of the nine couples

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interviewed had no knowledge of genetic conditions in their families prior to having children.
Holly and Oliver, who knew about their potential genetic risk, reported having some
conversations about the risk prior to having children but Holly did not get tested until she was
pregnant with their first child (she found out when she was 16 she was potentially a carrier for
Fragile X).
Risks. One of the themes echoed throughout this study is the evaluation of the risks and
burdens for the future that couples used as part of their decision-making processes for future
children. The couples in the study identified several positive and negative risks. Positive risks
help families predict the likelihood of events occurring in the future and allow the family to feel
empowered and more in control of their actions and medical destiny (Hallowell et al., 2004).
Some of the couples decided to get genetically tested and in receiving a negative result, meaning
they did not have the genetic mutation, went on to have more biological children. Negative risks
constitute a heightened awareness of potential unknown dangers or hazards that then became a
major source of anxiety within the family (Hallowell et al., 2004). John and Katie were “hashing
out” the decision to have another biological child after their first child was diagnosed with Spina
Bifida and were on opposite sides, John thought the risk was too great to take and Katie was still
grieving the loss of not having another biological child.
Burdens. Another factor in the decision-making process of the couples in this study was
the potential burdens on the family. During the interview several couples described a typical
day/week, the amount of care and resources needed for their affected child. Families were
dealing with several therapy appointments a week, multiple medications, and some couples were
dealing with diapers and/or catheters and enemas (in the case of Spina Bifida). Other couples
were dealing with behavioral issues and children who were unable to communicate. One father,

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Robert, specifically commented on being worried about finding balance in giving enough
attention between children, which is reflected in the literature (Downing, 2005), and other
couples shared the same sentiment. Several couples expressed concern about who would take
care of their children after they were gone because many of them would need on-going care and
they did not want to burden other children or extended family.
Collecting Information to Inform Decision Making. A second theme echoed
throughout the study was the need to gather information to make an informed decision about
future children. A study by Broadstock and Michie (2000) showed that it isn’t clear what
information is needed for an informed decision because each family may find different
information important. Some of the couples thought it was important to get genetic testing done,
either for themselves or for their child. Many of those couples felt relieved when the test came
back negative and were more comfortable planning for future children.
Couples Lack of Decision Making Processes. The purpose of this study was to explore
how couples communicate with each other about having additional children and what
experiences and factors contribute to their decision-making processes. The researcher assumed
that once a couple received a genetic diagnosis for their child, there would be a process for
decision-making within a couple for having additional children. This was not the case. Five of
the nine couples included in the study learned that the genetic disorder came from a spontaneous
mutation and was not inherited from either parent. For these couples the spontaneous mutation
greatly lessened the risk of having another child with a genetic disorder and the couples
proceeded with future pregnancies.
Three of the nine couples in the study were already pregnant or had more children by the
time they received the genetic diagnosis, and most of the couples were done having children at

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the time they received the diagnosis, which eliminated the need for any conversations about
future children. Several couples in the study acknowledged that having more children after the
diagnosis was not a deterrent because the couples already had experience in taking care of the
disorder and knew what to expect. This supports existing literature, where in a study done on
parents of children diagnosed with cystic fibrosis (CF), Ormond et al. (2007) found that the
majority of parents were likely to pursue (or had already pursued) future pregnancies because the
initial experience of diagnosis and care of a child with CF lessened any anxiety about caring for
future children with CF.
During the course of the interviews two themes emerged that were not overtly addressed,
ambiguous loss and resilience. Ambiguous loss is defined as an incomplete or uncertain loss
(Boss, 2007). There are two kinds of ambiguous loss. In the first, people are perceived by family
members as being physically absent but psychologically present, like a soldier who is missing in
action or adopted children and their birth parents. In the second, people are perceived by family
members as physically present but psychologically absent, like in cases of substance abuse,
mental illness or chronic illness (Abrams, 2001). Boss and colleagues have identified several
areas of ambiguity that contribute to family distress in relationship to chronic illness: a) a lack of
clarity in diagnosis, b) difficulty in predicting outcomes, c) day to day changes in functioning of
the ill person that affect family relationships, d) the fact that the ill individual may give an
outward appearance of health thus raising expectations for his or her behavior and functioning
within the family, and e) fear that important emotional relationships will be affected by the
illness (O’Brien, 2007). Nancy highlights the ambiguity in predicting future outcomes, as she
describes the loss she feels for her son:

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That's not--So it's been a lot of loss I think that I've, I've learned through this journey. The
loss of he's not gonna go to college. And he's not gonna get married. He's not gonna have
kids. And. He's not gonna be on his own. I don't know if he'll always be at home. I don't
know if he's eventually gonna be in a group home. You know. So it's that, that loss of
everything. (Nancy, son with Tuberous Sclerosis)
Being able to make sense out of the loss, the ability to maintain hope and to find some way to
change are all needed in order to resolve the loss, which expresses the essence of resilience.
Walsh (1998) defines resilience in families as the capacity to rebound from adversity,
strengthened and more resourceful. Many of the couples in this study either did not live close to
family or aging parents made it difficult to rely on them for much support, therefore the couples
needed to be resilient in how they managed day-to-day life. Kelly and Ben are a reflection of this
resilience, in that they created a 501c3 organization in order to help fundraise for the care their
daughter with Tuberous Sclerosis needs.
Family Adaptation Process After a Diagnosis
Experiences of Diagnosis. The couples’ experiences of the diagnosis can be broken
down into two parts: Realizing the permanence of the condition, the processes leading to
acceptance and processing loss and redefining normality. Many couples in this study found
talking with doctors about the diagnosis and subsequent treatment was helpful in understanding
the permanence of the condition and accepting how life might have to change. Some of the
couples were able to meet with other families who had the same disorder and got a glimpse into
what the day-to-day care could look like. Those couples said the meetings were helpful because
the unknown became less scary and they were able to visualize what it might be like to care for
their child’s condition.

89

Another part of the diagnosis experience was processing loss and redefining normality.
During this phase many families experienced anticipatory loss, which refers to the experience of
living with possible, probable, or inevitable future loss (Rolland, 2006). Many of the couples
addressed the loss of future dreams for their children, the idea that their child may never get
married, have children, or even live on their own. Nancy described how sad she felt that her
friendships were changing, that she wasn’t able to have a “normal” friendship because her son
required so much care when they went out, and most of her friends did not know how to relate to
her anymore. In redefining normality, every family’s “normal” was different and organized
around the care needed for the affected child(ren), whether it was simply helping them to use the
bathroom, as was the case for the Janet and David, or for most of the families it was education
plans at school or taking them to multiple therapy and doctor’s appointments on a weekly basis.
How Families Educated Themselves. For most of the couples in this study, this was the
first encounter they had with this disorder and they had no idea what they were to face in the
coming years. The literature reflects that parents who reported positive encounters with doctors
had a significant impact on their coping, while negative encounters had an inverse effect on
coping (Chaplin, Schweitzer, & Perkoulidis, 2005). Several couples described how important the
relationship with their health professionals was in not only understanding the diagnosis but also
understanding what kind of ongoing care would be needed for their child. A few couples
described a negative experience with health professionals, receiving inaccurate information
about inheritance rates and doctors who knew little about the disorder. Chris and Jen, whose
daughter has Spina Bifida, shared that the doctor who diagnosed their daughter used the out of
date term “water head” to describe the disorder. Several couples also reported feeling pressured
to terminate a pregnancy or consider not having any more children after receiving a diagnosis.

90

During this time of uncertainty, most of the couples also turned to the Internet to find out
more information about their particular disorder and to start to locate resources. All of the
couples were recruited through the Facebook group related to their disorder, and many of these
couples felt these groups were invaluable resources for information, especially relating to the
day-to-day care of their child.
Facing and Overcoming Transitions. According to the literature, a transition’s time
span extends from the first signs of change (diagnosis), through the period of instability (crisis
phase), until a new stability has been achieved (chronic phase) (Messias et al., 1995). Two major
transitions couples face in living with the diagnosis of a genetic disorder are managing
relationship imbalances and figuring out family identity. In managing relationship imbalance,
some of the fathers, like David and Steve, pointed out how the relationship with their spouse had
changed and they felt less of a priority. Some of the couples also described a lack of connection
with their spouse, but all of the couples alluded to being okay with imbalance because the needs
of their children should come first. Despite these imbalances most of the couples reported their
relationship was stronger and they were more supportive of each other. One reason for this is
many of the families felt isolated and had no one else to rely on for help, as highlighted by the
quotes above. Several couples mentioned how important communication was with each other as
a way to overcome the relationship imbalances.
Another transition experienced by couples in this study was figuring out a new family
identity in light of the diagnosis. Two families, both with a Tuberous Sclerosis diagnosis, had
differing points of view in terms of their family identity: for Kelly and Ben, the entire family
organized themselves around the illness and activities required by the diagnosis, proudly
identifying as a “team” for their daughter and the illness. The other family, Kristen and Steve

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were very bothered by families whose entire identity was wrapped up in the disorder and was
making sure that disorder would not be what defines their daughter but only a part of who she is.
Implications for Clinical Practice of Marriage and Family Therapy
The psychosocial and interpersonal aspects of genetic illness are a natural venue in which
family therapists can participate as part of the healthcare team in the evolving practice of helping
patients to: 1) understand their risk for genetic illness, 2) cope with this information and the
results of testing other family members, 3) make decisions regarding preventive measures,
treatment, and testing, and 4) improve individual coping and family relationships in the face of
these new challenges (McDaniel, 2005). Ideally, family therapists work collaboratively on an
interdisciplinary health care team that would include primary care physicians, specialists, genetic
counselors, and possibly clergy (McDaniel, Peters, & Acheson, 2006). Parents experience
contact with health-care providers as a vital connection to expertise, to advice, to reassurance, to
instructions (Grob, 2008), and report that positive encounters with doctors have a significant
impact on their coping (Chaplin, Schweitzer, & Perkoulidis, 2005).
Study 2 emphasized the significance of having a good relationship with a health
professional the families trust in learning to accept the permanence of the disorder of their child
and in redefining the family’s normality. Since family therapists are trained to work with
multiple relationships, they can help guide families who are working with an interdisciplinary
health care team to help meet the families’ needs at any point during the process, from
considering to test to ongoing medical care.
Communication about genetics and chronic illness is an ongoing process, not a one-time
conversation (Wilson, et al., 2004), and family therapists can help provide a forum for the family
to discuss their feelings and their needs as more details about an illness emerge or other relatives

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may need to be contacted. In Study 2, communication was a vital component in the couples’
processing of their child’s diagnosis and in redefining the family’s normality. Shared health
beliefs help family members find meaning in their illness experience, whether current or future,
and help guide decisions and actions (Rolland, 2006). Family therapists offer families an
opportunity for ongoing discussion about the families’ health beliefs and communication
approaches to disseminating genetic information to extended family members. These discussions
may also serve as social support functions to build relational bonds and to facilitate coping
among family members (Peterson, 2005).
Study 1 highlighted that couples felt some level of uncertainty in deciding whether to
move forward with genetic testing, either for themselves or for their children. Some couples
disagreed whether genetic testing was even necessary for their family, whereas other couples felt
genetic testing was necessary in order to mitigate the risk of a having a genetic disorder in the
family. Risk embodies aspects of ambiguity and uncertainty. When linked with genetic
inheritance, risk can be very difficult to deal with from a personal and familial perspective
(Peters, Djurdjinovic, & Baker, 1999).The concept of risk is especially highlighted relative to
predictive genetic testing, where decisions of risk are paramount because the information
gleaned from such testing can drastically alter an individual’s sense of self, can change personal
identities, and can cause extreme anxiety and stress (Hallowell et al., 2004). Family therapists,
acting as a trusted health professional, can help families process any anxiety or negative feelings
they may have regarding the decision-making process for genetic testing within the family.
Another theme identified in Study 2 that may be pertinent to family therapists is the
anticipatory loss many couples identified when dealing with the diagnosis and subsequent care of
an affected child. Anticipatory loss refers to the experience of living with possible, probable, or

93

inevitable future loss (Rolland, 2006). The losses described by families with members tested for
an inherited genetic disorder differ from those losses described by families with a member who
suffers from a chronic or terminal illness of a non-hereditary nature. When a member tests
positive, it is a loss without a foreseeable end (Sobel & Cowan, 2003). The anticipatory losses
described by the couples in the study were twofold. On one hand, couples described the loss of
future dreams for the affected child, such as attending college, getting married, or moving out of
the house. On the other hand, some couples described the unanticipated loss of friendships and
friendships that changed because the caretaking needs of the affected child dictated a lot of the
family’s time. Family therapists are in a unique position to assist families in identifying and
coping with potential losses.
Future Considerations
The existence of genetic conditions produces a need for psychosocial and family
interventions throughout the lifespan (Peters, Djurdjinovic, & Baker, 1999). Although genetic
testing may be a one-time event for a family, the results of the test have implications for all
family members across all life cycle stages. Family therapists should consider working
collaboratively as part of an interdisciplinary health care team to provide the best possible care to
families. As a part of this team, family therapists can highlight the impact of predictive genetic
testing and the associated psychosocial issues on families and offer a space for exploring the
families’ needs and feelings about the results of the test. Taswell & Sholtes (2003) emphasize
that, “[b]ecause knowledge of their genetic status will affect every aspect of their life, from the
time of testing and into the future, they not only should receive immediate post-test counseling
but periodic long-term counseling at life cycle mileposts” (p. 121).

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Family therapists who are interested in the intersection between medical issues, the
medical community, and family therapy should consider furthering their education in specialized
programs like Medical Family Therapy. There are several degree and post-degree certificate
programs in Medical Family Therapy. For those training programs that do not have an emphasis
on Medical Family Therapy, those programs should consider adding elective course that address
the needs of families with genetic disorders or chronic illness.
At the outset of the study, the researcher anticipated that a couples’ spiritual or religious
beliefs would play a significant role in the decision-making process for genetic testing and in the
adaptation process after the diagnosis. The interviews did not show this to be the case, and it is
unknown if the participants in the study did not happen to be spiritual/religious or they did not
think it was an important part of either process. Further research is needed to understand what
role spirituality/religious beliefs play in the decision-making process for genetic testing,
especially for testing done in utero, when the couple may face the decision of whether to
terminate the pregnancy based on the diagnosis.

95

APPENDIX

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Interview Guide
Thank you for agreeing to participate in this interview today. The purpose of this interview is to
learn more about your experiences with genetic testing for your child(ren) and how you
communicated as a couple about the results. This interview will take approximately one hour to
complete. This interview will be tape recorded today and later transcribed. All identifying
information will be eliminated from the transcribed interview to ensure confidentiality. Do you
have any questions?
I’d like to first start with getting to know more about you and your family. Please share a little bit
about how you met, who is in your family, and what a typical day looks like for you.
-

Who are your children? Ages?
Where do you work?
What are your typical daily routines?

What were participant experiences with the medical system before, during, and after the genetic
testing process for their affected child?
-

Tell me about how you found out your child has _____.
o Describe the story about how the diagnosis came about and the steps you went
through to receive that diagnosis.
o Describe your interaction with the doctor; genetic counselor

How did the diagnosis and related medical system interfaces affect you and your family in your
roles as spouse/parents?
-

In what ways has your relationship with your spouse changed or not changed since the
diagnosis of your child?
In what ways has your role as a parent changed or not changed since the diagnosis of
your child?

How did the diagnosis of your child affect your medical decision making processes especially
around having additional children?
-

Have you and your spouse communicated about wanting to have another child? If yes,
ask them to describe in detail the process. If no, explore why not.
How have you and your spouse communicated about genetic testing for future children?

What types of supports and resources did you as a couple utilize as you moved through the
diagnosis and related decision making processes?
-

Extended family

97

-

-

o Could you tell me about the reaction or response your extended family had to
your child’s diagnosis?
o How have they shown or not shown support for your family? Please explain
Community Support
o What role has your workplace had in supporting or not supporting you and your
family?
o What role has your spirituality/religion/church community had in supporting or
not supporting you and your family?
o How have you utilized national and/or local organizations associated with your
child’s disorder?
Medical system (doctors, genetic counselors, etc.)
o Can you tell me about any resources you were or were not offered during or after
testing?
o Describe the supports you received from the medical system.
o What resources did you have to get for yourself and where did you get them?

Can you think of anything else in regards to your experience with genetic testing, the medical
system, or decision making that we should discuss?
Thank you for your time.

98

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