Although previous findings have shown that parents react intensely to the initial diagnosis of their child's disability, studies focused on long-term outcomes and adjustment are needed. We interviewed 21 mothers whose adolescent or young adult was diagnosed with Down syndrome or fragile X syndrome. Qualitative analysis of data focused on the diagnostic process and the child's development revealed emergent themes: importance of context, variations in emotional reactions to the diagnosis, use of specific coping strategies, and changes in family adaptation over time. Results indicate most families experienced elements of disruption and resilience in their reactions to the diagnosis, although different patterns emerged for each syndrome group. Maternal descriptions highlighted positive attributes that contributed to family well-being and behavioral challenges that were a source of family stress.
It is widely documented that the initial diagnosis of a disability in infancy or childhood elicits intense emotional reactions from parents and other family members. Previous research suggests that when parents first learn about their child's diagnosis, they react with feelings of loss and mourning for the “hoped-for child,” similar to the bereavement associated with the death of a family member or friend (Blacher, 1984; Burden & Thomas, 1986; Emde & Brown, 1978; Shonkoff, Hauser-Cram, Krauss, & Upshur, 1992; Trout, 1983; Waisbren, 1980). However, researchers adopting a longer term perspective have found that parental adaptation to a child's disability is a complex, lifelong process, involving ongoing changes at multiple levels of family life (e.g., Hauser-Cram, Warfield, Shonkoff, & Krauss, 2001; Seltzer & Heller, 1997). In the present study we extend this literature by using an interpretivist perspective to examine the ways in which mothers adapt to their child's diagnosis of fragile X or Down syndrome during the son or daughter's adolescent or young adulthood years.
Although researchers historically have focused on negative parental reactions to a child's diagnosis of a developmental disability, in the past 2 decades there has been an emergence of theoretical models emphasizing family adaptability, the importance of context, and variation in family responses (Ferguson, 2002; Seltzer & Heller, 1997). In their review of studies published from the 1970s into the 1990s, however, Helff and Glidden (1998) concluded that researchers of parental reactions to developmental disability have not refocused on positive family outcomes over time, though in the literature somewhat less emphasis has been placed on negative outcomes. Few investigators in the disability literature have adopted an explicit emphasis on positive family adaptation (Ferguson, 2002). Indeed, in a recent review of research focusing on positive perceptions in families of children with developmental disabilities, Hastings and Taunt (2002) concluded that positive family experiences typically co-occur with negative or stressful experiences. They suggested a theoretical model in which positive perceptions are viewed as a means for families to cope with the challenges presented by children with disabilities. Likewise, other scholars have used the term resilient disruption to describe family interaction patterns that include a child with a disability (Costigan, Floyd, Harter, & McClintock, 1997). However, “there is a greater need than ever to understand how the accounts that families themselves provide match these theoretical models” (Ferguson, 2002, p. 129).
An interpretivist perspective is uniquely suited to this task because its proponents seek to describe, interpret, and understand another's perspective and recognize that reality is a socially constructed phenomenon that can be shared through an individual's narrative accounts of experiences across time, allowing people to “tell their own stories, in their own words” (Ferguson, Ferguson, & Taylor, 1992, p. 298). In the present study, we examined maternal narratives recounting the child's birth experience, the process of discovering the child's diagnosis, and descriptions of the child's personality and developmental progress as a way of understanding the meaning mothers attribute to family experiences associated with their child's diagnosis of fragile X or Down syndrome. We relied primarily upon open-ended interviews so that we could access positive family experiences as well as potential challenges.
Although researchers in two reports have retrospectively assessed family experiences associated with the diagnosis of fragile X syndrome (Bailey, Skinner, Hatton, & Roberts, 2000; Carmichael, Pembrey, Turner, & Barnicoat, 1999) and several investigators have focused on parental reactions to their child's diagnosis of Down syndrome (Van Riper, 1999; Van Riper & Selder, 1989), these researchers have not investigated variations in parental reactions as a function of differences in the etiology of the child's disability. Based on qualitative analysis of interview data, we examined maternal adaptation to a child's diagnosis of fragile X or Down syndrome during the son or daughter's adolescent or young adulthood years, in addition to examining patterns that emerged based on the child's diagnosis.
Although Down syndrome and fragile X syndrome are the two most common genetic causes of mental retardation (Dykens, Hodapp, & Finucane, 2000), these syndromes differ in ways that appear to affect parental adaptation (Abbeduto et al., 2004). Indeed, previous researchers have found that mothers of children with Down syndrome report less stress (Kasari & Sigman, 1997) and more social support (Erickson & Upshur, 1989; Shonkoff et al., 1992) relative to mothers of children with other disabilities, particularly when children are young. Several reasons have been suggested for this finding, including readily available information on the child's condition and expected outcomes, professional and peer support, and early intervention for families of children with Down syndrome (e.g., Hauser-Cram et al., 2001) as well as characteristics of the children themselves (Fidler, Hodapp, & Dykens, 2000; Hodapp, Ly, Fidler, & Ricci, 2001).
In contrast, limited information and professional support are available for those with fragile X syndrome (York, von Fraunhofer, & Sedgwick, 1999). Moreover, individuals with this syndrome are likely to exhibit problem behaviors, including social anxiety, elevated activity levels, inattention, and autistic-like behaviors (Feinstein & Reiss, 1998; Hagerman & Lempe, 1999) that are thought to adversely affect parental well-being (e.g., Abbeduto et al., 2004), whereas children with Down syndrome do not display these problems as often or to the same degree (Fidler et al., 2000). In addition, biological mothers of children with the fragile X full mutation carry either the full mutation or premutation of the fragile X gene, which may affect maternal adaptation via associated difficulties in cognitive and emotional functioning (Hagerman & Lempe, 1999). Finally, whereas Down syndrome typically is definitively diagnosed shortly before or after birth (Batshaw, 1997), fragile X syndrome typically is diagnosed later in the child's development after a period of several years of uncertainty (Bailey et al., 2000; Carmichael et al., 1999).
Two reports have documented challenges experienced by parents in discovering their child's diagnosis of fragile X syndrome. In Carmichael and colleagues' (1999) survey of 245 families of individuals with fragile X syndrome in the United Kingdom, 20% of the families said that their experience of the diagnostic process was positive, 22% felt the process was insensitive and unsupportive, and 14% said they were told by professionals that they were “overanxious or neurotic” in seeking a diagnosis for their child or adolescent. Bailey et al. (2000) relied on maternal interviews of young boys with fragile X syndrome and found that families had concerns about their child's development at an average age of 9 months, and the average age for diagnosis was 35 months. In both of these studies, the authors found that the year of the child's birth accounted for some variability in the timing of the diagnosis; that is, children born more recently were diagnosed earlier. Specifically, Carmichael et al. found that the average lagtime between parents seeking a cause for their child's problems to the time of diagnosis decreased from 8.3 years for children born in 1980 to 1.2 years for children born in 1990. Although the situation has improved over the years, many parents of children eventually diagnosed with fragile X syndrome still experience substantial periods of concern and worry prior to learning their child's diagnosis.
This delayed diagnostic process may affect parental adaptation and ability to cope with the diagnosis. Abbeduto et al. (2004) and Franke et al. (1996) have conducted the only two studies in which the impact of raising a child with fragile X syndrome on parents' well-being was investigated. Neither of these studies were focused on parental coping with the uncertainty that occurs prior to diagnosis or explored potential positive characteristics of individuals with fragile X syndrome.
Several reports have been focused on parental reactions to their child's diagnosis of Down syndrome. Van Riper and Selder (1989), for example, identified uncertainty as a major theme. Initial uncertainties were focused on the unexpected nature of the diagnosis, initial responses by professionals, concerns about the future, and worry about parenting skills, whereas ongoing uncertainties surrounded the child's health, involvement in intervention and educational programs, and additional concerns about the future. Van Riper, Pridham, and Ryff (1992) found that interactions with health care providers had a significant impact on how families responded to the birth of a child with Down syndrome. Less than half of the parents reported that the information they initially received about their child's diagnosis was accurate or encouraging. More recently, Van Riper (1999) conducted in-depth interviews with 20 families, revealing the process by which families learned of the child's diagnosis of Down syndrome. In contrast to Van Riper's previous studies, the majority of parents in the 1999 study learned about the child's diagnosis prenatally. Although most of these parents did not feel well-informed about the accuracy, purpose, or limitations of prenatal screening, the majority indicated that they were able “to celebrate the child's birth because they were over the initial shock of Down syndrome and they had already had a chance to grieve the loss of the ‘expected child’” (p. 3). Although this work is important in understanding parents' initial responses to the child's diagnosis in the newborn period, these authors did not examine parents' adaptation to the diagnosis over time or the specific coping strategies that parents employ nor did they illustrate the ways in which parental strategies varied with the etiology of the child's disability.
We designed the present study to examine the meaning that mothers attribute to their experiences surrounding their son or daughter's diagnosis of fragile X or Down syndrome, including positive experiences and potential challenges. We addressed three research questions: (a) How did parents discover their child's diagnosis and did this differ for families affected by fragile X and Down syndrome? (b) How did mothers view their child's personal characteristics as contributing to family well-being, and did this differ according to the child's diagnosis? (c) What themes emerged regarding maternal and family adjustment to the child's diagnosis and development by the time the son or daughter reached adolescence or young adulthood?
Twenty-two families participated in the project, with an equal number of families in the fragile X and Down syndrome groups. Families were drawn from a larger study focused on the development of adolescents and young adults with developmental disabilities (Abbeduto et al., 2004). Because data were missing for one family in the Down syndrome group due to audiotape equipment failure, the final sample included 10 families in the Down syndrome group and 11 families in the fragile X syndrome group. Children ranged between 11 and 23 years of age. All of the families in the Down syndrome group and most of the families in the fragile X syndrome group were Caucasian. The fragile X syndrome group included one African American youth and one biracial youth (one parent was Caucasian and the other was African American). Additional information about the participants interviewed can be found in Table 1.
Organization of interviews
Mothers participated in a private, face-to-face interview with the first author. Each interview involved three segments. The first was open-ended and involved asking mothers to describe their son or daughter using three words and to tell a family story or experience illustrating each word. The goal was to establish rapport while allowing mothers to discuss either positive or negative characteristics of the son or daughter and how these characteristics impacted on the family. The second segment was focused on the process of learning the child's diagnosis and contained two parts: (a) mothers were asked to recount the experience of the child's birth, using an open-ended technique based on the work of Oppenheim and colleagues (Oppenheim, Wamboldt, Gavin, Renouf, & Emde, 1996) and (b) we used a semi-structured interview modeled after the Reaction to Diagnosis Interview (Pianta & Marvin, 1992) that was designed to elicit cognitive and affective information regarding the child's diagnosis. Interview questions asked parents to (a) recall their initial perceptions and feelings that there might be a concern about their child's development, (b) recall their emotional experiences related to the formal diagnosis, and (c) assess any changes in their thoughts or feelings between initial perception of developmental differences and diagnosis. The final segment of the interview was open-ended, and mothers were asked to discuss their child's developmental progress since infancy, including experiences that helped or hindered the family.
Qualitative analysis of interview data
Interviews were audiotaped, transcribed verbatim, and rechecked for accuracy prior to analysis. Audiotapes and transcripts were reviewed several times to familiarize us with the content of the interviews. Then, using a grounded theory approach (Strauss & Corbin, 1998), analysis of each interview segment included three phases: (a) open coding, when conceptual labels were given to initial groups of similar responses; (b) axial coding, when existing links between categories were examined and altered; and (c) selective coding, when categories were refined and grouped around common themes (Corbin & Strauss, 1990). The first and second authors initially coded the data independently using definitions of family disruption and resilience to facilitate identification of narrative excerpts associated with the coping process. In the open-coding phase, we identified 156 quotes and grouped similar responses into 43 codes. During axial coding, each initial code and its associated narratives were compared with other codes for similarities and differences; some initial codes were combined and others were deleted or recoded. Subsequently, transcripts and tapes were reviewed again, resulting in a comprehensive and inclusive set of codes for each interview segment. During selective coding, we grouped codes into higher level clusters until abstract thematic categories emerged within each section of the interview. In the interview segment involving maternal descriptions of youth, three categories emerged. In maternal descriptions of the child's birth, diagnosis, and development, four abstract themes emerged. Disagreements were resolved through discussion to consensus.
Mothers of participants with Down syndrome or fragile X syndrome were recruited through advertisements in newspapers in three Midwestern states, newsletters distributed by regional and national organizations serving professionals, university-based research registries of families having a child with a disability, and brochures mailed to special educators and genetics clinics in the region. Although participants with fragile X syndrome were recruited nationally because of its lower prevalence, most participants lived in three contiguous Midwestern states. All participants were the biological mothers of the adolescent or young adult with fragile X or Down syndrome, all of whom lived at home with his or her mother. For this portion of the project, mothers participated in an in-depth interview that was designed to elicit narratives about the child and family. Audiotaped interviews lasted from 45 to 75 minutes.
Summary of the Diagnostic Process
All mothers of children with Down syndrome indicated that they were informed of the diagnosis at the child's birth or the following day. Most mothers were told of the diagnosis by an obstetrician or pediatrician; however, 3 mothers were told by their husbands, who already had been informed by a physician. Although every mother in the fragile X syndrome group had concerns about her child's development beginning in infancy, families found out about the diagnosis when children were between 2.5 and 16 years. Similar to previous research, lag time between initial concerns and diagnosis of fragile X syndrome ranged from 2 to 11 years, with an average of 6 years. All mothers were informed of the fragile X syndrome diagnosis by a physician, usually a developmental pediatrician, neurologist, or psychiatrist. Just over half of children with fragile X syndrome had been diagnosed with at least one other disorder prior to genetic testing for fragile X, including speech/language delay, learning disability, seizure disorder, mental retardation, attention deficit disorder, anxiety disorder, and/or autism.
Themes in Maternal Descriptions of Youth With Fragile X or Down Syndrome
In the narrative descriptions that mothers provided about their sons and daughters with fragile X or Down syndrome, three major themes emerged: (a) the child's ability to connect with others, (b) the child's sense of humor and insightfulness, and (c) challenging behaviors.
Connections with others
All mothers in the fragile X syndrome group and all but one of the mothers in the Down syndrome group described their children as facilitating positive connections with family members, friends, and other individuals. Mothers highlighted their child's kindness, affectionate nature, empathy, and sensitivity to others' feelings, which were seen as benefits of having a youth with fragile X or Down syndrome in the family.
A mother of a boy with fragile X syndrome said that
He's very concerned about other people—how they feel …Well, just last week we went through an episode of strep throat in our family. I was lying on the bed feeling really rotten and he came up, put a blanket on me, made sure my pillow was fluffed and said, “Get some rest, Mommy.” And he just kissed my arm. And he's always just like that …When he used to take his lunch to school, he'd come home and give me the lunch kit and take it in the kitchen and say, “Thanks, mom.” And none of my other kids ever thought to thank me for making their lunch.
Mothers discussed how the youth with fragile X or Down syndrome stood out from their other children because of this thoughtfulness and ability to relate to others with warmth and sensitivity. They described their child with diagnoses of fragile X or Down syndrome as having an uncanny ability to read others' feelings and respond in a helpful and caring manner.
A mother of a daughter with Down syndrome indicated that
Everything she does is loving. Just being here, she's constantly saying, “I love you, Mom.” She's the type of person that if you're sad, she'll comfort you. She seems to have a lot of intuitive sense of when someone is feeling sad. She'll notice maybe even before the others will or I will even. She'll put her arm around you and make you feel better. And everything she does she puts love into it. It's just phenomenal for a child like her.
Humor and insightfulness
Most mothers in the fragile X syndrome group and in the Down syndrome group described their child's sense of humor, happy disposition, and insightfulness as well as the ways in which those characteristics prompted family members to gain a new perspective. These attributes were seen as positive contributions to family well-being.
A mother with a son who was diagnosed with fragile X syndrome said.
He just has such a positive attitude. He's fun to be with—he makes it fun, or he just gets cracked up at little things. We'll say something totally serious and he'll just think it's funny. And he'll just start laughing. He has this really deep laugh and it's just so infectious …He laughs at different things, things that you wouldn't think to laugh at, so you see the world through a whole different set of eyes. And you realize how you don't need to be serious in life at every little thing.
He's asked a lot of questions about Down syndrome, and will he always have it. Will he get married? Will he drive a car? These are not all the same conversation; they're over time. And one of the things that he said was, “Well, when I die and go to heaven, will I still have Down syndrome?” And it's like, wow, I never thought of that; there's a whole lot more there that tests don't measure.
Approximately one third of mothers in the fragile X syndrome group and in the Down syndrome group described challenging behaviors in their child, including stubbornness, impulsivity, aggression, moodiness, and anxiety. Mothers discussed these behaviors, rather than the child's disability per se, as a source of family stress.
A mother of a daughter with Down syndrome indicated:
She has a tendency to kind of test the waters everywhere she goes and is kind of stubborn in not following the rules. …it's been kind of a hard thing for her to get past. When someone tells her to do something, she'll think of something else to do instead. If you tell her to go somewhere, she'll say “I don't want to. Nope, don't want to.” Or not answer, just totally ignoring me, and I know she heard me. …she'll be stubborn and just hang on just as long as she can.
A mother of a son with fragile X syndrome reported that
On the first day of school the teacher told them they would have a field trip at the end of the year and they would need a costume. So he came home and said “I told my teacher that I won't be at school tomorrow because we are going on a field trip.” And I said, “Oh no, that's about 9 months away!” Every day after that he asked, “Mom, have you made my costume yet?” “Well, no, first there's Thanksgiving and then Christmas,” and I kept trying to get him to understand, but he fretted and fretted for 9 months.
In most of their responses to the first segment of the interview, mothers emphasized the positive impact of their children's characteristics, including their ability to relate to others and their sense of humor, cheerfulness, and insightfulness. However, about one third of the mothers in each group also discussed challenging behaviors as a source of family stress.
Emergent Themes in Narratives Focusing on the Child's Birth, Diagnosis, and Development
Analysis of narratives revealed four themes related to the child's birth, diagnosis, and development: (a) the importance of context in the coping process, (b) variability in mothers' emotional reactions to the child's diagnosis and developmental concerns, (c) specific strategies mothers used to cope with the child's diagnosis, and (d) how the family's emotional reactions to the child's diagnosis evolved over time.
The importance of context
All maternal narratives referred to the importance of context for maternal and family adaptation to the child's diagnosis. Key contextual influences included the marital and other family relationships, interactions with medical and school professionals, relationships with friends or church members, and cultural/historical factors. Although these variables interacted over time to make each family's experience unique, the most salient contextual theme involved the presence or lack of support from other individuals, including spouses, family members, medical professionals, and friends. Twice as many mothers in the Down syndrome group as in the fragile X syndrome group discussed receiving support from family members. In contrast, most mothers in the fragile X syndrome group but less than half of mothers in the Down syndrome group focused on lack of support from spouses and other family members.
A mother in the Down syndrome group reported that
The day after our son was born, the pediatrician called my husband and said he had to talk to us at the hospital. And so that's when he told my husband …so we took our son home, and everything was fine. Then one day I had him lying on the middle of the bed. I was crying, looking at the baby and crying. And my husband said, “Don't you feel sorry for that baby, he's gonna be just fine.” So, my husband and I were always able to put it behind us and get on. But I had a lot of support from my husband, my kids were wonderful, people at church came to see me at the hospital and everything. Then my two doctors were really supportive. They hooked me up with infant learning services and a family who had a child with Down syndrome …she got a really good group of parents going, a good support group …so I really felt like I had places I could turn.
This narrative highlights the key role of spousal support, especially in the mother's initial responses to the diagnosis. Support from siblings, family members, church, friends, and other parents of children with Down syndrome became more important over time. Another mother with a child who was diagnosed with Down syndrome said that
I felt really grateful for my family around me. A lot of them are really supportive …my son was named after both of his grandfathers …And then I thought, maybe they don't want someone named after them who's got these special needs. In fact, we brought it up before we christened him. I guess it's why it makes me feel so good, because they both were like, “Hey, we have a grandson named after us!”
For these mothers, support from spouses and other family members was instrumental in their initial and ongoing adaptation to the child's diagnosis. For other mothers, lack of support from spouses and family members made the situation more difficult.
A mother of a child with fragile X syndrome said that
He was fussy and I had three kids and was working full-time and my husband was working and gone most of the time. So, I had to take care of them all at night, and it was a very difficult time. My parents were in a town 40 miles away and they were older, so they really couldn't help much. And my husband's folks were in town but they weren't much of a support. They had a hard time handling our son's behaviors and outbursts and so they weren't around a lot because they couldn't understand him. So, we really didn't have a lot of support. We never have and we still don't … I try to forgive my own immediate family. It's almost like for years, they were denying, or this is just your child's problem … just a lack of how to support us. All those years, I could've used them.
Three times as many mothers in the Down syndrome group compared to the fragile X syndrome group indicated that medical professionals had been supportive and helpful.
A mother in the Down syndrome group noted that her
doctor was the most amazing doctor … the man was phenomenal … he knew our child's diagnosis right away. A lot of doctors wouldn't tell you that, and I wouldn't have wanted anyone else to tell me … For the two to three weeks after the birth he called me at home every single day.
Another mother noted:
Then the doctor came in and he said, “We think that your daughter may have Down syndrome. We're really pretty sure, but we won't know until we send in the sample for genetic testing.” … So then he said there was a nurse that worked there who had a child with Down syndrome, and she'd be more than happy to come in and talk with me. And besides that, he said our daughter was very healthy and was very positive about it. And it really wasn't that bad, you know, just over the shock of hearing that. It was really very positive. After that, I think she came in and gave me a lot of literature and I called my husband. And he said, “Well you know we are gonna love her just like our first child.” And they said that there's so much they can do if you start with early intervention, that type of thing, and right off the bat I contacted people. I had a nurse clinician come in when our daughter was 6 months old, and started doing everything, so it was all very positive. My sister sent me some books on Down syndrome, some of the latest ones ever out. And we got a lot of real positive feedback from the family.
In contrast, nearly half of the mothers in each group discussed how medical professionals had been unsupportive and negatively influenced their ability to cope with the child's diagnosis. Although mothers acknowledged that professional support (or lack thereof) does not occur in a vacuum, many of them felt that insensitivity and lack of empathy from professionals had a powerful effect on their emotional responses to the child's initial diagnosis.
We hadn't heard for over a month, the diagnosis … I called him and the doctor came to the phone and said, “Was I supposed to give you the diagnosis?” And I said, “Yes” … and he said “Well then … your child tested positive for fragile X.” He didn't ask if anybody was there with me or if there was a time when my husband and I could come in … that is definitely a poor way to tell you that. You should not give someone a diagnosis when she is all alone.
And it was very hard on us. Like I said, it was a surprise. My doctor gave us no feedback. I never saw him again. He did not support us at all. I woke up from the anesthesia and my husband was crying because the doctors had already told him that our daughter had Down's. And I'm glad my husband's not here, because this brings tears to my eyes, but it would be worse for him. And the doctors had told us that we did not have to see her. She would never walk, she would never talk—just put her in an institution and go on with our lives. Which we refused because we loved her, we are and were very much in love.
Other contextual variables, such as historical and cultural influences, were evident in some of the narratives, although this was a minor theme. Several narratives stressed the negative feelings that were engendered when professionals suggested institutionalizing infants with Down syndrome or used terms such as mongoloid or retarded when referring to the child. Cultural influences were mentioned in only three maternal narratives, and two of these narratives focused on youth who were African American or biracial. Cultural influences tended to interact with other factors, such as marital support, in the process of maternal and family adaptation to the child's disability. For example, a mother in the fragile X syndrome group reported that in her husband's culture
first born males are really important. I really think that it was saving face for him to think that nothing was wrong with our son. There was a lot of tension about how much attention I was giving to our son—how early in parenting, I was way too overprotective …just the whole cultural thing.
Variability in mothers' emotional responses to the child's diagnosis and developmental concerns
Mothers' emotional responses to the child's diagnosis varied widely. Themes focused on uncertainty, prolonged intense distress, experiencing a mourning process, and positive feelings of relief and hope. Moreover, these themes varied with the child's diagnosis.
All mothers in the fragile X syndrome group reported experiencing significant distress because of uncertainty associated with their child's developmental difficulties, whereas only 2 mothers in the Down syndrome group expressed these feelings.
One of the mothers in the fragile X syndrome group stated:
Everything about our son was different when he was a baby, and I didn't understand why. He cried all the time and when you'd pick him up he would have, I guess they call it a startle reflex, where he would throw his arms off, you know, off to the side. He almost acted like he didn't want to be held, but then he wanted to be held. He'd fight it at first and then he'd be okay, which was really hard on me because I didn't understand what was going on.
Mothers described a wide range of emotional reactions to learning of the child's diagnosis. Half of the mothers in the Down syndrome group and 2 mothers in the fragile X syndrome group experienced intense, continuing distress after they learned about the child's diagnosis.
I mean I was shocked when the doctor came in, the pediatrician, to tell me that he had Down's. Cause I didn't have a clue …And then I'm sure that he used the word retarded and all that, which just freaked me out. And I just, we just, we cried …sitting in our room …thinking, there's never a reason to be happy again.
A mother in the fragile X syndrome group said:
We were just blown out of the water with no clue …it totally obviously changed our entire life with regard to everything, even who we are. …I have in my mind a picture of just walking into doors. Total confusion …it was almost like it had a feeling of throwing you out in the sea and saying, gee, I really hope you can swim.
However, 6 mothers in the fragile X syndrome group but only 2 mothers in the Down syndrome group described feelings of hope or adjustment following an initial period of distress or shock. Three of the mothers in the fragile X syndrome group said they went through a mourning process in adjusting to the child's diagnosis, with the end result of integrating the experience into their lives and building new dreams for their child and family.
A mother of a son with fragile X syndrome stated:
The emotional part of it, that was really hard. Because you have all your dreams for your kids, you know. He's gonna go to college, he'll get married some day and have a beautiful family. Maybe he's gonna want to play football or he's gonna want to do this, and his dad will take him, and they'll go watch hockey games with his friends, and …[teary]. You, um, I've heard other parents say, you have a death to those dreams for your children and that's true. You put all those aside and you just say to yourself, okay [laughs], those are over. And then if I am going to go on and maintain any amount of sanity in my life, I'm going to have new goals, new dreams.
In contrast, 4 mothers in the fragile X syndrome group indicated that discovering the diagnosis was positive (either a relief or very helpful), and 2 mothers in the Down syndrome group described viewing the situation as a challenge.
A mother in the fragile X syndrome group noted that
when the testing was done, I felt like this major mission had been completed. I was just relieved—relieved because I knew what it was. Knowing what it was wasn't going to change it, but at least you could figure out a course of action. At least you could get some information to know what to expect and what you are dealing with, and maybe better figure out what some of the better ways of handling it would be.
A mother in the Down syndrome group said:
As I look back and think about the frame of mind we were in, I think both my husband and I felt, all right, this is a challenge that we have to meet and we will do the best that we can to provide all that we can for him and to help him be all that he can be.
Specific coping strategies
Mothers described using specific positive and negative strategies to cope with the child's diagnosis or developmental concerns. We interpreted these strategies on the basis of the stress and coping literature (e.g., Kim, Greenberg, Seltzer, & Krauss, 2003). Negative or emotion-focused coping strategies identified included self-blame, depression, denial, and dismissing developmental concerns or the impact of the disability. Self-blame or depression was identified in only 3 narratives in the Down syndrome group but in 7 narratives in the fragile X syndrome group.
Self-blame. “Because I kept thinking our child's diagnosis was something I did. I must have done something—something must be wrong with me. He must have fallen or something.” (fragile X syndrome mother)
He was just, it was just trying. I didn't go anywhere. I think I had postpartum depression. …I didn't go anywhere, I didn't do anything. I couldn't get him to quit crying. …he was a difficult baby, which was hard because he was, you know, so physically beautiful. He was colicky and it was hard. (fragile X syndrome mother)
Well, about somewhere in his first year, I remember my father-in-law saying, is something the matter with his eye? And I said, no, it's normal for kids to look kind of crosseyed their first year. … so I guess my normal was a little denial there. (fragile X syndrome mother)
“I can remember looking in his eyes and thinking—this is weird, something's not right. I remember that so vividly. But then, I quickly dismissed it, not wanting to believe that anything was wrong” (fragile X syndrome mother).
A number of positive or problem-focused coping strategies emerged from the interviews. Most mothers in both diagnostic groups actively sought out services and information to help their child. Some mothers described their role as the child's primary advocate.
Actively seeking services or information:
Because when a child is born with Down syndrome, you know you'd better be getting busy. …we knew the first day that we had a challenge in front of us and that we needed to get busy and pick up the gauntlet and go.
And I just pressed forward and said, he's not talking and he's not doing. And I kept going to the pediatrician, and he sent me to a neurologist, finally, who sent me to an ear, nose, and throat doctor, and we did the tubes in his ears …And then I pushed forward until he received speech services. (fragile X syndrome mother);
I'd seen several articles on fragile X. …with each article, I seemed to get a little more information until I was finally convinced that there was a strong likelihood that he had fragile X. I requested that he be tested for that. His pediatrician initially felt that he was not a candidate for that, until I pointed out the patterns to him. Then he agreed to have the testing done.
Treating the child normally
“Our daughter is treated real normal. She has to be because her sister's normal. …you can't favor one and not the other, because there's just hurt feelings no matter what then” (Down syndrome mother).
Relying on faith or religion:
I just couldn't get anywhere, and finally about a year ago, I just prayed and opened up the yellow pages and went and found a doctor. …God's timing is perfect and I guess we found out what we needed to know and then we could do something. (fragile X syndrome mother)
Seeking social support
“I started making sure to foster friendships with parents that were deeply involved with their children. So we had a networking system …When I would see articles I would share them” (Down syndrome mother).
Identifying with child
“I think it's really important that families accept fragile X in their children, and in my case myself, as just another part of who we are.”
Changes in the coping process over time
Four mothers in each group reflected on how their emotional reactions and adaptation to the child's diagnosis had changed significantly over time. Mothers in the fragile X syndrome group emphasized how their concerns and adjustment to the child's developmental challenges evolved as professionals provided them with different information. In contrast, mothers in the Down syndrome group emphasized how their feelings about the child's diagnosis changed as the child responded to intervention and as they received support from other parents of children with Down syndrome.
Our family has had the diagnosis for about 15 years, so we have moved through a lot of emotional peaks and valleys. Not to say that there still isn't grieving when birthdays come and different things. That's something that will never go away. But we accept it and are able to see who our children are. And the things that affect them, including fragile X, are just the same as the fact that one has blue or brown eyes and one has hazel eyes …We really have an ability to see who they are and it doesn't have anything to do with whether they have disabilities or not …So, I'm very pleased to have come out on the other side [laughs].
Consistent with previous research (e.g., Bailey et al., 2000; Seltzer & Heller, 1997), the process of discovering a child's diagnosis differed based on the etiology of the child's disability, and mothers' emotional reactions to the diagnosis varied substantially across families. Although some mothers experienced continuing distress or chronic mourning in adjusting to the child's diagnosis over time, most of these mothers described themselves as engaging in a range of adaptive coping behaviors, including actively seeking social support and services for the child. Moreover, many mothers who experienced periods of self-blame, depression, or denial in their reactions to the child's diagnosis subsequently reflected on these reactions and eventually accepted and integrated the diagnosis into their family functioning by the time the child had reached adolescence or young adulthood. These findings suggest that most mothers and families showed elements of both disruption and resilience in their eventual adjustment to and experiences associated with the child's diagnosis of fragile X or Down syndrome, although specific patterns of adaptation emerged based on the etiology of the child's disability. In addition, maternal descriptions of youth with fragile X or Down syndrome were mostly positive and did not differ based on the child's condition.
In addition to confirming results of previous studies regarding group differences in the diagnostic process and variability in family coping, four new findings emerged from this study: (a) the importance of multiple contextual levels for maternal reactions to a child's diagnosis, (b) differences in perceptions of support and coping strategies based on the child's diagnosis, (c) changes in family adaptation to the child's diagnosis over time, and (d) the family's positive perceptions of youth in both the fragile X syndrome and Down syndrome groups.
Consistent with theoretical models emphasizing the importance of context in the coping process (Ferguson, 2002), mothers described contextual factors as interacting in a complex manner to influence maternal and family coping, especially support from spouses, family members, and medical professionals. Whereas most mothers in the Down syndrome group discussed the presence of support from family members and professionals, most mothers in the fragile X syndrome group discussed lack of support from family members and professionals. This finding is consistent with research suggesting that families and professionals provide more support to parents affected by Down syndrome because of early identification and information available about the syndrome (Hauser-Cram et al., 2001), which contrasts with our findings regarding fragile X syndrome. Another possible explanation is that problem behaviors and additional diagnoses associated with fragile X syndrome (Feinstein & Reiss, 1998) interfere with parental well-being directly (e.g., Abbeduto et al., 2004) as well as indirectly, through lack of support from family members. These results highlight the need for additional professional and family support, provision of information, and sensitivity when providing diagnoses for families affected by fragile X syndrome.
Although cultural and historical factors were evident in several narratives, this was a minor theme. One reason for this may have been the restriction of the sample to primarily Caucasian families. Indeed, 2 of the 3 mothers who highlighted the importance of culture had children who were African American or biracial. The limited racial– ethnic diversity in the sample prevents a full understanding of how variations in culture might impact family experiences. Whereas all mothers reported some similar experiences regarding caring for a child with a disability, research has demonstrated substantial variation in how mothers of different racial and ethnic backgrounds perceive the caregiving experience (Barnett et al., 2004; Miltiades & Pruchno, 2002; Pruchno, Patrick, & Burant, 1997; Valentine, McDermott, & Anderson, 1998). In addition, negative interactions with the health care system may make it more difficult for parents of underrepresented groups to cope with their child's disability, which may impact on parental adaptation to the child's diagnosis. Patients from underrepresented groups and those with low incomes receive poorer health care and perceive their health care providers more negatively (Collins et al., 2002; Cooper-Patrick et al., 1999; Fiscella, Franks, Gold, & Clancy, 2000; Van Ryn & Burke, 2000). Future researchers would benefit from inclusion of a more diverse sample and examination of additional cultural and historical variables and how these interact with receipt of professional support to affect maternal and family adaptation to a child's diagnosis.
Mothers in the fragile X syndrome group were likely to report engaging in negative or emotion-focused coping strategies in contrast to mothers in the Down syndrome group. One potential explanation for this finding is that the long periods of concern and uncertainty in fragile X syndrome caused parents to worry that they may have caused their child's problems. In fact, mothers of children with fragile X syndrome have passed the problematic gene onto their child and might blame themselves for the child's condition, thus increasing maternal feelings of guilt. Indeed, several mothers in the study indicated that if they had known they were carriers prior to pregnancy, they might have chosen not to have children. Another explanation is that mothers in the fragile X syndrome group may utilize emotion-focused coping strategies because of difficulties in emotion-processing that occur as a result of their carrier status (Hagerman & Lempe, 1999), although maternal carrier status was unknown in the present study. Nevertheless, most mothers of children with fragile X syndrome also used positive coping strategies, such as actively seeking information and support, and more than one third indicated that discovering the diagnosis was either a relief or very helpful. Future researchers should attempt to clarify whether uncertainty and variations in support impact on parental reactions to the child's diagnosis in families affected by fragile X syndrome, while accounting for maternal carrier status.
Although Van Riper and Selder (1989) found that uncertainty was a prominent theme in their interviews with families of children diagnosed with Down syndrome, in our study, uncertainty emerged as a major theme only for families who had a child with fragile X syndrome. These contrasting findings may have resulted from differences in the timing of our interviews. Whereas Van Riper conducted her interviews when children were very young, we interviewed mothers when their children were adolescents or young adults. Perhaps concerns related to uncertainty fade over time for the Down syndrome group as families begin participating in intervention and networking with parents and professionals, whereas uncertainties in the fragile X syndrome group intensify over time as the child's developmental difficulties and problematic behaviors begin to unfold and increase (Abbeduto et al., 2004). Our interviews support this speculation because over one third of mothers in each group described changes in their adaptation to the child's diagnosis over time. Whereas mothers in the fragile X syndrome group emphasized how their adjustment evolved as the professionals gave them additional information, mothers in the Down syndrome group emphasized how their feelings about the child's diagnosis changed as the child responded to intervention and as they received support from other parents. Results highlight the need to take a longer term perspective when examining family adaptation to a child's diagnosis of a developmental disability and the potentially positive impact of tailoring interventions to the etiology of the child's disability and specific family needs at a given time.
These findings also have implications for the debate on early screening for fragile X syndrome (e.g., Bailey et al., 2000). Three benefits to early screening identified in this study are that (a) families would not have to endure long periods of uncertainty about their child's developmental problems while searching for a diagnosis and treatment options if early screening were implemented, (b) families may encounter fewer misdiagnoses, less professional misinformation, and less professional resistance to parental concerns about the child's development if early screening was implemented, and (c) early identification would lead to initiating intervention services immediately, thus providing children with additional opportunities to improve their developmental skills and the ability to connect families to sources of support (e.g., other families affected by fragile X syndrome) early in the child's development.
When asked to describe the child's personality, most mothers in both groups focused on the child's connections with others, humor, and insightfulness, whereas only one third of mothers discussed challenging behavior as a source of family stress. These results are consistent with research suggesting that parenting children with Down syndrome can be rewarding (see Hodapp et al., 2001), although stubbornness is also commonly mentioned (Carr, 1995; Hornby, 1995). In the fragile X syndrome group, positive maternal descriptions contrasted with findings from quantitative studies in which problem behaviors in individuals with fragile X syndrome were emphasized (e.g., Abbeduto et al., 2004; Johnston et al., 2003; Sarismki, 1997). However, because retrospective narratives are one person's social construction of what has occurred, they tell us as much about the current situation as about an individual's or family's past experiences (Ferguson, 2002). Thus, maternal narrative descriptions are likely affected not only by the child's behaviors but also by the mother's relationship with the child and contextual factors.
This interpretation is consistent with Abbeduto et al.'s (2004) finding that mothers' feelings of closeness to their son or daughter did not differ based on whether the child was diagnosed with fragile X or Down syndrome. In their study, although mothers reported feeling less reciprocated closeness from their child with fragile X syndrome, this difference became nonsignificant after controlling for contextual factors and children's problem behaviors. Nevertheless, positive characteristics of children and youth with fragile X syndrome are often overlooked in the literature and should be included in future research in which family adaptation to this genetic disorder is examined. Overall, maternal descriptions of youths were consistent with theoretical models emphasizing the potential benefits of having an individual with a disability in the family, while recognizing challenges to family adaptation that occur as a result of the child's diagnosis (Costigan et al., 1997; Hastings & Taunt, 2002).
In addition to the restriction in the racial ethnic diversity of families, limitations of our study include the small sample size and data collection at one point in time from one source. Additional research is needed to examine differences in family adaptation based on children's diagnoses so that the sources of differences can be identified and the information used to support families. Despite these limitations, the present study advances our knowledge of parental reactions to their child's diagnosis and its continuing impact on families over the life course. The study highlights the importance of providing timely and sensitive support to families who have a child with a disability (especially fragile X syndrome) and confirms theoretical models that recognize challenges and disruption associated with family adaptation to a child's diagnosis over time while emphasizing variability in parental responses, the importance of multiple levels of contextual influence, and the potential for positive family perceptions and resilience.
This research was supported by Grants R01 HD24356, T32 HD07489, and P30 HD03352 from the National Institutes of Health. We thank Melissa Murphy (who assisted with recruitment, contacting families, and scheduling) and the families who shared their stories with us.
Authors: Julie Poehlmann, PhD firstname.lastname@example.org), and Venous Farsad, BS, Human Development and Family Studies, University of Wisconsin, 1430 Linden Dr., Madison, WI 53706. Melissa Clements, PhD, Assistant Scientist, Wisconsin Center for Education Research, 49a Educational Sciences, 1026 W. Johnson St., Madison, WI 53706. Len Abbeduto, PhD, Professor, Educational Psychology, 463 Waisman Center, University of Wisconsin, 1500 Highland Ave., Madison, WI 53705