Shelley L. Watson, Ph.D., Assistant Professor, Psychology Department, Laurentian University
"The most important thing that happens when a child with disabilities is born is that a child is born. The most important thing that happens when a couple becomes parents of a child with disabilities is that a couple becomes parents" (Ferguson & Asch, 1989, p. 108). This may seem like a self-evident statement, but when we look at the history of professional responses to the birth of a child with a disability, we find patterns of research and practice that have, until recently, assumed that the disability itself inevitably overwhelms all other considerations (Ferguson, 2002). Much of the literature on parenting a child with a disability is negative, and developmental disability has been described as "probably the most dreadful diagnosis a parent can receive" (Fewell, 1986, p. 209). Perhaps it is the receipt of a vague or nonspecific diagnosis that contributes to the negative familial reaction.
With advancements in human genetics and diagnostic techniques, there has been increased emphasis on determination of increasingly specific differential diagnoses. Many families who have a child with a developmental disability embark on a major quest for a differential diagnosis, seeking this more specific diagnosis in the belief that identification and classification of a set of symptoms will result in treatment, intervention, and social support that will ultimately lead to an improved quality of life for the family and the individual (Gillman, Heyman, & Swain, 2000). In addition, access to many services or funding dollars is based on the individual's specific disability. Thus, seeking a differential diagnosis has important implications for service, as well as financial support to families.
Importantly however, the American Association on Mental Retardation (2002) affirms that 30 - 40% of individuals with developmental disabilities have no clear etiology for their disabilities. Consequently, many families search for a differential diagnosis for prolonged periods, and some are never given a specific label for the disabilities of their children.
Little is known about what this process is like for families or how a failure to receive a differential diagnosis is perceived. This study is an investigation of the parental experience of the diagnostic process. The present study extends the literature on family adaptation to diagnosis of a disability by using an interpretivist perspective (Merriam, 2002) to examine the ways in which families experience the diagnostic process.
Methodology and Methods
Basic interpretive inquiry was chosen to address the research question, "what is the experience of receiving a differential diagnosis like for families?", because the overall purpose of this approach is to understand how people make sense of their lives and their experiences. Researchers employing this approach are interested in how people interpret their experiences, how they construct their worlds, and what meaning they attribute to their experiences (Merriam, 2002).
Participants and Procedures
Fourteen parents from thirteen families of children with developmental disabilities participated in the study, including 12 mothers and 2 fathers. Participants included parents of children with an identified genetic disorder or specific differential diagnosis, as well as parents of children with unidentified developmental delay. Five families had children with specific genetic disabilities and three families had children with diagnosed autism spectrum disorders, ranging from PDD to Asperger syndrome. Two families suspect autism spectrum disorders, but a differential diagnosis has never been given, and three parents have children with unidentified disabilities or nonspecific developmental delay.
I accessed families through disability support organizations and word of mouth, whereby I contacted individuals who might know families interested in participating in the study. This technique is sometimes called respondent-driven or snowball sampling and is often used in hidden populations that are difficult for researchers to access (Salganik & Heckathorn, 2004).
I interviewed parents in a semistructured format, blending more and less structured questions (Merriam, 2002). Interviews took place at the convenience of participants and in locations agreed upon by both the participant and myself, such as coffee shops, family homes, and participants' places of employment. Follow-up questions were asked of the participant, using e-mail and telephone conversations.
Consent and Ethical Issues
Informed consent was received from all participants and consent was revisited throughout the research process. Absolute confidentiality cannot be guaranteed, but reasonable measures of ensuring privacy were undertaken. Participants' names and any other identifying information were changed for data presentation. Since participants were consulted throughout the study, they were able to make changes as needed to ensure confidentiality to the best extent possible.
Participants focused on two main issues, including the meaning the diagnosis provided to the family and their experiences dealing with professionals. Analysis of the meaning data will be presented elsewhere (Watson, manuscript in preparation). The main themes discussed by parents were tolerating intensive testing, sensing rigidity in thinking by professionals, perceiving pessimistic prognostic information, receiving multiple diagnoses, and feeling dissatisfaction with the information provided to families. Each of these themes will be discussed in turn, but this section will begin with the experience of Shannon, the mother of a son with Angelman syndrome, exemplifying many of the aforementioned themes.
"I was very concerned about Eric's development. He could not control his movements, his limbs moved constantly, his eyes could not focus, and he had very low muscle tone. I was told he was completely normal&ldots; [then] I decided to get a second opinion and saw an older pediatrician who immediately said Eric had brain damage. When I asked how he knew this, he said because Eric had tremors and that is always linked to brain damage&ldots;he said the results showed Eric had a very small brain, microcephaly&ldots; [We then] saw a neurologist&ldots; [She said] with respect to the MRI, although the findings were not completely normal, she did not consider the findings striking or specific&ldots; Eric did not meet the definition of microcephaly. She found Eric to be slightly hypermotor for age, but [she was] not convinced of movement disorder per se."
"This test, that test, that test" - Tolerating Intensive Testing with Multiple Professionals
The actual diagnostic testing was a very long and difficult process for families, with parents using words such as "mission" or "saga" to describe the experience. Such undertakings meant long waits for referrals or diagnostic tests, dealing with multiple professionals, and watching their child go through sometimes painful procedures.
All families reported intensive testing and dealing with multiple professionals. Testing lasted from 1 year to 7 ½ years, with some parents never receiving a differential diagnosis for their child. Parents described the frustrating process of seeing specialist after specialist, extensive hospital stays, and going back and forth between hospitals. The following excerpt from Francine, the mother of a daughter with Angelman syndrome, illustrates the number of medical professionals that families dealt with in their search for a differential diagnosis.
"Well, there was the pediatrician, the neurologist, there was the eye specialist, the cardiologist, the physical medicine doctor, the dietician, the gastro-intestinal specialist, and kidney specialist, I think that's it&ldots; Oh yeah, physiotherapist and occupational therapist, this is all leading up to the diagnosis."
After the intensive testing, Phoebe, Ingrid, Deborah, Gillian, and Judy grew tired of the process and just wanted to get on with life and deal with the presenting issues. They may have felt pressure from professionals to get a diagnosis or wanted to discontinue the process due to guilt for putting their child through an arduous experience. "I don't want his whole life spent in and out of doctor's offices," states Phoebe, the mother of a son with an unidentified autism spectrum disorder.
"The doctor told me I was crazy" - Sensing Rigidity in Thinking by Medical Professionals
Parents said that some professionals did not listen to parental concerns and relied more on diagnostic tools such as "checklists." Parents perceived this as "being rigid" (Farah). Nine parents reported discontent with professionals' receptiveness to their anxieties about their child, which was often reflected in the manner in which the diagnostic process was conducted.
All parents suspected that something was wrong with their child before the medical professionals; Francine and Kathy even suspected difficulties prenatally. "The diagnosis wasn't all that big of a deal. I knew there was a developmental delay. I figured that out. I was just waiting for other people to figure it out," recalls Judy, the mother of a daughter with unidentified developmental delay. Nine parents described having to fight to get doctors to take their concerns seriously. As Judy remembers, "The doctor not listening to me was the most difficult part of the process, and I'm sure every parent has their own version of that story."
Because parents felt that doctors were not listening to concerns, Nina, Gillian, Deborah, Shannon, Phoebe, and Ingrid grew frustrated, and in order to initiate the diagnostic process they believed they had to be persistent. Unfortunately, it often took significant medical issues before medical professionals would get the process started. Nina, the mother of a son with unidentified developmental delay, recalls, "Once he was so sick he couldn't move, people listened. Before that he was ill quite often for about a year, and I was told it was just a virus, time and time again that [it] would go away. Some virus."
Such persistence often led to conflict between parents and medical professionals. Phoebe, the mother of a son with an unidentified autism spectrum disorder, describes one such encounter where the doctor said, "You're just one of those hysterical mothers who will take your child from doctor to doctor until you get the diagnosis that you want."
Statements such as these unfortunately gave rise to alienation between doctors and families.
"He would be placed in a home" - Perceiving Pessimistic Prognostic Information
Receiving the differential diagnosis and prognostic information was also painful for families, and parents spent a lot of time discussing their recollections of the receipt of the actual diagnosis and the accompanying prognostic information. Right from the start, a negative construction of disability was presented. Deborah, the mother of a son with an unidentified developmental delay, reports being told by her doctor, "something was terribly wrong." This attitude continued when the medical professionals provided information regarding prognosis. Families felt that doctors either were pessimistic regarding the child's future functioning, might have provided information that was not deemed relevant for the time, or made hasty speculations regarding the differential diagnosis; these experiences were frightening for families.
Francine, Stuart, Shannon, Gillian, Collette, and Tom felt that doctors were overly pessimistic regarding the child's future functioning when presenting the family with what to expect regarding the differential diagnosis . Collette, the mother of two sons with autism spectrum disorders, recalls, "He talked to us for almost 2 hours, and the part that stuck with me the most was him telling us that Claude would talk through a computer, would be difficult to potty train, and that our goal was to keep him from being institutionalized." As Collette's quote demonstrates, when prognostic information was provided to parents, it often dealt with issues later on in the child's life, concerns which were considered not relevant for the time, especially when families were dealing with an unexpected diagnosis or difficult news. For example, seven parents were provided with information regarding reproductive issues or future placement in group home settings.
"Every week it was something different"- Receiving Multiple and Incorrect Diagnoses
Nine parents discussed a perceived lack of sensitivity when doctors provided tentative or speculative diagnoses and felt that the provision of spontaneous theories was "insensitive" and "frightening." Farah, the mother of a daughter with an autism spectrum disorder recalls, "all in all, my daughter received five or six different diagnoses, including schizophrenia. One &ldots; specialist told me I had too many children and that was all that was wrong with my child." All parents reported multiple diagnoses for their child, which were very stressful for families. The following quote from Collette, the mother of two sons with autism spectrum disorders, typifies this experience:
"At 1 year we were told he absolutely and definitely did not have autism, at 2 he had an expressive and receptive language disorder, at 3 he had complex behavioral developmental disorder and at 4 we were told that 'even though he is more social than typically seen in children with autism, given the fact that he has a brother with autism I suspect he is within the spectrum.'"
The receipt of multiple diagnoses or theories was described as an "emotional roller coaster" by some parents, and led to anger for others.
"Give diagnosis, wish you well, and then you go home" - Dissatisfaction with the Information Provided to Families
All parents reported receiving minimal information regarding intervention programs or supports. Farah, Ingrid, Shannon, Gillian, Stuart, and Phoebe felt that each doctor gave their own advice, each conflicting and contradicting the next, and that none of the advice was grounded in recent research.
Parents were hoping for recent guidance about what to expect about their child's functioning and how to provide the best possible supports, but the medical professionals who presented the diagnostic particulars were able to present very little. Parents were also seeking access to funding and services in order to best support their child, but once a diagnosis was presented, medical professionals appeared ill-prepared to deliver support information. As Francine recalls:
"We thought that as soon as we got the diagnosis, people would be knocking on our door saying, 'OK, now this has happened, this is what we are going to hook you up with, these are the services, and someone will be calling you,' but there was nothing. They gave me a phone number for [community agency] and tell you to phone them. We didn't even know what they were - what they could do for me&ldots;"
This study found that the parents interviewed faced negative encounters with medical professionals as they sought a differential diagnosis for their child. One of the most salient themes of the interviews with parents was that they did not feel doctors listened to their concerns about their child. This led parents to doubt their abilities as parents and initiated what I perceived as alienation between families and professionals. It has been suggested that clinicians hesitate to address families' initial concerns about their child's atypical development because they lack information about developmental disabilities (Goin-Kochel , Mackintosh, & Myers, 2006) and doctors must try to rule out similar diagnoses. There is an absence of epidemiological research on autism (Brogan & Knussen, 2003) and confusion for professionals surrounding the diagnostic criteria for Asperger syndrome and other autism spectrum disorders (Brogan & Knussen, 2003). In other genetic disabilities such as Angelman syndrome, the diagnosis can be genetically confirmed in 80% of cases, but 20% of cases are diagnosed clinically and there is often uncertainty about the correctness of the diagnosis (Williams, Lossie, Driscoll, & the R.C. Phillips Unit, 2001).
If medical professionals are uninformed about disabilities, perhaps they should use families as a source of information, as many have reported having done their own research regarding differential diagnoses. From interviewing parents, I gleaned that parents would appreciate medical professionals conducting a brief preliminary evaluation as soon as parents express concern. The advantages of using parents' concerns in the diagnostic process are that they are easy to elicit and take only a few minutes of professional time (Glascoe, 1999). Morover, this strategy provides a family-focused and collaborative approach to addressing behavioral and developmental problems. Listening to families as disability advocates may further serve to ameliorate physician perceptions about disabilities and how to talk about them. Such communication may also help to coordinate services in order to provide families with information regarding funding and intervention support.
It is imperative to stress that medical professionals are trying under pressure to do their best. Families are seeking a differential diagnosis, and medical practitioners are perhaps feeling the pressure to come up with a name for the disability. It is also important to note that finding out that your child has a developmental disability and being concerned for your child will never be completely positive, but the process may not have to be as difficult as these parents reported. Considering family members as part of the diagnostic team and responding quickly to parental concerns will increase family satisfaction with the diagnostic process and may also expedite the process. Asking family members what they would like out of a differential diagnosis would also be helpful, so that medical professionals know what kind of information would aid families during a potentially stressful time.
American Association on Mental Retardation. (2002). Mental retardation: Definition, classification, and systems of supports. Washington, DC: Author.
Brogan, C.A., & Knussen, C. (2003). The disclosure of a diagnosis of an autistic spectrum disorder: Determinants of satisfaction in a sample of Scottish parents. Autism, 7(1), 31-26.
Ferguson, P.M. (2002). A place in the family: A historical interpretation of research on parental reactions to having a child with a disability. Journal of Special Education, 36, 124-135.
Ferguson, P., & Asch, A. (1989). Lessons from life: Personal and parental perspectives on school, childhood, and disability. In D. Biklen, A. Ford, & D. Ferguson, (Eds.), Eighty-eighth yearbook of the National Society for the Study of Education, Part II: Schooling and disability (pp. 108-140). Chicago, IL.
Fewell, R.F. (1986). The measurement of family functioning. In L. Bickman & D.L. Weatherford (Eds.), Evaluating early intervention programs for severely handicapped children and their families (pp. 209-232). Austin, TX: Pro-Ed.
Gillman, M., Heyman, B., & Swain, J. (2000). What's in a name? The implications of diagnosis for people with learning difficulties and their family carers. Disability and Society, 15(3), 389-409.
Goin-Kochel, R., Mackintosh, V.H., & Myers, B.J. (2006). How many doctors does it take to make an autism spectrum diagnosis? Autism, 10(5), 439-451.
Glascoe, F.P. (1999). Using parents' concerns to detect and address developmental and behavioral problems. Journal of the Society of Pediatric Nurses, 4(1), 24-35.
Merriam, S.B. (2002). Qualitative research in practice: Examples for discussion and analysis. San Francisco: Jossey-Bass.
Salganik, M.K., & Heckathorn, D.D. (2004). Sampling and estimation in hidden populations using respondent-driven sampling. Sociological Methodology, 34, 193-240.
Watson, S.L. (manuscript in preparation). Why do families seek a differential diagnosis? A search for meaning and support.
Williams, C.A., Lossie, A., Driscoll, D., & the R.C. Philips Unit. (2001). Angelman syndrome: Mimicking conditions and phenotypes. American Journal of Medical Genetics, 101, 59-64.
For further information, please contact Dr. Watson at firstname.lastname@example.org.