Fragile X odyssey : a phenomenological study of Australian family experiences of delayed diagnosis

Abstract

Fragile X (FX) is a genetic disorder with a complex inheritance pattern, caused by a mutation on the X chromosome and transmitted by either a mother or father to their children. With a relatively high incidence in the population, it can cause a multitude of physical, emotional, behavioural, cognitive and social issues including ADHD, anxiety and severe behavioural problems, developmental delay, and communication and sensory processing difficulties. FX is the major genetic cause of intellectual disability and the most common single gene cause of autism, affecting people to varying degrees based on the degree of DNA mutation and gender. FX causes significant problems for individuals and their families, yet most have a delayed diagnosis and many remain undiagnosed due to its widely varied presenting symptoms and being relatively unknown, or misunderstood, amongst health professionals and educators. Families therefore experience an ‘odyssey’– an often long and difficult time of undiagnosed multifaceted symptoms that gradually unfold as the child grows, and a drawn out diagnostic process. This study is about the ‘fragile X odyssey’ related to not knowing the cause of the troubles. Using Interpretative Phenomenological Analysis (IPA),this research resulted in rich qualitative data from nine Australian families about what it felt like to experience the difficulties while not understanding that fragile X was in the family. In-depth interviews helped uncover this process-into-chaos, revealing negative effects on child and parent identity that was illuminated through looking holistically at the families as systems. Self-confidence and self-efficacy of parents were negatively affected, which in turn impacted on their abilities to respond appropriately to their children with fragile X. Parents tended to blame themselves for causing their child’s difficulties. Parent concerns about their children were often unheeded by health care practitioners and others who commonly blamed the parents as the cause. Parents, particularly mothers, consequently experienced guilt and a loss of self-efficacy due to not understanding that an underlying genetic mutation was the cause of the difficulties. Quality of life for children and families suffered as a result of them not knowing; life without the FX diagnosis was often extremely difficult and emotionally painful for the children and parents who had negative experiences at home and beyond. School experiences for some were extremely difficult. Parents wished they had known earlier about fragile X so they could understand the issues, allowing them to explain to the child, family and friends, and health practitioners and educators. It would have enabled them to seek appropriate treatments and therapies, and particularly early interventions to help maximise their child’s abilities. Families with multiple children affected by FX wished they had known earlier to allow them reproductive choices. Families had a depth of understanding, gained through ‘hands on’ experience, about issues related to FX and most actively sought information to support their children as best they could. Therefore, they have a wealth of experience to contribute to discussions about the diagnostic odyssey and how this process can be improved and lead to earlier diagnosis for all families with FX. Using qualitative methods can help deepen understanding of family experiences related to delayed diagnosis, and it is important that parent voices are heeded by professionals and included in decision-making related to fragile X policy and procedures to ensure earlier diagnosis for all families to avoid the fragile X odyssey. Highlighting the empowering nature of getting a diagnosis, and comparing this with the possibility of an early diagnosis, this sociological study fills a gap in knowledge by expanding on the experiences of the diagnostic odyssey of fragile X to see it within the context of whole family wellbeing.

Date of Award	2017
Original language	English
Supervisor	Laurie Brown (Supervisor) & Anni Dugdale (Supervisor)