The birth of a child brings numerous changes to family dynamics, which become even more profound when the child is born with special needs. Coping with the diagnosis of a rare disease represents a significant psychological and social challenge for the family. Upon receiving the diagnosis, family members often experience shock, sadness and anger. The process of acceptance is individual because every family member develops different ways to cope – someone resorts to sport, someone turns to substance use (e.g., cigarettes), some find comfort in talking, and so on. The way of coping also depends on many other factors, like personal characteristics, the stability and quality of the marital relationship, the level of family cohesion and communication, the availability of support from loved ones and society, time of diagnosis and the manner in which healthcare professionals communicate the diagnosis.
Phelan-McDermid syndrome is one of rare genetic disorders, which affects fewer than one in 2,000 people. This syndrome is rare, lifelong and complex condition, caused by a deletion on chromosome 22q13.3 or a pathogenic variant in the SHANK3 gene. It results in global developmental delay, hypotonia, severe speech and language impairments, autistic-like behaviors and various comorbidities such as sleep disturbances, epilepsy, sensory dysfunction, and gastrointestinal problems (constipation). Due to the rarity of the syndrome, the diagnostic process is often prolonged, during which family faces many challanges and feelings, especially with feelings of helplessness and insecurity.
In the theoretical part of the thesis we described the family, which is the fundamental social unit, in which people get their first emotional and social experiences. We have presented in detail the five stages of coping, through which family members go during the process of accepting the diagnosis of a child with special needs: shock and denial, anger, bargaining, sadness or depression, and acceptance. Furthermore, we have described characteristics of Phelan-McDermid syndrome and protective factors in the process of coping – support from family and loved ones and risk factors. We have provided a historical overview of society’s attitudes toward special needs with intention to expose fact that society still rejects people with special needs.
As part of the master’s thesis, we explored the process of how a family copes with a child’s diagnosis of a rare disease (Phelan-McDermid syndrome). The purpose of the research was to examine how the family experiences the process of confronting the diagnosis of a rare disease. We investigated how the timing of receiving the diagnosis influences the coping process and what differences exist in the challenges and coping with a child with special needs before and after receiving the diagnosis. We also explored whether there are differences in the coping process among family members depending on their role in the family (mother, father, grandmother) and what these differences are. The work is based on the understanding that the diagnosis of a rare disease significantly affects the family and its life dynamics, requiring the family to accept a new reality and adapt to it.
A multiple case study was conducted on a convenience sample, involving three individuals (the mother, father and grandmother) who are most involved in the life of a girl with Phelan-McDermid syndrome. The study used a descriptive and causal non-experimental method of pedagogical research. The research showed that family members (mother, father and grandmother) cope with the diagnosis of Phelan-McDermid syndrome differently, depending on their role in the family, their personality traits and their sources of support. The study also confirmed that there are differences in the challenges and coping processes with a child with special needs before and after receiving the diagnosis, and that this is a long-term process. The results confirm that the timing of receiving the diagnosis has a significant impact on the coping process, as only the moment of diagnosis truly initiates the process of coping with diagnosis of rare disease (Phelan-McDermid syndrome). It also enables faster adaptation, planning of therapies and the establishment of appropriate support systems. The study found that grandparents are an important source of support, even though they themselves face dual concerns – caring for their own child as well as for a grandchild with special needs. The results showed that similar characteristics of individual phases of coping emerged in all interviewees.
Although Phelan-McDermid syndrome poses a major medical challenge due to its rarity, the master’s thesis emphasizes the psychosocial aspects and challenges of the syndrome, which call for a holistic approach to the family. The master's thesis contributes to the understanding of the emotional and social processes involved in coping with the diagnosis of a rare disease. The key factors for successful coping are the timing of receiving the diagnosis, access to appropriate support and professional help, the availability of accurate information and the holistic treatment of the family. Only through these means can family members reshape their expectations and adapt them to the new reality, establish a new balance in family life, fully accept the child with special needs and improve their quality of life.
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