Bhavna Vadukul, BSc, MSc, Genetic Counsellor
Work undertaken as an MSc dissertation, currently unpublished
Why was this study done?
- To date, no other research has been conducted on the lived experience of affected individuals and their families living with these conditions.
- Medical professionals require further knowledge about these conditions in order to provide appropriate support to affected individuals and families.
- There is a general lack of research on the psychosocial impact of rare and ultra-rare conditions such as Timothy syndrome and CACNA1C-related disorders.
What did the researcher do and find?
- Semi-structured interviews were conducted with seven participants, all of whom were aged 18+, and who either had a family member with one of the above conditions, or were affected themselves.
- Questions regarding the diagnostic journey, healthcare and education experiences, access to relevant information and support, social activities, societal attitudes, and patient support groups were asked.
- The interviews were transcribed and analysed using the technique of thematic analysis. This process sought to understand the thoughts, experiences and behaviours of participants, and to identify common themes that provided important insights which addressed the research question.
- Three overlapping themes were identified: Diagnosis and Labels, Seeking Information and Support, and Rare Disease.
Diagnosis and Labels
Participants described diagnostic journeys that were usually long and drawn-out, and where they often had to persuade clinicians to take their concerns seriously. There were also negative experiences of how diagnosis was communicated by doctors, including a lack of sensitivity and personalisation. Uncertainty was a common reaction to diagnosis, with considerable anxiety expressed about life-threatening cardiac events and life expectancy. There was clear frustration with clinicians’ abilities to predict if and when cardiac symptoms might occur, and how serious they could be.
For those families receiving a variant of unknown significance (VUS) diagnosis, there was additional uncertainty about their particular gene alteration being responsible for symptoms and features. Diagnosis brought relief for most participants as it provided a cause and explanation for symptoms, features and behaviours of affected individuals. Diagnosis also facilitated greater access to financial and educational support; however, there were still challenges for families in ensuring this additional support was received.
Seeking Information and Support
There was a lack of genetic counselling support available to participants, with all diagnoses being made via access to doctors or research studies. Most participants indicated that they would have liked genetic counselling at the time of diagnosis. There was disappointment with the general shortage of knowledge and support from local clinicians, which often led to participants carrying out online research and seeking out experts further afield, often abroad.
These experts were able to support families by signposting to other sources of support such as patient support groups, and by validating families’ decisions regarding treatment and management. Participants frequently found the process of locating information to be frightening, and concerns were voiced about the perceived misinformation that might be discovered.
The lack of knowledge about these conditions among the medical community meant that many of the participants felt a responsibility to become lay experts so that they could advocate for particular treatment and management strategies, and improve their caregiving capacities. The educational material posted on patient support group websites, and seeking access to medical experts helped to arm these individuals with the knowledge they were in search of. Conferences and meetings organised by patient support groups were another way for participants to build expertise.
In general, it was found that connecting with other families and sharing experiences reduced feelings of isolation and helped to form a collective identity around the condition, which in turn, fostered a sense of belonging. However, like the internet, conferences were also identified as places that were risky because of the danger of seeing other affected individuals and hearing stories that may be upsetting, and act as possible indicators of the future.
What do these findings mean?
Non-genetics health professionals require awareness of how the individual features of these conditions may be part of a genetic syndrome, and refer patients to clinical genetics services for genetic testing in a timely manner. In addition, clinical genetics services have an important role to play in educating these clinicians about when and why to refer such patients, and the impact that a long diagnostic journey can have on affected individuals and their families, both practically and emotionally.
How diagnosis is communicated needs to be carefully discussed with families and affected individuals before genetic testing occurs. Patients and families should be asked how they would like to receive a diagnosis and how much information they would like to be given at that time. Ongoing genetic counselling support should be offered to help families adjust to a diagnosis, and to signpost to reliable sources of information.
While clinical genetics services generally do not reassess the evidence for VUS diagnoses unless there is a clear clinical reason to do so, carers and patients should be encouraged to stay in contact if they would like this to occur, as many do not know that this service can be made available to them in the right circumstances.
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