Parent's perceptions of interactions with health professionals in the pathway to gaining a diagnosis of tuberous sclerosis (TS) and beyond.
Parents of children with rare genetic conditions remember how clinicians made them feel—fight for their concerns and share information generously.
01Research in Context
What this study did
Researchers talked to 20 parents whose children have tuberous sclerosis.
They asked parents to describe every meeting with doctors from first worry to final diagnosis.
Parents shared stories in face-to-face interviews that lasted up to two hours.
What they found
Parents remembered two things most: feeling heard and getting clear facts.
When doctors said "I believe you" and drew pictures, parents felt safe.
When staff rushed, used jargon, or looked at the computer, parents felt shut out.
How this fits with other research
Préfontaine et al. (2019) show parents still enter genetic testing expecting a cure.
Together the papers reveal a gap: parents want answers, but clinicians rarely explain limits up front.
Perry et al. (2024) prove parent training can fix this. Their FACES program taught Black families of autistic children to ask tough questions and keep records.
Sixteen months later those parents still felt powerful.
The 2003 study cries out for exactly that kind of skill-building, but for TSC families.
Why it matters
You can shorten the diagnostic odyssey for rare disorders. Start by asking parents, "What do you already know?" Then sketch the next steps in plain words. Offer a written summary before they leave. These micro-changes cost nothing and build trust that speeds later therapy.
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02At a glance
03Original abstract
This paper presents selected findings from a qualitative study on the lived experience of young people with tuberous sclerosis (TS) and their families. In-depth interviews with 109 participants from 40 families were undertaken. This paper presents the findings in relation to parents' interactions with health professionals before, during and after a diagnosis of TS was given. The majority of parents recalled examples of both positive and negative experiences with health professionals. Negative experiences included having to 'fight' for the recognition of symptoms and the reluctance of doctors to move on beyond a diagnosis of epilepsy. Attributes valued by parents pre-diagnosis included health professionals showing understanding at diagnosis, flexibility, support, accessibility, time and attention, honesty, reliability, sensitivity and post-diagnosis a willingness to find out and share information and to consult colleagues and other professionals. The interviews indicated that these were not always demonstrated by professionals.
Research in developmental disabilities, 2003 · doi:10.1016/s0891-4222(03)00013-1