Barnet Hospital paediatrician Su Laurent sees at first-hand the impact on parents who have a child with Familial Dysautonomia.
"There are two issues parents have to contend with - the diagnosis and the long-term implications, which are major," she points out. Parents have often not heard of the condition."The first thing they do is Google it and they look at the worst possible outcome. It is very upsetting for them.
"The children get high blood pressure, vomiting and retching. It is very difficult to manage and can go on for long periods. The normal anti-sickness medication doesn't work and no parent wants to watch their child suffer in that way."
Currently dealing with three families, she says "the critical thing as a doctor is to help them with support and questions. It is important to empower the parents to manage any crisis.
"I can be on hand to advise them about what to do and when is the right time to come to hospital and get extra help. It is important they have a doctor they can trust. What I have found with FD parents is that they get together and support each other."
Despite there being no cure for the disease, Dr Laurent says: "FD children have a much better chance for a longer, healthy life than 50 years ago. It used to be that children would die in their teens but now children are living into their 50s and we are hopeful the small children we are looking after now will live longer than that."
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