Today, the Firefly Garden attended SWAN UK’s Undiagnosed Event in Northern Ireland. We received a crash course in genetics but more importantly we found out what it was like to be a parent of a severely disabled, medically complex 5 year old boy who is yet to receive a diagnosis for his condition.

​It’s difficult in the short space of a blog post to convey all the ‘science’ behind genetics and what’s involved in diagnosing a genetic condition but we’ll give it a go.

Although many children have a list of symptoms - learning delay, visual impairment, scoliosis, talipes, hydrocephaly, feeding issues, epilepsy and so on - what is often missing is an overriding diagnosis pulling all these symptoms together to give the child a Syndrome name.

In these situations, children are often referred to as SWANs (Syndrome without a Name). Approximately 50% of children undergoing genetic testing through the NHS may not get a diagnosis for their condition. It is estimated that 30-50% of children with a severe learning difficulty or congenital abnormalities may not have a diagnosis to explain the cause of their disabilities.

The problem is there are over 5,000 known syndromes, and it is estimated another 5,000 still to be discovered. So, if Doctors believe that a child is likely to have a genetic condition where do they even begin to look for a specific diagnosis? We heard from Dr Deirdre Donnelly and Dr Shane McKee, Consultants in Genetic Medicine and DDD (Deciphering Developmental Disorders) Researchers, they talked us through ruling out other reasons for the cause of the disability including medications taken during pregnancy and injuries during labour, looking for physical characteristics that may guide a geneticist towards a diagnosis, this may include things such as a prominent forehead, low set ears, wide spaced teeth and family history. We heard about the various testing techniques available from Karotype, which looks at the whole chromosome and which would diagnose conditions like Down’s Syndrome, to the Microarray which looks for deletions and duplications within a chromosome to finally the most recent from of testing available the Genome Sequencing which is looking for specific gene mutations.

We should add here that there are over 25,000 genes in the human body and we still don’t know what they all do… Most children who are undiagnosed have been through all of the genetic testing available today, but it is a fast moving field and new things are being discovered everyday - Dr Donnelly and Dr McKee remain hopeful that children who are currently undiagnosed will receive a diagnosis for their condition in the future. But for families living with an undiagnosed condition, hope is not always enough. With genetic testing taking years, these families, just like those of children who have a diagnosis, still need help and support. They are all facing similar battles and struggles.

Here in the UK, undiagnosed families look to a support group called SWAN UK which is run by the Genetic Alliance. The group has over 900 UK members with various regional groups - they support each other through social media as well as having regular meet-ups in their local areas and support each other during hospital stays. Maura McCrystal, mum to Jack who is 5 and has an undiagnosed condition spoke today about how valuable she has found this support, knowing that at any time of night or day there will be another SWAN UK member who will reach out with advice or a virtual hug to help you through a difficult period. Despite this invaluable support, a diagnosis remains extremely important for the majority of families with undiagnosed children. They are very proactive when it comes to finding a diagnosis for their child; seeking out research projects that their family may be eligible for, looking for children with similar symptoms and researching medical papers. The reasons for wanting a diagnosis differ, for Maura it’s about peace of mind and finally knowing exactly what has caused Jack’s problems allowing them and their sons to plan for the future.

We hope that members of SWAN UK will now find the Firefly Garden a useful additional resource in widening their opportunity to reach out to families across the world.

If you’d like to share your share undiagnosed story get in touch [email protected]

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