George's story: NEDHAHM

With Swan UK’S Undiagnosed Children’s Day taking place on Friday 29^th April 2022, we spoke to one family about their experience and what getting a genetic diagnosis means to them.

George, a 12-year-old boy from Surrey, has an extremely rare condition with a long descriptive name – Neurodevelopmental Disorder with Hypotonia and Autistic Features with or without Hyperkinetic Movements… or NEDHAHM, for short.

It is sometimes described as being ‘Angelman syndrome-like’, as more people are familiar with this condition. It is a mutation in the Vamp2 gene and causes global development delay, severe intellectual disability and epilepsy.

George’s mum Karen first became alarmed when George was a baby as he couldn’t sit up without being supported by cushions. At the age of one the family were told there was nothing wrong, but Karen became increasingly concerned when George started to experience head shakes. After undergoing several assessments, the family were told George had missed some developmental milestones and had a global developmental delay, and were referred to a geneticist.

Prior to getting a diagnosis George was refused entry into a private nursery because he was unable to walk. Karen says: "Of course if I had a diagnosis, I could have proved that this was illegal. All very upsetting. An early diagnosis would have helped George’s case but of course we didn't have one.”

Getting a diagnosis

Karen wasn’t expecting a cure from a genetic test. She and her husband wanted to know if George’s condition had any additional complications that they needed to plan for - or even, a shortened life expectancy.

Initial tests focused on specific genetic conditions, such as Angelman syndrome, but because these yielded no results George was enrolled in the 100,000 Genome Project. His whole genome and those of his parents were sequenced to see if a genomic answer could be found.

Three years ago the family received the diagnosis from their genetic consultant and rare disease specialist, Dr Meriel McEntagart, who had analysed the findings and found the cause.

Karen and her husband say having the diagnosis gives them a sense of relief about what has caused George’s condition. It also provides them, George’s school teachers and carers with clarity about how best to meet his needs, and also what the future may hold.

In addition, Karen is now able to connect with and exchange information with other parents around the world whose children have the same condition.

Whole genome sequencing and undiagnosed rare diseases

Around 6,000 children are born in the UK every year with an undiagnosed condition – a situation that makes it much harder for them to receive essential, perhaps even time-critical, treatment and therapies at the earliest possible stage. This means many families across the country face an uphill struggle to find the information, support and services they need until a diagnosis is in place.

At Genomics England we’re keen to highlight the positive impact early genetic testing – and in particular the use of whole genome sequencing – can have on the lives of these young children and their families.