Adults with epilepsy in social care could be on wrong medication

Researchers at the Epilepsy Society fear that adults in social care with epilepsy and learning disabilities could be receiving the wrong medication or treatment due to a lack of diagnosis.

And they are recommending that all adults with complex epilepsy and associated disabilities should be offered genetic testing to ensure that their healthcare needs are properly met.

Researchers at the charity carried out a study of 1,078 individuals with complex epilepsy who underwent whole genome sequencing through Genomics England’s 100,000 genomes project. Individuals were tested for mutations in a single gene – SCN1A – which can cause the severe childhood condition, Dravet syndrome.

Eight people were found to have mutations in this gene, which gives rise to Dravet syndrome, associated with multiple issues including frequent and prolonged seizures and developmental delay. There is also an elevated risk of Sudden Unexpected Death in Epilepsy for people with the syndrome.

Wrong diagnosis

Sanjay Sisodiya, Director of Genomics at the Epilepsy Society and Professor of Neurology at UCL, said: “To discover eight people with a specific rare syndrome in a group of people this size, is relatively high. This means those individuals could never have been properly diagnosed and may not have been receiving the most appropriate medications and treatments to optimise their care.

“Some commonly prescribed seizure medications actually exacerbate seizures in people with Dravet syndrome and should be avoided. But without a diagnosis, this may not be considered.

“In an ideal world we would review the childhood notes of all adults with refractory epilepsy for features of the syndromic diagnosis, but this is just not practical in a busy clinic and often the notes are not available.

“A comprehensive screening test is a cost effective way to screen for variants in multiple genes that might be associated with Dravet syndrome. And it could make a big difference to the individual and to their families.”

Hope offered by genetic testing

Clare Pelham, Chief Executive at the Epilepsy Society said the study offered real hope and potential relief for families who have been through decades of a diagnostic odyssey with no real answers.

“This study shows how genetic testing can unlock a condition many years down the line and offer hope of better treatments, even in adult life.

“It is heart-breaking to think there could be people in adult social services whose lives might be turned around by a simple genetic test, but who aren’t being given the opportunity to find out. It is imperative that the incredible breakthroughs that science is able to offer are made available to those who need them most.

“We are pioneering the use of genetic testing in epilepsy through our genetic clinics at the Epilepsy Society. But it is important that this becomes routine practice across the NHS.”

Daniel’s story

Chris and Marilyn Pinchen’s son, Daniel, was one of the eight people to be diagnosed with Dravet syndrome as part of the study. Daniel is 48 years old and had his first seizure at 11 weeks. He has spent most of his childhood and adult life in residential care.

Chris and Marilyn Pinchen describe the moment they received a genetic diagnosis for Daniel. “We were both shocked and surprised,” says Marilyn, “but suddenly everything fell into place. We had never heard of Dravet syndrome but all the problems and troubles that Daniel had experienced throughout his childhood and adult life, finally made sense.”

The Pinchens knew Daniel had epilepsy but they did not know why he was so severely affected. No-one could tell them why he had seizures when they brought him out of the relative dark of their flat and into the sunlight. Nor could they understand why a minimal amount of activity would cause excessive sweating, often leading to a seizure.

Medical tests

For the Pinchens, the diagnosis comes after almost five decades of uncertainties and unknowns, referrals to specialists, different treatment plans, medication changes and a slew of medical tests for their son including EEGs, ECGs and lumbar punctures.

Marilyn recalls: “At one point Daniel’s medication was changed to try and control his seizures and he ended up in a wheelchair. We didn’t know that the medication he had been prescribed actually made seizures worse in people with Dravet syndrome. If we had known years ago, it would have made such a difference to Daniel’s life. However, when Daniel was born, Dravet syndrome had not even been described in the medical books. We were always very appreciative of the medical care he received which was the best at the time.”

Daniel’s current medication is now being adjusted to optimise his health. He is taking four different seizure medications and although three of them are thought to be fine in Dravet syndrome, one of them is generally not recommended.

“Daniel is always very tired and has to be persuaded to get out of bed,” says Marilyn. “We are hoping that by gradually weaning him off one particular drug, it may restore some of his energy.”

Problems with posture

Chris and Marilyn are also relieved to find that Daniel’s posture – he leans forward and is slightly bent at the knee – is also characteristic of Dravet syndrome.

“In the past we have been told that he had scoliosis and that he should undergo physiotherapy for his knees. One teacher described him as lazy because he could not catch a ball. But we now know that both issues are part of having Dravet syndrome.

“Doctors have also been able to tell us that Daniel may develop problems with swallowing as he gets older and that his gait may be affected further. Although we cannot stop this happening, it is reassuring to know what is likely to happen so we can be prepared and ensure that Daniel has the right support.”

Concerns about inheriting genetic mutation

Chris and Marilyn have also undergone genetic testing themselves to check whether Daniel’s condition has been inherited from either of them. The majority of SCN1A mutations are not found in either parent, but there is a small chance of the mutation having been inherited. We were very relieved to find that neither of us had the mutation’” said Chris. “We have three other children and grandchildren, and it has been a great relief to be able to reassure them that the syndrome is not going to affect them.”