Genomics case studies
Aidan's story
At age 30, Aidan was no longer responding to emergency medication. Four times he was put into an induced coma to stop his seizures. Then genetic tests revealed he had a mutation in the SCN1A gene which was causing Dravet syndrome, a severe form of epilepsy. By prescribing him different medication, we were able to help bring his seizures under control.
Billy and Danny's story
Billy and Danny Knight are both in their early thirties and suffer from a creatinine deficiency. This means that they don’t produce a substance called creatine which produces energy to our brains. This causes their seizures.
At its worst, Billy was having between 500-1,000 seizures a day. As the anti-epileptic medications they were prescribed weren't working, a registrar at UCLH suggested they have some tests done. The tests came back positive and Billy was the first adult in the UK to be diagnosed with a creatinine deficiency.
The boys now take a creatine supplement, which helps to control their epilepsy. They have been taking the creatine for two and a half years and are now seizure free. However, they lack communication skills and have learning disabilities.
The boys live in supported living near Clacton-on-Sea in Essex. They each have 2-to-1 care, 18 hours a day.
Anna's story
Anna Coe has undergone 27 years of different medications and brain surgery to try to control her epilepsy. She has often felt that the trial and error of different medication changes has led her down dead ends and left her feeling exhausted.
"I have had 27 years of trial and error with so many different medications, or combinations of medications," she says. "In 2011 I underwent surgery to remove the part of my brain that was causing my seizures - that worked for two and a half years, but then my seizures returned."
But now, after almost three decades of treatment, Anna is hopeful that her neurologist may have found the cause of her epilepsy and that this could open up new, more focussed treatment options for her.
Anna has had her DNA sequenced as part of the 100k Genomes Project and her neurologist, Professor Sanjay Sisodiya, Professor of Neurology at UCL Queen Square Institute of Neurology and Director of Genomics at Epilepsy Society, is hopeful they may be able to pinpoint the cause of her epilepsy.