Epilepsy Research UK supporter

Iain’s two-year-old daughter Isabelle lives with an extremely rare DNM1 gene mutation. This affects how neurones in her brain talk with each other, causing seizures that sometimes put Isabelle in hospital. Here, Iain shares more about Isabelle and her story, and why supporting research is so important to them. 

This year I decided to take on three huge cycling events in aid of Epilepsy Research UK, covering 630km in the process. The warm-up event was Ride London-Essex 100 in May, before completing the 300km Dragon Ride in June. The grand finale in July was the world famous L’Etape du Tour de France, which covers the same course as stage 12 of the Tour de France. The punishing route involves a total altitude gain of 4,700 metres – over half the height of Mount Everest.

You may ask, why did I put myself through this?

Put simply, it was for my amazing daughter. Isabelle has been diagnosed with an extremely rare mutation of her DNM1 gene, which causes drug-resistant epilepsy. Due to advancements in genetics, Isabelle’s gene mutation was discovered fairly recently and is therefore relatively unknown. One study of this condition could only gather information on 20 children worldwide.

The gene DNM1 controls a process called endocytosis, which is essential for normal brain communication. If this process is affected, it can result in severe seizure activity. For Isabelle, it has also resulted in us knowing the lovely staff on the children’s ward of our local hospital extremely well.

Due to the gene mutation, Isabelle also suffers from severe hypotonia (low muscle tone). At 2 years old, she is unable to hold her head or sit unaided. Hopefully getting more control of her epilepsy will enable us to work on her core strength with specialist physiotherapy.

But with so much still to discover about Isabelle’s condition, we have hope. There is fantastic research being carried out focusing on how to boost endocytosis, which could limit or eliminate seizures entirely – potentially creating new drugs for hard-to-treat epilepsies. However, this is very early days.

I took on these three cycling challenges to help spread awareness of epilepsy, as I understand how difficult the condition is to live with and how scary it can be due to its unpredictable nature. But I also wanted to help spread awareness of the fantastic work Epilepsy Research UK do in enabling life-changing research. It’s only through more research that there is potential to make a significant difference to Isabelle’s life.

We’d like to say another HUGE thank you to Iain for his incredible support and for raising over £4,300 for vital research into epilepsy this year. Research that has led to improvements in treatment and care would not have happened without our dedicated supporters like Iain.

If you’d like to be part of #TeamERUK, a powerful community working together with researchers to achieve a life free from epilepsy, find out more here.