Leo’s Story

When Leo Simon-Kaman was born at the end of 2019, we were overwhelmed with happiness and enjoyed the typical sensation of first-time parents, for an entire hour. One hour after his delivery, Leo started showing signs of seizures and was taken from us to the ICU. It was the beginning of an excruciating era spent mostly in hospitals and clinics, with loads of negative tests but clear signs of something not being right with our son.

Leo developed very slowly compared to other kids in his age group, but his condition never really conformed to any well-documented illness. It wasn’t until he was 7 months old, when the genetic test results finally came back and we learned that he has a dominant KCNA2 de novo genetic mutation of the gain and loss of function kind, p.Thr374Ala. We immediately started gathering all the info out there about the condition, and among others found this amazing parent network.

The similarities between Leo and the other kids with this particular mutation are striking: none of them can walk, talk, hold their heads or control their limbs. They all have trouble sleeping, eating and using their eyes for visual orientation and usually have strange muscle and brain activities that are classified as epileptic in varying degrees. However, they can also experience pure profound happiness with the simplest of things: Leo loves the sound of barking dogs, a stroke of Mum’s hair or his cheek and jumping together with Dad. Currently Leo is taking 2 kinds of anti-epileptic medication and is one happy kid unless he experiences any kind of discomfort – those are a major struggle for him and the rest of us as well.

We believe that learning Leo’s diagnosis was the first step towards a better life for our entire family. We hope that one day even this currently obscure condition can be controlled better as medical sciences advance. Until then, knowing that you’re not alone is already a huge help.

Leo and his family are from Budapest, Hungary.