Using the Cloud to Help Diagnose a Rare, Debilitating Childhood Disease

There’s perhaps nothing more terrifying than being a parent of a small child, and watching them suffer from a seizure. There is a profound feeling of helplessness witnessing them convulse, not knowing how long it will last—or how much damage will be done.

“What you feel is impotence,” explains Julian Isla, whose son Sergio began having catastrophic epileptic seizures when he was two months old. “You get the feeling that you have to take care of your son, you have to protect him, and you can’t. That feeling of not being able to do anything as a parent, I think is the most painful feeling that a parent can have.”

Sergio suffered from his first seizure in the middle of a Christmas holiday, recalls Isla, who lives with his family in a suburb of Madrid, Spain.

“My wife called me to the bathroom and I could see Sergio having a seizure in there. I had never seen a seizure before, that was the first time ever, and in that moment, no doubt about it, I knew that something was terribly wrong.”

Initially, Sergio had seizures once every two months, but soon they were happening six, seven, eight times a day. One difference between epileptic and febrile seizures, which are caused when a child’s body temperature spikes, is that febrile seizures are over within 2 or 3 minutes. Often, when Sergio had a catastrophic epileptic seizure, his parents had to take him to emergency room care so doctors could induce a coma to stop the seizing, while trying to prevent severe neurological damage.

Isla and his wife were desperate to know what was wrong. The news was not good. At 10-months-old, Sergio was diagnosed with Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), a rare and catastrophic form of intractable epilepsy that begins in infancy and is associated with developmental and cognitive delays, movement and growth issues, and chronic infections, among other debilitating side effects.

Current treatment options are limited and the prognosis for these children is poor, but diagnosis is a critical first step. And like many rare conditions, diagnosing Dravet syndrome is difficult, complicated by the fact that little is known about the genes that cause the disease.

Read more at the source: http://news.microsoft.com/features/using-the-cloud-to-help-diagnose-a-rare-debilitating-childhood-disease/