Seizures are terrifying.
I witnessed a seizure for the first time when my son, Isaiah, was four months old. I held his rigid body in my hands as his eyes fluttered in the back of his head and his legs jerked uncontrollably. That first seizure lasted more than 10 minutes.
It felt like an eternity.
There are 40 kinds of epilepsy and more than 40 varieties of drugs to treat people who have seizures. For one in three people who have epilepsy, seizures are uncontrollable, even with medication. I never felt so powerless as when I watched Isaiah’s seizure. Later, as medication after medication failed, and his seizures continued, that feeling turned to hopelessness. We never solved his baffling seizures. On Isaiah’s 333rd day of life, he had a seizure and died.
Our lives stopped.
At the time of his passing, there was no known cause for Isaiah’s epilepsy. Frustratingly, his death was ruled as SUDEP, or Sudden Unexpected Death in Epilepsy. Death by SUDEP, like living with epilepsy, is shrouded in mystery.
In the final month of Isaiah’s life, we drew blood to determine if his epilepsy was genetic. Many forms of epilepsy are passed down through parents, but neither my wife nor I had any known epilepsy in our family tree. When he died, the lab had not yet processed his sample. Months later, we ran the test to determine if his epilepsy was genetic and to determine if it would be safe to have more biological children. The results were negative.
We had to live by faith that his death was unexplainable. We had another child, a son, who was born in 2012.
This past New Year’s Eve, we received a call from Isaiah’s neurologist. She had a letter from the lab that ran Isaiah’s original genetic testing. An updated test was now standard, and the lab had re-run Isaiah’s test.
Isaiah’s bloodwork was positive for Dravet Syndrome, a particularly severe type of genetic epilepsy that is fatal and diagnosed only in the first year of life. The updated test found the faulty gene. Emotions swept over us, including concern about our other two children, but we were beyond relieved to have the truth and to know our other children were clear of risk.
Thanks to a new and ambitious global genetic database project, families like mine may not have to wait years to find out the truth. Families can work with hospitals, such as Lurie Children’s Hospital right here in Chicago, to get tested. That genetic data is then analyzed until the genetic cause of the person’s epilepsy is found. Findings are reported back to the person’s doctor and made available to advance research.
Isaiah’s blood at the lab was a one-of-one sample. Now, his genetic code can be compared and contrasted with thousands (and eventually millions) of others.
Not knowing the cause of Isaiah’s epilepsy and his death was incredibly frustrating. New advances in genetic testing are another tool in the fight to cure the mysterious disease that took the life of our son and give hope to those affected.
C. Renzi Stone is a board member of Chicago-based Citizens United for Research in Epilepsy (CURE).