We Had Never Heard of Dravet Syndrome – Until His Diagnosis

The first time I Googled "Dravet syndrome" was the day we got our diagnosis for our son Will – the first time I had ever heard "Druh-vay."

The very first adjective that popped up in the Google search was "catastrophic." I sat with that for several minutes. Catastrophic. My 6-month-old had something catastrophically different with him, something that has a 20 percent chance of taking his life before he reaches 18 years old.

What is Dravet syndrome?

Dravet syndrome is a rare, debilitating form of epilepsy (about 1 out of every 16,000). It begins in the first year of life. Will's first seizure was at 3 months old. Usually, Dravet is caused by a mutation in the SCN1A gene that controls the sodium channels in the brain. Will's mutation in the SCN1A gene is 1 of 3 in the world, making him even more rare in an already rare community.

Dravet syndrome is often treatment resistant, meaning a patient could be on 5+ medicines that all work differently and still have breakthrough seizures (been there). Dravet is hard to control. In our case, Will has been intubated 10 times due to seizures that refused to stop without so much medication that his body could no longer breathe on its own.

We have been on so many different medications, medication combinations, implants, a clinical trial, and Will still has some type of seizure activity every single day.

The effect of Dravet on daily life

Dravet is unpredictable and affects everyone. I have missed so many things in my young children's lives due to seizures. There have been times we would be at the park having a typical family day, and a seizure would hit, and we would have to pack up and leave long before we were supposed to.

Often, my husband and I take turns taking one of our children to practice, performance, etc., while the other stays home with Will due to seizures or potential stimuli that could cause him to have a seizure. Rarely do we have the luxury of going out as a full family of 5.

Developmental delays

Dravet is also linked to global developmental delays, meaning delays in every aspect of life. Will has weekly occupational, physical, and speech therapy. He is mostly nonverbal, with less than 20 words. (But he did say "mom" for the first time in 5 years recently – yay!) We recently had cognitive testing done, and Will is developmentally between 15 and 18 months old.

Problems with sleep

Dravet is also known for sleep disturbances. In our case, Will takes two sleep medications nightly and will still be up for 3+ hours at a time. This is one of the hardest parts of this diagnosis, never truly getting a break, no matter if it is day or night. Never knowing if we will sleep that night, if the next seizure will be the next one that ends up with us back in the hospital, or if SUDEP (sudden unexplained death in epilepsy, think like SIDS in infants) will silently take him from us one night.

What is life with Dravet syndrome really like?

All of this to be said, our life with this syndrome is also filled with joy. We have learned to revel in the little things, such as giggles as he watches his favorite video on Youtube over and over and over, or how he will take your hands and force you to play his favorite game, "peek a boo."

He has taught us patience, compassion, advocacy, and given us a fire to make the world a better place for him and others like him. While I will always mourn the life I imagined for Will without Dravet syndrome, I also type this as I sit next to the sweetest 6-year-old, content to wordlessly sit next to Mama and occasionally rub my leg because he likes the feel of my pants.

He is full of unburdened joy and that is where I find my solace among Dravet syndrome.