The Toll of Dravet Syndrome, Through One Family’s Eyes
Advocacy Many people think of epilepsy as a minor, livable condition. But for one family, an uncommon and debilitating form, called Dravet syndrome, changed everything.
When you think of epilepsy, you typically think of a minor condition that can be lived with. However, you’ve probably never heard of Dravet syndrome (DS) — a rare form of epilepsy that has debilitating, lifelong effects on the patients.
Seeing the early signs
Will Bubela was diagnosed with DS at just nine months old. His parents, Bert and Leslie, first noticed a problem when their newborn son’s sleeping patterns became interrupted during naptime.
“His naps were odd,” Bert says. “He’d wake up after 30 minutes of a nap and scream for hours. It was consistent every day. We couldn’t figure out what was going on.”
While Will’s pediatrician wasn’t concerned at first, Leslie and Bert were convinced something wasn’t right.
At six months, Will suffered his first seizure. “He was in a stupor all through church,” Bert recalls. “Staring out into nothing. [Afterward, at home], he started seizing for 20 minutes. He was still seizing when the paramedics left with him.”
As they would find out is typical of DS, their baby ran a high fever along with his seizure so they assumed it was a typical febrile seizure. Several frustrating months of seizures later, Leslie spoke with a friend of a friend whose son was suffering similarly.
“As soon as Leslie got off the phone with them,” Bert says, “she looked at me and said, ‘That’s what Will has. It’s Dravet syndrome.’”
Getting the answer
Leslie and Bert immediately asked Will’s neurologist to perform the gene test for DS, and after a month’s wait, the result was positive. This was more of a confirmation for the Bubelas than a surprise, although they were hoping for a sunnier outcome.
The devastating reality of DS can be hard for families and parents to face. Kids with DS will, in most cases, never support themselves or leave home. There are also issues surrounding developmental disabilities. Now 7 years old, Will still isn’t potty trained and has the development of a child of age 2 or 3.
Hope for Will
“We’ve been fortunate with Will,” Bert reports. “His seizure control is quite good compared to [others with DS]. He talks. He loves to sing. He goes to school in a special education class. He’s a funny guy — a joy to everyone else. People are just drawn to him.”
Despite potential exciting advancements in DS treatment, Bert Bubela wouldn’t change Will’s current regiment since he’s doing so well. “But with Dravet, you never know what tomorrow will bring,” he adds. “It’s great to have a potential next step — just in case.”
In the end, support is vital. If you or someone you love has DS, reach out to the Dravet Syndrome Foundation, and they can put you in touch with other families. You’re not alone.