By Kina Leitner

My daughter, Nora, began having seizures at 4½ months old, and 20 years later, she still has them. During some periods in her life, day. Other times, she has gone as long as two years without a seizure.

That is what life is like with a child with Dravet syndrome, a rare, genetic seizure disorder that is extremely difficult to treat. Children like Nora with Dravet syndrome have all types of seizures from the exhaustive tonic-clonic (also called grand mal) seizures to absence seizures, during which Nora appears to just be staring off into space. On rare occasions, the seizures are continuous and that requires a trip to The Children’s Hospital of Philadelphia, where Nora has been treated for most of her life.

Dravet syndrome usually means developmental and speech-language delays and trouble with balance, growth, sleeping and a host of other functions. We focus on making each day, each month, each year the best it can be for Nora — and her care team at CHOP understands and walks with us as we progress toward that goal.

Over the years, Nora has taken at least 15 different medications to try to control the seizures; none worked well. Nora had a vagus nerve stimulator (VNS) implanted, which acts as sort of a “pacemaker” to stimulate the brain, but we don’t think it has helped. Still, Nora’s pediatric neurologist Christina Bergqvist, MD, continues working with our family to find a combination of treatments that will best help Nora.

Under Dr. Bergqvist’s direction, Nora went on the ketogenic diet. This very high-fat, extremely low-carb diet greatly reduced the number of seizures Nora experienced. I highly recommend it for any child with a seizure disorder. When Nora was on the keto diet, we saw her at her best. She was talking at grade level and doing wonderful things. Then, after two years, the diet stopped working and her frequent, severe seizures returned.

Nora is currently participating in a four hospital study examining if cannabidiol (CBD) oil is effective in controlling seizures. This is an extract from marijuana that has the “high” removed. It comes from a pharmaceutical company, so we know what she’s getting.

We’ve had some ups and downs, but now she’s fairly stable with one — or none — seizures a day. Best of all, she’s thinking and talking much better. I feel like I’m getting my kid back again. Through it all, CHOP has supported our whole family, listening to us and including us as partners in Nora’s treatment plan.

When Nora was 10, she nearly drowned in a swimming accident. As a result, she spent a month at CHOP. I was at her side the entire time, which meant I was often away from her brother, Ethan, then 4. When she was ready to begin rehabilitation we had a choice: She could move to Children’s Seashore House or do outpatient rehab. The attending said to us, “I think you need to go home and be together as a family.” We’ve experienced this kind of sensitivity over and over, from everyone, exemplifying the family centered approach CHOP is known for.

Having a sibling with a disability has been really difficult for Ethan, now 14. While he has received counseling from a CHOP psychologist, CHOP could still improve its sensitivity to the issues of siblings of chronic patients. Ethan has found ways to become involved in Hospital life by serving on the Youth Advisory Council, participating on a bullying focus group and acting as a patient representative on a research study on sleep disorders — all ways to use his CHOP experience to help others.

I’ve been a Family Partner for three years, serving on the Family Advisory Council and the Patient Safety Committee. Recently, I began to participate on several PCORI research studies, helping to shape the research. This marks another step in the evolution of family centered care.

When we first came to CHOP 20 years ago — before family-centered care was central to CHOP’s culture — the doctors huddled around Nora’s crib and didn’t take the time to explain things to me. Now, my input and questions are openly sought during daily medical rounds, and I’m encouraged to fully participate in deciding the direction of Nora’s care. As a Family Partner, I welcome the opportunity to help family-centered continue to grow.