Matilda had her first tonic-clonic (grand mal) seizure at only 4 months old. We were told it was most likely a febrile seizure. Then she had more. We were told she would probably grow out of it. We were told results from genetic tests wouldn't change how they treat the epilepsy, and made the decision not to have the tests done.
Then this March, Matilda was put on a new medication that made everything worse. We'd already requested genetic testing by then, because her seizures had gone from 1 seizure every 3-6 months to 2-3 seizures every 2-3 weeks.
When she started having a different seizure type (myoclonic) and it was our 3rd hospital stay in a short time, they rushed the genetic test. We got the results quickly. An SCN1A mutation.
What did that mean? Well, for starters the new medication should never be given to a person with this kind of mutation. How about that? I guess a genetic test *can* change how epilepsy is treated!
It also meant a diagnosis of Dravet Syndrome. This is lifelong and life-limiting. 1 in 5 children with this syndrome will die before adulthood. When your child is a baby, you worry about SIDS (Sudden Infant Death Syndrome). When your child has Dravet, you worry about SUDEP (Sudden Unexpected Death due to Epilepsy).
This disease will affect every aspect of Matilda's life. Her physical movements. Her intelligence. The way she communicates and makes friends. She will develop autistic-like behaviors and traits. It's a spectrum and we don't know where she will fall. Some kids can read and write a little, go to school, play musical instruments and join sports teams, though they will still be socially and intellectually behind their peers. Other kids will be non-verbal, wheelchair bound, and unable to take anything by mouth. Most kids fall somewhere in between.
It's really hard to imagine what the future will look like. It's definitely not going to be what we expected when she was born. But what we can do is love her everyday the way that she is.
We are in the observation stage of a trial. (Stoke Emporer, Phase 3) We have a little over a week before her first dose/sham. But if she ends up admitted to the hospital again we'll be withdrawn. We have been at Primary Children's Hospital every 2 weeks like clockwork since March due to seizure clusters, status seizures, or running out of home rescue medication. Yes, every time we take her it is necessary. We're doing everything we can to keep her at home as long as we can, but each seizure lowers her threshold and can make the next one come faster and/or last longer.
This trial medication could make a huge impact on her ultimate outcomes. Some patients have re-learned skills they had lost. Many achieve 90% seizure reduction. Studies and trials like this are only possible if they are funded. The Dravet Syndrome Foundation has funded many of these and have helped 3 Dravet specific drugs to become FDA approved. If you've read this far, I would ask you to consider donating so that families like ours can have hope that a cure may someday be found.