A Family of Advocates as a Result of Rare Epilepsies
When I was growing up, one of my beloved cousins, Frank, had epilepsy. Through watching his experiences, I was aware of the impacts of living with epilepsy: the social stigma, the struggle to find the right medication and side effect balance, and how even small changes could trigger seizures. He didn’t let it stop him from living and loving life, though. He brought joy, and sometimes worry too, to everyone around him.
Frank was only 24 years old, and I was a freshman in college when he had a seizure and died in a car accident. Our family was large and close-knit – and we were all devastated. I decided to make epilepsy the topic of my final presentation in speech class that semester. It was well-received by my classmates and professor, and it was good for me to be able to talk about Frank and honor his life. Little did I know that this was just the start of my epilepsy advocacy journey.
Ten years later, I became a mother to a beautiful baby girl named Macie. By the time she was 1 year old, we noticed some brief muscle twitches in her arms, legs, and sometimes her eyes. It didn’t occur to us or her doctor that what we were seeing might be seizures. They were so different than the convulsive seizures that Frank had experienced.
Finally, when Macie was 19 months old, she experienced a very long episode where she lost awareness and stared. We knew that something really was wrong and insisted her pediatrician follow up. She had an EEG the next day and was diagnosed with epilepsy. I had so many emotions and questions about the diagnosis. Would she face the same struggles that I’d watched my cousin Frank endure? We were told not to worry, and that she would find medication to help.
We were told Macie would be fine, but she was not. The first few drugs she tried failed. Some just didn’t work, some made things worse, and some caused side effects ranging from mild to life-threatening. She was having hundreds of seizures a day.
After a particularly severe and scary reaction to a new medication, I knew something had to change. I wanted her to try a ketogenic diet. We had to change doctors and travel several hours from home to give her the chance to try it, but she became seizure free as soon as she got into ketosis. It was as if a fog had lifted from her brain, and she was blossoming.
When our youngest daughter, Maggie, was 2 1/2 years old, she experienced a febrile seizure. We recognized what it was and called an ambulance, but it had ended by the time the paramedics arrived. We were heartbroken, but the pediatrician reassured us that it likely wouldn’t happen again. About a year later, Maggie experienced another febrile seizure, and this time we drove her to the hospital ourselves thinking it would likely stop by the time we got there, but it did not.
She ended up with a five-hour status epilepticus event that required intubation and being airlifted to a children’s hospital an hour away. It took several weeks after that status event for her to regain walking, talking, using the toilet, and other skills. There was lingering damage, and Maggie had trouble learning and development delays. There were no more seizures, however, until she was a teenager.
Doctors assumed there was a genetic link between Macie and Maggie’s seizure experiences, but they didn’t try to find the root cause. After very long and different diagnostic odysseys for both, Macie was finally diagnosed with Glut1 Deficiency and Maggie has a GRIN2A variant, which are two different rare genetic epilepsies.
Seizures have caused so many burdens for our family and for so many people we love. We can’t help but think about whether our lives would be different if we hadn’t had to work so hard for a diagnosis and wait so long for answers.
Our journey has created a family of advocates, though, hoping to help others avoid what we couldn't.
Reviewed By: Sara Wyen