by: Dr. Derek Matheson
It was one year ago this week when our, then, four-year-old little girl Remi, had her first seizure. She was diagnosed with Angelman syndrome in June of 2018. Remi has an imprinting center defect, which is a more unique genotype of Angelman syndrome. My wife, Chrysti, and I were optimistic about the possibility that Remi might remain seizure-free since she made it past her fourth birthday without one.
Unfortunately, we were wrong. Remi had a prolonged seizure in our kitchen with Chrysti while I was at work, forty miles away. We are fortunate enough to have a children’s hospital here in Tulsa, Oklahoma. I was able to meet them at the hospital by the time the ambulance arrived.
There was a young emergency room physician with whom I was very impressed. She listened to my wife explain the seizure and watched the video Chrysti took of the seizure. She freely admitted that she was not an expert in Angelman syndrome seizure care but knew that Remi was improving enough not to have to be admitted to the hospital. She told us it looked like an atypical absence seizure, which is the most common seizure type for Remi’s genotype. Overall, our family is very lucky, and we would call this a successful medical experience.
Unfortunately, I feel this is the exception and not the rule. I’m willing to bet that most of our community does not live within easy driving distance to a children’s hospital. Also, most physicians are probably like me, where the last time I heard the term Angelman syndrome prior to Remi’s diagnosis was in medical school. All I recall was that sadly, this condition was termed “The happy puppet syndrome”, and as we all know that is an inappropriate description of our children, and likely the only thing most medical professionals remember about the condition. The medical world, and especially the rare disease world, is just too vast for anyone to know about it all. Remember, there are over 7,000 rare diseases, and many of them are associated with epilepsy. Each of these conditions have their own nuances that make different medical treatment plans unique to each diagnosis. Individuals with AS respond quite differently to standard anti-epileptic medications. Only the experts treating AS regularly are aware of these nuances.
Thus, the announcement of FAST funding this first-ever Emergency Care Consortium for Angelman syndrome is a unique blessing for us in the Angelman community and my colleagues in the medical community. This is a chance for us as parents and caregivers to be proactive in advocating the best possible treatment for our loved ones, even in emergency settings where possibly the provider has never seen or heard of Angelman syndrome.
Honestly, medical professionals welcome resources like this from experts in fields we rarely see. I, for one, would relish this type of opportunity. I possibly see this in my future as I now have two patients with Angelman syndrome, besides my daughter, that receive care at my facility. Even though we have a neurologist on staff, he too admits that he is not an expert in Angelman syndrome-related epilepsy, and welcomes feedback on the best standards of care for his patients.
Secondly, even the experts need data to continue to advance therapies and test theories with rare diseases. The more we as a community engage with this Emergency Care Consortium—the more our experts can learn. This is so vital with rare diseases where every encounter, every data point, carries weight with potential to change practice or standards of care.
I believe, for this to be successful it will need to be a grassroots effort within the entire Angelman syndrome community. The hotline, which will be available in July 2021, is free of charge and available 24-hours a day and seven days a week. All parents and caregivers should have a copy of the number to the 24/7 hotline with them at all times. I would recommend either laminating a copy or creating a PDF copy for your smartphone. If you are seeking urgent/emergent care, especially for seizures, have the provider discuss their plan with the Emergency Care Consortium provider before starting ANY antiepileptic medications other than rescue benzodiazepines. Believe me, I as a hospital physician would love to have this resource.