Ryker is a four-year-old boy who resides in New Jersey with his mother Charissa, father, and dog. He is fun-loving and his laughter brings a smile to any stranger’s face. He loves preschool, and some of his favorite activities are paging through his many books and going swimming. Ryker greatly enjoys and is highly motivated by music. Whenever it’s time for a sing-along in school, he immediately lights up and starts dancing. Fun little facts: Ryker’s favorite genre of music is classical, and his favorite movie is Disney’s Fantasia.
Ryker was diagnosed with epilepsy due to a rare variant in his CACNA1A gene shortly after his first seizure at four-months old. Ryker’s seizures present as status epilepticus, requiring emergency medical intervention and, sometimes, intubation. Unfortunately, this can be a common occurrence for those who have CACNA1A-related epilepsy, the severity of which is often compared to Dravet syndrome.
Initially, Ryker had a seizure every 5-6 weeks, despite trying several anti-seizure drugs. It wasn’t until he began the ketogenic diet, at the age of 1, that the cycle finally broke. Ryker was seizure free for nine months. Unfortunately, that did not last, and we struggled to find a medication that would get his seizures under control.
As a result, in October (2020), Ryker had surgery to implant a vagus nerve stimulation device. We have now shifted our focus towards safely stopping his status seizures at home, using various rescue medications.
Despite all of these challenges, Ryker continues to make significant gains with the help of physical therapy, occupational therapy, and speech therapy multiple times a week. He attends a school for children with special needs, which has been invaluable for promoting cognitive growth and skill development. We look forward to beginning ABA (applied behavioral analysis) therapy soon.
For our family, the biggest challenge was quality of life due to the constant stress and fear of not knowing when Ryker’s next seizure could strike. But epilepsy is so much more than just seizures. It’s the side effects of medications and treatments, developmental challenges, frequent trips to the ER and hospital admissions, and managing therapies and doctor visits. Epilepsy affects every aspect of daily living, especially sleep.
Recently, we began focusing on reducing trips to the ER by implementing a better emergency protocol. Administering rescue medications immediately upon the onset of a seizure has helped reduce ER visits and the stress that comes with them. Most importantly, learning to live in the moment and cherishing the good that most days have to bring has helped immensely.
Our family’s advice to others is to seek out your epilepsy community, whether this is a foundation or a Facebook support group. You will find invaluable support from these groups and know that you’re not alone on this journey. Also, having a written seizure protocol to provide treating doctors and caregivers has been a literal lifesaver.
Because CACNA1A related epilepsy can be so complicated, it is important for doctors to understand that the “standard protocol” for medically treating seizures is not necessarily the protocol that is used for our son. After all, each second counts when treating status epilepticus.
The Epilepsy Foundation is a primary source of information for us when seeking answers to our epilepsy-related questions. For example, we found the Epilepsy Foundation’s information on SUDEP and nighttime seizure activity to be an excellent resource when researching sleep monitoring devices. The website provides links to recommended sleep monitors, which helped us find the device we now use for Ryker.
Our understanding of just how complex epilepsy began when our son was admitted to the hospital to start the ketogenic diet. We met many other parents of children with various conditions during that week, from Lennox-Gastaut syndrome and Dravet syndrome, to hydrocephalus. Speaking with them and hearing their epilepsy stories helped us realize that we are not alone. We will never forget the many faces representing epilepsy and how diverse and resilient this amazing this amazing community is.
For all the caregivers out there, be patient and take it one day at a time. Epilepsy can be a very tricky road to navigate. Learning how to handle the setbacks while continually moving forward is key.
More Resources from the CACNA1A Foundation
• CACNA1A Foundation Website
• CACNA1A Foundation's Facebook Page
• CACNA1A Foundation's Twitter
• CACNA1A Foundation's Instagram