Our Journey with Doose Syndrome

My son James had his first tonic-clonic seizure on August 2, 2016. He was two years old. We were visiting friends in Morpeth, England at the time. Morpeth is home to a beautiful landscape and hundreds of farm animals. After five days of trekking around London, we all welcomed the relaxing home environment our friends provided. On the fourth day of our trip, we planned to go to Edinburgh, Scotland, but James awoke crying and began vomiting so I stayed home with him and everyone else went to Edinburgh. 

James and I napped, snacked, watched television, and played throughout the day. Around 5:40 p.m. he asked to go outside. He walked towards the door but then suddenly froze and fell backward. I caught him. The next few minutes were a blur. I panicked and thought, “I don’t know how to call 911 in this country, we are all alone, and everyone is at least an hour away by train.” I could not make my fingers work on my cell phone as I tried to call my husband while holding James in my other arm. He was still seizing and his face was ashen, elongated, and frozen. When James stopped moving and was silent, I perceived him to be potentially lifeless, and suddenly I was able to think more clearly. My husband answered on his Apple Watch and my frantic attempts to communicate were overheard by our other son and our friends. James had what I now recognize as a tonic-clonic seizure.

We called the emergency number in England, which is 999, and James was transported to a local hospital where he was admitted for observation. After three additional tonic-clonic seizures, we were transferred to a pediatric neurology ward at a hospital in New Castle, England. This was the beginning of our journey with myoclonic astatic epilepsy, also known as Doose syndrome.

We have had many challenges on our journey. We have long periods where we visit the hospital weekly for testing, observation, routine check-ins, and care for injuries. It's a lot of traumas for a child to manage while trying to develop socially and maintain a sense of agency. James has learning disabilities that are complicated by inconsistent cognitive capabilities. He is in a sub-separate classroom at school and afternoons are often spent in speech, occupational, or behavioral therapy. It has been difficult for him to feel a sense of belonging within a peer group. We have also encountered roadblocks to medical care. As parents, we spend hours negotiating with insurance companies, tracking available clinicians, managing payment plans to healthcare facilities, and coordinating information between providers. It's exhausting and infuriating at times, but we must do it. 

Working through these challenges has not been easy. I wish I could say we have the magic answer. We relish the small moments of laughter. We celebrate the wins. We lean into our support system. We give each other grace. On the days when it’s just too much, we cry and hug each other and know that tomorrow we can try again. I like to think of “putting on your oxygen mask” - whatever that looks like for you. For me, it is giving back to my community via our schools. Find what enables you to feel good about your value in this world and do it.

The epilepsy community is strong, generous, and advocates relentlessly for one another. I have learned so much from other epilepsy parents and people living with epilepsy. I have learned to speak up, ask questions, and stick around to hear the answers. Reading the stories of other parents who are raising children with epilepsy and seizures reminds me that we are part of a bigger narrative. Sharing our stories enables others to understand one another and apply what we have learned to our own experiences.