In June, Arthur experienced his first tonic-clonic seizure, which lasted 28 minutes and caused his lips to turn blue. The seizure did not stop until EMS administered rescue medication while transporting him to the ER. Since June, Arthur has had five seizures, resulting in multiple ambulance rides, two life flights, and numerous doses of rescue medication. These seizures have also led to 15 days spent at Children’s Hospital, a 72-hour EEG, two MRIs, multiple blood draws, and genetic testing. Unfortunately, Arthur is no stranger to needles or monitors.

Our first visit to Children’s Hospital gave us no indication of what was wrong with Arthur. He had been a healthy baby up until that point. He had no fever and was playing with his dad when he began seizing. After an EEG and an MRI, the doctors had no new findings to explain his seizure. Arthur was sent home on anti-seizure medication with a follow-up appointment scheduled.

A little over a month after starting his anti-seizure medication, Arthur experienced another seizure. This time, his lips did not turn blue; however, the seizure lasted 30 minutes. Once again, he was given rescue medication in the ambulance on the way to the hospital. This seizure resulted in Arthur taking hif first life flight to Children’s Hospital. Unfortunately, the medical team was still unable to determine why Arthur was experiencing these prolonged seizures. We were advised to have a genetic panel completed. Arthur was sent home on another medication, and we were approved to have rescue medication available at home. We were hopeful these changes would help us in the long run.

About two weeks later, Arthur experienced two seizures just two days apart. One seizure happened at daycare, and we are incredibly grateful to the staff for acting quickly and getting Arthur the care he needed. This seizure brought Arthur to the ER, but he was discharged the same day.

Two days later, Arthur experienced another seizure, this time while sleeping. Thankfully, we use an Owlet device that alerted us to his low oxygen levels. Without this device, we worry about what might have happened. By the time we reached him, his lips had turned blue, and his oxygen levels were dropping below 60%. We were able to administer his rescue medication, and after about two minutes, his oxygen levels slowly began to rise again.

Arthur was transported to Children’s Hospital by life flight yet again. This hospital stay included more tests, but nothing significant came from the results. This time, the doctors linked his seizure to a fever. It was the first time Arthur had ever experienced a seizure while running a fever. Once again, we were sent home a few days later with an increase in his medication.

In early September, we finally received the results of Arthur’s genetic testing. We learned that Arthur had a mutation in his SCN1A gene. This mutation occurred spontaneously and was not inherited from either parent. We finally had an answer as to why Arthur was experiencing these seizures. Although we had an answer, we were still unsure about the severity of his mutation. The genetic counselor mentioned Dravet syndrome, but explained that not everyone with an SCN1A mutation develops the same condition.

With this news, we knew we needed to transition Arthur off one of his current medications because it could worsen seizures associated with his mutation. Under the guidance of his neurologist, we began gradually weaning him off that medication while introducing a new one. 

A few weeks after learning about Arthur’s genetic mutation, he experienced another seizure. This seizure was triggered by a fever; however, the rescue medication did not work as expected. He ultimately needed rescue medication administered twice. Back to Children’s Hospital we went. During this visit, Arthur was officially diagnosed with Dravet syndrome.

This is not a diagnosis any parent wants to hear, especially because every case of Dravet syndrome is different. Not knowing what the future holds for Arthur is one of the hardest parts of this journey.

As we navigate becoming new parents, we are also learning how to navigate this new diagnosis. Being a medical parent is not easy, and neither is living with the uncertainty of what the future holds for Arthur. As we continue learning about his condition, we hope to find the best care and medications to help him along the way.

Since Arthur’s diagnosis, we have been fortunate to connect with an amazing neurologist at Children’s who has worked closely with the Dravet Syndrome Foundation. Our neurologist serves on the Foundation’s Medical Advisory Board and has a wealth of knowledge about Dravet Syndrome and emerging treatment options. We are incredibly grateful to have someone guiding us through this journey and helping us navigate the unknown.

We want Arthur to have the best life possible! We would love to raise money for kids and adults like Arthur, so they can have somewhat of a "normal" life. All funds raised on this page will go directly to the Dravet Syndrome Foundation to be used for research, and financial assistance for families caring for those diagnosed with Dravet.