Shayne entered the world on Easter Sunday in 2012, and his first few months of life were blissful. He was a healthy growing baby, and as the first grandchild on both sides he received an abundance of attention. On the day he turned 7 months old, everything changed. As our family of 3 sat down to enjoy a quiet evening at home, suddenly our baby began convulsing and turning blue in his father’s arms. We called 911 and he was rushed to the local children’s hospital. We were told it was a febrile seizure and would likely never happen again. Three days later we found ourselves back in an ambulance with our seizing baby boy, this time admitted to the hospital. Over the next few months, he suffered continued seizures, hospitalizations, a spinal tap, MRI, several EEGs, and countless blood tests as we fought to uncover what was happening to our baby. Shortly after his first birthday he was admitted to the pediatric ICU as his seizures spiraled out of control, in response to the addition of a 2nd antiepileptic drug. Less than 2 months later we received the results of his genetic testing, and learned he has a non-inherited mutation in his SCN1A gene. We also learned that the medication that sent him to the PICU a few months prior can worsen seizures in individuals with SCN1A mutations, and that there is a list of other medications we would need to avoid.
It would take several more months for him to receive the official diagnosis of Dravet syndrome. In the beginning his development was on track, but as time went on his delays became more evident. The seizures and health concerns continued a steady course as well. When he was 18 months old, he suffered a code blue and was admitted to the PICU from a simple case of croup. We realized then that any seemingly minor illness could cause him to go from sick to critical in the blink of any eye.
To date, Shayne has failed most of the available treatments for Dravet syndrome. He has participated in 2 separate clinical drug trials, has attempted diet therapy, Vagus Nerve Stimulation (VNS), and countless other outside the box treatments. Despite our best efforts, he continues to have seizures every single night in his sleep. Though he experiences numerous other seizure triggers such as over-excitement, overheating, illness, and water, sleep continues to be his most pervasive enemy. Imagine a life where you are awoken from sleep multiple times every night by convulsive seizures, and sometimes wake up in the hospital because that night the seizures would not stop.
In addition to severely intractable Epilepsy, Shayne has also been diagnosed with Autism, Intellectual Disability, Cerebral Palsy, and other conditions that impact his overall health. Dravet syndrome affects every aspect of his life. Despite the challenges he faces, he continues to find joy in each day. His favorite activities include playing with his younger sister Taylor, snuggling with his 2 service dogs Bridget and Portia, visiting Disneyland, Legoland, the Zoo, and spending time with family and friends. He loves to line up his superhero figurines all over our house. He loves to dance to his favorite songs, and he is extremely social and loves saying hello to everyone. He shows us daily what really matters in life, and to appreciate the little things that most people take for granted. He has been through more in his 11 years than some will experience in a lifetime. Though we have yet to find a treatment that has a sustained lasting impact for him, we will not give up hope. Each new treatment option that becomes available is a chance for improvement for him; we will never stop fighting for our sweet Shayne.
