Tell us about yourself and the Dravet patient in your life

At 29, Jake is among the growing group of adults with a diagnosis of Dravet syndrome.  Our family is in the unique position of having almost three decades of experience of life with Dravet, and we share our story with hope that others will understand and recognize the long-term impact of Dravet, especially for those who survive into adulthood.

When did Jake’s seizures begin?

Jake experienced his first seizure at 7 months, and over the next year, we watched his health deteriorate as he was battered by frequent, prolonged seizures and dulled by high doses of medications that weren’t working. We felt scared and helpless, and despite our best efforts and those of his doctors, we had no answers, no diagnosis and no effective treatment. In the 1990s, Dravet was a virtual unknown.

At 17 months, Jake started the ketogenic diet, with near miraculous results. This “honeymoon” lasted two years, and while we remained constantly vigilant, we were relieved and happy to see our son gain back his vibrancy. The day the seizures returned, it was Thanksgiving and Jake’s 3rd birthday. As we have sadly learned many times over, Dravet doesn’t stop for birthdays or holidays. Actually, it doesn’t stop for anything. 

For 10 years, we did our best to balance the constant stress of seizures and hospitalizations with creating a normal life for our family. Those would prove to be the best years for Jake.  He went to school and on family vacations. He could walk and play independently, eat with assistance and use basic language.  He loved watching his brother play sports and playing with his service dog. Life was hard, but we carved out our own version of normalcy. We cherish those memories, and are grateful that Jake was able to experience a happy and meaningful childhood. Looking back, we’re glad we didn’t fully understand the challenges that would lie ahead.

Age 10 was a turning point for Jake, and the start of a long, slow, steady decline.  Over time, Jake has lost the ability to eat, speak and walk independently. He is fully dependent on others for care, requires 24/7 supervision and functions at a toddler level. In adulthood, his health is impacted by all the comorbidities that develop over time with rare disease – more than ever, we see that Dravet is not just about seizures. It impacts Jake in every imaginable way. With each year, we recognize the profound toll that Dravet has taken on Jake and we are painfully aware of increasingly fragile and vulnerable he is.
We live every day with his life in our hands.  

Jake lives at home full-time. An amazing team of nurses, caregivers, teachers and therapists helps care for him and keep him engaged. Jake looks forward to their visits, and particularly enjoys music therapy. He also loves spending time with family, being outside and rides on his adaptive bike. We are so grateful for the people in Jake’s life who support him and help us give Jake a meaningful and happy life. 

What is your family’s hope for your future? For the Dravet community?

Jake is a cherished son, brother, grandson, cousin and nephew. He is our greatest teacher and biggest inspiration. Our goals of care for Jake are simple – that he feels safe, comfortable, happy and loved.  These goals guide us in our approach to Jake’s care and are factored into every decision we make on his behalf as we continue to navigate progression of disease and adulthood with Dravet. 

We are encouraged and grateful to see research being done, children being diagnosed earlier, targeted treatments being developed and increasing awareness and support of the Dravet community.  We have great hope for the generation of younger patients who will have access to gene modifying therapies that may change the devastating trajectory of this disease. What a miracle that would be.

What advice do you have for newly diagnosed families?

One day at a time. You will adjust over time and learn to live well with and despite Dravet.