Our fourth son, Finn, was born on February 19th, 2015. We couldn’t be more excited to add another boy to our family and our older three boys were thrilled to have another member of their “boy squad.”
On July 19th, 2015, at five months old, on the day of christening, Finn woke up from his nap with his left hand held toward his face, twitching just enough for his aunts to call us into the room. As we watched and speculated, Finn’s arm started to shake and soon, he was not responsive. This was Finn’s first seizure that lasted over an hour. At the time, we had no idea what was happening to our son. At Yale-New Haven Children's Hospital, they ran all types of test and found Finn to be HSV meningitis+. But everyone was stumped because this isn’t common in 5-month-olds, typically just newborns infected in the birth canal. We stayed at Yale for three weeks getting an antivirus through a central line every eight hours. As hard as this was, looking back, we made incredible friends with the Yale staff who became our sense of comfort and calm in the near future. When Finn was finally discharged on August 10th, we were told we would probably never see another seizure again and this was truly a fluke.
On October 10th 2015, Columbus Day, as my husband yelled my name in panic; I knew it was another seizure. Finn’s doctors started trileptol and gave us rescue meds. From that day on, Finn had a seizure every 12-13 days like clockwork. Rescue meds were needed every time to stop them. Finally, after spending Thanksgiving at Yale, his doctors finally decided they needed to do genetic testing. They also stopped trileptol (which we now know was making his seizures worse) and started Finn on keppra. They also determined that his initial HSV diagnosis was a false positive. Finn never had the virus. We think they speculated Finn’s ultimate diagnosis at this time but didn’t want to scare us.
We found out Finn was positive for a genetic mutation on his SCN1A gene the first week of February 2016 right before he turned one. Our world fell apart. From here, Finn’s Yale doctors decided we need more than they could offer and sent us to Boston Children’s Hospital as we ended another week-long hospital stay for HMPV that resulted in a 70-minute seizure with intubation and a PICU stay.
At two and a half, after seeing Finn’s development start to slow, his doctors finally diagnosed him with Dravet Syndrome. We have tried a variety of medicines in just as many variations with Dr. Thiele and his new team at Massachusetts General Hospital without much success. We also started Charlotte’s Web CBD in January 2018 that unfortunately didn’t really benefit Finn. Finally, after seizing with every runny nose, right after Finn’s third birthday, we started the ketogenic diet. This gave us our first relief by protecting Finn against illness provoked seizures. It hasn’t been our “magic pill” but we keep at it knowing it has been our best treatment to date. With the tremendous help of other Dravet patients in countless studies, Finn was able to try Epidiolex this past December. We are still trying to manage this new med with his current doses to find a balance.
Although each moment in our lives brings uncertainty with Finn, we find ourselves enjoying each moment as it comes. Finn is able to attend preschool with both special needs and typical peers, he loves a good dance move, and outside is his favorite place to be. Finn finds his greatest joy playing with his brothers, he charms every individual that crosses his path, and his resilience is by far what amazes us most about our son. Finn’s got a killer smile and he uses it to his advantage at his preschool and at home. Although this is not the life we would ever want for our son, he remains our constant inspiration as he continues to amaze us each and every day.
At age 23, Jake is among a smaller but ever-expanding group of older children with a diagnosis of Dravet syndrome. Like most, Jake was an otherwise healthy baby who began having seizures when he was seven months old. The year that followed was crisis driven, with prolonged and frequent seizures, ambulance rides, hospitalizations, testing, and failed medications. We felt scared and helpless watching our baby boy endure seizure after seizure, and despite our best efforts and those of our doctors, we had no answers, no diagnosis and no effective treatment. In the 1990s, Dravet syndrome was a virtual unknown.
At age 17 months, Jake started the ketogenic diet, with near miraculous results. Within days, his seizure activity decreased greatly and within months, he was able to become medication free. This stability lasted for two years, until gradually the seizures started to come back. In 2005, just before he turned 10, Jake was found to have a partial deletion in the SCN1A gene, suggesting a diagnosis of Dravet syndrome. That same week, he was also confirmed as having multiple mitochondrial defects, suggestive of mitochondrial disease. In the words of his neurologist, it was like “being hit by lightning twice.” It wasn’t until 2014, at age 19, that we repeated genetic testing and obtained a firm, documented diagnosis.
For most of his life, Jake has endured hundreds of seizures per year. He has failed numerous anticonvulsants, medications and treatments. We have tried osteopathic, homeopathic and alternative medicine. He remains on the ketogenic diet, still, 22 years after starting it. Since age 10, Jake has suffered a long, slow, steady decline in his health and medical stability. He benefitted from pediatric palliative care comfort care services and therapies for many years, and was under hospice care for two years. Armed with knowledge from DSF, and thanks to our amazing team of progressive physicians, Jake has recently been enrolled in a clinical trial for a new Dravet-specific medication. For the first time in many years, we are seeing some positive results and we have renewed hope for a future with fewer seizures. Research is critical and it’s not too late.
Jake lives at home full-time with his family. An amazing team of caregivers, teachers and therapists helps us to care for him and keep him engaged. He is busy every day, as long as his health allows, and his weekly therapies include massage and music, which are two of his favorites. He enjoys spending time with family, outside play, car rides and, amazingly enough, going to the doctor! They say it takes a village, and in our case, nothing could be more true.
Jake is a cherished son, brother, grandson, cousin and nephew. He is also a fighter, a teacher a survivor, and an inspiration. Dravet syndrome doesn’t just affect one person, it affects the whole family. It is hard to live with. It is unpredictable and relentless. We are so encouraged and grateful to see research being done, children being diagnosed earlier, targeted treatments being developed and ever expanding awareness and support of the Dravet community.
We are honored to give back to DSF, which fills a critical need for Dravet families. We particularly appreciate DSF’s new focus on resources and support for the adult patient population. We’ve come a long way since the earlier years when the best doctors in the country couldn’t give Jake a diagnosis, but there is still so much to be done. Your support of DSF will go a long way to ensure a better future for all of those affected by Dravet.
Our daughter Natasha was born July 12, 2009. She has a fraternal twin sister, Nicole and two brothers, Jonathan who is 17 years old and David who is 14. Nicole and Natasha were born prematurely at 33 weeks but were very healthy, or so we thought. At almost 7 months, on the early hours of February 3, 2010 Natasha woke up with what seemed to be hiccups but unfortunately, it was her first of many seizures to come. We called 911 and she was transported to the emergency department where we were told it was a febrile seizure that might not happen again.
Exactly a month after that she started having myoclonic and complex partial seizures. We saw a neurologist who wasn’t convinced the “episodes” were seizures but eventually put her on her first anti-epileptic medication. She had countless video EEGs that were all normal.
Eventually, the EEGs started to show spikes and genetic testing was ordered. She was diagnosed with Dravet Syndrome at 10 months old. Since then, she has been receiving speech, occupational and physical therapy, and tried many medications and diet.
Natasha has been intubated multiple times and put in an induced coma in the PICU to stop prolonged seizures. She has participated in 3 clinical trials, currently on Fenfluramine that finally controlled her nocturnal clusters of seizures and allowed her (and her family) to sleep again.
Natasha loves her family and her dog Casper. She enjoys school, riding her adaptive bike, going to the playground and swing, coloring, she loves music and books, and she has a passion for Basketball.
Dravet Syndrome Foundation
PO Box 3026
Cherry Hill, NJ 08034