Isaac’s journey with Nemours Children’s Health began after a long search for answers.
Around his first birthday, his parents noticed that something wasn’t right. “Isaac was extremely nauseated, underweight, and falling behind developmentally,” his mom recalled. After months of uncertainty, genetic testing revealed a rare diagnosis: SYNGAP1, a condition that affects only about 475 people in the U.S. and roughly 1,500 worldwide. SYNGAP1 causes developmental delays, epilepsy, and autism, making even everyday milestones more difficult.
Before coming to Nemours Children’s, Isaac’s seizures were constant and resistant to medication. “His neurologist said it was as if his brain were on fire,” his mom said. “He would just sit and stare off into space most of the day.” At just 3 years old, SYNGAP1 has left Isaac fully disabled, and he is not yet walking or talking. The emotional and physical toll was heavy for his family, who had spent years visiting multiple hospitals and doctors without answers.
That changed when they came to our location in Jacksonville, Florida. Isaac’s mom had deep roots with Nemours Children’s. “We have nothing but nice things to say about the doctors and the quality of treatment we’ve all received here, so I knew they’d be good for my son.” During their very first visit, they met Dr. Fernando Galan. “We were actually scheduled to see a different doctor, but Dr. Galan saw Isaac’s diagnosis and swapped new patients so he could see us. It was our first time seeing a doctor who knew more about my son’s rare condition than I did. I went to the appointment expecting to fight for everything Isaac needed, but everything I came ready to fight for was exactly what Dr. Galan thought we should do. I left crying tears of relief instead of frustration.”
Dr. Galan connected the family with Stephanie Burkhalter, APRN and dietician Brooke Rivas to pursue a ketogenic diet for seizure control. “Brooke’s energy lights up the room,” says Isaac’s mom. “She’s so sweet and caring. I message her constantly with questions, and she always has the answers. It’s clear she cares deeply for her patients, and I cannot thank her enough.”
Together, the Nemours Children’s team developed a care plan involving seizure medication, dietary therapy plus physical, occupational, speech, and behavioral therapies. “I am continually blown away by how knowledgeable and kind our care team has been. I’ve never felt more seen, heard, and considered when discussing my son’s rare condition and his care.”
Today, Isaac’s seizures are better managed, and his family finally feels supported. “For the first time, I love our doctors and their teams. Doctor’s appointments are no longer a looming source of anxiety and frustration, and my son is finally thriving.” Isaac’s mom remains hopeful about the future. “There are some very promising treatments for SYNGAP1 on the horizon. Over the next five years, I plan to keep up with our care and raise as much awareness as I can.”
Her advice to other parents navigating rare diagnoses comes from the heart: “Find a village. When I learned Isaac was ‘1 of 475,’ I felt so alone. Joining a SYNGAP1 Facebook group and volunteering with CURE SYNGAP1 gave me friends who truly understand. Being a parent caregiver is incredibly hard. Lean on family and friends, take care of yourself, and know that part of caring for your child means caring for you too. Embrace the small wins.”
