For the Ayscue family, their journey began with fear and uncertainty. “I had a typical pregnancy with Branson,” their mom explained. “But when he was born, he was very lethargic and not able to take much from a bottle.” At just 3 days old, Branson was transferred from their local hospital to a children’s hospital, where he was diagnosed with nonketotic hyperglycinemia, or NKH. The family was told not to expect him to survive infancy. Months later, on the way to the emergency room once again, they decided to try Wolfson Children’s Hospital with its long-standing collaboration with Nemours Children’s Health in Jacksonville, Florida instead. “That day completely changed our lives,” she said. The neurologist on call, Dr Rappoport, had just seen another patient with NKH. “We could not believe a doctor so close to home had followed a kid with the same diagnosis as ours. We knew then we would be making the switch, and we have never looked back.”
When their daughter, Charlotte, was diagnosed with NKH before birth, the family already knew where they would go for care. Today, both children receive treatment from Nemours Children’s specialists in neurology, pulmonology, ENT, and GI working at Wolfson. Their care plans include the ketogenic diet, sodium benzoate, dextromethorphan, and several antiseizure medications. Branson also receives vimpat and epidiolex, while Charlotte takes clonazepam and phenobarbital. The changes have been remarkable. “We started the ketogenic diet in April and May, and since then our kids are more alert than ever and seeing more seizure freedom than ever,” their mom shared.
For Branson, the progress has been life changing. “He often goes weeks without seizures. Years ago, it was not uncommon for him to have more than 50 a day.” Charlotte is seeing the same progress. “She is at three and a half weeks with no seizures. Before keto, she had five to seven seizures every day.” Their improved quality of life has brought new hope to the entire family.
Through every visit and every challenge, Nemours Children’s has become a second home. “Nemours Children’s truly feels like an extension of home to us,” their mom said. “Not only because we are there so often but because everyone treats you like family. Most people know us by name, and that alone means so much to us. We are always met with compassion and support.”
For other families walking a similar path, she offers one piece of advice, “Find community. It may take time, but it is worth it. Having friends you don’t have to explain everything to-who just get it because they’re living a similar life-makes all the difference.”
