Claire is a loving 7-year-old who lives life to the fullest every day. She loves to swim, sing, dance, do gymnastics, swing, play with dolls, dress up, and go to the beach. You can often find her playing salon, offering to do make-up and nails for anyone who will sit for her! She loves school and will start a conversation with everyone she meets.
Claire had her first seizure when she was 5 months old. When her second seizure occurred just a few weeks later, we started seeing a neurologist at Children’s Hospital of Philadelphia who prescribed antiepileptic medications. In the following months, she continued to have more seizures, worsening and lengthening over time. Some seizures lasted up to 45 minutes. Prescription rescue medications were not enough to stop the seizures. Inevitably, she would need an ambulance ride to the hospital to receive additional medications to stop the seizures, followed by a long recovery period. At around 1 year of age, after exploring possible causes for her seizures including genetic testing, Claire was diagnosed with Dravet syndrome, an uninherited gene mutation on the SCN1A gene.
While a diagnosis of Dravet syndrome is devasting, knowing the cause of the seizures gave our family hope to be able to work toward seizure control. We feel very fortunate to have found the amazing team of medical professionals at CHOP who have helped Claire gained some seizure control through the combination of multiple antiepileptic medications and the medically prescribed ketogenic diet, which she began at age 22 months. Claire encounters some delays and cognitive impairment due to Dravet syndrome, but works extremely hard in school, OT, and speech therapy. Her teacher said she is “one of the brightest lights” in her class, and always comes in with a smile.
Claire does not let daily medications and a restrictive diet get in the way of living her best life. She finds joy in the smallest things and most unexpected places. Our family continues to hope and pray for a cure for Dravet syndrome, and to be free of seizures, daily medications, and restrictive diets.
