Our daughter Piper was born May 20, 2008. She has a fraternal twin sister, Mimi and a brother, Owen who is 2 ½ years older. Piper and Mimi enjoyed good health from the day they were born. At approximately 4 ½ months, my wife Ashley witnessed Piper’s left arm stiffen and jerk for a few seconds.
On January 1, 2009 Piper had her first tonic clonic seizure while vacationing on a small island in the Bahamas. It was a terrifying experience. We were not sure Piper would survive. The island’s doctor made it to the tiny clinic moments before we arrived. She was alone. She tried to remain calm while mixing powdered valium and trying to set an IV. The seizure was stopped after more than one hour. A plane was summoned from neighboring Nassau, where Piper and Ashley were flown for testing and observation.
Piper was put on Phenobarbital to stabilize her for the long flight home to San Francisco. Soon after, we made our way into the care of UCSF’s, Dr. Joseph Sullivan. As she presented with more tonic clonic seizures, Dr. Sullivan immediately started her on Topamax and urged genetic testing. Soon after we learned Piper’s diagnosis - a de novo SCN1A mutation with a diagnosis of Dravet syndrome.
Dr. Sullivan suggested we consider the Ketogenic diet to further reduce seizure activity. By 18 months of age, Piper was on the diet and it worked. Piper averaged approximately six tonic clonic seizures a year from 18 months to 4 years. She participated in a small pre-school program with her sister. She also had weekly therapy from a therapist who blended speech, occupational and physical therapies.
At close to 4 ½ years of age, the positive effects of the Ketogenic diet began to wane and Piper began having seizures more often. She also started presenting with myoclonic seizures for the first time. Over the next 15 months, Piper suffered over 1,000 tonic clonic seizures with 7 admissions to the ICU. During this period we frantically search for control by trying one medication after another. None of the new medications helped. We also tried artisanal cannabinoid extracts. While this treatment provided no improvement in seizure control, we believe it did offer her some positive help with cognitive functioning, along with mood and sleep. In late January of 2014, Piper started on Epidiolex and went 7 months without a seizure. Since then, she then had an average of one tonic clonic seizure a week. Most lasted approximately 1 to 2 minutes, significantly shorter that the hundreds that preceded her start on Epidiolex, and none have required rescue medication.
Piper is fully engaged with her brother and sister and many friends. She enjoys play dates, loves animals and spends time taking care of our friend’s chickens, horses and her service dog. Since the age of 4, Piper has been participating in equestrian therapy. Piper also enjoys riding her bike to school, bouncing on our trampoline, dancing, singing and her weekly gymnastics class. Piper is an enthusiastic swimmer and can hold her breath the longest of her siblings. Piper is happy, engaged and outgoing. She continues to gain confidence and seeks independence. Most people who meet Piper remark on her positive uplifting spirit and are instantly attracted to her charm, warmth and happy demeanor.
The mission of the Dravet Syndrome Foundation (DSF) is to aggressively raise research funds for Dravet syndrome and related epilepsies; to increase awareness of these catastrophic conditions; and to provide support to affected individuals and families.
Thanks to support from our community, we have awarded over $3.3M in research grants and over $130K in patient assistance grants since our inception in 2009.
Dravet Syndrome Foundation
PO Box 3026
Cherry Hill, NJ 08034
Questions? Email Mary Anne at firstname.lastname@example.org