LITTLE SEIZURES
Meet James Presley
Born January 20th, 2009
James Presley Plumlee was born on inauguration day, January 20, 2009. We knew from the start this boy was special. "JP" suffered from his first febrile seizure at 4 months old after a raging ear infection. 2 weeks later he had another and then came "the jerksies." Myclonic jerks mimicked the startle reflex so much that it was hard to tell if his dad and I were seeing things or if something was wrong with our baby. After a few trips to the ER and a few more trips to our pediatrician, we were refereed to a neurologist. He thankfully insisted on genetic testing to see what the cause of the seizures were. JP went on several different meds and even the ketogenic diet in the meantime. The test results showed an SCN1A mutation. Great! We found a cause for the seizures but what does that even mean? In 2010, JP was diagnosed with Dravet Syndrome, a catastrophic form of epilepsy linked to the SCN1A mutation. Our hearts sank. We had read about dravet and we feared it. No one knew what to expect or how to deal with any of this. Through the support of The Dravet Foundation and other support groups like The Epilepsy Foundation we found our way. JP is on a fantastic medicine that we import from France and he receives PT, OT, and Speech Therapy through Vanderbilt Pediatric Rehab. He is a happy and loving little man who has his whole future ahead of him. There are a few snags here and there, but we are learning and managing. JP may not be able to have the life we had hoped for him but it's his and we make the best of it.
He Loves:
The song, “Twinkle Twinkle Little Star”
Fruit Snacks
His Poodle, Roxy
His Kitty, Ellie
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy. Initial seizures are most often prolonged events and in the second year of life other seizure types begin to emerge. Development remains on track initially, with plateaus and a progressive decline typically beginning in the second year of life. Individuals with Dravet syndrome face a higher incidence of SUDEP (sudden unexplained death in epilepsy) and have associated conditions, which also need to be properly treated and managed. These conditions include:
behavioral and developmental delays
movement and balance issues
orthopedic conditions
delayed language and speech issues
growth and nutrition issues
sleeping difficulties
chronic infections
sensory integration disorders
disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating)
Children with Dravet syndrome do not outgrow this condition and it affects every aspect of their daily lives.
Unless a cure or better treatments for Dravet syndrome and related epilepsies are found, individuals with these disorders face a diminished quality of life. Current treatment options are extremely limited and the prognosis for these children is poor. The constant care and supervision of an individual with such highly specialized needs is emotionally and financially draining on the family members who care for these individuals.
WHAT IS DRAVET SYNDROME
ABOUT DRAVET SYNDROME
