English
0
New Jersey, USA
28 years old
March 30, 2022

Ashlee

Ashlee was born April 17, 1993. Other than an issue with her bilirubin, her birth was normal.  She went home to live with her Mother, Father, and 2 sisters. All was normal until about 18 months. We noticed her language skills had stopped. Shortly after that she began to have seizures.  Myoclonic, drop seizures, absence seizures. All medications made her zombie like. She was diagnosed with developmental delays, seizure disorder, language disorders, mild cerebral palsy.

With no other options, Ashlee was prescribed a keto-genic diet administered by the neurological department at Children’s Hospital of Philadelphia.  Her doctor, Christina Bergqvist, was conducting a study of the diet and Ashlee was her 2nd case.  Within 2 weeks Ashlee’s seizures dropped from over 100 a day to almost zero. A totally different child emerged. She's still struggling with language but she was able to start learning. I think we finally got her potty trained when she was nine. Although she still has some problems with that. She has remained on the diet for about 20 years.

She attended school and graduated from the Atlantic County Special Services school district in 2014.  She has many activities including South Jersey Field of Dreams baseball and their winter basketball league.  She performed gymnastics in the New Jersey Special Olympics.  She is currently enrolled in martial arts, specifically Do Tang So.  She works full time at the All About Community Farm, where she tends to the animals and other farm related chores.

Despite all of this, there has always been the lingering question – Why?  CHOP asked if we would participate in a genetic study, free of charge.  We agreed, and after a few months it was revealed that Ashlee had a mutation on the SYNGAP1 gene.  The symptoms of the mutation fit Ashlee to a tee. his time we got a SynGap1 diagnosis. Which was absolutely amazing to us because now we finally had an answer to everything. Ashlee has always been a happy person for the most part. She is stubborn and headstrong. She has her obsessions such as WWE Wrestling and anything to do with Disney's Frozen, two very opposite ends of the spectrum.  She makes friends easily and loves to be around people.

We Need Your Help

We can use your help to raise awareness about SynGAP1.

© Copyright  2018-2022 Syngap Research Fund  | All Rights Reserved | 
Privacy Policy
RegistryNewsletter
0