- Variant: (c1280>A) (p.Ala427Asp)
- Autism, Developmental Delay, Cortical Visual Impairment, Non Verbal, Seizures
Hi, I'm Leah from Bennington, Vermont.
I love music.
I live with my mom (Ashley), Dad (Keith), and dog Brooklyn and my cat Boots Meow. My favorite things are music, books, animals, aquariums, and going to the ocean. I enjoy watching the "Garfield Show, Frozen, Moana, Beat Bugs, and Boss Baby". I like dinosaurs, going to school even though due to the pandemic right now I have to be homeschooled. I enjoy spending time with my family and grandparents.
When I was four months old I began having seizures. It came on suddenly and I spent a good portion of my time in and out of children's hospitals. and doctors appointments. After a great deal of testing and different diagnoses the decision was made to send my DNA to The University of Chicago's Genetic Laboratory. in 2013 I was diagnosed with SCN2A Variant (c1280>A) (p.Ala427Asp). What has come since that day is I have Autism, Developmental Delay, Cortical Visual Impairment, I am non-verbal, I am immunocompromised.
I ride in a pink wheelchair because my legs are not strong enough to support me, only they are to dance in my chair. I am fed through a feeding tube as well. I have many other health and development challenges that are managed with the help of my healthcare team, nurses, hospitals, therapists, and the love and devotion of my amazing family, My mom and dad work so hard to take care of me in everything that they do, like many other parents to children with SCN2A like me do, we are lucky to have the families we do. "I am valuable precious and dear, I am worthy-so's everyone here!" Leah, Ashley, and Keith.