Blakelee

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2 years old
North Carolina, USA

Blakelee is 2 years old and lives in North Carolina. She was diagnosed in October of 2022. The first signs we noticed were around six months which is when we thought she should be trying to sit up. She seemed very “floppy”. We found ourselves having to support her upper body when we were holding her or she would just fall back. Along with that , she was getting choked every time we offered her any solid food. By nine months it was evident something was wrong. She was missing all the milestones and still wasn’t able to sit up.

We started PT in December of 2021 and OT in January of 2022. Everyone quickly realized that she wasn’t “just behind “and we were referred to the Neurologist in March of 2022. She had a MRI and some blood work that all came back normal. Thankfully the neurologist pushed for genetic testing to find some answers and see what we were dealing with. Testing was done in August and by October we got the diagnosis, SYNGAP1. Blakelee started pulling up around 18 months and crawling at 20 months. She is non verbal at this time so we are currently in speech therapy. Blakelee doesn’t have an epilepsy or autism diagnosis but will be evaluated for both very soon. She struggles with fine and gross motor delays,walking and communication skills. Some weeks she will sleep pretty good but other weeks she will be up 2-3 hours every other night.

One thing I have seen in my little red headed girl is that she has fire and fights hard for everything in life. Blakelee is infatuated by the water so she loves bath time and swimming. She also loves her big brother, being outside, swinging and music. Her favorite thing to do right now is to watch her self in the mirror. Blakelee is bright and full of life. We hope one day life will become easier for her. We have just started this journey and it’s not been easy. We know God is faithful and in control. We are hopeful for what the future holds for us and other Syngapians.