Skylea

Skylea was born on Feb 24, 2017. Things seemed normal until she was 3 months old. She would spit up constantly and wasn't gaining much weight. Around 6 months, she started missing milestones, couldn't hold her head up, absolutely hated being on her stomach, was not sleeping, and she started to sound like she was having a hard time breathing. We took her to see her doctor to discuss her issues and we were told she would grow out of them.

 

I knew something wasn't right. When Skylea was 9 months old, I got in contact with early intervention, as my son had gone through the same program when he was little. After our first meeting they saw what I had been seeing and referred us to a doctor who they work closely with. Two weeks later, we got our referrals. After seeing many specialists, the doctors decided she had cerebral palsy. All her tests came back normal like her blood work, MRI, X-rays, but her EEG showed she was having small seizures. At the age of 2, they decided to do a massive genetics test called Whole Exome Sequencing.

 

We finally got her results back 3 months ago. She has been diagnosed with GRIN2D. We were shocked, but it all fell into place. It explained everything she was going through. Skylea has been getting many services including PT, OT,feeding,and vision therapy since she was 9 months old. She is a very happy girl even with all the struggles.

 

Skylea can not communicate to tell us what she is feeling or what she wants. Although she can say 5 words, she can not use them when needed. She has fluctuating tone, so she can not sit up, stand or bare weight on her hands. She is still struggling with holding her head up for more than a couple of minutes. She has had one surgery to remove a piece of the skin in her throat so her breathing wasn't so loud. She struggles with feeding and will be getting a g-tube soon. We are still trying to get her seizures under control. Skylea is a fighter and very motivated! She loves going for rides in the car, being outside and watching her favorite movie, Norm Of The North.