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. 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, School, OT, Speech, and vision therapy.

Skylea cannot 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 has had a lot of health battles but always has a smile on her face with those blue eyes that can just make anyone’s day better. She has been battling aspirating pneumonia for a while now and finally getting the gtube placed 2/22/2024. She also was just diagnosed with Hirschprung’s Disease after years of telling doctors that something is not right with her bowel movements. I found out through this process that it is about finding the right doctors that will listen to our concerns. I am glad we have a great team for her now.

With her long line of medical diagnoses, we have all adjusted to our new normal. She is happy and always in a good mood. Her seizures are finally under control and she is no longer on any type on anticonvulsant.

The side effects were really taking its toll on her and she is just now after a year off of them getting back to how she was before and doing things she was before. We are greatful for everyday we have with her and learning new things everyday.