The story of Stevie
Stevie: My Girl.
Coming up with the words to describe our perfect, one in a million+ daughter is impossible. I have written out these words and deleted them so many times. In order for you to understand where we are now, I think its best I start from the beginning. It won’t be perfect but here it goes…
Since Stevie was about 2 months old, my mommy heart knew there was something different about her. I did what everyone else does but tells you not to do, compare. I compared her to other babies her age, her brother when he was her age. At around 5 months, we noticed the flattening in the back of her head. We started with physical and speech therapy where we learned she had torticollis and hypotonia (low muscle tone). We were then referred to a surgeon for a CT scan of her skull to make sure no bones were prematurely fused together. After two CT scans, we learned she just had plagiocephaly and just needed a cute little helmet. During this time, she was still having trouble meeting milestones, and at 8 months old she was referred to genetics at Texas Children’s for further testing. They looked for any genetic markers and told us they weren’t concerned, to keep up with therapies and to come back around a year old if we were still concerned. At 11 months, we went back. They said they were going to do a full chromosome screen, which is just a swab in the mouth. Time went on and I kind of forgot about the chromosome test. January 26th 2022, I was at lunch with a friend and got a call from the geneticist.
Stevie was diagnosed with a duplication of her chromosome region 16q11.2-q21. There are less than 10 known cases in the world, so as you can imagine, finding information has been super challenging. Through social media I have been able to connect with 3 other moms who have a child with Stevie’s same diagnosis which has been amazing. These past 5 months have been a whirlwind of emotions. We could not have gotten through this without the love and support from our family and friends.
Since receiving a diagnosis, we have hit the ground running! Because it took me a while to have the courage to share this, there is a ton to catch everyone up on! STAY TUNED!
Stevie is making amazing progress in her own special way but she is the happiest most loving little girl there is! Our Stevie B is a living unicorn and I can’t wait to share how truly amazing she is with all of you!