When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency. We brought it up to the pediatrician and were told not to worry, she was fine, that it was just “her nervous system working out its kinks”. That was the first of countless misdiagnoses.
Over the first few years I was told that I was just a new mom, looking for things that could be wrong with my baby. I was told that her head drops were just her being shy possibly paired with a stutter. It wasn’t until she was 5 that we finally got a referral to a neurologist and found out she was having near constant seizures. That neurologist ordered an MRI where she was diagnosed with type 1 Chiari Malformation. We thought that was our answer, the cause of her endless list of conditions.
It took some time, but once her seizures were under control it was like she was a different child. She could talk to us more clearly and told us how different she felt. She was nearly 2 years seizure free, but her problems persisted. In addition to seizure breakthroughs and GI issues, she wasn’t growing. Her doctors called her medically complex, but through it all Savannah had such a great attitude. She went from being terrified of doctors, to understanding this was just how things were for her. She isn’t a “Why me?” type of girl. Savannah is most definitely a glass half full type of gal. She is eager to learn and wants to make friends, despite the tough time she has doing both.
Savannah has always been a fun, silly and sweet girl. Her mood swings and aggressiveness came later. Along with eyelid fluttering that we couldn’t explain. That’s when her new neurologist ordered the genetic testing. It took a while to get these results, understandably so, given that we were in the middle of a worldwide health pandemic. When we received the results, we were told she had a CHD2 gene abnormality, our emotions were mixed. Surprised, sad, fearful, relieved. After all the years and all of the doctors, we finally had a definite answer. Savannah’s neurologist couldn’t tell us much other than how rare it was, that it happened in utero and that she was referring us to a genetic specialist. She informed us of a Facebook support and research group that she wanted us to join. And thus, began our CHD2 journey.
We’re new to this, but we have hope. Our wish for Savannah is for her to live the life she deserves… a healthy, fulfilling and beautiful life. A cure for CHD2 would undoubtedly contribute to our wish for our girl so we will continue to advocate for awareness and keep up hope for a cure!
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