Gracie is the baby. She is a fighter who will go toe-to-toe with her siblings and will not put up with anything that she doesn't like. At barely 15 months old, Gracie thinks she rules the roost. She may not talk, but she gets her point across! We call her pterodactyl because her high-pitched squeal. Her personality is full force at home, but whenever we are out in public she is very quiet and reserved. A nurse once called it "Resting Baby Face" and it has been adopted in this house.
While pregnant with Gracie we discovered a growth restriction in her abdomen with unknown causes; this resulted in weekly ultrasounds. Each week she would be in a different position- head down, breech, diagonal, transverse. She finally ended in a breech position when it was time to give birth, which resulted in an unexpected C-section. God was definitely looking down on her because she came out with the umbilical cord wrapped around her neck and problems breathing. If we had tried to do a vaginal birth it would have likely ended in a tragedy. Mercifully, she was able to regulate her breathing quickly and was able to be brought back to our room within an hour of her being rushed to the nursery to be monitored.
Gracie struggled to gain weight after we were released to go home. She was diagnosed with Failure to thrive at 3 weeks. She has been admitted to the hospital 4 times for it. We were able to finally start getting her to gain weight at around 8 months and she has since had that diagnosis removed. We started adding veggie powder to her special formula that already had oatmeal added as a thickener. Gracie struggled with swallowing along with really bad reflux. She had to have a specific style of bottle - Nuk anti-colic with the Y nipple.
Besides her weight, Gracie struggles with Hypotonia (low muscle tone), Poor balance, Global Developmental Delay, and Febrile seizures. We decided to do genetic testing to see if these issues were related. She has been diagnosed with 15q11.2 BP1-BP2 microdeletion (Burnside-Butler syndrome) which is really rare, and also HNRNPC. HNRNPC mutation is so rare that less than 20 people were known to have it at the time of diagnosis. There is barely any documentation and little research about this condition. This is why I decided to start my blog. I needed to bring awareness to it and to put a face to the condition.
Currently, Gracie sees a physical therapist, occupational therapist, and a developmental therapist. As soon as a speech therapist is available, I am sure she will be starting that as well. She has a regular primary pediatrician, a developmental pediatrician, gastroenterologist, a genetic counselor, and a neurologist. This girl has more doctors than I do! God has big things in store for her, in that I am sure.
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