1q42.13q42.3 Deletion: Emma

Emma

"Emma has a rare genetic disorder called 1q42.13q42.3 Deletion. She is missing a chromosome sequence in chromosome 1. It isn't widely known about and has less than 100 confirmed diagnoses worldwide. Emma was born on time and at a healthy weight but had trouble maintaining and was losing too much. She was hospitalized at a month old for "failure to thrive". We were there for 2 weeks but luckily she pulled through. I noticed things about her that seemed off. She was a very quiet baby and wasn't hitting any of the normal developmental milestones. Over the next 3 years, she had many appointments with quite a few different doctors trying to figure out what was wrong. She was diagnosed as hypotonic and didn't sit up until 14 months old and didn't walk until almost 2. Since she wasn't diagnosed with a reason, she didn't qualify for any type of therapy they said. We did exercises and such at home to help strengthen her muscles and dexterity. Multiple hearing tests revealed no problems but little did we know, speech delay is part of her disorder. Finally at 3 years old she had a genetics test done and we got a diagnosis. They didn't know much of anything about this disorder, but at least she was diagnosed. She was able to get at IEP in school and into speech therapy. She said her first full sentence around 5-6 years old and it was so exciting! She still has some muscle/dexterity issues, learning delay, Hypothyroidism, and wears glasses due to losing most sight in one eye."

"Despite her obstacles, Emma is a very funny, sarcastic, and fun loving teenage girl. She collects stuffed animals and has names and back stories for all of them! She loves animals and the world. She has multiple National Geographic books full of facts and has memorized a lot of them. If you ever have an odd animal or world question, Emma probably has the answer! Despite not having the most articulate vocabulary, Emma loves to read. Her favorite book series is called Warrior Cats".    

 "Donations to Unique will help families find support and discover more information about rare chromosome disorders."

Donate: https://www.rarechromo.org/donate/

"Don't give up! I believe in you all. A person's a person, no matter how small!" 

 -Dr. Seuss