The Peterson Family
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How old was Charlotte when she was diagnosed? - She was a little over 8 months old. I had been pushing for services/intervention for about two months before her cardiologist suggested genetic labs.
How has 22q changed your life for the better? - 22q has brought an already close family even closer. My husband and I work so we have needed a lot of support from our family. Charlotte has never missed an appointment! It is really humbling to have your family rally around to support you.
What was the biggest challenge during infancy/now? - We aren't too far out of infancy, so I would say our biggest challenge has been trying to manage a number of specialists and amount of therapy, while truly wanting to enjoy Charlotte and make sure she grows up happy. Charlotte has a VSD that we are hoping won't need to be corrected. She has a couple of major issues: low muscle tone and difficulty gaining weight. She is almost 16 months old and still not even crawling. Her low muscle tone also led to constipation due to low gut motility - we had no idea! Once we figured it out, she started gaining weight and had more energy. We are hoping it leads to additional strength for crawling and walking.
What is Charlotte's greatest accomplishment? - Charlotte is learning how to sign and communicate. She picks up a sign every day or two. She even makes up her own! She has no problem telling you what she wants and what she doesn't want!
What one thing do you need from the 22q community and/or our foundation? - I think the most important thing is to continue to get the word out and to educate more doctors. I had a doctor tell me she'd only heard of 22q in medical school and had never seen a child with it. As a parent with a 22qt you have to become an expert in 22q and often need to educate the doctors. If my pediatrician had been more familiar with 22q, I truly believe she could have been diagnosed much earlier.
What is one thing you enjoy about being part of the 22q community? - Everyone is so supportive! We all share a diagnosis but our children are all uniquely impacted by 22q. If you are going through something like feeding tubes, constipation, open heart surgery, etc., there is another parent who has been there and can offer insight/advice.