NATALIERetrun to 22q Stories
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Natalie was a beautiful 6 lbs. 7 oz. baby girl born in April of 2001. She had a few “choking” episodes at birth but nothing that sounded any alarms that something was wrong. At 12 weeks old she had her first UTI and after testing it was discovered that she had kidney reflux.
Natalie began taking a low dose antibiotic until 2002 and she was retested. Results showed that Natalie’s reflux repaired on it’s own and thankfully she wouldn’t need surgery. At this time she was 12 months old and we started noticing that she wasn’t talking. About a month after she was weaned from the antibiotics, the ear infections started. Around 14 months it was discovered that she needed tubes.
Natalie started saying some words, but she could not say her pressure constanents. We were worried, but since Natalie had a sister that was 16 months older than her the ENTs said that her problems were the result of her sister talking for her. We believed something more was wrong, but she was healthy and the doctors told us she was fine.
At 3 years old, she started speech through the school system. Our speech teacher just kept telling us that something more was wrong and suggested that we see Dr. Riski in Atlanta. We had to beg to go to Atlanta, but finally Natalie’s ENT told us that we could go even though nothing was “wrong” with her.
Natalie was 4 years old when she finally saw Dr. Riski. He took ONE look at Natalie that day and told us that she had VCFS (Velo-cardio facial syndrome). He wanted to test her for 22q deletion and after that testing was done she did in fact test positive for 22q11.2 deletion. Natalie had the pharyngeal flap procedure when she was 4 and a half years old and it was amazing (after she got used to her new voice) the changes that she made in speech.
Natalie is now 10 years old and she is doing really well. She has learning problems and even though she is in a mainstream class at her school, she goes out to the special ed teacher for Math and Language Arts. She is a sweet girl with a sweet spirit. She is a big helper and she loves to be with her family. She has an older sister that will be 12 in November and she has a little sister that will be 7 in December.
Natalie never had any heart problems or the immunity problems so that is why she fell under the radar. We must raise awareness for 22q deletion for other children that are just like Natalie. Thank you so much Ryan, Jenny and the Dempster Family Foundation for believing in our children and thinking that each and every one of them is important.