Mom Has Hunch About Daughter’s Mystery Illness—Genetic Test Brings Answers

ملخص مفصل
After years seeking answers for her daughter Harper’s mystery illness, a mom finally got a diagnosis by researching it herself.
A woman who spent years fighting for a diagnosis for her daughter finally received answers after suggesting to doctors what she believed was wrong with her.
Katielee Street, 32, told Newsweek that her daughter Harper was an “easy baby,” but at four-months-old, she began suffering from recurrent chest infections and a runny nose. She also started vomiting milk through her nose after feeding.
Now aged three, Harper continues to face health challenges and was diagnosed with DiGeorge syndrome, also known as 22q11.2 deletion syndrome, in August 2026.
“I felt heartbroken,” Street, a community nurse, said. “I was also shocked because as I am the one who found out about the condition.
“She is probably going to be ill for the rest of her life and have issues walking, eating and drinking.
According to Genetic and Rare Diseases (GARD), DiGeorge syndrome is a genetic condition caused by a small missing piece of chromosome 22.
It can affect many parts of the body, and symptoms vary widely from person to person. Some common problems include:
Some people may also experience kidney problems, low calcium levels, differences in the roof of the mouth, or conditions such as ADHD or autism spectrum disorder.
The health problems began at four-months-old and have continued ever since.
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