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

For years, Katielee Street, a community nurse, struggled to find a diagnosis for her daughter Harper, who was born with recurrent chest infections and a runny nose. At four-months-old, Harper's health problems worsened, causing her to vomit milk through her nose after feeding. By the age of three, Harper has been diagnosed with DiGeorge syndrome, also known as 22q11.2 deletion syndrome, which is a genetic condition caused by a small missing piece of chromosome 22.

The condition affects many parts of the body and symptoms vary widely from person to person. Common problems include kidney issues, low calcium levels, differences in the roof of the mouth, and conditions such as ADHD or autism spectrum disorder. Harper's health challenges have continued since her early months, and she continues to face difficulties walking, eating, and drinking.

Street, feeling heartbroken and shocked, researched DiGeorge syndrome and was convinced that it was the correct diagnosis. After raising her concerns with specialists, who initially did not recognize the facial features associated with the condition, Harper underwent genetic testing, which confirmed the diagnosis in August 2026.

With the official diagnosis finally in hand, Street is anxious for Harper's future, particularly regarding potential heart defects linked to the syndrome. Street hopes that sharing Harper's story will encourage other parents to advocate for their children and never give up in seeking answers.