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By Lucy Notarantonio
Senior Reporter
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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.
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“I felt heartbroken,” Street, a community nurse, said. “I was also shocked because as I am the one who found out about the condition.
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“She is probably going to be ill for the rest of her life and have issues walking, eating and drinking.
“At this moment in time, I can’t see how she will ever be well.”
What Is DiGeorge Syndrome?
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:
- Heart defects from birth
- A weakened immune system that can lead to frequent infections
- Feeding or speech difficulties
- Hearing loss
- Developmental or learning delays
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.
Harper's Health Problems Began at Four-Months-Old
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The health problems began at four-months-old and have continued ever since.
“We went to the doctors a lot and they said that it’s because she was born via a c-section, and another time they said children can get up to eight infections a year,” Street, from South Wales, U.K., said.
Neither explanation sat right with the mom-of-two, as Harper was “constantly” ill with respiratory and urinary infections.
At 16-months-old, Harper was diagnosed with atelectasis, which is the collapse of a lung or part of a lung, known as a lobe. It happens when the tiny air sacs within the lung, called alveoli, lose air.
Harper was also not hitting developmental milestones. She began crawling at 14 months and her gross motor skills were delayed, although her fine motor skills were not.
She began walking at 22 months old, but today struggles to walk for longer than a few minutes.
A gap was also discovered in the roof of her mouth, which explained why milk was coming through her nose and why she was experiencing feeding problems.
Harper was also diagnosed with hypernasal speech and experiences difficulties eating and swallowing. Street said food can become stuck in her throat and it can take three or four attempts to swallow before it goes down.
She was also tested for cystic fibrosis at 20 months, but the result came back negative, leaving Street to do her own research.
Mom Begins Searching for Answers
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“I came across DiGeorge syndrome, and I just knew that’s what she has,” she told Newsweek. “It would have been too much of a coincidence if she didn’t as all the symptoms matched up.”
Street raised her concerns with specialists but was told Harper did not have the facial features associated with the condition.
Harper later underwent genetic testing, with Street told that the results could take up to a year.
The family finally received the official diagnosis in August 2026.
Holding back tears, Street said: “I am a nurse so I know how stretched hospitals are, but what makes me the most upset is the fact that we wouldn’t have found out if I didn’t research and push for testing.
“I am heartbroken because she is going to have another life compared to children her age.”
What Happens Next for Harper
Harper is currently at a mainstream school, where her teachers have provided cards to help her communicate.
Doctors discovered a heart murmur in October, and she is now waiting for a cardiology appointment.
Street told Newsweek: “I am very anxious for her to be seen by cardiologist as heart defects are linked to the condition.
“Her mobility is poor and I have to carry her a lot or use a pushchair.”
Harper’s parents are also set to undergo genetic testing next year to determine whether the genetic change was inherited or occurred spontaneously.
Street hopes sharing Harper’s story will encourage other parents to continue asking questions when they believe something is wrong.
“I feel sad for the children where their parents have taken answers from a doctor and left it from that,” she said.
“I want other people to see if you keep advocating for your children you will always eventually get answers—if you know something is wrong, just keep fighting for your children.”
Contact Newsweek editors on this story: Sirena Bergman and Paul Donnelley.
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