MINNEAPOLIS (WCCO) — When your child is sick, your hope is for a quick diagnosis. But for this week’s Kylie’s Kid, Roya, getting answers took a long time.
For doctors at Children’s Hospitals and Clinics of Minnesota, it was about connecting the dots to find a somewhat uncommon diagnosis.
Roya is a four-year old who absolutely loves to play.
“She runs up to every child on the playground and says, ‘Will you be my friend,’” Amy Kebriaei, Roya’s mother, said. “And as soon as they say ‘Yes,’ she’ll say, ‘Will you be my best friend?’”
But when Roya was a baby, her mom noticed something wasn’t right.
“It was sort of one of those mother’s instinct,” Amy Kebiaei said. “She wasn’t reaching milestones, she was just really floppy.”
After consulting with doctor after doctor, they still couldn’t find out what was going on.
“It was scary before you get the diagnosis, because they discuss things that are life threatening,” said Amy.
For Roya, it was about connecting several different problems.
“Roya has some pretty significant GI Issues, she has a heart defect,” Amy Kebriaei said.
Finally, a neurologist recommended chromosomal testing. They learned she has what’s called 22Q, a defect in the 22nd chromosome.
“It’s actually the second most common chromosome abnormality behind Down syndrome,” Amy Kebriaei said.
Because it’s a chromosomal disorder, there can be 180 different manifestations. It affects all systems in the body.
“They can be anything from very life threatening heart defects, calcium issues, endocrine issues to things that are more mild,” Amy Kebriaei said.
Roya sees eight different specialists on a regular basis. She also spends three days a week at speech, physical and occupational therapy.
“That’s one of the things that’s overwhelming sometimes, just keeping an eye on all the different facets of it,” Amy Kebriaei said.
Roya and her mother now help spread awareness. Every May, they take part in 22Q at the Minnesota Zoo.
“A lot of these children may not know someone else with 22Q,” said Amy. “So for them to see that there’s maybe another child like me, who has speech issues or maybe learning issues like me. You see a light come on in them. They kind of get each other.”