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Like most 9-year-olds, Amirah Johnson loves to run and play. She just finished third grade at Steckel Elementary School in Whitehall, Pa. She also loves to cheer for her uncle, Saquon Barkley, while watching him play football for the New York Giants on television. Amirah is a happy child who spends most of every day wearing a smile.
Amirah’s adversities
Amirah’s upbeat nature belies health struggles she’s endured since infancy. The day after she was born, Amirah needed to be hospitalized in the neonatal intensive care unit at Lehigh Valley Hospital–Cedar Crest for breathing problems caused by an elevated diaphragm (the muscle between the chest and the abdomen). When she was 6 months old, Amirah’s family noticed she wasn’t using her left arm and was struggling to sit up on her own. She received early intervention physical therapy to help.
At age 2, Amirah first showed signs of scoliosis, for which she eventually needed rod-placement surgery to straighten her spine. Around the same age, she developed asthma-like symptoms that would eventually affect her speech. This resulted in palate surgery as well as intensive speech therapy.
‘It was one thing after another,” says Katrina Krasenics, Amirah’s mother. “Finally around age 5, one of her specialists recommended genetic testing.”
Diagnosis: 22q
Genetic tests indicated Amirah had 22q11.2 deletion syndrome, also known as DiGeorge syndrome or simply 22q. It’s a congenital disorder caused by the deletion of a segment of chromosome 22, one of 23 pairs of chromosomes found in human cells. The disorder can impact several systems around the body.
“It can affect your mind, your breathing, your heart and your digestive system,” Krasenics says. “It can cause developmental delays, kidney problems, rheumatoid arthritis, repeated infections – there’s really no telling where it might impact next. We’re fortunate to have a lot of people helping us.”
Uncle Saquon’s advocacy
That includes Barkley, who took part in a 5K run for 22q awareness while he was an All-American at Penn State. When the National Football League chose the running back to take part in its “My Cause, My Cleats” initiative during his rookie year, Barkley had his cleats designed bearing Amirah’s picture and the logo of the International 22q11.2 Foundation.
“This condition is more common than most people realize,” says Yvette Janvier, MD, developmental and behavioral pediatrician with Lehigh Valley Reilly Children’s Hospital. “Many children in our region have chromosomal abnormalities. With today’s technological advancements and the accessibility of genetic testing, we’re finding these disorders and working to address them much more quickly.”
