According to Today, Quinn Hoover is an 8-year-old boy who lives in Nebraska. His body doesn’t produce enough alkaline phosphatase enzyme, causing his bones to be extremely “soft.” The condition means he’s at a high risk for fractures and has to be very careful doing normal, everyday activities.
The diagnosis? Hypophosphatasia (HPP).
Quinn’s family didn’t suspect anything was wrong until he started showing signs of developmental delays. He took longer than normal to stand and take his first steps. His head circumference was also large and his skull asymmetrical. More signs came later. He began to experience fevers in his sleep. He had flat feet, weak muscles, and difficulty with articulation.
Then, at 13 months, a tooth fell out. Doctor’s figured he’d hit his mouth and dismissed the issue. But a few months later, three more teeth followed. By age 3, all six bottom teeth were gone.
Doctors suspected metabolic disorders. Quinn was given a blood test which showed that his alkaline phosphatase levels were 10 percent of the normal amount. It was time for genetic testing.
The diagnosis was confirmed as the rare genetic disorder, Hypophosphatasia.
Quinn’s parents, like many rare disease parents, had no idea what their son’s diagnosis meant at first. But the disorder gave clarity to all of Quinn’s seemingly unrelated symptoms. His body couldn’t metabolize the minerals needed to build strong bones due to the missing enzyme.
With an answer to their son’s various issues, treatment began. Quinn was given a gait trainer and a wheelchair in 2015. But despite his need for these movement assistance devices, he’s stayed a very active child and doesn’t use the equipment full time. He plays modified sports and has even participated in a wheelchair sports camp.
He’s also been greatly helped by the medicine Strensiq, a treatment that requires six shots every week. It helps to give his body extra alkaline phosphatase. Quinn’s the first patient in the U.S. who was approved for insurance coverage of the treatment. It has significantly helped his symptoms, even though it’s not a cure for the disorder.