Patient of the Month- Mason P.
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After many friends and family commented “his run is so cute”, we looked closer at the way Mason ran. He had a lack of bend in his knees when jumping and running. We brought up the concern at his 3 year-old check-up. His pediatrician ordered X-rays to be done, before wanting him to start in physical therapy. The results of his X-rays showed lucencies or bone demineralization in multiple areas on his legs. His pediatrician consulted with radiologists and physicians at Children’s Hospital. While other diagnoses (infection, malnutrition) could be a cause, those seemed less likely. His lab work revealed low ALP levels. Based on the lab and x-rays, we were presented with the possibility of a diagnosis of hypophosphatasia, and were referred to the Genetics Clinic at Children’s Hospital.
Once we learned more about hypophosphatasia, the pieces of the puzzle started coming together. By the age of 2, Mason lost his first baby tooth. It came as a surprise when it fell out but realized a week prior a toy hit him in the mouth and likely knocked it loose. A few weeks after that, Mason fell on his face and the other 3 front teeth came out. In addition, he would frequently complain of being tired and his legs hurting in which we thought he just wanted to be carried.
A couple months later we received the diagnosis of hypophosphatasia, after learning Mason carried two genes (one from mom and one from dad). Mason had several symptoms of HPP, along with the classic labs of low ALP, high vit b6, high PEA urine, and 2 sets of genes. Mason was started on Strensiq just a month later. Mason started showing improvement while walking, running and jumping within 2 months of starting the medication. That is nowhere near the progress he has made just 6 months later. We are so thankful for Mason’s pediatrician at Ascension Wisconsin that listened to our concerns and sought additional knowledge to help get us the answers. We are so thankful for the Genetics Team at Children’s Hospital and their familiarity with hypophosphatasia; and got Mason the treatment he needed quickly.
Mason says his hero is “The Hulk” which is fitting because we tell him he is becoming stronger with the medication, like “The Hulk”.
Mason is part of the Hippo Squad. The Soft Bones Organization is a wealth of knowledge for patients, families and physicians. We are so thankful to have an organization that provides us with such connections and expertise.
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