Kara’s Journey with her Daughter

My daughter was only 2 years old when she lost her first tooth. At first my husband and I thought maybe she had an old injury from daycare that we didn’t notice. But then only about a month later she lost another one. The first pediatric dentist we saw attributed it to an injury. But when we did follow up X-rays, there seemed to be more bone loss around other baby teeth.

We then sought a second opinion with a different pediatric dentist who gave us the short list of the differential diagnoses. On that list was HPP. We followed up with our pediatrician who initially ordered some basic blood work. That blood work revealed a very level of alkaline phosphatase. She subsequently referred us to a specialist at Children’s Hospital of Philadelphia.

Our doctor at CHOP is a specialist in metabolic disorders. Our first visit with him essentially confirmed the diagnosis. He order some additional testing as well as genetic testing for HPP.

By this time I had discovered Soft Bones. I saw the very different presentation of the same disease. We have been lucky as a family. Our daughter who is now 7 years old has lost a total of 8 baby teeth. But she hasn’t had any bone breaks. She tires easily but is able to participate in dance, Girl Scouts, and other activities.

We have encouraged her to participate in activities that she enjoys. We haven’t felt obligated to restrict her at this time. Our doctors have not felt that she should start treatment, but this could change at any time.

My concern for my daughter is the varying presentation of HPP. We aren’t entirely sure what the future holds for her. We are so very happy to have the support that Soft Bones provides. It has been wonderful to learn about this rare disease from patients along with specialists.