The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

In December of 2016 our eleven year old son was diagnosed with Hypophosphatasia (HPP). I could not even say the name correctly at first, let…

My name is Sara and I have Hypophosphatasia (HPP). I am an individual with a rare disease, a fiancé and mother to two toddlers, a…

At fifteen weeks pregnant my husband and I decided to have an elective ultrasound performed for gender confirmation at our local OB/GYN office in Jamestown,…

When I found out I was pregnant, the thought of my innocent little baby having an ultra-rare disease never crossed my mind. I was asking myself questions like “Is it going to be a boy or a girl?”, “Am I going to be a good mother?”, “What am I going to name him/her?”. Then during …