Case of Juvenile Onset Hypophosphatasia Diagnosed in an Adult Patient

My name is Cindy. I was diagnosed with Hypophosphatasia before I was 2yrs old. This was back in the early 1970’s. They didn’t know much…

In the spring of 2020, I was officially diagnosed with Hypophosphatasia through genetic testing. In retrospect, the signs and symptoms have been evident since my…

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 …

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…