Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report

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…

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,…

Have you ever had the ultrasound tech stop what she was doing, and say she needed to go get the doctor? Well, I have. And…