Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology

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…

We are all told to stay away from “Dr. Google”; however, in the case of our son’s diagnosis of Hypophosphatasia (HPP), we were glad that…

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,…