Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia

They are identical mirror twins who overcame all odds to survive their arrival. Isabella & Julia were born at 35 weeks and 6 days. Brought…

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…

If you would like to make a donation to Soft Bones in honor of Evan, please click the button below! Donate Here My husband Will…

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…