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…

My name is Sherri Palackdharry, I have Hypophosphatasia along with two of my daughters, Maya, 16 and Syreeta, 21. Our journey began when Maya was…