Originally posted on Tiny and Fierce: Living with Bohring-Opitz Syndrome:
Hazel – Newborn After we received our diagnosis of a rare disorder called Bohring-Opitz Syndrome, I wanted to know how we could help others receive an accurate diagnosis faster and more easily than we did. A few months before Hazel’s diagnosis, I learned about a…

29 February 2016 marks the ninth international Rare Disease Day coordinated by EURORDIS. This year the theme is Patient Voice – Join us in making the voice of rare diseases heard.  Bohring-Opitz Syndrome (BOS) is a rare disease and we want to invite you to learn more about BOS, so please feel free to visit our Facebook…

Originally posted on Tiny and Fierce: Living with Bohring-Opitz Syndrome:
My daughter was diagnosed with Bohring-Opitz Syndrome (BOS) on May 9, 2015. She was 20 months old at that time. We knew about a week in advance that whole exome sequencing showed a mutation, and the genetic counselor wanted us to come in at the…