First Post

This is my first post to make it known to the world that my daughter has rigid spine myopathy. She is currently only the 3rd in the world with double mutations on gene SEP-N1.

We have only had this diagnosis for 1 year and 3 months, although we knew she was different since she was 2 months old. We have also known she is AMAZING since birth. We will not let this diagnosis define who she is.

We also would never have had this diagnosis unless we had fought for our daughter. We asked  multiple specialists at multiple hospitals until we had an answer for her. There are, I'm sure, many more children out there who are undiagnosed because parents settle for what their doctors tell them...that "there is no answer," or that they should "wait and see." I am not a wait and see kind of person. And God knew that when He gave us our sweet, strong, rare daughter. 

We are thankful for her. We are lucky to be her parents.