My two-year old son Carter, was diagnosed in May 2011 with a rare genetic disorder called Opitz G/BBB syndrome with MID1 mutations. Opitz G/BBB syndrome is related to chromosome 22. Mutations in the MID1 gene cause Opitz G/BBB syndrome. The MID1 gene provides instructions for making a protein called midin. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.
The doctors we see at our children’s hospital do not know much about his disorder and there is not much information on it. My son is a very outgoing little boy but struggles with immune issues and is sick a lot. Carter also has developmental delays, sensory issues and feeding issues that require him to have a feeding tube for extra calories.
Finding out he has a rare syndrome that there is not much information on has been a struggle for us as a family, but I will not give up hope for my son. I have done most of the research for this syndrome on my own, even when our doctors have said he was “fine.”
I am his only advocate for Opitz GBBB and I refuse to take a “just wait and see” position that our doctors all choose to take.