My friend gave birth to a beautiful baby boy in May of 2012. This strong mom and adorable son have traveled a long and emotional road since then. After celebrating his first birthday, he was finally diagnosed with a very rare mitochondrial disorder of the
GFM1.
According to her doctors, there are only 5 other known cases. In those cases, the children
didn't live past 2 to 3 years of age, but they had other complications. My
friend's son thankfully does NOT have any severe complications... so far.
I am
posting this to see if anyone knows anything at all related to this, or
if anyone who is educated in genetics may be able to offer additional information.
Please let me know if you have knowledge of GFM1 disorders that may help my friend and her son during this difficult time. Thank you!