My grandson asked how he ended up with the gene and his mother told him that it mutated. He said, "Great, I'm a mutant!" and he's thrilled. Go figure! Must be watching those turtles or something.
He has CCHS if anyone is familiar with it. It is very rare. When he was born there were about 50 cases in the US. Very few doctors are familiar with it so he travels almost 5 hours to a doctor.
I'm not really sure what to say but I wish you well and will say a prayer for your family