This morning I spent quite a bit of time on the phone with a research assistant to a geneticist out of Columbia University who is trying to gather information about presentations of Kif1A mutations, what families found to be beneficial with the intent of sharing all the information (without identyfing info) collected among the participants.
Danny is a rare bird.
As far as I can tell, there are less than 75 folks world wide with this particular condition. And none of us are exactly the same.
When d was little I was dismissed by multiple medical professionals. That we were searching for an underlying medical condition that existed only in my mind.
Science is finally starting to catch up.
Today I spent just about two hours discussing Danny’s presentations, what worked, what didn’t with someone with lots of initials behind their name who was genuinely interested in ds journey …all with the intent to help the next kid like Danny medically
Because there will be more.