PAK1 - Jewel's Syndrome

Welcome to the PAK1 information website.  Or as I like to call it Jewel's Syndrome. 

I call it Jewel's Syndrome as my daughter Jewel Douse is the first person in world to be diagnosed with this genetic mutation. The root cause of her autism and epilepsy. It is to believe one simple letter substitution could domain mine and wife whole adult life, and of course Jewel and her older sister as well.

Where to do we start?