Here is a video about a rare disorder called NGLY 1 deficiency which is an ultra rare disease and from that point shares so many of the obstacles that we face with AHC.
Also one of the persons that discovered the disorder is David Goldstein that is on the team from Duke University that discovered the mutated gene which causes Alternating Hemiplegia of Childhood.
More on NGLY1 at the Grace Wilsey Foundation