Generation Rescue’s Science Advisory Board member, Dr. Dan Rossignol, MD, FAAFP and Grant Advisory Committee Chair Dr. Richard Frye, MD, PHD introduce the connection between cerebral folate deficiency and autism in this published article.
This article is a companion piece to the story of Evan Carkhuff, a child diagnosed with autism who went many years with neither a medical diagnosis nor an explanation for his medical condition. Here we explain the medical science of the underlying neurodevelopmental disorder with which he was eventually diagnosed, called cerebral folate deficiency (CFD). As you will read from the description of his disorder in the accompanying article, Evan had several atypical characteristics that led some physicians down a wrong path. Evan’s story is an excellent example of a family who would not give up, and CFD is an excellent example of a disorder that was previously thought to be rare but is now being increasingly recognized to affect some children with autism.