Formiminoglutamic Acidemia Aj’s story

The story of Lorraine

Formiminoglutamic acidemia (FIGLU) is an inherited condition in which the body is unable to break down and process certain building blocks of protein, called amino acids. Individuals with FIGLU are also unable to produce a specific form of the vitamin folate, which has many important functions in the body. There are two forms of FIGLU which are classified in terms of severity. Both are associated with varying degrees of physical and mental disability. Aj was diagnosed at birth. Unfortunately there is no treatment and so few confirmed cases, there are no know patient support groups. Aj has not shown any signs of physical delay, only metal delay. His speech and intellectual maturity is delayed but he is a a great kid! Our family is so very blessed and little Aj has taught us a great deal of patience. I hope some day we can meet and befriend others with children that have this disorder.