Wolfram Syndrome – Facing and fighting death at the age of 25

Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the brain (especially the brain stem) and central nervous system. 

There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases whilst mutations in the CISD2 gene are responsible for the type 2 Wolfram syndrome.

It is inherited in an autosomal recessive pattern meaning both copies of the gene in each cell have mutations.

Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems.