March 14, 2004
Question from Thomasville, North Carolina, USA:
My daughter was diagnosed with type 1 diabetes last year. She has a heart condition which required surgery at the age of five months and also has a hearing loss in both ears. We recently found out that she may possibly have Wolfram’s Syndrome. The tests showed that she only had one gene with a mutation, while the other one was normal. The doctor said that we should assume that my daughter has Wolfram’s. What is her life expectancy? Will she get the optic atrophy? Are there more studies that can help me and my family?
Your daughter must be in good hands if she has already had a chromosomal analysis. Although, at present, she only has diabetes and deafness, the diagnosis of Wolfram’s syndrome would be confirmed if she has shown an abnormality of the WFS1 gene on the short arm of chromosome 4, specifically 4p16.1. In other respects, the clinical presentation of Wolfram’s Syndrome or DIDMOAD is extremely variable and although optic atrophy has been reported, several times, to have developed before other features of the syndrome, I have been able to find only one report of optic atrophy as a late finding. Life expectancy is very variable with a mean life span of about 28 years that varies from 14 to 43. It might help to read fuller accounts of this rare condition in a previous Ask the Diabetes Team question and in some of the attached references; but I don’t think that any more tests are required at the moment. Perhaps though, the medical social worker in the clinic where you go may be able to offer some of the emotional support which I imagine all the family will need.