From Newcastle, New South Wales, Australia:
My son had a DNA test which showed he has the Wolfram gene but only in one gene not both, and the doctor asked about his behaviour problems and eyesight (which are both bad, and he is going for a hearing test next month) didn't seem worried. However, after reading about DIDMOAD I am a bit concerned. Can you enlighten me more?
Wolfram Syndrome or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Blindness) is a rare and clinically very variable autosomally recessive disorder of the short arm of chromosome 4. In the homozygous or affected form, the chromosomal abnormality is not necessarily the same in both genes. There is also a poorly understood link to a disorder of mtDNA (mitochondrial DNA) which may be maternally inherited or spontaneous. So far as I can find out, children with only one gene affected, heterozygotes, seem only to be specially vulnerable to behavioural problems and do not have any of the other components of the syndrome. There is a detailed account in Wolfram Syndrome at the National Center for Biotechnology Information website.
I think you need to talk to his obviously very astute doctor as to whether his eyesight problems are refractory or whether there is any evidence of optic atrophy. If he does turn out to have a hearing problem as well, it may be that the chromosome interpretation was partially incorrect and that he is in fact what is called a double heterozygote or that he additionally has a mtDNA component.
I do understand your concern and hope that nothing more will develop.
Original posting 13 Feb 2003
Posted to DIDMOAD
Last Updated: Tuesday April 06, 2010 15:09:42
This Internet site provides information of a general nature and is designed for educational purposes only. If you have any concerns about your own health or the health of your child, you should always consult with a physician or other health care professional.
This site is published by T-1 Today, Inc. (d/b/a Children with Diabetes), a 501c3 not-for-profit organization, which is responsible for its contents. Our mission is to provide education and support to families living with type 1 diabetes.
© Children with Diabetes, Inc. 1995-2016. Comments and Feedback.