From North Carolina, USA:
My son, 11 years of age, was diagnosed with diabetes a year ago. He also has Optic Atrophy. The doctors here think he may have Wolfram's. Unfortunately, I have been unable to find a doctor here who has ever seen a Wolfram's patient. Is there any doctors or medical center in the South or in the USA that would see our son and help us determine if he truly has Wolfram's? He is losing his sight rapidly.
Wolfram's Syndrome is a very rare type of diabetes sometimes called DIDMOAD after the main components of the disorder, Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. Some of these cases seem to be inherited as autosomal recessives; but the syndrome has attracted special attention recently because of the finding of abnormalities in the mitochondrial or mtDNA. If you feel up to some technical jargon you might like to explore this field a little further in PubMed.
There is a good deal of variation in the clinical picture and there are rather similar features to be seen in some other mtDNA disorders like the Kearns-Sayre syndrome and its variants. From your question though I rather assume that what you are really interested in is a specific diagnosis in the hope therefrom of finding more about treatment as well as some group with experience in multidisciplinary care.
The diabetes itself is nearly always straightforward and will surely be easily managed by your son's present team, however the eye problems and perhaps also deafness and other burdens are going to need some form of special education at the local scene. The best person to help you with this would normally be his pediatrician. There is, I am sorry to say no 'magic bullet' for all your son's problems though you might want to talk to his doctor about a trial of thiamine which has occasionally helped. Finally there is the issue of specific diagnosis and this is going to require help from a rather specialised genetic laboratory. Most of those that have published reports in this field seem to be in Europe or Japan; but I am sure if you were to get your son's endocrinologist to help, you could get the names of contacts in the Genetics Departments at major medical schools, and then see if they would consider doing the mtDNA analysis. It is only fair to point out though that whilst a specific definition may help with genetic counselling it is very unlikely to help with management.
Original posting 26 Mar 2000
Posted to DIDMOAD
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