Our 15 year old son was recently diagnosed with Type 1 diabetes. There are no known cases of Type 1 diabetes on either side of our family, unless a distant cousin of my wife's counts. However, there are several cases of Type 2 diabetes on my wife's father's side of the family. This diagnosis was made originally on the basis of a single standard blood sugar level test. Our son was losing weight and drinking a large amount of water which led us to have the blood sugar test ran.
Since this date we have spent a lot of time and effort to become educated (more knowledgeable) on diabetes. We ask our original Endocrinologist to run the A1c, C-Peptide and antibody test. He refused, stating that they would be a waste of time as our son clearly was a Type 1 diabetic and would have no beta cells. We changed doctors. The next doctor we were sent to agreed to run the test but stated from the beginning that the results would be meaningless. True to her word, when we got the results indicating that our sons C-peptides' were normal and the he did (does) not have the antibodies, she still was interested in treating only his symptoms and doing nothing to further understand the root cause(s) of his symptoms or to look into what other factors may be involved. We have now gone on to our third doctor who seems to be more aware of the current advancements in diagnosis. He looked over the test results and has indicated that for now he would classify my son as a "Type 1.5" indicating that he could go either to a full Type 1 or to a Type 2 over time. We are more pleased with our current doctor but would like to obtain a comprehensive analysis (diagnosis).
Can you identify to us who is doing research into the Type 1A - 1B areas and who we could approach to obtain an overall analysis into our son's specific medical condition?
Diabetes in young people is coming to be more clearly subdivided. The commonest form of Type 1 diabetes Type 1A as it is coming to be called is an autoimmune disorder and is characterised by a positive antibody test. The A1c [glycohemoglobin] and C-peptide tests do not really contribute to the diagnosis at this stage. It has recently come to be recognised, however, that the same clinical picture can present with a negative antibody test. This is seen in over half the new onset cases of Hispanic or African American descent; but also in young people of Caucasian origin albeit much less commonly. Not enough yet is known about the molecular basis of this disorder(s) to have evolved a specific laboratory test; but an important characteristic is that many of them become insulin independent after a few months and glucose control can be managed with diet, exercise and sometimes oral hypoglycemics. These cases are often referred to nowadays as Type 1B diabetes (and in the past were also called Type 1.5 diabetes).
There are some other possibilities that perhaps should be mentioned. The commonest are the various forms of MODY (Maturity Onset Diabetes in Youth). Except for MODY3 they do not usually need insulin at the time of onset and there is usually a strong family history and associated obesity is common. Finally there are a few rarities like insulin resistant syndromes, e.g., 'Insulin resistant diabetes Type A' and also the mitochondrial diabetes which are inherited down the maternal line and nearly always have associated clinical abnormalities like deafness.
Treatment of these variants is exactly the same as for the better recognised forms of diabetes; but it is understandably disquieting for a family like yours that a specific diagnosis is not more readily available. The answer is of course that, as I have said already there is no laboratory way as of now to identify Type 1B and the disorders of enzymes like Hexokinase in MODY2 are only done in a few research laboratories and that is also especially true of mitochondrial disorders.
Last Updated: Tuesday April 06, 2010 15:08:56
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