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Question:

From Thessaloniki, Greece:

We have recently been informed of the spectacular change in the treatment of the six-year-old Lilly Jaffe suffering from neonatal type 1 diabetes (Breakthrough discovery for Type 1 Diabetes, February 11, 2007). Lilly's diabetes was not due to an attack of her immune system, but due to a genetic mutation. On this basis, we would appreciate your advice concerning our son who was diagnosed with type 1 diabetes six months ago, in August 2006, at the age of three years.

Is there any chance that our son's diabetes is caused by a similar genetic mutation and that his diabetes does not have an autoimmune origin? At the time of his diagnosis, during his hospitalization, we did tests for C-Peptide (which was found to be 0.5 mg/ml) and for anti-islet antibodies (IAA), which was negative. Our doctor said that this does not mean that our son's immune system did not attack his beta cells, but it is just not evident by these tests.

We are determined to do whatever test available in order to check whether his pancreatic beta cells have been indeed destroyed by his immune system or they are for some reason inactive (but still alive!). For this reason, we would like information concerning all the possible tests we can do in order to find out the exact status of our son's diabetes.

Answer:

The genetic tests are available in special laboratories that can answer this question, but they are expensive. You should discuss this specifically with your child's diabetes team and they can determine if this is available where you live. A medical center or specialty laboratory can make special arrangements to have the sample analyzed in one of the research laboratories or specialty laboratories around the world.

SB

DTQ-20070228025843
Original posting 15 Mar 2007
Posted to Research: Other Research

  
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Last Updated: Tuesday April 06, 2010 15:10:12
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