June 30, 1999
Other Illnesses
Question from Minneapolis, Minnesota, USA:
My question is on behalf of a young family who lives in a very small town in northern Minnesota. They have just had their 5th child [now 8 months]. This child was born with Nonketotic Hyperglycemia. They found a support group for this disorder, where their child will never grow up mentally, but because of the rarity of the disease they are quite disbursed around the globe. Is there a university or research facility which may specialize in this where they can get updates? Is this disease/condition so rare that it is not looked at in the research field? What type of doctor or specialist is seen for this disorder?
Answer:
I think that you are referring to non-ketotic hypoglycaemia. This is a result of a number of conditions collectively known as the inborn errors of metabolism. Sometimes they present with profoundly low blood sugars which cause damage to the brain before the diagnosis is clear. However, if your friends’ son has not had such an episode then there is a good chance that it can be avoided.
Any major teaching children’s hospital will have someone on the staff with a special interest in such disorders.
KJR
