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March 17, 2006

Diagnosis and Symptoms

Question from Avon, Minnesota, USA:

My 12 week old son was diagnosed with diabetes when he was five weeks old. We took him to the Emergency Room after vomiting. He had signs of dehydration, acidotic breathing and a temperature of 100.5 degrees. His blood sugar was 741 mg/dl [41.2 mmol/L] and he was in a state of ketoacidosis. Since then, we have put him on an insulin pump and have stabilized his blood sugars. We have tested for antibodies and they were negative (thus the diagnosis is now neonatal diabetes). We also tested his KCNJ11 gene and it was normal. Chromosome six testing is our next step. We have had him on a basal rate of.05/hr with meal boluses of 0.2 to 0.3 depending on the feeding (he is breast fed). He was six pounds when he was first diagnosed and is now 14.6 pounds and we haven't had to increase the insulin doses. Is this a good sign that he may have transient neonatal diabetes? Is there a honeymoon period for neonatal diabetes? For transient neonatal diabetes, does that just mean that the pancreas isn't fully mature and it just takes a while for the pancreas to mature? Once mature, is the diabetes outgrown? Also, how do you know when a person has transient diabetes (besides genetic testing)? Do they gradually need less and less insulin, or does it happen really fast?


You are obviously getting a very thorough evaluation and excellent care. Transient neonatal diabetes is extremely rare and there isn’t extensive data regarding the course. The “classical” description is that of a child who is born very thin with low fat stores. The theory was that the diabetes is due to delayed development of the pancreas and when the pancreas matures, the diabetes goes away. The diabetes usually becomes apparent in the first week of life, but it has been reported to start as late as six weeks. In the “classic” description, blood sugars are usually normal by about three months of life, but abnormal blood sugars have been reported to last up until 18 months. These descriptions were before the genetic abnormalities which your child is being screened for have were found. In some children, the diabetes seems to recur in adolescence.

Neither antibody testing nor genetic testing can diagnose or rule out 100% either transient neonatal diabetes or permanent neonatal onset diabetes. It is not uncommon after diagnosis in classical antibody positive diabetes of childhood, for the insulin requirements to decrease for weeks, months, or occasionally years (the honeymoon or remission period) and then go back up (often unexpectedly and quickly)

Only time will tell whether or not the diabetes is transient. I suspect that your doctor may want to keep your child on insulin for up to two or three years before considering stopping it. There is old data to suggest that continued administration of low doses of insulin during the remission or honeymoon phase may prolong the remission. This is why we usually do not completely stop insulin in the remission phase. If your baby is not having problems with frequent low blood sugars, it may be safest to continue a low dose of insulin for a few years just in case this is the remission phase of permanent diabetes.

I know it must be very difficult not knowing whether or not the diabetes is transient, but it sounds like you and your child are doing extremely well with the pump therapy. I hope you will be able to enjoy your baby growing up despite the anxiety and uncertainty of his medical problems.