Monday, September 12, 2011

Adding Another Diagnosis - Seriously?

As if 3 diagnoses (type 1 + type 2 diabetes + celiac disease) weren't enough, there might be another one in the mix.

The doctor called me with the results of Andrew's mixed meal test and said that they think he might have Glucogen Storage Disease - Type 0, which is extremely rare.

Completely dumbfounded, I had to run and Google it once I got off the phone so I could ask some logical questions.

In a nutshell, glucogen storage disease - type 0 is when your body does not store enough (or none at all) glycogen in the liver which results in lows.  This makes me panic because that's what could possibly help save a diabetics life if they would experience a bad low.  People with this disease will also have ketones.

The only way to treat this is to have snacks.  We've been giving him an uncovered 15g snack (8 gluten free crackers) at 2 hours post breakfast and it's been holding him until lunch.  He's still coming in the low 70's, but it's a lot better than the 40's!

Some interesting information is that this disease can actually MIMIC early diabetes.  What!?!  You can actually experience hyperglycemia and hypoglycemia a couple of hours after eating a meal.

When I asked the doctor about this, they responded saying that they really do think he has type 1 since he has antibodies, one of his siblings tested positive for GAD through a research study (they do not currently have diabetes), he has celiac disease, and I have hashimoto's thyroid.

Andrew did not have ketones when he was diagnosed with diabetes, and he doesn't usually get them at home through our random tests.  However, in his hospital stay for the mixed meal test, he had them on and off.  It was really strange.  We're still wondering if it is due to him losing weight and maybe being dehydrated after his gymnastics class before we went down.

The doctor told me that one of the c-peptide tests made absolutely NO sense.  That is still a mystery that they are trying to figure out.  There is a possibility that they will have to rerun the test or do a new one?

So, that's all I have for now.  The urine tests weren't all back to review yet.  I should find out more information next week at our endo. appointment.


  1. Seriously Nikki? How very confusing. But you know what? Our God is not confusing. He is a God of order and He has you in his mighty hand. I'm praying the Lord gives you and the doctors wisdom. And lots of it! Hang in there, sweet friend!

  2. Wow, Nikki. That is crazy. I can't imagine how frustrated/confused/scared you are dealing with all of this information (or lack thereof) Hugs!