Human Science Experiment

When Kaitlyn was first diagnosed with diabetes there was no doubt that her diabetes was different than just Type 1 or Type 2. First of all she had no symptoms - we only discovered it through routine blood work for her kidney doctor. Secondly her blood sugars were elevated despite testing negative for all of the Type 1 markers and not being overweight. Her doctor explained to me that Kate probably had MODY which is a monogenic (single gene mutation) form of diabetes which is passed down through families. Unfortunately hardly any insurance companies pay for the genetic testing required to conclusively diagnose it. So her Dr suggested we take part in a MODY research study done through the University of Chicago. So for almost a year now I have been e-mailing and trying to get in touch with the Drs in charge of the research. On Good Friday I hit pay dirt! After e-mailing (yet again), calling, and also getting on their website registry I finally got good news! They would be mailing out a DNA kit right away.

On Thursday I got the kit!! Kaitlyn had to do a blood spot card which basically means any time she pricked her finger to check her sugars we had to squeeze out some extra blood and fill in these circles on a card. She then had to spit into a vial for a DNA sample. I was literally gagging watching her do it!! I hate spit!

after her hard work!

I for the longest time couldn't figure out why the Dr was so adamant that we verify her MODY through this study. The insulin she is taking is keeping her blood sugars in check. But when I was on the research study website I found out why. There are actually 12 different forms of MODY each with its own gene mutation and relating symptoms. There is one type that actually links with kidney problems which Kaitlyn has. So I realize now how important it is for us to find out exactly which form of MODY she has so we can understand its implications on the rest of her health.

So off we went to the post office to mail in her samples! Here is hoping we get a swift answer!! The Dr in the research study was telling me that they only test one gene at a time so it could be months and multiple samples before we have an answer. The upside is though once we have verification of her MODY through this study then her insurance should pay to have her tested through a certified lab.

Man do I love my little human science experiment....and her brother who stole my McDonald's cup to eat my ice and then insisted on being part of the pictures :)