For those of you that have been following my blog since the beginning, you will be almost as pleased as I was when you hear this news!!
We have finally gotten some REAL answers from Kaitlyn's medical situation!
Remember this?
|
I entitled her the Human Science Experiment |
|
Kate was part of a research study at the University of Chicago |
|
We sent this baby off two and a half years ago! Crazy!!! Just look at my cuties! :) |
Two weeks ago I got an e-mail out of the blue from these guys (after months of me e-mailing and e-mailing) asking if I had time to discuss Kaitlyn's findings! Ummmm.....YES!
The very nice Dr. of genetics gave me what is I am sure a crash of course "Genetics for Dummies" and informed me that they had in fact identified the genetic mutation that was causing Kaitlyn's abnormal blood sugars. He asked me about her symptoms and her numbers and said that based on her genetic test and symptoms that he could most definitely diagnose her as having MODY 2. So her original endocrinologist was correct in assuming that she had MODY but now we know exactly what kind of MODY she has.
And the good news doesn't stop there! MODY 2 is by far the best type of MODY to have because it doesn't require much treatment. Studies have shown that people with MODY 2 have increased blood sugar levels, but it is because their genetic mutation sort of sets their bodies at a higher standard. So what is normal for us (120 or so) isn't normal for MODY 2 people. They have a their "thermostat" if you will set higher (say 130 or 140). So basically treating the sugars with insulin is pointless. Kate's body is always going to fight to keep her sugars higher and the beautiful thing is that although they are higher than we would normally have they do not ever get high enough to cause damage to her body like a typical diabetics would. So what they have found is that treating the sugars with insulin or not treating them at all causes the same outcome for the patient.
Sooooo, after having Kate's current endocrinologist speak with this research Dr. they have decided to stop having Kaitlyn take insulin. Which means no more shots and a heck of a lot less monitoring and doctor's appointments! :) Yay!!!!
Her kidney issues seem to be completely unrelated and we will have to continue with that treatment but this is such a relief to know exactly what she has and that she can expect to live a completely normal life with it. I am so thankful that we became part of this study and even more thankful for the results!