Wednesday, May 15, 2013

The Big Doctor's Appointment!

So we went to the geneticist yesterday to discuss the test results from Javy's urine analysis a couple of weeks ago.  I don't want to throw any specific disorders or syndromes out there, just yet.  He did give us one, but there's going to be more testing and if the results are positive, we will have a specific diagnosis.  Then I will become the biggest advocate for that disorder that there ever was.  Until then, I don't want to cause any unnecessary predeterminations or judgements.  I've already googled it, and I'd just prefer to wait.

Because you guys have been so great and I've gotten so much love and support, I will give you the basics of what the tests results showed.  Basically, your body is this really complex piece of art.    DNA is the media used to make our artwork and the DNA is made up of all these other really tiny things.  If one of those teeny tiny bits are even slightly tweaked, it can drastically alter how your artwork looks and acts.  Okay, that's your genetics lesson for the day, lol!

Javy's urine showed that he has a high level of uric acid which can cause all kinds of health issues, and after looking at Javy, the geneticists thinks that it is a possibility that it could cause his issues.  The really good news is that there are things that can be done that will help stop the progress of the disorder.  

Now we just to get another urine sample, this time its going to the Mayo Clinic, and another blood test for more specific testing.  I promise I will not wait another two years to get the urine test.  Maybe two weeks because I got to figure out how to get it there before Wednesday, before 10 a.m.  Wish me luck!

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