Wednesday, July 17, 2013

Sometime's nothing's a real cool hand....

Well, the results are in....and the winner one?

Our genetic testing we fought so hard for and waited six weeks for?  Normal.  A R G H.  I can't say we were necessarily surprised, but we were disappointed.  Howard reminded me we are probably the only two people in the world who have ever been upset to have normal genetic test results.  I had to agree!  And laugh!

The good news to this is....well, interesting.  While they couldn't find anything on his CGH Microarray, they did offer us a cool and unique opportunity.

Dr. Hoyme, the geneticist working with our family, obtained a research grant that allows him to enroll six undiagnosed children in a study.  The study involves drawing his blood, my blood, and Howard's blood, and doing a small-scale version of a whole-exome sequencing on Mason's blood.  (The full version of this test normally costs around $9,000.)  If the small scale version returns nothing, it sounds like the next step would be the whole-exome sequencing.

The coolest part?  Dr. Hoyme can select 6 kids for this study....and Mas is now #4!

We are headed in to do a bunch of paperwork and some bloodwork, but as of right now, it at least looks like there is a new direction to head...which is wonderful!

So, although the original test we had pinned all our hopes on came up empty, it did lead us down another road....and hopefully this road will continue down a path to some answers.

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