5,667 Beautiful Happy Genes

And the news is…  There is absolutely no news!   The results are in and Madison continues to be a medical mystery.   

For those of you who don’t know, Madison was diagnosed with “Cerebral Palsy” simply because the doctors don’t know what else to call her “condition”.  Because of this, she is always the first to take any new tests that are developed that might give us more answers.  We are in a very exciting time in the world of genetics (or so I’ve been told), and the technology that has been developed over Madison’s lifetime is fascinating.

She did her first human genome DNA Microarray test when she was about two.  It was the latest and greatest at the time.  She’s done several since then.   They have never yielded an answer.  As they continue to fine tune these tests,  we are always given hope that we might finally get an answer.   This last year, there was a new latest and greatest test and we really did have some solid hope that we might get an answer.  In fact, 50% of all undiagnosed cases are getting a diagnosis with this new test!  This last test was able to test 5,667 genes.  In the world of genetics, this is incredible (or so I’ve been told.)   We did blood work for this test last spring, and just now got the results.  If any of these genes were mutated or abnormal in anyway, it might help us understand Madison better.  It might indicate a particular disease or condition. 

But alas…  Madison has 5,667 beautiful genes with no abnormalities!  There were a few “markers”, but they don’t match Madison’s symptoms, so they are deemed irrelevant.  This could be considered great news – some of those mutations are indicators of some terrible things.  It is only bad news because our hopes were a bit dashed at finally getting an answer.

So what does this mean?  Nothing, really.   A diagnosis is not going to change Madison’s life in any way.  If she does have a genetic disease/disorder, it’s not like anything can be done to “fix” it.  And we are not  in the business of “fixing” Madison anyway!  But we do want to do all that we can to make sure she is living the fullest life possible and that we are giving her all of the opportunities and help she might need.  A diagnosis would help us plan a bit more for the future.  And darn it, it would just be nice to solve this mystery.

So we shall continue to take pride that our girl is, indeed, one special gal.  There (really, truly) is no one like her in the whole wide world.  J  We will continue to thank God for blessing us with this beautiful, amazing,  spunky child, and be appreciative of all of this new technology that perhaps, someday, may give us an answer.

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