Monday, February 1, 2010

He Ain't Heavy, He Ain't My Brother

The road is long
With many a winding turn
He ain't heavy, he ain't my brother


CHOP called today with our genetic test results. I felt like a first time mother waiting for the doctor to call with the big news. After all, we have The Crowley Pompe Connection going. We share the very rare "null gene" that produces no enzyme and according to Genzyme we belong to a very elite club. What a story to tell the grandkids!

But, then the genetic counselor said those words, "Well, you are not related to the other Crowleys!". What? How can this be? All my life I've considered myself a bit of a mutant. But, NO, Donna has to take center stage again and have the "null gene". All I am left with is an intronic splice at the sixth position. I mean come on!

So, I picked up my pride and listened on. The tests confirmed Maddie did receive one defective gene from each of us as expected. What's next? Now Carter and Emma will be examined and tested to see if they are carriers. This will come in the next few weeks.

And the load
Doesn't weigh me down at all
He ain't heavy he ain't my brother


Thanks for checking in with us,
Matt

Credit to: The Hollies, "He Ain't Heavy, He's My Brother"

4 comments:

  1. You guys just inspire us. Love you.

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  2. One of my favorite things about the Crowley family is that you all have this uncanny ability to find the humor in everything! Maddie always approaches things with kindness, fairness and a smile. We can all learn a lot from Miss Maddie. Smile on!

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  3. I believe intronic splice at the sixth position gives one a good sense of humor

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  4. Good luck to Carter and Emma. I know they are carriers of good looks.

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