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