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"

Manicotti with a side of Myozyme

Last Thursday, Donna and I had lunch with more of our extended Genzyme family.  Sarah is in their Personalized Genetic Health team working with the area doctors.  Constance is an RN and Patient Care Liason who works as an trainer and advisor to doctors and home care companies when they set up IV therapy.  She will be at our house when Maddie begins her home infusion - - in 2011.

Before the waitress took our drink orders we learned that we know more about Pompe than we expected.  However, there is much to learn.  For example, the US has only a few hundred Pompe patients so when they say rare, they mean rare!  Several times Constance reminded us that we are in a very elite club because Maddie has one gene producing no enzyme and one producing only a little.  I wanted to reply with my favorite Groucho Marx quote, "I don't want to belong to any club that will accept me as a member", but I contained myself and just smiled.

We were pleased to hear that there are several companies, including Genzyme, that are developing improved therapies for Pompe which we hope Maddie can benefit from.  We also learned CHOP has the only Glycogen Storage Disease Center in the country lead by a number of specialists we have yet to meet.  (Pompe is one of 5 GSDs.)  Also, CHOP is considered the leading hosptial in the US for Pompe.  OK, maybe we can take the cold weather and another season of Donovan McNabb

Bon App├ętit ,
Matt