Monday, February 1, 2010

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 Appétit ,
Matt

5 comments:

  1. I found your page this morning.
    Here is one more link for your page: www.agsdus.org
    There are actually 12 different types of GSD. I don't know much about CHOP but Duke treats a lot of Pompe. We take our kids to the University of Florida where they have a GSD program that focuses on the liver types.
    Good luck with Maddie! My youngest is Maddie, too! :-)
    Jenny

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  2. Well, Dad said there was a reason you were supposed to go to Pennsylvania! God is good!

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  3. Constance is a name you don't hear often. Like the word lovely. I hope Constance was lovely

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  4. Matt & Donna: Thank you for your kind note and thank you for all the information you share here. I think I have learned more through your blog and with the information you have sent me than anywhere else. I will continue to check back here often. Best wishes to you and Maddie!

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  5. Love to you guys.

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