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 ,