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Wednesday, December 28, 2011

Phoenix Parents: Devoted parent of a terminally ill child, relentless in the search for a cure.

Last month I asked our readers for ideas for a new name to call parents of terminally ill children that are devoted to finding a treatment for them.

I came up with the idea after reading the blog my friend wrote for Parenting. com and a recent article in the NY Times titled “Dragon Mom”. The article is about a Mom who’s child has Tay-Sach’s an awful disease much like Sanfilippo. Tay-Sachs is passed to children in the same way as Sanfilippo i.e. it’s an autosomal recessive genetic disorder. Meaning each parent has to be a carrier for a mutated gene and each give a copy of the gene to their child. Like Sanfilippo there is no cure and it’s fatal. Even more horrific, Tay-Sachs children usually die by the age of 4.

Wednesday, December 14, 2011


My trip to Geneva for the Swiss Sanfilippo Foundations MPS/Sanfilippo conference was a great success.

The most rest I get is on a 7 hour flight. I read, take notes, watch movies and relax. Maybe I should travel more, but I always get so home sick. The second I land in a different country I can’t wait to get home and see Jonah. Just a few days away feels like a month.

The amount of studying, listening and asking questions. Conversation, translating, networking, meeting new people, putting faces with names and science. Heavy emotions and major decision making. It is exhausting and even though “we” i.e. my parents and scientists accomplish so much in just a few days of face time. I still never feel that sense of accomplishment. These trips always open up more doors that lead to more and more work to do.