Torie's Story

Sunday, November 1, 2009

Torie loved Halloween! She got out of the bathtub tonight and told Lexie she wanted to put on her monkey suit and trick-or-treat. It's so hard to wait a whole year for some things. Tomorrow we head over to Denver for ERT#6. The weather looks like it should cooperate and hopefully we will finally get to meet Rylie!

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hollyNovember 6, 2009 at 3:23 PM
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What is MPS I?

Mucopolysaccharidosis I (MPS I), pronounced mew-ko-pol-ee-sak-ah-ri-doh-sis one, is a rare genetic disorder that affects many body systems and that leads to organ damage. It is caused by a defect in the gene that makes an enzyme called alpha-L-iduronidase (pronounced al-fa el eye-dur-on-i-dase). Because of this defect, cells either produce the enzyme in low amounts or cannot produce it at all. The enzyme is needed to break down substances called “glycosaminoglycans” (GAGs), pronounced gly-cose-a-mee-no-gly-cans, which are by-products of chemical reactions in the body’s cells. If GAGs are not broken down, they build up in the cell, eventually leading to cell, tissue, and organ damage.

Torie's Story

Sunday, November 1, 2009

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