#wrdd2017

Rare Disease Day Jan. 28, 2017 My son Andrew has MPS 1 (Hurler Syndrome) MPS-Mucopolysaccharidoses- Hurlers (MPS1) is a genetic lysosomal storage disorder caused by the body’s inability to produce a specific enzyme (alpha l-iduronidaise). As cells in our body die, they are processed and digested by enzymes. MPS children are missing an enzyme essential to processing and digesting these dead cells. As a result, without Andrew's lifesaving bone marrow transplant, these cells would be stored and build up causing progressive damage throughout the body, including in the heart, bones, joints, respiratory system and central nervous system. In time, this leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing and potential blindness. Hurler Syndrome is named after Gertrud Hurler who first described the condition in 1919.

Wear jeans👖today and show your support. I wear mine for my nieces Ally, Alana and my nephew AJ. Visit globalgenes.org to learn more. #globalgenes #support #wrdd2017

@Regrann from @gsfoundation - February 28th is Rare Disease Day around the world and all week long we are sharing stories, information and what it is to be "rare." Because TOGETHER, rare isn't so RARE at all! ✨✨✨ STATS: Rare disease affect 350 Million around the world ➡️ 30 Million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population ➡️ Approximately 50% of the people affected by rare diseases are children. And 30% of children with rare disease will not live to see their 5th birthday ➡️ Rare diseases impact more people than AIDS and cancer -- combined ➡️ 95% of rare diseases have not one single FDA approved drug treatment ➡️ #careaboutrare #rarediseaseday #wrdd2017 infograph by @globalgenes - #regrann