#63 Rare Disease Day 2017

Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. 

Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. 

Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... 

Maddison Shaw, Founder of Maddie's Herd

• Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion

• Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute

• Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder

• Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center

• Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org)

• Madison Shaw, Founder of Maddie's Herd

• Dr. Mustafa Kokhura, Yale Genetics

• Fran Reed, CureGSD

You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. 

Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. 

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