This year’s Rare Disease Day, February 29, 2016, focuses on “patient voice” and its critical role in communicating individual needs and instigating change that improves patients’ lives and the lives of their families and caregivers.
The GoldLab Foundation is proud to join individuals, families, patients, and organizations around the world in showing solidarity, sharing research, and raising awareness for the rare disease community. We’d especially like to recognize the following people who have presented at the GoldLab Symposium and who continue to advocate, tirelessly, for patients and “patient voice” within the rare disease community.
Matt Might is the father of the first patient ever discovered with a novel ultra-rare disorder, N-Glycanase 1 (NGLY1) deficiency. After his son’s diagnosis, Matt applied his expertise as a professor in computer science and used social media to locate like cases, finding the second case in only two months. He has given a voice to his child, as well as those who find themselves as the “first” case. Watch Matt’s moving presentation, from 2015, “One of a Kind: What Do You Do When You’re the First?” at https://goldlabfoundation.org/presenters/matt-might/.
Sharon Terry is president and CEO of the Genetic Alliance and the founding CEO of PXE International, a research and advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE), a condition that affects her two children. Genetic Alliance gives a voice to the rare disease community as an outspoken health advocate on major governmental advisory committees. Watch Sharon’s presentation from 2011, “Rare and Neglected Diseases: The Time Is Now!” here: https://goldlabfoundation.org/presenters/sharon-terry/.
Rick Guidotti is the founder and director of Positive Exposure, an innovative arts, education, and advocacy organization working with individuals living with genetic difference. Positive Exposure uses the visual arts to significantly impact the fields of genetics, mental health, and human rights. He has given a voice to those living with genetic conditions, and is working to change societal attitudes towards individuals living with these diseases. Watch Rick’s presentation, from 2011, “Neglected Diseases are All of Us” at https://goldlabfoundation.org/presenters/rick-guidotti/.
When doctors diagnosed Pat Furlong’s two sons, Christopher and Patrick, with Duchenne muscular dystrophy in 1984, she didn’t accept “there’s no hope and little help” as an answer. She instead immersed herself in understanding the pathology of the disorder, the extent of research investment, and the mechanisms for optimal care. She also founded the Parent Project Muscular Dystrophy (PPMD), the largest non-profit organization in the U.S. that’s solely focused on Duchenne. She has given a voice to so many patients, parents and families fighting Duchenne and Parent Project Muscular Dystrophy continues to grow. Watch Pat’s presentation, from 2010, “The Parent Project: Advocating for Children’s Health” at https://goldlabfoundation.org/presenters/pat-furlong/.
These are only a few of the people within our community who are working hard to give a voice to the rare disease community and inspire hope for the future. We are proud to continue to support their efforts and be part of the growing advocacy for these brave patients and families.
You can find out more about Rare Disease Day and events happening in your area at www.rarediseaseday.org
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