Melanie McKay: A registered nurse and mom who set her mind to connecting families and advocating for statewide screening of Infantile-Onset Pompe Disease. Melanie was honored for her efforts in advocating for education, much-needed awareness, and research for a rare disease impacting her son Ryker. Pompe is a rare genetic disease that is caused by an enzyme deficiency. Without the enzyme, a complex sugar builds up in muscle cells affecting their ability to move and breath. Infants with this disorder can experience muscle weakness, poor muscle tone, an enlarged liver, heart defects, dependency on a ventilator to breathe, a feeding tube, and sometimes the disease can be life threatening.
Each year, an award is given to those who have served as a beacon of change for an entire community – the TORCH Award (Transforming Outreach in Rare disease and Creating Hope). Through Sanofi Genzyme, the TORCH Awards, established in 2017, recognizes inspiring advocacy efforts of patients, caregivers, families, and supporters in the rare disease community. In recognition of their efforts, Sanofi Genzyme donates $5,000 to each of the above award recipient’s non-profit of choice to further support their missions. The 2020 TORCH Award winners were recently announced.
Visit https://youtu.be/yce97Vj5I5U for more information about The TORCH Awards.