BENEFITING: National Organization for Rare Disorders, Inc.
I am honored and humbled to run as a member of the Running for Rare Diseases NYC Marathon Team in support of the National Organization for Rare Disorders (NORD). NORD is dedicated to supporting individuals and families impacted by rare disease and the organizations that serve them through programs of education, advocacy, research and financial assistance services. Rare diseases impact the lives of 30 million Americans – two-thirds of whom are children, and one of whom is incredibly special to me. My nephew, Cory, has a rare genetic disorder. During Liz's pregnancy she and Nick were informed that Cory had congenital talipes equinovarus (clubfoot). Within days of his birth, he had his first surgery and was placed in a series of casts and contraptions. However, when he was months old, Liz and Nick returned to the doctor because Cory's ears were swelling. He needed surgery again. Their pediatrician then diagnosed him with hip dysplasia, and the standard methods of treatment were minimally effective. During the following years, Cory's presented additional symptoms including spine curvature, decreased mobility, fatigue and pain. Throughout it all, Liz and Nick have fought for the best care and coverage for Cory, in addition to maintaining full-time jobs, and two cross-country moves. It's been frustrating, time consuming, costly and heartwrenching. Despite working with the top pediatric orthopedists in Denver and Boston, it was their physical therapist in Dover, NH who recognized that all of Cory's symptoms could be connected. Cory is now almost 3 years old, and after hundreds of thousands of dollars of care, insurance lifetime limits, and limited coverage for desperately needed physical therapy, Liz and Nick have a final diagnosis for Cory's condition: Recessive Multiple Ephiphesal Dysplasia (rMED), and are receiving the treatment and coverage they need to ensure Cory has the most funtional and comfortable life he can. The funds raised from the Running for Rare Diseases Team will support NORD’s Undiagnosed Diseases Program; helping individuals to receive a diagnosis from the National Institutes of Health (NIH). Cory's story is not unique - there are may patients struggling with symptoms of diseases that are difficult to diagnose because of limited awareness, research and education. Families like my sister's, and patients like Cory depend on the awareness and research NORD makes possible. Donations in support of this campaign will be tax-deductible to the extent permitted by law. Thank you in advance for you support and contribution.