Cure CMD: An Organization, A Mission, A Goal

When Rachel Alvarez was admitted into the emergency room for the third time in 2007 with a respiratory failure, doctors sped around her, working to bring her oxygen levels up and her CO2 levels down. She’d lived with an undiagnosed congenital muscular dystrophy (CMD) for her entire life, but she never had many answers. This hospital episode was one in a string of many over 37 years.
Dr. Anne Rutkowski, an emergency physician, overheard, “adult female with congenital muscular dystrophy,” her ears perked up, and she approached the bed.
“Let me see your hands.” Dr. Rutkowski did a quick examination: Joint hyperlaxity. Soft, velvety palms. High arched palate. Hyperkeratosis Pilaris (raised bumps on forearms and legs). Undiagnosed CMD. “I think you have Collagen VI CMD.”
Rachel was discharged three months later, having undergone a tracheostomy and experiencing several complications including a collapsed lung. She submitted a blood sample for genetic testing, waited nine months, and sure enough, the genetic lab confirmed Rachel’s Collagen VI CMD diagnosis. This knowledge was power: Understanding that people with the COL6 subtype experience respiratory insufficiency, among other symptoms, gave Rachel and her family the foresight to address the issues that came along with her specific condition.
Dr. Rutkowski is no psychic, but she had spent the previous several years learning all she could about CMD. Since her daughter was born with a CMD, Anne learned that a shockingly few doctors even know how to recognize the condition. In order to be the best advocate possible for her daughter, Anne had to become an expert. After meeting Rachel, Anne was compelled to do even more, and asked Rachel if she’d be willing to do some work for a new nonprofit that she was starting. Rachel readily agreed, and Anne—along with two other parents whose children have CMD—founded Cure CMD in 2008. Rachel was hired in communications/events, then became Associate Director, and is now the Director of Operations for the organization.
Since its founding, Cure CMD has co-funded more than $2 million in innovative, cross-cutting research for the CMDs. Connecting with a network of leading scientists, researchers, and clinicians around the world, the organization has made a significant impact on the lives of affected individuals and their families. To date, Cure CMD has:

Earlier this year, the organization received an award from the Patient-Centered Outcomes Research Institute (PCORI) to hold a five-conference series designed to increase collaboration among scientists and researchers, connect families with each other and with experts, and increase public awareness about CMD. With a clear vision for collaboration, the dedication to bring it to fruition, and the experience to navigate and relate to the CMD community, Cure CMD intends to build increasing momentum toward treatments and a cure for this rare disease.
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