Updated: Feb 18
How did Rachel Alvarez become part of Cure CMD?
I was born with congenital muscular dystrophy, but I didn't learn the details of my condition until I was 38. In 2007, I was in the ER for the third time in as many months for untreated respiratory failure. As medical professionals worked to bring my CO2 levels down, assess the damage, and figure out a treatment plan, a nearby ER physician overheard, "adult female with congenital muscular dystrophy" and her ears perked up. That doctor was Anne Rutkowski, whose daughter had recently been diagnosed with CMD. Anne introduced herself and asked if I minded a few questions and a quick examination: Proximal weakness. Distal hyperlaxity. Joint contractures. Velvety palms. High arched palate. Hyperkeratosis Pilaris. Diaphragmatic weakness. Congenital Muscular Dystrophy, not otherwise specified. She said, “I think you have Collagen VI-CMD.” Following my discharge more than two months later, Anne arranged for genetic testing, and a few months after that, we discovered that her diagnosis was correct. Having a name for the condition I've lived with since birth was life-changing: Understanding that people with COL6-CMD experience respiratory insufficiency, among other symptoms, gave me and my family the tools to finally address the issues that come with having CMD head on. That year, I began volunteering for a fledgling organization called Cure CMD, co-founded by Anne with two other parents of children with CMD (Patrick May, current Board President, and Richard Cloud, co-founder of Prothelia Therapeutics).
It's been almost 13 years since Anne and I met in the ER. Though I started in 2008 as a volunteer, today I am the Executive Director and board member for Cure CMD. This is my dream job. Do I sometimes spend more time with my co-workers than I do my husband? You bet. Do I feel exhausted at the end of every day? 100%. But my passion for this work has only grown since the day I began this journey, and I am more dedicated than ever to our mission: to advance research and improve the lives of CMD-affected individuals and their families.
Since 2008, Cure CMD has supported more than $3 million in research, earmarked solely for the CMDs. You, too, can make a difference in the lives of the CMD Community - learn more about our work here, or hit that donate button at the top of this page. In a few days, we'll be launching a week-long experience sharing some of the beautiful faces of CMD - follow us on Instagram and Facebook to meet some incredible people who add immeasurable value to my life every day, and whose lives you can impact with a contribution of any size in support of our work.