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:
Played an integral role in the availability of viable mouse models for scientists. Dr. Anne Rutkowski worked with The Jackson Laboratory to set up a breeding colony of CMD mice, maintained through a Department of Defense grant for expedited access to live animals. Today, scientists from around the world are conducting research with mice and zebrafish, with even more animal model research now being funded by Cure CMD. At least four publications have resulted from tests on animal models;
Created the CMD Tissue Repository—a collaboration with Medical College of Wisconsin—and the CMD Biobank at the Coriell Institute. The Tissue Repository accepts autopsy and muscle biopsy specimens from individuals with congenital muscle disease. Launched in 2014, the Repository currently holds approximately 60 unique samples available for testing. Also, through a federally funded repository, Cure CMD has collaborated with the BioBank at Coriell Institute to store over 200 CMD cell lines;
Connected patients and their families with each other. When Cure CMD was founded, few resources existed for patients and their families to feel connected, supported, or even understood. So, in 2009, Cure CMD created the Congenital Muscle Disease International Registry (CMDIR), which identifies the global muscle disease population, provides information, and inspires research. Affected individuals’ participation in the registry is critical to its success; the highest possible quantity and quality of information will pave the shortest distance between it and its goals. Additionally, Cure CMD has leveraged social media to encourage community among patients, and hosts Facebook support groups with more than 1,000 participants; and
Started the Traveling Local Clinic (TLC). Without a diagnosis, patients can feel stuck; powerless. The CMDs are still rare enough that many physicians are unaware of how to diagnose it. To address this, Cure CMD, along with the Neurogenetics and Neuromuscular Division of Childhood Section (NNDCS) at NINDS launched the Traveling Local Clinic (TLC) to share CMD diagnostic and medical management algorithms; identify and provide genetic testing, when possible, to patients with undiagnosed muscle diseases; to recognize, provide, and support CMD communities; and to promote participation within the registry. Cure CMD founder and Scientific Director, Dr. Anne Rutkowski, along Dr. Carsten Bönnemann and his staff, traveled to 14 cities including Sao Paulo, Buenos Aires, Beijing, Calgary, Dallas, San Francisco, San Diego, Denver, Atlanta, Minneapolis, and more, seeing nearly 400 undiagnosed individuals who presented symptoms endemic to CMD. The goal is 100 percent genetic confirmation; currently they have confirmed a diagnosis in approximately 60 percent of patients. The TLC team holds regular follow-up calls with each site to update who has been genetically confirmed and who is still outstanding, talking through the barriers of obtaining genetic confirmation.
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.