Patient and family partners

A Passionate and Constantly Growing Research Community Partnership

The PROMOT Network values close collaboration with individuals affected by neuromuscular disorders and their families and/or caregivers, ensuring its mandates are tailored to meet the needs of these populations. With the support of Muscular Dystrophy Canada (MDC), a dedicated team of patient and family partners has been established to formalize and strengthen this vital partnership. The diverse group includes individuals living with oculopharyngeal muscular dystrophy, congenital myasthenic syndrome, congenital myopathy, or myofibrillar myopathy, as well as their family members.

To equip them for meaningful contributions, patient and family partners underwent specialized training in patient-oriented research provided by the Neuromuscular Disease Network for Canada (NMD4C) and Muscular Dystrophy Canada (MDC). These training modules are designed to build confidence, enhance knowledge, and empower participants to share their lived experiences, guide discussions, and shape project-related decisions.

Recognized as equal members of the research team, patient and family partners play an integral role in the PROMOT Network. They can actively participate in every phase of the project, from establishing priorities and guiding studies to sharing and applying knowledge. Their firsthand knowledge and experiences enrich the expertise of professionals, ensuring that research outcomes align closely with the real-world needs of those affected by neuromuscular disorders. This collaborative approach reflects a growing movement in the health research community to value patient expertise as a unique and essential complement to the insights of researchers, clinicians, and decision-makers. Together, these partnerships are driving more inclusive, effective, and impactful research.

Bev Herscovitch

Why I joined PROMOT

When I learned about the opportunity to join this study as a patient partner, I immediately said yes with extreme excitement. For me, it's so important to have research that is shaped by the people it most affects. Also, living with a genetic condition that often feels unpredictable, I frequently feel powerless. This role lets me reclaim some control and contribute to something that could make a real, tangible impact.

The changes I hope to see

As an adult diagnosed with my condition later in life, my goal for this project is to provide others with congenital myopathy access to a resource that makes their disease easy to understand and empowers them to manage their condition to the best of their ability. Given the rarity of this group of genetic mutations, I also want to help people like me feel recognized by the medical community. We deserve to feel less isolated and reassured that there are professionals who genuinely care about improving our well-being and quality of life.

Felicia Assenza

Why I joined PROMOT

I chose to participate in the PROMOT study as a patient partner because, as both a patient and a naturopathic doctor, I saw this as an exciting, collaborative learning opportunity. I am excited to share my personal experiences and insights on myofibrillar myopathy while also gaining insight on the research process and experiences and knowledge that the PROMOT research team brings to the table.

The changes I hope to see

I would love to see these efforts lead to increased availability and access to resources and information that empower those of us diagnosed with myofibrillar myopathy or any rare neuromuscular condition to live to our fullest potential. 

method of communication.

Jill Rogers

Why I joined PROMOT

Why I chose to participate as a patient:  for a lot of us with OPMD, we are very much alone to figure out how to deal with our disease.  Many of us don’t have doctors that have any familiarity with it, and the only people we have known with OPMD are relatives, most of them deceased.  Anything that provides more information on how to cope with this disease will help us all.

The changes I hope to see

My vision for what changes I hope to see:  one thing I hope for is a list that OPMD patients can access for their city or region of Canada of local doctors who specialize in/are familiar with OPMD.  

Shauna Cartlidge

Why I joined PROMOT

As someone with Myofibrillar Myopathy, I am happy to partner with the PROMOT network project by providing feedback from a patient perspective.

The changes I hope to see

When the PROMOT network project initial objectives are met, my two main hopes are that: 1) There is a reduction in the amount of time it takes to receive a diagnosis, and 2) Myofibrillar Myopathy patients can have a place to connect with one another.

The idea that the time it takes to receive a diagnosis could be reduced is very exciting to me. Earlier diagnosis could help get patients into potential new treatments and/or clinical trials. In addition, earlier diagnosis may lead to less stress and mental anguish for the patient. Speaking from experience, having no diagnosis after several years made me feel as though the issues I was experiencing may have been all “in my head” and, possibly, I had become “lazy”. For me, receiving a final confirmed diagnosis lifted a large weight that I had not fully realized I was carrying.

PROMOT is working to create a network for the medical community by consolidating multiple rare neuromuscular disorders into a single, comprehensive natural history study. I strongly believe that it is important to also create a network for the patients of these disorders and hope that PROMOT could assist in the creation of this network. Being able to communicate with others in similar situations is a huge benefit in not only sharing information but also in creating human connections that help patients emotionally/mentally through the highs and lows of their disorder.