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News and Reminders for our #mtmcnmfamily!

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Dynacure is collecting Patient Stories!

A message from Dynacure's Patient Advocacy Lead, Lori Gorski, to our MTM-CNM Community:

My name is Lori Gorski and I oversee Patient Advocacy for Dynacure. Our company has just begun a Phase 1/2 study of an investigational therapy for the treatment of Myotubular and Centronuclear Myopathies. We are looking forward to learning more about MTM and CNM through these early clinical studies, and through our engagement with you. Dynacure is headquartered in Strasburg, France and our study is currently underway in Europe. If successful in this first study, we will look to pursue additional clinical trials that include participants in United States. As our plans progress, we are eager to learn more about the patients, families and caregivers here in the US.

Here's my ask: I am looking for about six patients across the country who would agree to share their stories with me. I am most interested in learning about your path to diagnosis, how MTM/CNM affects your life and about your ambitions and hopes for the future. My goal is to eventually share these stories with the entire Dynacure team, and externally on social media and on our Website as a way to increase general awareness and understanding of this disease. I know just six stories cannot entirely capture the unique journeys and experiences within CNM/MTM families, and I am eager to continue our learning in other ways in the months ahead.

If you'd be willing to share your story, I ask that you send an email directly to me at [email protected] and I will share more details about this project with you. We can set up a time to speak by phone at your convenience for a one-hour interview. After we speak, I will share a draft of your story with you to be sure you are comfortable with what we captured. In a perfect world, I'd love to come and meet with you in person, but those plans must remain on hold for now due to COVID.

Thank you for the opportunity to learn more about CNM and MTM. I am grateful to each of you, and to the devoted leaders of the CNM/MTM patient organizations for your collaboration and guidance.

Lori Gorski, Patient Advocacy


Congratulations to Dynacure for receiving the Rare Pediatric Disease Designation from the FDA for DYN1! This is great news for the company and an acknowledgment by the FDA of the seriousness of Centronuclear and Myotubular Myopathies and how the conditions impact our lives.

You can read Dynacure's press release here.

And click here to see a replay of our Community Conversations featuring Dynacure.


Levi Gershkowitz has announced a final push for the #IStayHomeForRare fundraising campaign, which concludes on Aug 7! So far, 72 rare individuals and families have been supported with scholarships ranging from $500 to $2500. Please consider making a donation to meet the end goal of raising $100,000 to support others in the rare community!


Replay: Community Conversations: Dr. Dowling

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On June 13th 2020, MTM-CNM Family Connection and Where There's a Will There's a Cure co-hosted a live Zoom presentation for the MTM-CNM family community with Dr. Jim Dowling of the Hospital for Sick Children in Toronto. The main topic was his upcoming clinical trial for repurposing Tamoxifen for XLMTM. We were pleased to have over 40 community members tune in live for the presentation and question-and-answer session that followed. Watch the replay of the video here:

National Burden of Rare Disease Survey

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Individuals and families living with MTM & CNM: The deadline for the “THE NATIONAL BURDEN OF RARE DISEASE SURVEY” has been extended to Monday, August 3rd, so there is still time to participate and make your voice heard.

EveryLife Foundation for Rare Diseases is collecting essential data across all rare diseases that will help demonstrate the public health crisis of rare disease, inform policy proposals, and work to improve the lives of those living with rare diseases and our families. Please help make sure our MTM & CNM voices and experiences are included! To complete the survey, click here.

(*The use of the word “burden” is an historical and economic-based term used widely within the healthcare industry. While MTM-CNM Family Connection believes it is time to culturally shift the use of this word in these discussions and advocacy, we fully support this effort to collect this essential data, on the COST of rare disease, in order to drive improvements for rare diseases. We never want our members living with a rare disease to interpret that their lives or care involved to live, is a “burden”. We will continue to advocate for the use of alternative language to re-frame these discussions. Let’s focus the conversation and resolve to improve the “inequities, injustices, biases, and barriers” that lead to increased costs for those living with rare diseases, rather than the “burdens” rare diseases bring. This data collected by the EveryLife Foundation will help the Rare Disease community to do that. Please spend a few moments to complete now!)

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Scholarship Opportunity from The EveryLife Foundation!

Attention #mtmcnmfamily ages 17 and older! Are you pursuing educational or training goals? Could you benefit from a scholarship? EveryLife Foundation for Rare Diseases and Horizon Therapeutics have launched the #RAREis Scholarship Fund!

In 2020, the #RAREis Scholarship Fund will provide thirty-two $5,000 scholarships for adullts over the age of 17 pursuing their educational and training goals.

Make your dream happen and click the button below to apply now or before August 28!

Rare Scholarship

Stay Connected!

Be sure to follow our public MTM-CNM Family Connection Facebook page and to join our MTM-CNM Family Conference Facebook discussion group to keep updated so you don’t miss out on important resources and other events like this!

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