The Rarest Day of All... February 29th, 2024

What can you do to help advance research for MTM and CNM in honor of Rare Disease Day?

#1 Register yourself and/or your loved in the MTM and CNM Patient Registry and complete the Liver Questionnaire

The Liver Questionnaire was created by the MTM-CNM Liver Collaborative Working Group, a dedicated group of clinical and research experts and patient advocacy leaders in the community, cofounded by MTM-CNM Family Connection and Myotubular Trust. The questionnaire was developed through a thoughtful and iterative review process during the first year of the Collaborative’s formation.

The Liver Collaborative decided to partner with the MTM and CNM Patient Registry to host the questionnaire and help to establish one consistent data entry point for the community’s patient-reported information and to do so in an expedited way to escalate understanding.

Together with those of you who have taken the time to complete the questionnaire, it has served as a facilitator in quickly compiling liver data. THANK YOU! You can review the first set of data that was presented at the World Muscle Society Congress in South Carolina in October. You can also review the Liver Information Summary sheet that the Liver Collaborative created to help provide a tool for you to discuss with your care teams the occurrence of liver issues in the community and to decide together the best way to follow liver issues in your own or your child’s personal case.

If you have not joined the MTM and CNM Patient Registry yet, we encourage you to consider taking time in honor of Rare Disease Day to join and be a part of this robust community registry that is professionally managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University and overseen by an international steering committee of both medical experts and representatives from the community. The Registry is held to the utmost ethical standards in the management of patient data and is an example of exceptional stewardship of rare disease community data.

#2 Learn about a new MTM Brain MRI Study and consider if you/your loved one might be a potential candidate for participation.

The MTM and CNM Patient Registry is also partnering with a new research project that is being led by SickKids Hospital, Toronto. The aim of the study is to better understand any changes in the brain for MTM patients. The registry has been asked to partner in this work by helping to collect data and the criteria for study selection is as follows:

male patients (alive & deceased)
confirmed genetic diagnosis of X-linked MTM (XLMTM)

It’s easy to be involved and consists of answering a couple of registry questions. Then the registry, along with your doctor, will do the rest.

We hope as many of you can contribute to this interesting new research as possible and if interested please reach out to the Registry Project Manager, Julie Bohill, at Julie.bohill@ncl.ac.uk

Other Advocacy Efforts

Marie Wood is back on Capitol Hill this week advocating for Rare Diseases and representing our MTM/CNM community with the Rare Disease Legislative Advocates (RDLA) Rare Disease Week 2024. We deeply appreciate Marie’s dedication and commitment to representing our community’s voice during these important legislative activities and beyond!

In November, the Griese Family participated in their second Race El Paso Flying Horse event leading “Zekie’s Posse” in honor of their son Ezequiel, who lives with MTM. We are so grateful to the Griese family for their commitment to raising awareness about MTM & CNM and their generous fundraising activities to support MTM-CNM Family Connection.

Erin and Mark Ward attended the World Muscle Society 2023 Congress in South Carolina in October to spread awareness of the MTM and CNM among neuromuscular experts, and presented the poster on the first data from the MTM and CNM Patient Registry Liver Questionnaire. We send a heartfelt thank you to the Wards for continuing to make moves that mean so much to our community.

We know that for our community, and the thousands of individuals who live with rare diseases, “Rare Disease Day” is our everyday - so often teaching those we encounter in day-to-day life about rare diseases through our interactions and stories. We do hope that on this day you experience the collective effort from the entire Rare Disease community bringing attention to the fact that rare diseases are not “rare”. They affect the lives of so many individuals in the world and their loved ones. Each and every rare disease deserves therapeutic treatment options, and we will continue to advocate for rare diseases until there are options for all!