Latest news from MTM-CNM Family Connection
We are so thankful for our #mtmcnmfamily!

During this season of Thanksgiving, we reflect on how blessed we are to be connected to one another on this journey of Myotubular and Centronuclear Myopathies.  We are grateful to all of the families and professionals who traveled to Nashville in July to attend our 2017 MTM-CNM Family Conference, those who were with us in spirit, and to all of our generous donors and sponsors who made the Conference a success.  We are grateful to all of our researchers, medical professionals, and industry partners who are working so hard in the pursuit of treatments for our loved ones. We are also always mindful of the challenges that the holiday season can bring to our community as we remember and cherish the memories of our loved ones lost too soon. Thank you for holding each other up and sharing your strength during the difficult times.  Our grateful hearts and thoughts are with each and every one of you during this holiday season.  Thank you for the many blessings and gifts you bring to our MTM-CNM Family!  Wishing you and yours a very Happy Thanksgiving!
MTM-CNM Family Connection Family Meet-up

We were thrilled with the response from many local families to our open invitation to attend a brunch hosted by our MTM-CNM Family Connection team members, who were in town for the 2017 Patient Advocacy Summit in Irvine, CA in September.  We had a lovely time connecting families from the local area at Hotel Irvine--most of whom had never met in person!  There were family members from the Eubanks-Siegloch, Frase, McDermott, Mismith, Pesante, Serafano, Solis, Ward, and Wood families. We also were pleased to be joined by Dr. Mike Lawlor, from Medical College of Wisconsin, and Kim Trant, Director of Patient Advocacy at Audentes Therapeutics.  In keeping with our organization's mission, our primary goal was to gather families in the same region so that they could build local support together, share resources, deepen friendships, and establish new connections with other MTM-CNM families they might have not yet had the opportunity to meet. We hope to do the same next year following the last day of the Patient Summit that will be held October 3-5, 2018. Please save these dates for next year, and we hope even more local families will be able to join us in 2018! 
Global Genes 2017 RARE Patient Advocacy Summit

Marie Wood and Erin Ward represented MTM-CNM Family Connection, Inc. at the Global Genes 2017 RARE Patient Advocacy Summit in Irvine, CA this September.  They spent the two days of the Summit attending a wide range of patient advocacy sessions, including understanding the drug approval process, accelerating clinical pathways, partnering with industry, networking with other rare disease communities, and many more.  It was an amazing feeling knowing many of the therapeutic strategies discussed throughout the event are also avenues being pursued in our MTM-CNM Community, including gene therapy (Audentes), antisense oligonucleotides (Dynacure), repurposing of existing drugs (Dr. Dowling), and enzyme replacement therapy (Valerion).

A wonderful moment at the Summit was when Barbara Wuebbels, VP of Global Patient Relations at Audentes received the 2017 RARE Champion of Hope Legacy in Advocacy Award!  Thank you Barbara for your work with our MTM community over the last few years and for your extraordinary contributions to the global rare disease community throughout your career.

We were happy to help represent the MTM-CNM community voice at the Summit and look forward to incorporating all that we learned into MTM-CNM Family Connection's continued work for our community.  If you'd like to read more about the wonderful work of Global Genes and the Rare Patient Advocacy Summit,or view some of the recorded sessions, please click the button below:
Recent Research Publications

This is an exciting time for MTM-CNM research, on many fronts!  Here are a few of the recent publications from our dedicated researchers:

Amburgey et al., A natural history study of X-linked myotubular myopathy (Neurology, Sep 26 2017) 

Raess et al., Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy (Human Molecular Genetics, Oct 1 2017)

Cowling et al., Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation (Journal of Clinical Investigation, Nov 14 2017)

Beggs et al., A Multicenter, Retrospective Medical Record Review of X-Linked Myotubular Myopathy: The RECENSUS Study (Muscle & Nerve, Nov 17 2017)

Other previous selected publications can be found on our website:
Giving Back

Black Friday is November 24th!
Support us when you shop on Black Friday.  Go to and Amazon donates to MTM-CNM Family Connection.

#GivingTuesday is coming up on November 28th!  
To help encourage generosity, Facebook and the Bill & Melinda Gates Foundation will be matching up to $2 million of funds raised on Facebook for US nonprofits. Facebook is also waiving its fees for donations made to nonprofits on Facebook that day.  Look for our fundraiser on Facebook on Tuesday.  

It is also super easy to set up your own fundraiser on Facebook to benefit MTM-CNM Family Connection.  Just visit and click the button for "Raise Money".  Search for "MTM-CNM Family Connection" in the list of nonprofits, and you will be on your way!