THANK YOU!  The 2017 MTM-CNM Family Conference was a huge success!
We 'Got Our Boots On' in Nashville over the weekend of July 21st-23rd for the 2017 MTM-CNM Family Conference!  Over 200 people attended the fifth US national conference gathering 48 families and 30 professionals from our rare disease community.  Twenty-eight states and four countries were represented, as well as so many families represented in spirit who were not able to travel.  We were grateful to have several of our lead researchers and pharma industry professionals working on behalf of our community join us and share the very latest on MTM and CNM research and advancements in treatments and engage in an interactive medical forum discussion along with patients and families.   Families and individuals also shared valuable information about living with MTM and CNM and helpful resources with each other.  Strong connections were made over the weekend and the strength and support of our MTM-CNM Family Conference community was palpable. It gave us energy to continue our journeys and we made lasting memories to carry home with us.

A big thank you goes out to the staff at the Nashville Marriott Airport Hotel, who provided extraordinary service, superb meals, comfortable gathering spaces, and attended to our every need.  It was a perfect venue for our Nashville 2017 conference! Thank you!

Many families also took some time before and after the conference to enjoy the Honky Tonks, Grand Ole Opry, great Southern food, and other Nashville sights and sounds.  Also, many thanks to our "Hometown Family", the Bowers, for their hospitality and kindness in helping provide local and tourist information to help families make the most of their visit.   Our MTM-CNM Family Conference community certainly "Got our Boots On" at #Nashville2017!

Read on for a recap of some of the highlights!

Speakers and Presentations
We had a great lineup of incredible speakers, professionals who volunteered their time to spend the weekend sharing their work with us and getting to know us better, too.  Presentations covered such topics as genetics and diagnosis, breathing and respiratory care, carrier issues, and the development of four potential treatments.  The four potential treatments that were presented at the conference this year were:
  • Gene Therapy (Audentes)
  • Enzyme Replacement (Valerion)
  • ASO Knockdown of DMN2 (Dynacure)
  • PIK3C2B Inhibition (Dowling)
To view the full agenda of presentations, click on the conference program in the right sidebar.  We are actively working on preparing videos of many of the talks that we will be posting in the near future on our YouTube Channel.  We will also share these in future newsletters as they become available.   Please subscribe to our MTM-CNM Family Connection YouTube Channel today to get the very latest!

We are also appreciative of the collaborative patient/family and professional Q&A forum that followed the formal presentations on Saturday afternoon.  It was an exceptional opportunity for both families and professionals to exchange information and experiences with each other in thoughtful and open dialog.

Empowering Through Play
MTM-CNM Family Connection is very grateful for the 2017 Quality of Life Grant we were awarded by the Christopher and Dana Reeve Foundation to hold the workshop "Empowering Through Play: Creating Switch-Adapted Toys for Kids with MTM & CNM" at our conference. This hands-on workshop was facilitated by two fathers in our community with expertise in this area, Dan McDermott and Martin Wilhelm.  Dan shared an informative presentation and then Dan and Martin led family participants through the steps of adapting age-appropriate toys for their child or teen with MTM or CNM. It was an amazing opportunity to help empower families with these skills that can not only help provide greater access to toys, but will also promote access skills to help their loved ones access communication and environmental controls in the future.  Thank you Dan and Martin, and the Christopher and Dana Reeve Foundation Quality of Life Grant Program for making this workshop possible for our community!

Family Voices Panel
We'd like to thank Rob Garland, Kim Brown, Joe Slaby, Hillary Sirmon, Marie Wood, and Erin Ward for participating in our Family Voices panel on Sunday morning that highlighted different examples of fundraising initiatives, community inclusion projects, career and education experiences, balancing family life, and advocacy efforts, including home care nursing initiatives.  It was a wonderful session that highlighted the importance of families sharing their knowledge, passion, and resources with others.

Moving Research and Development Forward
Families had the opportunity to enroll onsite with teams of researchers and to actively participate in research studies.  Connecting families to research through the conference in turn helps to accelerate the pace at which research teams can collect data and enroll participants in important studies for our community.  Several of the scientific presentations referred to data and information collected at our Conferences of previous years.  This year's research related opportunities included:
  • Participating in the University of Florida's Rare Disease Longitudinal Observational Study, this year including female carriers of myotubular myopathy
  • Testing new assessments to measure the ability to move in individuals with XLMTM with the Nationwide Children's Hospital Team.   
  • Connecting with the Beggs Lab team to learn about the study of Molecular and Genetic studies of Congenital Myopathies and a MTM1 Carrier survey
  • Speaking with Dr. Michael Lawlor about the Medical College of Wisconsin BioBank
Interested families also were able to check out the latest ventilator product in development from Philips Respironics.  Many of the participants said that it was an exciting opportunity to be a part of testing the  new model and giving feedback directly to the development team.

RARE Bears
rare bears 2017
We'd like to thank RARE Science for their generosity and support of making a delivery of RARE BEARS for our RARE kids to the 2017 MTM-CNM Family Conference! Through the Rare Bear Army program, community volunteers create one-of-a-kind teddy bears for one-of-a-kind "rare" kids.  Our MTM-CNM kids received their Rare Bears on Saturday evening and the smiles on their faces when they received their individual bears were priceless!  For children who were unable to travel, their bears were delivered to their parent(s) who attended the conference to bring home with them.  Thank you RARE Science and the RARE Bear Army for this wonderful program and for partnering with MTM-CNM Family Connection to make this special delivery happen!

Fun For Kids of All Ages
The kids had a blast in the "Kid's Room" this year!  We'd like send a special thanks to Ellen and Mark ("Paw Paw") Shirk (Cooper and Lilly Bushey's grandparents) for holding down the corral in the country-themed kids activity room again this year.  We'd also like to thank Dan Keppler and Fantasy Face Artistry for their wonderful balloon making and face painting services that had our kids smiling all weekend.  Video playing and shared gaming matches were also a hit with the kids, and adults, and we'd like to thank Richard Mayotte for bringing and setting up his gaming systems for use in the kids room. T he bonding between the kids, peers, and siblings was very special and created many cherished memories for all.

Variety Show
The 2017 Variety Show was a hit with much thanks to our superstar host Joe Slaby and his co-host Marie Wood.  We'd also like to thank Carol Slaby for her help recruiting and signing up the acts throughout the weekend in her trusted notebook she kept in hand. Andy Welter again kicked off the show with the Star Spangled Banner, and Nashville songwriter (and MTM family member) Molly Bowers closed the show with an original song.  From inspirational readings, sharing of graphic arts, singing, drumming, keyboard playing, puppetry, gymnastics, giggling and much more, our MTM-CNM community certainly is full of Nashville Stars!

Next Steps
After such an intense experience, sometimes it is a tough transition in the days and weeks that follow, as you go back home into your daily routines, back to "reality", and you wish there had been more time together at the conference.  Perhaps you hoped to join us but were unable to this year.  While there truly is no replacement for spending time together in person, we hope you know that the connections and relationships made carry on beyond the conference weekend, and our organization and the #mtmcnmfamily is here for the community year-round!  Stay connected online, and look forward to a few things coming up that we hope you'll add to your calendar:

2017 Patient Advocacy Summit
We are excited that team members of  MTM-CNM Family Connection  will be attending this year's  RARE Patient Advocacy Summit  hosted by  Global Genes  September 14th-15th in Irvine, CA! MTM-CNM Family Connection is a proud member of the Global Genes Foundation Alliance. The Summit is a great opportunity for all patients and family members interested in patient advocacy to connect with other rare disease organizations and hear the latest on advocacy efforts. While in Irvine, CA, we would also love to connect with local families! In 2016, we met with families over brunch on Saturday morning. We'd love to do the same on Saturday September 16th! Let us know if you are nearby, and let's arrange a time and location to get together! We'd love to see you all!

2018 MTM-CNM Retreats
As we messaged families following the closing of the conference, we are excited to share that MTM-CNM Family Connection is planning to host two retreats in 2018, a "Women's/Mom's Retreat" and a "Men's/Dad's Retreat" in 2018.  These retreats will aim to further promote the MTM-CNM Family Connection Inc mission of connecting families to relationships, resources, and research.  Soon we will post a questionnaire about what our community might like our retreats to be. These events will continue to be developed with your input. We hope that these retreats will help augment the national conferences that will continue to be held every other year at this time. We look forward to hearing your thoughts and ideas! We are so excited that we will gather together sooner than 2019!

We'd Love Your Feedback
Be on the lookout for a post-conference survey that will be sent to all attendees.  In the meantime, please feel free to send us your thoughts and feedback via email, phone, Facebook message, or letter.  The MTM-CNM Family Conference is a labor of love, and we do it for YOU - our #MTMCNMFamily.  Please let us know what went well and where we can improve.

And of course... we need your continued support to deliver on our mission.  While we at MTM-CNM Family Connection Inc volunteer our own time and energy, there are ongoing program costs as well as the major expenses of the Conference and the Retreats being planned.  We are asking for everyone to do what they can (and maybe just a little more) to keep this going.  For some ideas, check out our Fundraising page - and let us know what new ideas you may have!  It really makes a difference - thank you!

In This Issue
Thank You Sponsors!
Program Book
We are deeply appreciative for the beautiful conference program that Mark Ward designed for our 2017 conference and we are also thankful for Bulls Head Printing's assistance with the printing of the programs. Click the image to peruse the conference program, which contains stories from our amazing families, bios about our researchers, and the itinerary of the entire weekend! Thank you Mark for this cherished keepsake!

Levi's Light
We were very grateful to have Levi Gershkowitz return to our conference this year and share his many talents with our community.  Through the connections he made with families through his photography, Levi captured and highlighted meaningful moments and experiences throughout the weekend and compiled them into a beautiful closing slideshow (click here to view).  He also gave a powerful presentation on Sunday titled "From Silence to Resilience: Telling Your MTM-CNM Story" and spoke to the meaning-making and purpose that can arise from our experiences and journeys living with this rare disease. Levi also gave a moving handpan (aka "singing drum") performance during the variety show.  Thank you Levi for helping to create and capture so many special moments of Nashville 2017!

Music with Ali
We were lucky to have music therapist Ali Rapetti of Starling Creative Arts join us for the conference this year.  Ali led an interactive music session with kids on Saturday, as well as worked individually with kids playing songs, teaching some ukulele chords, and helping develop their acts for the variety show.  She also spent time with individuals who share her love for music and shared her talents with us at the variety show as well. The kids and our whole community loved having her be a part of our special weekend. Thank you Ali!

Myo the Traveling Turtle had a great time taking "Shellfies" with community members at the conference and he is looking forward to continuing his travel adventures to visit MTM-CNM families and friends this next year!  We especially want to thank Rilee Garland for being an excellent Myo Ambassador and spending time throughout the weekend telling community members about Myo and his adventures. If you are interested in having Myo visit you, please email us at

Reflection Room
We continued our very important tradition of honoring the beautiful memories of those who have gone before us yet continue to inspire us with the love and light they have left in our hearts and our lives with a place of honor in our 2017 Reflection Room.  Marie Wood also led a beautiful inspirational service on Sunday morning to honor, remember, and inspire strength and courage to carry on our loved ones powerful legacies in our own lives and through our community's work.