Happy Mother's Day!May, 2014

It's that time of year when we take a special day to honor mothers, and we want to especially honor the mothers in our MTM-CNM family. Balancing the multiple and challenging elements of life in caring for a child or loved one with special needs, these women literally "do it all," and it shows in the happiness and thriving of the wonderful kids and adults in our community! Where would any of us be without our mothers, those marvelous creatures imbued with profound inner strength and immeasurable tenderness? Whether your child lives on this side of eternity or on the other, you have been forever marked as a mother because love never dies. Thank you, moms, for the gift you are to your family and for simply being you. You are appreciated. You are treasured. As it was once written: "Many women do noble things, but you surpass them all."


We hope that this newsletter finds you, your mother, your family, your children, and all those dear to you, well! Have a wonderful Mother's Day!

Warmest regards,

The MTM-CNM Conference Planning Team

Shannon, Marie, and Erin
Shannon Mashinchi, Marie Wood, and Erin Ward

MTM1 Carrier Study at Beggs Lab

Lindsay Swanson, MS, CGC
Lindsay Swanson, MS, CGC
One of the spontaneous conversation topics arising among the families at the 2009 MTM-CNM Family Conference in Houston, TX, concerned the observations of possible MTM symptoms in carrier moms. Since then, the conversation has continued as well as the curiosity about how an MTM1 mutation might be affecting the health and well-being of carriers.

Lindsay Swanson, MS, CGC, at the Beggs Lab, Children's Hospital Boston, is now conducting a study to examine possible symptoms present in women who are carriers for genetic changes, or mutations, to the MTM1 gene, in order to better comprehend the impact of such mutations to the body.

The study will involve a 30-45 minute phone call survey, which addresses past medical history and current health status. The questionnaire may be sent in advance if participants would prefer to review the questions prior to the scheduled call.

If you are a carrier mom (US and international) interested in participating in this study, please contact Lindsay Swanson via email: [email protected] or phone: 617.919.2169.

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients with MTM  Valerion Therapeutics

As we shared at the 2013 conference (see video of Dr. Hal Landy explaining the study here) and as we've been discussing on our conference Facebook page, Valerion Therapeutics is sponsoring a "longitudinal study" (meaning a study of individuals over an extended period of time) that will examine the course of MTM and functional status of patients (see conference video of Dr. Laurent Servais explain the ways of measuring muscle function here) in order to establish the outcome measures to be used in future clinical trials. 

In other words, this study will help provide a numerical, statistical baseline of how MTM affects patients, so that when trials take place, any improvements can be seen in the actual numbers and used as evidence to obtain drug approval by the FDA. This is why studies like this are absolutely critical to moving forward on the path to clinical trials and hopefully the eventual treatment of our loved ones affected by MTM.

This study is now enrolling and you can find out more on clinicaltrials.gov! See also a very informative news release about this study by the Myotubular Trust as well as this release by the MDA, which could help to answer some of the questions you might have.

MTM Events Study
 and Carrier Female Registry
Sabine de Chastonay
Sabine de Chastonay

Sabine de Chastonay of the CMDIR is continuing to enroll families into the MTM Events Study

This study looks to understand the impact of emergency events on the need for respiratory support and other aspects of the patient's well-being. Participation is eligible to genetically confirmed males with MTM, and it involves a monthly phone survey for the period of one year. The first intake call may take up to 60 minutes, and the subsequent calls should only be about 25 minutes. If you are interested in participating, please contact Sabine via phone: 424.265.0874 or email: [email protected]:

Watch the following video of Sabine explaining the importance of these studies at the 2013 MTM-CNM Family Conference here. You can also read more about the MTM Events Study at clinicaltrials.gov.


On a separate but related note, Sabine also sent out an announcement informing the community that "the CMDIR is looking for ALL mothers, grandmothers, sisters and aunts of a person with myotubular myopathy (XLMTM) with the following symptoms: 
Droopy eyelids (ptosis). This may be one side or both sides. 
Difficulty moving eyes all around 
Difficulty running, jumping or lifting arms overhead. 
Weakness may have gotten worse over time and may only be on one side of body 
Tight hips, knees or ankles (contractures) 
High arched palate 
Club feet 
Breathing difficulties with abnormal breathing test (pulmonary function test) 
XL-MTM affects males and is caused by a change in the MTM1 gene. Female family members may carry the same genetic change in the MTM1 gene. If a female carries the same genetic change, she may or may not have one of the symptoms above. If she has symptoms, she is called a manifesting carrier. The CMDIR is currently looking to register all manifesting carriers with MTM. We would like to review your family history and symptoms with you. If you have not had genetic testing, you may qualify for MTM testing through the MTM Genetic Testing Study." 
N.B. This registry is different from the MTM1 Carrier Study taking place at the Beggs Lab at Children's Hospital Boston mentioned above. We encourage you to participate in both the Study and the registry. So if you are a carrier female who desires to register with the CMDIR, you may contact Sabine at [email protected].
About Us

Visit our website at www.mtm-cnm.com!
In This Issue
MTM1 Carrier Study
Longitudinal, Functional Natural History Study
MTM Events Study
Watch the exciting video of Dr. Martin Childers discussing the success of gene replacement therapy in Labrador Retrievers with x-linked MTM! You can also read about this incredible work in the March issue of Neurology Today.
Casey Childers 2013
Dr Childers at 2013 Conference!

MTM/CNM Family Conference
Join us on Facebook!
Check out our YouTube page.

Fun blogpost, for your reading pleasure! 15 Superpowers of Special Needs Moms
Recent Community Happenings:

Bring a smile to your face this Mother's Day by reading this great
this great article about Anthony Katz's monster party this weekend! Happy birthday, Anthony! Keep defying the odds!

CNM mom Hillary Sirmon has been spreading the message of accessible playgrounds, and you can read about the mission and success on her blog Miracles to Milestones

Shout out to the Forbis, Cummins, and Frase families for the awesome work raising thousands of dollars for research as well as medical expenses at the Logan Forbis Benefit on May 10th! Way to go, guys!

MTM cutie, Kamarion Willis aka "Kmoney", needs some accessible wheels. Check out his gofundme page to find out how you can support him!