Hey MTM-CNM Family! Consider spending your RARE Disease Week in a meaningful and powerful way as a rare disease advocate on Capitol Hill! The RDLA (Rare Disease Legislative Advocates), a branch of the EveryLife Foundation, has opened up applications for travel stipends to Rare Disease Week on Capitol Hill February 25-28, 2020, an event which brings together the rare disease community from all over the country in order to be educated on federal legislative issues, connect with other advocates, and share their unique, personal stories with legislators. The travel scholarship applications are open until December 10, 2019 (notifications for recipients and those waitlisted will be sent by December 18), so now is the time to apply!

At the MTM-CNM Family Conference in St. Louis, MO, this past summer, Lindsay Lykens and Marie Wood shared about their experiences in legislative advocacy and attending Rare Disease Week on Capitol Hill this past February along with Craig Lykens and Myo the Traveling Turtle! Marie also announced the development of COLA, the Committee on Legislative Advocacy, as an organic expansion of the broader advocacy work our team has been committed to for the past decade! 

With the exciting developments in current and upcoming clinical trials, we know that there are still hurdles up ahead, and as Marie shared on October 16, 2019, when she and Erin spoke during the joint educational webinar with the American Brain Coalition and American Society of Gene and Cell Therapy, “As patient advocates, we want to see the drugs reach ALL of those affected by the condition, whether young or old, mild or severe. No man, woman, or child left behind! Sometimes that means asking hard questions and putting pressure on those who hold power over these choices, and that’s something we’ve always been willing to fight for.” We don’t refer to our #mtmcnmfamily members as “warriors” for nothing, we know how strong you all can be when it counts, so we would love for those who are interested in legislative advocacy to join us this coming year on the Hill! 

For further information about the schedule, hotel options, and more about Rare Disease Week, please go to the Rare Disease Week on Capitol Will webpage.

Audentes Therapeutics is conducting a survey to gather important data related to the Quality of Life & Economic Impacts of XLMTM. The results of this survey will be published and shared with the XLMTM community, and could be shared with health policy makers and insurance companies to support patient access to future treatments.  Initially the survey is live for US-based families, with UK and German versions coming soon.  They have asked us, along with other patient advocacy organizations, to help share the following information:

Family and Caregiver Economic and Quality of Life Impact of XLMTM Study
Audentes Therapeutics, Inc. recently hired Precision Xtract, an independent consulting company specializing in conducting health outcomes studies, to field a non-interventional (meaning no investigational product is given) study of parents and caregivers of children with XLMTM.  This study will collect information about the experiences of XLMTM families and other caregivers in caring for XLMTM patients via an anonymous, internet-based survey.  Parents and caregivers of XLMTM patients that are living or that have passed are eligible to participate. The goal of this study is to create a more thorough understanding of the quality of life and economic impact of XLMTM on families and caregivers.  Upon completion of the study, the results will be published and shared with the XLMTM community.  In addition, summary results could be shared in the future with health policy makers and insurance companies to support patient access to potential treatments.

If you are interested in participating, please follow the link at the bottom of this page.  More detailed information about the study, who is eligible to complete the survey and important privacy and consent information are available via this link.

Your privacy, and that of your child, is of the highest consideration for the conduct of this study and the sharing of its results.  At no time will your child’s identity, your identity, or any individual patient or caregiver information be shared publicly, or in any way that can be directly linked to you or your child.
Since you all lead very busy lives, the survey is designed so that it may be started and paused so that it may be completed in multiple sessions, if desired.  The entire survey is intended to take no more than one hour in total time to complete.  Your support of this study is much appreciated and will provide important insights on the quality of life and economic aspects of XLMTM.
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CLICK HERE FOR LINK TO SURVEY


***Update 11/26 regarding mobile access to the survey***
The Issue:
We have heard that individuals using mobile devices and tablets (or do not have access to the spreadsheet application), have had challenges in completing the study, specifically the EQ-5D portion.
 

• While the majority of the study was crafted specifically to the issues facing the XLMTM community, we had also included the brief, non-XLMTM specific EQ-5D quality of life instrument, a broadly validated and expert-recognized quality of life instrument.
• The EQ-5D is being used under license, and the developer of the survey has specific requirements in how the questions in the instrument are to be shared visually with respondents, which required the downloadable file to respond to this specific section of the study.

 
The Solution:
We have reprogrammed the study so that it can be completed on mobile devices (in addition to laptop and desktop computers).
 

• Respondents will have the option of:
  1. Completing the EQ-5D if using a laptop/desktop with Excel, or;
  2. Opting-in to fill out the EQ-5D portion separately via brief phone interview by providing an email address below the EQ-5D portion within the study.
• As always, all responses will be kept anonymous and all personal information safeguarded as appropriate.
• This reprogramming is now complete and ready.