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MOEBIUS SYNDROME FOUNDATION NEWS Fall 2017

Call for MSF Board of Directors 2018 Moebius Syndrome Foundation Conference Research Update Mighty Moebius Campaign


Moebius Syndrome Foundation PO Box 147 Pilot Grove MO 65276 Phone: 844-MOEBIUS info@moebiussyndrome.org www.moebiussyndrome.org

Moebius Syndrome Foundation Issues Call for Nominations for Board of Director Positions

Our Mission The mission of the Moebius Syndrome Foundation is to provide information and support to individuals with Moebius syndrome and their families, promote greater awareness and understanding of Moebius syndrome, and to advocate for scientific research to advance the diagnosis and treatment of Moebius syndrome and its associated conditions. Executive Director Kim Cunningham kim@moebiussyndrome.org Moebius Syndrome Foundation Board of Directors Vicki McCarrell President Matthew Joffe Vice President Marcia Abbott Secretary Jacob Licht Treasurer Roland Bienvenu Kathleen Bogart Kevin Smant Monica Woodall Emeritus Lori Thomas Moebius Syndrome Foundation Scientific Advisory Board Elizabeth Engle, MD Boston Children’s Hospital Harvard Medical School Boston, MA Ethylin Wang Jabs, MD Icahn School of Medicine at Mount Sinai New York, NY Marilyn Miller, MD University of Illinois Chicago, IL Richard J. Redett, MD Johns Hopkins Hospital Baltimore, MD Rhonda Robert, PhD University of Texas MD Anderson Cancer Center Houston, TX Wendy Roberts, MD Integrated Services for Autism & Neurodevelopmental Disorders Toronto, Ontario Sara Rosenfeld-Johnson, MS, CCCSLP Innovative Therapists International Charleston, SC Ronald M. Zuker, MD The Hospital for Sick Children Toronto, Ontario Moebius Syndrome News Kim Cunningham, Editor Graphic Design Natalie Abbott newsletter@moebiussyndrome.org The Moebius Syndrome News is published two times a year. Articles, photographs, questions and comments welcomed. The Moebius Syndrome News reserves the right to edit submitted material. Opinions expressed in the Moebius Syndrome News are each author’s and do not reflect that of the Moebius Syndrome Foundation or the Moebius Syndrome News. The newsletter is on the website at: www.moebiussyndrome.org © Copyright 2017. The Moebius Syndrome Foundation. All rights reserved.

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Our Mission The mission of the Moebius Syndrome Foundation is to provide information and support to individuals with Moebius syndrome and their families, promote greater awareness and understanding of Moebius syndrome, and to advocate for scientific research to advance the diagnosis and treatment of Moebius syndrome and its associated conditions. Focus on Foundation Leadership

The Moebius Syndrome Foundation has seen tremendous growth in recent years. Since its beginning in 1994, the Foundation has grown from a handful of individuals and families living with Moebius syndrome to more than 3,000 worldwide. The foundation hosts conferences every two years and provides extensive support and resources for the Moebius community. It is our hope that families and individuals find the support they need. We offer networking opportunities, education, resources, updates on scientific advances and most importantly, a home. Service on the Board of Directors is an opportunity to help drive the organization forward. It is a chance to grow personally and professionally. You will develop skills, gain unique experience and make lasting connections with a team of other passionate and motivated professionals. This is an exciting time to join the leadership of the Moebius Syndrome Foundation. Candidates must be able to: Be passionate about supporting the Moebius syndrome community, Serve a three year term, Attend all board meetings (4 each year, including one in person), Become knowledgeable about the activities and business of the Moebius Syndrome Foundation, Read and understand the bylaws, Attend the Moebius Syndrome Foundation Conference and serve as an ambassador/volunteer at the event,

Vice President: Matthew Joffe Matthew S. Joffe wants to educate the world about people with differences. He is currently Director, Education and Outreach and a Wellness Counselor in the Wellness Center at LaGuardia Community College/CUNY. He also the college’s ADA/504 Compliance Officer. His background includes educational therapy, psychotherapy, and alcohol and chemical dependency counseling. He is currently completing certification as a life coach. An actor and published poet, he has appeared in Inside/Out: Voices from the Disability Community and performed and co-wrote two original plays with the Inner Faces Players. Matthew has appeared in several documentaries about Moebius syndrome.

Assist with fundraising activities, Other duties necessary to maintain the organization, Help lead the nation’s oldest and largest organization dedicated to supporting the Moebius syndrome community. The Call for Nominations has been extended to December 20, 2017 at Midnight EST. The Application must be typed (no handwritten documents will be accepted) and returned by email to kim@moebiussyndrome.org. All attachments must be included in ONE email.

Photo by Rick Guidotti


A Letter from our President Dear Moebius Syndrome Family, Warm fall greetings! We’ve had a busy, successful year in the Moebius Syndrome Foundation thanks to all of you. We add at least 100 new individuals/families to our mailing list every year, so we now have over 3,000 people affected by Moebius syndrome on our networking list, making our foundation one of the larger rare disorder organizations in the USA. For some organizations the disorder is so rare there are as few as 15 people identified. There are 7,000 rare disorders which affect 10 percent of the population, meaning there are 30 million individuals living with rare disorders in the USA. I was honored to represent you all at the NORD (National Organization for Rare Disorders) Summit in Washington DC last month, and as the Chairman of the NORD Board Membership Committee, gave an opening welcome to 90 dynamic foundation leaders on October 15 at the Membership Meeting. The majority of the organizations were formed by individuals with rare disorders or their parents – like us! Mike Porath, Founder and CEO of TheMighty.com gave the Community Keynote Address. I urge you to submit stories about living with Moebius syndrome on The Mighty. Scott Gottlieb, MD, Commissioner of the FDA, gave the Keynote Address. There were many ‘heavy hitters’ at the Summit and I was thrilled that most of the people I spoke with geneticists, NIH staff, and Rare Disease Scholars at the NIH, were aware of Moebius syndrome. We’ve come a LONG way in the last 25 years! One of our goals is to work with our Scientific Advisory Board to develop an online Continuing Medical Education webinar to educate physicians and medical professionals about Moebius syndrome. Warmest wishes for a blessed holiday season. We look forward to seeing you at the conference in St. Petersburg, FL, July 20-22, 2018.

Vicki McCarrell with NORD Director Peter Saltonstall and Membership Director Debbie Drell.

November 2017 Vicki McCarrell President Moebius Syndrome Foundation

A Letter from our Executive Director Dear Friends, As the holidays approach, I would like to take this time to thank all of the amazing members of the Moebius community. Working with those that share ideas and believe in bettering the community make my job worth doing. Conference planning is underway and I would like to thank our planning committee members for their time and creativity. We are all excited for July 2018! We understand that the conference is a large expense for families and we are excited to announce that we will be offering even more scholarships this year for first time attendees. Beyond that, there are multiple other avenues for those looking to fundraise for their conference expenses. Please reach out to us so that we can help you brainstorm. The conference hotel is very nice and we have worked hard to negotiate a room rate that equals that of the last conference. Please book within the Moebius Syndrome Foundation room block to receive that discount. The Moebius Syndrome Foundation Board of Directors is currently accepting applications - this deadline has been extended to December 15th. The application is available on our Website www.moebiussyndrome.org. This has been an exciting year and we thank you for your support. In the coming year, we will increase funding for educational scholarships, conference travel stipends, increase our commitment to funding research and will host even more regional events across the country. If you have any ideas, please reach out! Sincerely,

Kim Cunningham Moebius Syndrome Foundation News November 2017

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Research Update Moebius Syndrome Research Consortium announces the genomic cause of Carey-Fineman-Ziter syndrome With financial support from the Moebius Syndrome Foundation and the National Institutes of Health, on July 6, 2017, an international team of researchers including our Scientific Advisory Board members Elizabeth Engle, MD, Phd at Boston Children's Hospital affiliated with Harvard University, and Ethylin Wang Jabs, MD, Ichan School of Medicine at Mount Sinai in New York, in conjunction with Irini Manoli, MD, PhD at the National Human Genome Research Institute at the NIH, announced that they have identified genomic mutations for CareyFineman-Ziter (CFZS) syndrome. CFZS is often misidentified as Moebius syndrome as it causes facial weakness, a small or retracted chin, cleft palate and curvature of the spine (scoliosis) among other symptoms. The researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker, a protein necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) during the development of an embryo and the regeneration of muscle cells after injury. The study was published July 6, 2017 in Nature Communications. The study resulted from a 3 year effort by the Moebius Syndrome Research Consortium, whose goal was to learn more about the genetics and clinical characteristics of Moebius syndrome and other congenital facial weakness disorders. The consortium brought 63 people to the NIH Clinical Center affected with Moebius syndrome and other inherited facial weakness disorders and their families for detailed multi-system evaluations including brain and muscle imaging studies and muscle biopsies.  The researchers collaborated through the Opportunities for Collaborative Research at the NIH Clinical Center, a new funding mechanism that encourages intramural and extramural researchers to work together at the NIH Clinical Center.

Synopses of MSF-funded research Dr. Alan Tenney, PhD, a researcher in Dr. Elizabeth Engle’s lab at Boston Children’s Hospital, is conducting research on the way that facial motor neurons develop with the goal of understanding the formation of the facial motor system, and how it might be different in Moebius syndrome and related disorders. The Moebius Syndrome Foundation has provided $100,000 for Alan Tenney, PhD, as a Senior Postdoctoral Researcher at Boston Children's Hospital and Harvard Medical School. This included $50,000 each for 2016 and 2017. Dr. Tenney reports ‘This has been an exciting time for my work on Moebius syndrome in the Engle lab. Through collaboration with a group at the Broad Institute of MIT, I've identified the gene expression signatures of hundreds of individual developing facial motor neurons at a critical early period of facial motor map formation. Intriguingly, one of the 'hits' from my screen was also identified by Alessandro DiGioia, another postdoctoral fellow in the Engle lab, as likely altered in some cases of congenital facial paralysis. This validates our respective approaches, and I am confident that further analysis of the data will uncover a novel set of gene expression programs positioned to assemble facial motor circuitry. Moreover, I am hopeful that the combination of my knowledge of facial motor development and the Engle lab's expertise in human genetics of cranial nerve development will lead to a mechanistic understanding of Moebius syndrome.’ Dr. Irini Manoli is conducting a large-scale study of the geneotypes and phenotypes of Moebius syndrome and related disorders at the National Institutes of Health. This project will look for genetic markers of Moebius syndrome and their relationships to a variety of symptoms. 
 Drs. Ronald Zuker and Gregory Borschel at the Hospital for Sick Children in Toronto are conducting a project examining the effectiveness of surgical treatments of Moebius syndrome and its long term effects on quality of life.

According to Dr. Manoli, 'uncovering the cell-cell fusion deficits can lead to congenital myopathies and opens a new path of exploration for therapies for CFZS and other muscular diseases and tools for regenerating muscle. This rare genetic syndrome also provides novel insights into the effects of muscle development on craniofacial and skeletal bone formation.' CFZS is a muscular disorder causing weakness of the facial muscles, while Moebius syndrome is a neurological condition caused by the lack of the 6th and 7th cranial nerves causing facial paralysis. 4

MSF Board of Directors and Scientific Advisory Board, 2014


Mighty Moebius 5K Walk Sunday, November 12, 2017 Fort Knox, Kentucky

texas MOEBIUS SYNDROME AWARENESS DAY GATHERING JANUARY 20, 2018 Houston, texas NORTHERN CALIFORNIA MOEBIUS SYNDROME AWARENESS DAY GATHERING JANUARY 28, 2018 LAFAYETTE, CALIFORNIA

SOUTHERN CALIFORNIA MOEBIUS SYNDROME AWARENESS DAY GATHERING JANUARY 20, 2018 Santa monica, CALIFORNIA

Moebius syndrome awareness day JANUARY 24, 2018

Interested in hosting a regional event? Email us at info@moebiussyndrome.org or visit http://moebiussyndrome.org/support-resources/get-togethers/.  Moebius Syndrome Foundation News November 2017

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Pack Your Bags for Sunny Florida! Friday, July 20 - Sunday, July 22, 2018 The Vinoy® Renaissance St. Petersburg Resort & Golf Club Room Rate: $165/night http://moebiussyndrome.org/conference/ The Moebius Syndrome Foundation invites you to the 13th Moebius Syndrome Foundation Conference, to be held in St. Petersburg, Florida July 20 - 22, 2018. We heard your feedback and are extending the conference hours this year! Instead of beginning at noon on Friday, we will be starting in the morning so that we can include more speakers and more time together. The keynote presentation and official opening will still be at 1 pm, so if you can't join us in the morning, don't worry! 


Whether you are a first time attendee or have been to every conference since 1994, there will be a lot of new experiences and opportunities to learn. We have more speakers than ever before and topics that we've never addressed. In addition, we are focusing on a "hands-on" approach this year so get ready to pick up a paint brush or a pen for an exciting writing workshop. Some highlights that we're working on Welcome Social on Thursday evening (come meet new friends before the conference begins or connect with old friends) Dive-in movie in the pool Ice cream social Longer Just-For Sessions for moms, dads, grandparents, men, women, teens, and spouses A Scavenger Hunt around St. Pete An excursion to the beach

The Vinoy® Renaissance St. Petersburg Resort & Golf Club is a beautiful hotel, located right on the marina in St. Petersburg and Beach Drive, a street with many restaurants, cafes and shops. When the Vinoy opened in 1926, it quickly became one of the country’s most prestigious and coveted getaways for the world’s rich and famous families, along with Hollywood stars, celebrities, presidents and authors. Today, the Vinoy is one of St. Petersburg’s most spectacular waterfront resorts.   The resort was recently named as one of the “500 Greatest Hotels and Resorts in the World” by Travel & Leisure Magazine. And, readers of Condé Nast Traveler magazine have ranked The Vinoy as one of the “Best Places to Stay in the Whole Wide World.”

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Photos courtesy Rick Guidotti, The Vinoy® Renaissance St. Petersburg Resort & Golf Club, and Visit St. Petersburg/Clearwater


Registration will launch in February 2018! Childcare Childcare will be provided through KiddieCorp again in 2018. There will be a separate form and charge for this service available with the registration form. Scholarships We are excited to announce that more funding will be available for some first time attendees coming to Florida. For those in financial need, we will be providing $800 per family to cover the costs of registration, hotel and travel costs. We will be sharing an application in early 2018. 

Register by April 30th for early bird rates!

WANT TO HELP A FAMILY ATTEND THE CONFERENCE? Has the conference changed your life? You can make a donation to help a family attend the conference in St. Petersburg. Any amount will help and is appreciated!

Hosting a conference is a large undertaking and is very expensive. The Moebius Syndrome Foundation must pay for the hotel, meals, materials, speaker travel, A/V services, printing for the journal and many other items. We realize it is a large expense for families and in that vein, we try to keep the costs as low as possible. The registration fee that we charge attendees does not even come to close to covering the cost of all meals provided ($419 per person), never mind all of the other items. Attendees have access to the world's leading experts on Moebius syndrome and opportunities to meet with them during private consultations. The social events and networking bring us all together. This is an experience - well beyond just the meals. Please understand that we are not making money off of the conference - the opposite in fact is true - the Foundation pays about $250,000 to host the conference. Moebius Syndrome Foundation News November 2017

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MSF Represents Moebius syndrome at RARE Patient Advocacy Summit The Moebius Syndrome Foundation recently attended the 2017 RARE Patient Advocacy Summit in Long Beach, California. It was an amazing event, attended by almost 700 people. There were 187 diseases represented and over 100 sessions.   Educational sessions were held for organizations to learn more about hosting conferences, fundraising and increasing membership engagement. It was truly empowering to learn from other organizations and experts within the community.  Global Genes® is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon®. What began as a grassroots movement in 2009, with just a few rare disease parent advocates and foundations, has since grown to over 500 global organizations.

Foundation Board Member Research Focuses on Ableism Board member of the Moebius Syndrome Foundation and an Assistant Professor and Director of the Disability and Social Interaction Lab at Oregon State University, Kathleen Bogart, Photo by Rick Guidotti PhD, researches ableism, or prejudice and discrimination directed toward people with disabilities. People with disabilities are the largest minority group in the United States, and comprise about 19% of the general population.  Kathleen studies ableism from the perspectives of both the target and the perceiver. This research came from personal experience after she realized the stigma she experienced was not due to her specific diagnosis of Moebius syndrome, but was a result of ableism toward people with disabilities as a group. “Like any research on social or minority identities, it is very important that people with those identities are included in the research process, and the lack of social psychologists studying facial paralysis and disability in general motivated me to address this need,” Kathleen said. Kathleen’s early research centered on the stigma that people with facial paralysis experience because of their inability to express emotions with their faces, their unusual appearance, and having a rare disorder. 8

RARE DISEASE DAY February 28, 2018


THINGS THAT MAKE US GO BOO! HAPPY HALLOWEEN FROM THE MOEBIUS SYNDROME FOUNDATION

Call for Regional Coordinators A Regional Coordinator is a volunteer, non-paid position. We have five regions across the country and thank the 2016-2017 Regional Coordinators for all that they did to expand the structure of the organization and plan events around the country. This coming year, we hope to host even more events, providing all with an opportunity to meet in person on a more frequent basis than the conference. If you are interested in becoming a regional coordinator, please fill out the form below. We are looking for applicants that are willing to assist in planning events throughout their region. You do not have to host the event yourself. Applications are due by December 15, 2017. Your term will begin on February 1, 2018 and go through January 31, 2019. The application can be found and submitted online at  http://moebiussyndrome.org/apply-to-become-a-msf-regional-coordinator/

Moebius Syndrome Foundation News November 2017

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The Moebius Community is Mighty! The Moebius community is mighty! All proceeds benefit the Moebius syndrome community through scholarships, family conferences, informationsharing and research funding. Proceeds support family conferences, research and educational scholarships for the Moebius syndrome community. The Moebius Syndrome Foundation is the oldest nonprofit dedicated to Moebius syndrome and is a 501c(3) charitable organization. The MSF #MightyMoebius Campaign launched a second ordering period in November and December. T-shirts can be ordered at http:// www.customink.com/fundraising/msfmightymoebiuscampaign2. Check our website, social media, or email us at info@moebiussyndrome.org for more information.

The Home Town Rome Players group from Rome, Wisconsin has a mission to share talents as service to the Rome community. Each year they sponsor a "Rome 'n Fest" dinner theater for area charitable organizations. The show includes local dancers, singers, actors and actresses performing to a home-grown script. Alice Goeldner, who has Moebius syndrome, is a member of the group. As a tap dance performer, no one sees her disability. She works hard at learning the routines, and smiles with her heart. The group sent a $100 donation to the Moebius Syndrome Foundation in Alice's honor. They also purchased several books for children and adults for the local library on Moebius syndrome.  

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Thank you to all of our donors! Thank you to all of our donors! Because of your generous contributions, the Moebius Syndrome Foundation was able to award several educational scholarships in 2017, fund more than $156,000 in research projects which will help identify the Moebius syndrome gene(s) and financially support many regional events so that families across the United States could meet. The Moebius Syndrome Foundation is thankful for the amazing support it has received this past year and is excited for its plans in 2018. We will increase the research investment to $200,000, we will award even more educational scholarships, we are increasing the amount of money awarded to those who receive conference scholarships and we will be hosting even more regional events across the nation.  Thank you for your donations. It is with your generosity that we can continue supporting our mission: The mission of the Moebius Syndrome Foundation is to provide information and support to individuals with Moebius syndrome and their families, promote greater awareness and understanding of Moebius syndrome, and to advocate for scientific research to advance the diagnosis and treatment of Moebius syndrome and its associated conditions. From our donors IN MEMORY OF Bill Carney Lynn Rigoni Hannah Jade Devine Susan Knox Terrance Garbuzinski Linda McDaid Teddy Giegerich Marian & Frank Setzman Charles Griffith Linda Boling Bill & Helen Hoover Marvin Purcell Thomas King Mr & Mrs Chris Chandler Jason Chandler & Alexa Franklin & Family Mike & Julie Crall Charles & Karen Estridge Bob & Kathy Gobrecht & Family Mary Kemery Mary King Michael & Nancy Stover Laura & Daniel Westrich Dale & Joan Wolfe & Family Bobbie Krohn Ida Malki Kaylie Grace Lush Glenda Roberts Lush Burton Minow Mary Minow Helen Schwartz Janice Moudy Jerry Patricio June Smith Gwen & Sue Williams Allison Wolf Gabriel Shall Nancy Lueckhoff Jason Michael Tassi Scott & Diane Atchison Dr. Allen & Andi Blume Jim & Kathy Booher Daniel & Sandra Buss Robert & Cynthia Cramer Sharon Doolittle Catherine Dunning Jeanne & Paul Dwyer Scott Eidson RE & Jackie Eppert Linda Gann Chris Heck Steven & Lisa Jervik Kathleen Kelly Michael and Liesl Lucas Dr. Gary & Pam Luna Donald & Dana Medsker Samir Mehta David & Patricia Meyer Adrian & Janine Mohr Thomas & Barbara Parliman Thomas & Colleen Sanft John & Cindy Schildberg Mark Stanley Darcy Vik Jacob White John Karmen White Ken Wohlgemuth

Robert Tate Sharon Anich Linda Arroyo Joseph Conn Emily Deakins Barbara Donohue Jean Ecos Carol Fibich Friends & Family of the Tates Cindy Grady Pauline Hawkes John & Darlene Kadiac John Karner Kathy MacDonald Jeffrey & Lynn Mair Patricia Maley Leo & Beverly Malkasian Jane Miller Valerie Moloney Richard Mowery Mary Navin Mary Jo Nevermann Ann Rumpf Arthur & Joyce Rumpf Marilyn Schultz Patricia Scott Wendell Sgendorf Dorothy Tate Jeff Wegner Marie Weiss IN HONOR OF Natalie Abbott Marcia & Wayne Abbott Kimberly Banning Cheryl & David Banning Ben Becker George & Linda Becker Roland Bienvenu Anne B Broussard Ava Buck Margo & Charles Ramsey Addison Garvey Michael & Victoria D’Antuono James Garvey Jennifer Garvey Ethylin Wang Jabs, MD Christine Macleod Geraldine McManus-Obrien Judith O’Daly Laura Pate Van Buren Buick Alice Goeldner Home Town Rome Players Jordan Hegel Steve & Van Hegel Ione Idell David Idell Addison James John Goshorn Matthew Joffe Laura Greenwald & Arkady Teila Kelsey Kieger Adam Tank Karen Kyle One Toyota of Oakland

The Moebius Syndrome Foundation received $129.50 from Mariska Ropog, a little girl whose cousin has Moebius syndrome. Mariska had a lemonade stand to generate funds. Thank you so much! Licht Family Bobby & Chelle Medow Becky & Jessica Maher Novartis Ida Malki Roberta Gordon Dominic Nelson Gina Alvino Kacie & Kevin Nievesmassol MGA Home Healthcare Colorado Kevin Nievesmassol Coby & Priscilla Bartram JP Fisher Curtis & Haley Garcia Tom & Charmaine Laughlin Kacie Nievesmassol Robert & Lorie Poillucci Janet Rothe Elizabeth Schaiberger Madeline Schecter Todd Stobie Carolyne Sweeney The Chuckwagon Matthew & Trudelyn Thuring ZOE Holding Company Inc. Khaleb Phillips Kiowana Phillips Deacon Ken Ramsey Batavia Brotherhood Banquet Cmte Allison Mayfield Ray Barbara Dreier Elizabeth Mayfield & Gary Frier Grace Rohde Lauren Rust Mathias Santana Pablo Melendez Elena Trecanao Cecilia Oh Mary Olsen Yvette Yeager Allison Mayfield Ray Elizabeth Mayfield Gary Frier Barbara Dreier McKinley Ray Miroslana Lipsky Heather Wolford Jessica Shoemaker Kendall Washer Mitch Washer Kylie Vander Veer Gary & Carleen Wargowsky Carter West Nina & Carlton West Michael & Kelly West Daktoa’s Lemonade Stand John & Janet Mitchell Mariska Ropog Martina & Todd Ropog OTHER DONATIONS Anonymous Amazon Smile Benevity Community Impact Fund Concho Valley Electric Cooperative Sally Conway Noah French Gina Gee Joseph Haschka Jennifer Kaczor Douglas C. Koch Mary T. Lerner Anthony & Cathy Massoni Network for Good Eric Polk Precision Castparts Corp. Pamela Spiegl Mark J. Sullivan United Way Metro Chicago

Moebius Syndrome Foundation News November 2017

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Happy Holidays from the

Fall 2017 MSF Newsletter  
Fall 2017 MSF Newsletter  
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