2016 was an exciting year for the Mowat-Wilson Syndrome Foundation. Take a few minutes to download and read our 2016 Annual Report.
With the approach of Rare Disease Day on February 28th, Al Triunfo, a member of the MWS Foundation Board of Directors, began contacting local news organizations in the Atlanta area in early January. He wanted to see if any of them were planning to run a story related to Rare Disease Day. After numerous emails and phone calls which seemed to go nowhere, Al was finally able to generate interest from the health team at Fox5 Atlanta to run a story about his 7 year old grandson, Logan, who was diagnosed with MWS at 10 months of age. The hope was that Logan’s story would help increase awareness about rare disease in general and specifically about MWS. The Fox5 team filmed footage of Logan and his parents, Jackie and Olin Arnold, at their home in Marietta, Georgia. They also interviewed Dr. Jose Garza, Logan’s pediatric gastroenterologist at Children’s Healthcare of Atlanta. The end result was a news story that highlighted the emotions and challenges that families face when they know something is wrong but don’t have any answers. It was also a message of hope. Hope because answers can be found and with a diagnosis, there is a huge MWS community ready to share their love and support.
Fox5 Atlanta aired the story on February 27, March 1 and March 4, and it was quickly picked up by several other Fox stations around the country. The story also spread on Facebook and websites like LittleThings, VonVon, Simple Reminders, and Adalia Rose. Additionally, a handful of celebrities, including Real Housewives of the OC, Tamra Judge, shared it on their personal Facebook pages. The video has over 50K views in its full and shortened versions. The awareness is already impacting our MWS community tremendously. There have been 5 situations of families seeing the story and contacting us with hopes of a potential diagnosis that was previously unrecognized by themselves or physicians.
The Foundation wants to thank the Medical Team at Fox5 Atlanta, Dr. Garza and of course, the Arnold family. We are so proud of Jackie and Olin for their willingness to share their personal story so that others might find answers and support.
By Karen Baer, Mowat-Wilson Syndrome Foundation Secretary
Houston celebrated its Second Annual Rare Disease Day Event on Saturday, February 25, 2017 at the United Way Building near downtown Houston. This was the second year for The Mowat-Wilson Syndrome Foundation to participate. Karen Baer, Secretary of the Mowat-Wilson Syndrome Foundation, her husband, Michael, and niece, Stephanie Holleran manned the exhibit and answered questions for four hours. The venue provided a great opportunity to network with other people working in non-profit organizations for rare diseases. Medical students, genetic counselors, families with special needs kids and the general public attended the event. The Baylor College of Medicine Department of Genetics and the Genetics Department of Texas Childrens’ Hospital provided two lectures to interested parties during the course of the event. The event was very well attended.
Many people stopped to ask questions about MWS and how it affects our kids.We had handouts about MWS and also about our new Patient Registry. Along with a poster board of generic facts about MWS, there was also a picture board depicting “Addison’s Story.” So many of the parents that stopped to chat could identify with our kids!!
There was a door prize awarded to a lucky person who completed the scavenger hunt questionnaire and was drawn as the winner. The question we provided was “What is the gene that is responsible for the symptoms associated with MWS?” Answer: ZEB2 (of course we know that!) But now so does everyone who came to check us out! How? Because we had this huge ZEBRA in our display!!
I did learn a lesson from doing this for the second year—Last year we had hundreds (ok, I’m exaggerating, but it seemed like it) Lindt chocolate truffles for guests to partake when they came to see us. Since we were at the end of the line last year, everyone had eaten too much candy already (from the other tables), so I had a lot to bring home. And, you guessed it—I finished every last one! So, this year, no candy at our table. We did sparkly clothespins to catch everyone’s eye. And I haven’t had to eat one yet! It’s a pleasure serving you all on the board. Raising awareness of MWS is one of our missions and I believe that participating in this event helped to fulfill this goal.
The Mowat-Wilson Syndrome Foundation is pleased to report on the significant progress being made with the Mowat-Wilson Syndrome Patient Registry. The registry was launched back in November, 2016. Here is what Dr. Margaret Adam said at the time.
“As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition. Therefore, to further our knowledge of the breadth of the condition requires engagement of the involved community and a platform in which information can be securely and accurately entered and curated. This in turn will allow expert clinical researchers to extract important information and identify rare complications that will aid physicians who care for individuals with MWS.”
A recap of the participation data through January 31, 2017 shows:
- 64 Registrations
- 50 Background surveys completed and 6 in progress
- 47 Maternal Information surveys completed
- 24 Genetic Information surveys completed and 20 in progress
- Information shared from individuals in 11 different countries
The MWS Foundation wants to extend a big “thank you” to those who have gotten involved in the process of sharing their data. We also want to ask that if you have started the process but have not completed any of the first 3 surveys to please do so. Our plan is to begin adding additional, condition specific, surveys with the next few months. The first 2 of those additional surveys will be for Gastrointestinal issues and seizures.
If you have not yet begun the process, we ask that you please consider getting involved by sharing your data…Because we don’t know what’s possible.
Director, Mowat-Wilson Syndrome Foundation
The MWS Foundation had been looking for some student volunteers to help with the design and conversion of our website to a new platform. We were able to make contact with Professor John Thacher at Gwinnet Technical College in Atlanta Georgia. Professor Thacher runs an upper level class that puts students in his class in contact with organizations seeking website development help. It also provides an opportunity for students to gain some “real world” experience with clients. The Mowat-Wilson Syndrome Foundation was given the opportunity to work with 3 students, Bethany Wheeler, Loius Zehner and Lisa Kwok during this past fall semester. The team worked closely with board members Laura Chrysostomo and Jessica Rakshys on a variety of assignments involving the new Mowat-Wilson Syndrome Foundation website.
On Thursday, December 1st, the team gave a presentation of their work to classmates and professors at the school. The project work and presentation are part of their final grade in the course. Al Triunfo from the Mowat-Wilson Syndrome Foundation was in attendance. The students had provided some much needed help to the Mowat-Wilson Syndrome Foundation and did very well in the class presentation as well. Much recognition was provided to the students and Professor Thacher for providing this kind of program which helps the community as well as the students. The Mowat-Wilson Syndrome Foundation was also recognized for creating a great partnership. Laura and Jessica also received wonderful acknowledgment from the students for providing them with additional knowledge and experience.
The Mowat-Wilson Syndrome Foundation again thanks Bethany, Louis, Lisa and Professor Thacher for helping us achieve our goal of launching the new and improved Mowat-Wilson Syndrome Foundation website.
Las Vegas, NV November 14, 2016 – Mowat-Wilson Syndrome Foundation has joined #GivingTuesday, a global day of giving that harnesses the collective power of individuals, communities and organizations to encourage philanthropy and to celebrate generosity worldwide. Occurring this year on November 29, #GivingTuesday is held annually on the Tuesday after Thanksgiving (in the U.S.) and the widely recognized shopping events Black Friday and Cyber Monday to kick-off the holiday giving season and inspire people to collaborate in improving their local communities and to give back in impactful ways to the charities and causes they support.
The Mowat-Wilson Syndrome Foundations joined this movement in order to fund a number of initiatives that support this rare community and their families. All gifts will support:
- The 2017 MWSF International Family Conference in Washington, D.C.
- The Foundation to continue to be a conduit for multiple MWS research studies.
- Family gatherings and events different locations.
- Start our outreach program for newly diagnosed families with MWS.
92Y − a cultural center in New York City that, since 1874, has been bringing people together around its core values of community service and giving back − conceptualized #GivingTuesday as a new way of linking individuals and causes to strengthen communities and encourage giving. In 2015, the fourth year of the movement, #GivingTuesday brought together over 45,000 partners in 71 countries and helped raise nearly $117 Million online in the US alone.
“We have been incredibly inspired by the generosity in time, efforts and ideas that have brought our concept for a worldwide movement into reality,” said Henry Timms, founder of #GivingTuesday and executive director of 92Y. “As we embark on our fifth year of #GivingTuesday, we are encouraged by the early response from partners eager to continue making an impact in this global conversation.”
About Mowat-Wilson Syndrome Foundation
The mission of The Mowat-Wilson Syndrome Foundation is to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education.
To learn more about the Mowat-Wilson Syndrome Foundation, please visit: Website: www.mowat-wilson.org Facebook: www.facebook.com/Mowat-Wilson-Syndrome-Foundation
#GivingTuesday is a movement to celebrate and provide incentives to give—the 2016 iteration will be held on November 29, 2016. This effort harnesses the collective power of a unique blend of partners—nonpro ts, businesses and corporations as well as families and individuals—to transform how people think about, talk about and participate in the giving season. #GivingTuesday inspires people to take collaborative action to improve their local communities, give back in better, smarter ways to the charities and causes they celebrate and help create a better world. #GivingTuesday harnesses the power of social media to create a global movement dedicated to giving around the world.
The Mowat-Wilson Syndrome Foundation is extremely pleased to announce that we are the recipient of a grant thru Genetic Alliance to establish a MWS patient registry! We will be using their Platform for Engaging Everyone Responsibly (PEER) to build and house the MWS patient registry.
“Go Live” date for the registry is Monday, November 7, 2016
Dr. Margaret Adam, MD, who is a member of the Mowat-Wilson Syndrome Foundation Medical Advisory Board, will serve as the primary scientific advisor for the MWS patient registry. Dr. Adam is Professor of Pediatrics, Division of Genetic Medicine at the University of Washington in Seattle, WA. Here is what Dr. Adam had to say about the registry.
“It is with great pleasure that I write this letter in support of the partnership between the Mowat-Wilson Syndrome (MWS) Foundation and the PEER platform. As a clinical geneticist, I have had the opportunity to both care for individuals with MWS and to participate in clinical research projects to help further our understanding of this condition. As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition. Therefore, to further our knowledge of the breadth of the condition requires engagement of the involved community and a platform in which information can be securely and accurately entered and curated. This in turn will allow expert clinical researchers to extract important information and identify rare complications that will aid physicians who care for individuals with MWS. After reviewing the PEER platform, I feel that it is ideal for this endeavor. As a scientific advisor to the MWS Foundation, I look forward to working with them on implementing this platform and bringing it to the greater MWS community.”
PEER has received a number of awards and recognition including from the White House, Forbes Magazine and PCORI (the Patient-Centered Outcomes Research Institute).
Utilizing PEER to support our MWS patient registry provides some important benefits. Perhaps most important, it enables customization of sharing, privacy, and data access preferences. PEER puts decisions about sharing health information in the hands of parents or guardians. Some participants might decide to share everything with everyone, from medical records to contact information; while others might prefer to keep their data more private. PEER uses PrivacyLayer®, a technology service from PEER partner and technology provider Private Access, which allows individual decisions to be made concerning who can access their information. At present time, more than 30 communities and organizations are using PEER, and more than 10,000 people participate in it.
The process of participating in the MWS patient registry will be very user friendly. Each parent or guardian will be able to set up their own account. You will then enter health information through a number of different survey instruments. There is even a personal dashboard so you can track which surveys you have and have not completed. In addition, you have the ability to submit genetic test results and upload medical health records.
The registry is scheduled to launch Monday, November 7, 2016. If you are interested in learning more about PEER, please visit http://peerplatform.org/ or contact Al Triunfo, Director, MWSF at email@example.com
The Mowat-Wilson Syndrome Foundation is pleased to announce it was recently awarded a grant through Genetic Alliance, a leading nonprofit health advocacy organization, to establish a patient registry for individuals that have been diagnosed with Mowat-Wilson Syndrome (MWS). The grant will allow the Foundation to use Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) to build and house the registry.
The registry will facilitate the capture of key medical, genetic, treatment and demographic data for MWS patients. This in turn will allow expert clinical researchers to extract important information, study genotype correlations to clinical outcomes and it will aid physicians who care for individuals with MWS.
“As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition,” said Dr. Margaret Adam, Associate Professor of Pediatrics at the University of Washington Medical Center and member of the Mowat-Wilson Syndrome Foundation medical advisory board. “To further our knowledge of the breadth of MWS requires engagement of the involved community and a platform on which information can be securely and accurately entered and curated,” she said.
An important feature of PEER is that it is highly customizable and parents or guardians of MWS patients can set their own sharing, privacy and data access preferences.
The Foundation hopes to have the registry up and running by October 15, 2016 and is aiming to have 100 participants engaged with the registry within the first year.
MWS is a recently discovered syndrome (defined in 1998) and much is still being learned about the physical, behavioral and developmental issues associated with this rare genetic disorder. Major signs include distinctive facial features, intellectual disability, delayed development, intestinal disorders, seizures, congenital heart disease, agenesis of the corpus callosum, male genital abnormalities (hypospadias), and major expressive language difficulty. Most Mowat-Wilson children are non-verbal and experience delayed development of motor skills such as sitting, standing, and walking. Despite their many difficulties, MWS children typically have friendly and happy personalities, though they will require intense medical attention and personal care throughout their entire lives.
For more information on PEER click here.
For additional information, please contact Al Triunfo, Director, Mowat-Wilson Syndrome Foundation at firstname.lastname@example.org