New Survey to Capture MWS Growth Data

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As of March 1, 2018, the Mowat-Wilson Syndrome registry has over 133 participants involved at varying levels with the three current surveys. With the launch of the Growth Data survey we hope to be able to provide the valuable information necessary for the development of Mowat-Wilson Syndrome specific growth charts.

Here are some comments from Dr. Margaret Adam about the Growth Data Survey:

“Individuals with Mowat-Wilson syndrome (MWS) frequently are small compared to other people their age. This means that when a provider tries to plot that person’s growth (weight, length/height, and head circumference) on typical growth charts, the person with MWS appears to be small. Sometimes the person seems very small or the person’s growth is not on the typical growth chart at all. When a person’s weight is below what is expected for age, physicians often become concerned that the person is not getting enough calories, and this can sometimes lead to unnecessary procedures, such as placing a feeding tube when a feeding tube is not needed.

For this reason, we hope to develop growth charts that are specific to individuals with MWS. Our goal is for these growth charts to be available for people of all ages and include weight, length/height, and head circumference. This will allow families and providers to know if the person with MWS is growing as expected. If, indeed, the person is not growing as well as expected for a person with MWS, then the provider could appropriately recommend treatment for the growth issues.

To make this project successful, we need to be able to collect information on growth from many people and over a range of ages, from birth to adulthood. Many families will be able to get this information from their primary care provider, since growth is measured at most doctor visits. We hope to be able to provide families and providers with this important information so that growth can be monitored appropriately.”

In order to share your child’s growth data you may need to contact the healthcare providers to request the information. Feel free to download the letter from the MWS Foundation explaining the reason for the request.  Once you have the data follow these steps:

  1. If you are already participating in the registry, you just need to sign in to access the surveys. If you have completed Survey #1 – Baseline Information, you will then be able to proceed directly to Survey #4 – Growth Data. It is not necessary to complete surveys 2 & 3 first.
  2. For those new to the registry, you will be required to complete an initial registration, establish your privacy settings and complete Survey #1 – Baseline Information before having access to complete the Growth Data Survey.

Click here to go to the MWS Registry to share your data

Your willingness to share data is vital to research and to gaining new knowledge about MWS. Because we don’t know what’s possible…

 

Full Press Release

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Research Article: Phenotype and Genotype of 87 Patients with MWS and Recommendations for Care

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This study , published by the American College of Medical Genetics and Genomics, analyses clinical data for 87 patients with a molecularly confirmed diagnosis of MWS, including 62 previously reported patients and 25 unpublished cases, and compared them with patients previously reported by other authors. The data  was obtained through collaborations involving clinicians from various countries. Such primary data have never been collated from a large cohort of affected individuals. In this article we present a comprehensive study of MWS features underlining a highly consistent phenotype for the disease, its genotype–phenotype correlations, and the phenotypic and clinical evolution taking place with age. The purpose of the article is to assist clinicians to identify the disease and to provide them with updated care recommendations for patient management.

Full article

Download in PDF format

 

Bringing Community Together with a MWS Approach to Life

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How the Sell family embraces their son’s Mowat-Wilson Syndrome

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Article by Kathy Bell, mother of Kevin

You don’t have to spend much time with a person who has Mowat Wilson Syndrome to figure out that his or her love for life is key to who they are as individuals and how they bring us together as a community.

As parents raising children with special needs, we often hear people remark with appreciation about how it takes a village to raise a special child. In our Mowat Wilson community, I think the opposite is also true. When we involve our children in the bigger world around them, the community benefits and learns from them as well.

People may get involved in one way or another out of kindness or a willingness to try something, but what often happens, as the relationship develops,  its richness is as beneficial to the community as it is the person with MWS.

No one teaches us that more than Christian Sell. Christian, a young man with Mowat Wilson Syndrome, is 25 years old. He lives at home with his mom and dad, John and Wendy. He loves to hang out with his brother Justin, who is his biggest advocate.  The love between them is obvious to anyone who meets them.  Their relationship is a model for any siblings. The bond they share is one we see frequently with our MWS siblings.

Many of us met Christian at the Mowat-Wilson Syndrome Foundation Conference in Washington DC last June. Christian sang a Beatles song with Justin and  his cousin Kathlynn, who was at the conference speaking to us about music therapy.

If you were there when Christian sang, you know there wasn’t a dry eye in the house!  Christian’s speaking and singing words were remarkable and it certainly gives us hope that our kids “will get there” one day too, but there was more to it. It was a familiar song sung in a group of people with common ground. The connection was strong.

After hearing Christian sing, I heard many people, myself included, talk about how their kids like to sing, with or without words.

Music is something Christian loves to share with his brother. I challenge anyone to watch Christian’s and Justin’s car karaoke and not laugh out loud!  Shared on our MWS facebook group, this YouTube video rivals any James Corden carpool karaoke episode. It shows a willingness of both brothers to live in the moment and share a simple pleasure.

I also admire Christian’s devotion to his local hockey team, the Norwich University Cadets. One of Christian’s first questions for anyone he meets is “do you play hockey?”  When I met Christian, he asked me and told me about his love of hockey.

Having attended almost every home game since 2000, Christian has developed a personal relationship with the team and its ever changing group of young men. Over the years, he has also become friends with hockey players on many opposing teams even going to watch games in Maine, New Hampshire and Massachusetts when his Norwich players are playing teams on which he has befriended players.  One of the local papers wrote a great story, highlighting his connection with the hockey community.

When Christian was hospitalized for 9 days with Sepsis pneumonia in early 2016 some of the NU team visited him in the hospital. During the visit Christian invited them to his house for a cookout.  Later that year, the entire team showed up at Christian’s house for a great day of food, fun and laughter!

I think that the relationship that Christian has with this team can be played out in one way or another in all of our communities. I realize this commitment happens with a lot of support from friends and family.

Over the years Christian and his family have become close friends with 1964 The Tribute, “Best Beatles Tribute on Earth” according to Rolling Stone Magazine. In January they will be attending their 50th concert in 20 years!  Here too, Christian has developed close friendships, not only with the band, but also many other people who also attend shows regularly.

This friendship is the foundation for a large Mowat-Wilson Syndrome Foundation fundraiser being held in Christian’s hometown of Barre, VT next May featuring 1964 The Tribute as the musical entertainment!

In the little bit I know about Christian, I see his appreciation for the simple things in life. His approach is beautiful and humbling in many ways. I think Christian reminds all of us to sing and cheer as loudly as we can and make the most of everyday. Take a look at the Sell’s slide show of their trip to Washington DC for the 2017 Mowat-Wilson Syndrome Foundation Conference. Let it inspire us all to get out there and participate in the world around us!

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John and Wendy Sell are board members of the Mowat-Wilson Syndrome Foundation.
They bring an incredible value to the Foundation and the MWS families. Feel free to contact them.

Mowat-Wilson Syndrome Foundation Awarded $10K, Food Network Chopped, Grand Holiday Prize

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The Mowat-Wilson Syndrome Foundation was the grand winner on Food Network’s Chopped on its Grand Holiday episode aired on December 5th, 2017. Chef Adam Greenberg, a three-time winner on Chopped, won the battle over three other undefeated competitors. What a great show! Adam chose the MWS Foundation to receive the $10,000 grand prize.

Adam’s sister, Katie Fineberg, is a director of the MWS Foundation and mother of Zoe.

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“Zoe is very special to me. She is one of four nieces and a nephew on this side of my family. Although Zoe has Mowat-Wilson Syndrome, she and I have a strong connection. I am inspired by her ability to love, laugh, and express how she feels with me. I’ve always spoken to Zoe as if she is just like everyone else I speak to, and she always knows how to get what she wants. As a family, we all wanted to learn about Zoe and understand what was ahead, and I think what we’ve all gotten back in return is far more valuable than anything we could have imagined. She is pure love.”

We want to congratulate Chef Adam for winning such an amazing challenge and thank him for choosing the MWS Foundation.

If you are in the Washington DC area, don’t miss Chef Adam’s Coconut Club located at 540 Penn St., NE Washington DC 20002 opening in the Summer 2018.

 

 

2017 Conference Workshops Now Available on YouTube

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We had eight great workshops at the 2017 Conference in Washington DC. Here are the slides and the audios.Feel free to share!

2017 International Family Conference Feedback Survey

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Thank you to everyone who completed the Foundation survey to provide feedback for our 2017 conference in Washington, DC. Over half of the attending families responded with details of what they liked and what could be done better. We will keep all of your statements in mind as we prepare for future events.

We asked for 3 things you learned at the conference that will help you to care for your MWS child. Not surprisingly, there were certain themes repeated:

  •  #1 response – Communication and Learning was mentioned by 20 respondents. We learned about devices, learning and teaching techniques, and most importantly to assume intelligence believing that your children can learn AND express themselves. Give them time, and don’t give up!
  • #2 response – Bowel Management was mentioned by 14 respondents. Hope for progress in this area is universal. Every MWS family has a few memorable poop stories, and we learned that it is possible to make headway with bathroom training. This is truly a quality of life issue for all.
  • #3 response – Seizures were mentioned by 12 respondents. We learned about testing for ESES, seizure medications, signs of seizures, and consequences of seizures for sleeping and cognitive processes.
  • #4 response – Music Therapy was mentioned by 6 respondents. While we all know our MWS kids enjoy music, it was enlightening to learn about the therapeutic value of musical activities.

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In a category unto itself were responses of feeling a part of a bigger family, having an understanding community, and not feeling alone with the struggles of MWS. The fellowship with other families who experience the same challenges brings so much hope to our lives!

The favorite parts of the conference were Interactions with other MWS families, the Workshops, and not surprisingly, meeting Dr. David Mowat and Dr. Meredith Wilson, our namesakes. We received mostly favorable responses on the conference cost relative to the value received. The Foundation calculates that it covered approximately 60% of the total conference cost from accumulated donations, which relieved some of the family expenses.

Many of you expressed willingness to serve on the Board of Directors in the future, which is much appreciated!

In the category of what could have been better we received many comments that parents of adults with MWS have some unique topics of interest that could be addressed. Also, the feedback was good regarding the Sibling Seminar, but the younger siblings could have benefitted from a special event for them as well. And finally, facilitated, structured discussions between parents who can share experiences with each other (as opposed to only being presented to) would be valuable.

The Mowat-Wilson Syndrome Foundation Board of Directors takes all of your feedback to heart. We were delighted with the attendance and enthusiasm for the conference, and feel that many strong friendships and bonds were formed. Thank you for your comments and suggestions, and we look forward to seeing you again!

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Television interview helps families find Mowat-Wilson Syndrome

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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.

II Annual Houston Rare Disease Day

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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.

Mowat-Wilson Syndrome Foundation Joins the Global #GivingTuesday Movement Pledges to continue to support this rare community and their families.

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rebecca-2016-cropped-smLas 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

About #GivingTuesday

#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.

To learn more about #GivingTuesday participants and activities or to join the celebration of giving, please visit: Website: www.givingtuesday.org Facebook: www.facebook.com/GivingTuesday

Twitter: twitter.com/GivingTues