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MWSF Newsletter November 2022

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Mowat-Wilson Syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. MWS is caused by heterozygous variants in the ZEB2 gene. Its symptoms and severity can be quite variable and ongoing research is needed to better inform families, caregivers and health professionals.NOVEMBER IS NATIONALFAMILY CAREGIVERSMONTH! FAMILY OF THE MONTH UPCOMING EVENTSThe MWSF "Family of the Month " is the Brown Family! RUN FOR MWS Events! MWSF/RDMM Research ProjectGIVING TUESDAY, NOVEMBER 29, 2022NEWSLETTER - NOVEMBER 2022WHAT IS MOWAT-WILSONSYNDROME?IN THIS ISSUE: HIGHLIGHTS The mission of the Mowat-Wilson Syndrome Foundation (MWSF) is to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education.

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Hi everyone! My name is Paul Jacobi. Starting October 1, I became President of the Board of Directors. I am super excited to take on this responsibility even though I am following in the footsteps of Deborah Curry who did such a great job as President for a very long time. What do I want to accomplish? First, I really want to increase medical research grants in a big way. We recently provided grants of about $143,000 which is great. That is now our base from which we must expand. These grants provide real hope for finding ways to improve the lives of families dealing with MWS.Second, I am not a big fan of meetings. I want the Board to get closer to the people we serve. This is not easy given that MWS is a worldwide issue, and we all have limitations on money and time. Still, I love working with kids. I want the Board more personally involved if possible. The Board is different from what it used to be. It is now a mix of dedicated family members and true professionals with different areas of expertise. Everyone has so much to contribute. We all need to have a personal stake in making a difference.There is a lot more I can say, but this is good for now. The key word is “WE”. We are a team. We all need to work together to make lives better for people dealing with MWS. FOLLOW US!Board President, Paul JacobiExecutive Director, Jodi Franke-YoungA message from our MWSF Board President and Executive Director Hello! I am thrilled to have joined the MWSF team, starting in May2022. I have shared my passion as a nonprofit professional for over25 years leading nonprofit organizations and programs specificallyfocused towards supporting and advocating for the disabilitycommunity. I am excited to continue my work in serving MWSfamilies, by striving to increase awareness, secure funding tosupport research efforts and expanding our reach of servicesthrough innovative initiatives. I am thankful for the opportunity to be a part of this wonderful organization. As we enter into theholidays, I wish you all a safe and magical season!

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#RunForMWSWe would like to thank all families, friends, supporters ,volunteers, sponsors and donors for your efforts in making thethe 3rd Annual Run For MWS awareness and fundraiser campaign a huge success! We estimate that together we will raise around $35K!!!

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M E E T T H E R E S E A R C H E RProfessor Jody Jonathan HaighAwarded Research Project Mowat-Wilson Syndrome (MWS) is characterized by distinctive craniofacial abnormalities, mental retardation, gut motility issues and multiple congenital abnormalities of the heart, genitals, brain andeye. MWS is caused by damaging de novo heterozygous mutations in ZEB2 (SIP1/ZFHX1B), with most of these mutations leading to decreased levels of functional ZEB2 protein. ZEB2 is an important transcription factor that controls gene expression programs and epigenetic signals that are essential for the normal development of many of the organ systems outlined above. The project aims to model aspects of MWS in the mouse by using a combination of novel genetic tools. These tools will enable a patient-specific MWS ZEB2 mutation to be expressed globally in the developing or neonatal mouse or in a cell/tissue specific manner during development. This mutation can be combined with global or cell/tissue specific loss of ZEB2 to recreate all or just some of the various organ defects observed in MWS patients. These models will shed new light on the role of ZEB2 mutations in the developmental defects observed in MWS patients and offer a greater possibility of testing new compounds that can ameliorate some of the more severe developmental defects observed in MWS patients.Professor Jody Haigh, Co-Director of Research (acting) / Senior Scientist / Head of PDX Platform CancerCare Manitoba Research Institute (CCMR) Department of Pharmacology and Therapeutics Rady Faculty of Health Sciences / University of Manitoba. Mowat-Wilson Syndrome Foundation partners with the Rare Diseases Models and Mechanisms Network (RDMM) to co-fund a selected Research Project benefitting individuals with MWS! The Rare Diseases: Models & Mechanisms Network, has been established to catalyze connections between people discovering new genes in patients with rare diseases, and basic scientists who can analyze equivalent genes and pathways in model organisms. Catalyst Grants fund projects that will allow rapid confirmation of potentially disease-causing genes, and fuel pilot studies to improve understanding of how specific gene mutations cause disease. It is intended that collaborations across the Canadian biomedical community will expedite the understanding of disorders, enabling the design of new therapies to the ultimate benefit of those affected by rare diseases. More information about RDMM >

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November is National Family Caregivers Month If you’ve ever been the primary caregiver for a child, parent, spouse or another relative or friend, you already know why National Family Caregivers Month is so important. About 66 million aging Americans need care, and who better to provide it than a loving family member? Love is powerful, but caregiving is tough. In fact, it might be one of the most difficult healthcare roles of all. The days are long, the work is often undervalued and underpaid, and our family members don’t always appreciate the emotional and financial toll it takes to provide care for our loved ones. National Organization for Rare DisordersNational Alliance for CaregivingRare is CommunityUS Department of Health and Human Services Office of Women’s HealthNational Respite Network and Resource CenterIdentifying resources for supporting your caregiving journey can be daunting. Below are some that we hope will help: The Mowat-Wilson Syndrome Foundation salutes our family caregivers!

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Our story began August 2017 when we found out we were expecting. Our family was so excited to add another child to our family. Our daughter’s motherly instincts immediately kicked in telling me how to take care of my body for a healthy pregnancy, making plans for the new baby and choosing baby names, toys and clothes. Amelia, Austin’s older sister, was 9 at the time. We agreed to non-invasive genetics testing, which screened to see if our child was at risk for inheriting certain genetic diseases.We got the screening back and were grateful that we were in the clear. Our child’s risk was low. We were also able to find out that we were expecting a boy! At our 20-week anatomy scan my husband had to be away for work...AUSTIN'S STORYby Mallorie Brown (Austin's mom)READ ON Are you interested in submitting your storyfor "Family of the Month"? Contact us for more information

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Nov 29, 2022Together we give.GivingTuesday is a global generosity movement unleashing the power ofradical generosity. GivingTuesday was created in 2012 as a simple idea: a daythat encourages people to do good. Since then, it has grown into a year-round global movement that inspires hundreds of millions of people to give,collaborate, and celebrate generosity. Consider donating to the Mowat-Wilson Syndrome Foundation!

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NOVEMBER FUN DAYSNovember 1st – 2nd – Day of the Dead. A traditional Mexican holiday, Dia De LosMuertos spans two days and ends at noon on November 2nd.November 3rd – Cliché day November 6th – Daylight Savings Ends, U.S.A. November 6th – 12th – Dear Santa Letter WeekNovember 8th – Election Day, U.S.A.November 8th – STEM/STEAM Day. If you’re in the STEM or STEAM worlds or work withchildren or education, this day is an opportunity you can’t afford to miss.November 11th – Veteran’s Day. Be thankful for those that served.November 15th – National Recycling Day aka America Recycles Day. No matter how yousay it, it’s all about taking care of our planet by reducing waste. November 19th – Family Volunteer Day November 24th --Thanksgiving DayNovember 28th – Cyber MondayNovember 29th – Giving Tuesday benefitting nonprofits around the world!Happy Holidays from MWSF!

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HELPFUL SHORTCUTSGet on the MWS MapSubscribe to email newsShop MWSF StoreVisit our Patient Portal

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