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MWSF Newsletter March 2023

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The Mowat-Wilson Syndrome Foundation is pleased to announce the coming launch of its new patient registry. The registry will utilize the Across Healthcare Matrix platform. This is a platform many in the MWS community are familiar with since we have been using Matrix as a caregiver portal for maintaining information and medical records. The new Matrix Registry will replace our original PEER registry.As members of the MWS community, we all recognize how little is known about the syndrome. We also recognize how important data is to advance the knowledge base. The registry will continue to 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.An important feature of Matrix is that it is highly customizable and parents or guardians of MWS patients can control the information that they share.The new platform will include a much easier/user-friendly experience and better communication tools. It will also allow the upload of medical records, genetic test results, lab tests, etc. directly to the registry. This will be a major research advancement for our community.We will continue to provide additional information in the coming weeks. Watch for our updates!New MWS Patient Registry in Pre-Launch

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The Mowat-Wilson Syndrome FoundationEducation Committeestrives to fulfill the MWSF mission statement of AWARENESS and EDUCATION to enhance the lives of those living with MWS. We are responsible for the MWS Welcome Packets as well as the new MWS Awareness Campaign called Wisdom Wednesdays. Keep an eye on our social media pages for the new MWSAwareness Campaign, Wisdom Wednesdays! We will sharestories of MWS triumphs, struggles, successes andhardships. The Wisdom of MWS lies in the people. Join us!

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By Karissa (Maci's mom)Our journey began in 2015, when my husband and I found out we were expecting our second child. She was longed for and already loved from the very first moment! Our 2-year-old son, Jake, was so excited to become a big brother!Early, non-invasive genetic screening told us in the 1st trimester that our baby was at very low risk of having a genetic abnormality, and that we’d be having a little girl this time around! I started buying all the outfits and headbands then!At our 20-week anatomy scan, my OB told me that she couldn’t visualize all of the baby’s heart, but this was possibly due to positioning or limitations of the technology. We were referred to Maternal Fetal Medicine for a level II ultrasound the next week. At this appointment, we were told that our baby girl, Maci, appeared to have Hypoplastic Left Heart Syndrome—essentially, half a heart, along with two other more minor cardiac defects. Meet the Whisner Family and Maci's Story

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They told us that everything else appeared healthy on ultrasound. The doctor suggested an amniocentesis to check for the more common genetic syndromes associated with this heart defect. This would help us be more prepared for her birth. The amino later came back clear. It was believed, based on multiple in-depth scans and genetic testing throughout the pregnancy, that Maci was otherwise healthy.My pregnancy progressed mostly without issue, with the exception of some mild preeclampsia around the 7 month mark. At a check up at 37 weeks and 5 days, it was determined that the right side of Maci’s heart (her “good” side) was starting to enlarge, and she had stopped growing. My amniotic fluid was also low, and the preeclampsia was slightly worse. They decided she was “better out than in,” as she probably needed intervention for her heart before her health became any worse in-utero. I was induced, and on April 14th, 2016 at 1:59am, a 6lb 6oz Maci came into this world! She was beautiful, and thankfully, let out a big cry for us, which helped us feel like we had a determined little girl on our hands!As a nurse, one of the first things I noticed after her birth, other than Maci’s beauty and her blueness, was some unique facial characteristics. I told my husband that I thought she had a genetic syndrome, and once she was stabilized at the Children’s hospital, I requested a consult for a geneticist...READ ON

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LEARN MOREFUNDRAISER EFFORTSA Big thank you to the Triunfo/Arnold families!

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LEARN MOREFUNDRAISER EFFORTSA Big thank you to the Rock Town Racers!If your family is planning a fundraiser for the MWS Foundation let us know so we can highlight it!

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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.

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HELPFUL SHORTCUTSGet on the MWS MapSubscribe to email newsShop MWSF StoreVisit our Patient PortalFOLLOW US!

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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. DONATEBecause we don't know what's possible.RESEARCH. SUPPORT. HOPE