Meet the Researcher – Zoom Webinar Series

Join us on Thursday, October 7th, 2021 at 11 am Eastern time as we host researcher, Sumantra Chatterjee, a Research Assistant Professor at the Centre for Human Genetics and Genomics in NYU Grossman School of Medicine, New York. Sumantra has trained both as a developmental biologist and a human geneticist studying complex congenital diseases. His work on Hirschsprung disease uncovered how multiple genes and mutations are interconnected, which helped to explain the severity of the disease observed in different patients and help classify patients better.

 

You can register for this FREE event here

During the Zoom meeting, Dr. Chatterjee will provide a brief overview of this research and what it means for MWS patients and families. We will also have a question/answer period for anyone with specific questions.

2021 Run For MWS – Register Today!

Run For MWS

Virtual Fundraiser & Awareness

We would like to inspire families around the world to run for MWS as a form of raising awareness and fundraising for the MWS Foundation. Here are the steps:

  • Decide on the event type – single runner, a group run, a race in your town…
  • Pick a date during the month of October
  • Run any distance
  • Run anywhere
  • Fundraise – Facebook fundraisers are the easiest!

 

New #NeverGiveUpMug Now Available at the MWSF Store

The New MWS Mugs Are Here!

#nevergiveupmug

 

Start your day with a cup of tea or coffee and support the MWS Foundation. Our mugs are inspired by the #nevergiveup attitude of MWS children and their families.

For only $10 each, a set of mugs makes a very special gift for families, caregivers, office staff, etc. Help us raise awareness about MWS!

Product Features:

The 15 oz Ceramic mug features a modern design and comfortable grip handle with the Mowat-Wilson Syndrome logo on both sides.

Product Color: Dark Blue
Product Size: 5″w x 4-5/8″h

$10 each

 

Mowat-Wilson Syndrome Foundation Announces New Customized Patient Records Platform

New Patient Portal for MWS Community

Customized Health Records Platform

 

The Mowat-Wilson Syndrome Foundation announced today that it has entered into a partnership with Across Healthcare to use its Matrix rare disease platform to create a customized health records portal for Mowat-Wilson Syndrome (MWS) patients. Matrix was designed by Across Healthcare to help patients and caregivers easily capture, track, and share information related to medications, symptoms, activities, and electronic health records. The MWS Matrix Portal will simplify the process of tracking and maintaining easy access to these important health records for MWS patients. The platform has a mobile application and is very user friendly.

“We are excited to partner with the Mowat-Wilson Syndrome Foundation and offer the benefits that our Matrix platform provides,” said Jason Colquitt, CEO of Across Healthcare. “Reliance on paper-based records creates numerous challenges for caregivers, especially when treating patients with rare diseases like MWS, and Matrix will help address those challenges.” Colquitt is a rare disease patient and advocate who engages in substantial philanthropic work for rare disease communities.

“The MWS Foundation is grateful to Jason and Across Healthcare for making the Matrix platform available to MWS patients,” said Deborah Curry, President of the Mowat-Wilson Syndrome Foundation. “Having ready access to important health information at the moment it is needed will not only improve quality of life for patients, the ability to easily share this information will also prove invaluable across the MWS community.”

The MWS Matrix Portal includes functions within the following categories:

Medications

Allows for keeping a log of all medications, dosages, and refill dates. Text and email alerts can be set up for medication administration and refill dates.

Symptoms and Activities

Allows patients and caregivers to customize any symptoms or activities they want to track such as seizure activity, doctor appointments, medication changes, or sleep patterns. A graph is then created of multiple activities and symptoms to look for possible correlations.

Journals

Allows creation of journals to easily keep a written narrative of things such as changes in eating, GI issues, physical therapy feedback, and doctor visits.

Documents

Allows uploading of documents so they are easily accessible and in one place.

Message Center

Allows for two-way communication with the MWS Foundation.

Resource Center

Allows the MWS Foundation to make important documents and forms easily accessible. An example might be a document explaining MWS for a new health care provider, therapist, or teacher.

The MWS Matrix Portal will be available to the MWS community On Feb. 1, 2021. It will only be available in English at the time of launch. Future plans include making the MWS Matrix Portal available in Spanish, Italian, French, and Japanese.

Mowat-Wilson Syndrome Growth Charts

Mowat-Wilson Syndrome Growth Charts

Male & Female | Height | Weight | BMI | Head Circumference

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.

Impact of COVID-19 in MWS

Guidelines and Recommendations for Families Affected by MWS

The Mowat-Wilson Foundation has received a number of questions about how coronavirus disease 2019 (COVID-19) may affect individuals with MWS. We hope that you and your family are staying safe and healthy. During this time, the best source to turn to for information about your family member with MWS is your family member’s primary care physician, who will know your family member’s medical history, as well as local/state guidelines for protection against getting COVID-19.

The Mowat-Wilson Medical Advisory Board also realizes that many families are concerned about the risks of contracting COVID-19 and how this virus may affect their relatives with MWS differently. Individuals with underlying health conditions (including cardiovascular, pulmonary, and immune problems, to name a few) are thought to be at increased risk of having a more difficult time fighting off the virus, although age is also thought to be a factor, with individuals under age 20 years accounting for many fewer serious infections or deaths compared to those older than age 40 years. However, these are generalizations, and each individual is unique, as is the risk in each community based on local/geographic factors.

Many are wondering when it will be “safe” to return to some types of typical activities (i.e. going out in public, etc.). We encourage all families to be aware of their local/state/county/country guidelines regarding social distancing, the need to wear masks in public, and the slow reopening of businesses/schools. If an individual is unable to abide by the social distancing and/or mask requirements or recommendations, it may not be in their best interest to be about in larger public areas, even if those areas have been reopened. Additionally, individuals who explore their environment using their mouth (putting objects into their mouth) may have an increased risk of becoming infected with the virus if they are placed back into a daycare or school setting, particularly if that setting includes other individuals with special needs who also explore the environment using their mouth.

The medical factors that lead to a worse outcome are not completely known, although some underlying health conditions seems to predispose individuals to being sicker. While we do not know all factors that may lead to more severe illness or death, some factors that could increase this risk and are more specific to individuals with MWS are the following:

1. Those with a history of previous blood clots or clotting issues. This is rare in individuals with MWS.
2. Those with absent spleen or who have been told that their splenic function is not normal. Fortunately, most individuals with MWS do not have a known problem with their immune system.
3. Those with congenital heart defects; discussion of the actual heart defect and specific risks would need to take place in conjunction with the affected person’s primary care physician and cardiologist.
4. Any person with obesity (also, extremely uncommon in individuals with MWS).
5. Any person with baseline breathing issues (also rare in those with MWS who do not have a congenital heart defect).

Individuals with MWS may also be at increased risk for various types of “accidents” (including having a seizure, falling, etc.) that could put them in contact with first responders or other individuals in the general community who are trying to help. Before returning to more normal activities (school, daycare, day programs, etc.), it would be ideal for families to have a contingency plan in place on how to handle each risk-related event based on the individual’s risk factors and history and on how to address these issues with contact with others in the school setting and elsewhere. Then if “accidents” occur, there is a plan in place to address the individual’s needs without excessive exposure to others and the environment.

Many individuals with MWS have a history of seizures or currently have a seizure disorder that is treated with medication. Even if your affected family member does not have a history of seizures, we encourage you to read the statement below, as it applies to many individuals with chronic health conditions who may be taking prescription medication. The following is an excerpt from a statement put out by the American Epilepsy Society:

“The American Epilepsy Society (AES) urges its members and their patients to be aware and cautious while keeping the coronavirus disease 2019 (COVID-19) situation in perspective. In addition to monitoring US Centers for Disease Control and Prevention (CDC) statements and directives, healthcare providers (HCPs) should closely monitor statements and actions of state and local health departments.

Patients should be instructed to work with their HCP’s office and pharmacy to initiate prescription refills at least one week before they anticipate running out of medications for 30-day prescriptions and at least two weeks in advance for 90-day prescriptions. While not always possible under payer practices, where feasible and warranted by individual patient situations, HCPs may wish to consider writing 90-day rather than 30-day supplies of medications to ensure that patients have a sufficient quantity of medications on hand.

In a reminder of usual best practice, providers should encourage patients to work with their pharmacists to synchronize prescription refills of all medications, not just antiseizure medications. In addition, patients should be advised to discuss home delivery options with their pharmacy. These measures can minimize public exposure, in the event that public health authorities limit travel or public activities. Epilepsy centers and HCPs should also consider readiness for utilizing remote care options, if possible; i.e., telephone, telehealth, and electronic health record (EHR) messaging.

Viral illnesses may be a trigger for seizures for some, and patients should have an up-to-date plan for managing breakthrough seizures. If medications are involved in this plan, patients should ensure that they have a supply of these medications on hand, with expiration dates at least six months away.
Health professionals may wish to monitor drug shortages via the FDA Drug Shortages web page or the American Society of Health-System Pharmacists (ASHP) drug shortage tracking system which can now be integrated into EHR systems.

Additional advice for patients with epilepsy and their families is provided on the Epilepsy Foundation web page, Concerns about Coronavirus. AES will continue to monitor the impact on its members and their patients of the COVID-19 situation and will update information and guidance as needed.”

We know this is a stressful time for everyone and we hope that you and your family stay healthy.

 

Meet the MWSF Community Advisory Board

MWS Community Advisory Board Established. Members Selected.

The MWS Foundation recently established our first Community Advisory Board (CAB). The idea behind the CAB is to put in place a more efficient process to gain input from the MWS community. We have selected 14 members (10 U.S. and 4 International) from the MWS community to begin serving a 2-year term. These CAB members will be asked to provide input/ideas/suggestions to the MWS Foundation thru participation in conference calls, email communications/surveys and individual one-on-one phone calls with Foundation Board Members. In order to do this, they will interact with their own networks within the MWS community to share information and gain feedback/input that can be shared with the MWS Foundation.

  • Laura J Windsor – Clinton/Suitland, Maryland, USA
  • Mallorie Brown – Westford, Massachusetts, USA
  • Amanda Rice – Ammon, Idaho USA
  • Jodie Hughes – San Pedro, CA, USA
  • Erin Hawthorne – Long Beach, MS, USA
  • Carrie Avila-Mooney – Renton, Washington, USA
  • Dann Hauser – Medford, Oregon, USA
  • Barb Andrews – Norwalk, Ohio, USA
  • Jennifer Farrell – Chicopee, Massachusetts, USA.
  • Kim Jachim-Mellenthin – Palos Park, Illinois, USA
  • Carolina Foresti – Toronto, Ontario, Canada
  • Shelley Clarke – New Zealand
  • Sherran Mitchell – Myrtleford, Victoria, Australia.
  • Rui Negrão – Lisbon, Portugal

Please join us in congratulating them and thanking them for supporting the MWS Foundation and helping us to better meet the needs of our MWS family.

Conference Cancellation

COVID-19 Update

The MWSF board has decided not to delay the inevitable. The 2020 International Conference is officially cancelled. As upsetting as this is, we feel that we must act now to allow everyone to move ahead with the necessary cancellation of travel plans, etc. Registrations will be refunded as soon as possible.   Please bear with us as we work to develop a new date for our conference. For those of you who have booked travel, we will be working to come up with an official cancellation notice that may help when you contact your airline. Please email me at debyc@mowat-wilson.org

Sincerely,

Deborah Curry
President
Mowat-Wilson Syndrome Foundation

MWSF Store Now Open!

Support the MWS Foundation and Raise Awareness!

Great Gifts for Families, Caregivers, Teachers and Therapists!

The Mowat Wilson Syndrome Foundation is proud to announce the grand opening of the MWS Store featuring many options of products. Looking for a gift? Please support the Foundation by shopping at our store.

Our initial inventory includes:

  • T-shirts
  • Polo shirts
  • Hoods
  • Hats
  • Drinkware
  • Tote bag
  • Car magnet
  • Emergency Window Decal for non-verbal/special needs
  • Bracelets

 

store-banner

2019 Giving Tuesday

Set Up a Giving Tuesday Fundraiser

We Can Do More Together!

GivingTuesday is a global generosity movement unleashing the power of people and organizations to transform their communities and the world. Facebook has announced a $7M matching for donations received on Tuesday, December 3rd  on a first come, first serve basis. You can help raising money for the Mowat-Wilson Foundation by setting up a Giving Tuesday campaign on your Facebook page.

Step 1 – Create the fundraiser on Facebook (click below to learn how)
Step 2 – Ask your family and friends to donate on Tuesday morning to qualify for the match.

 

Just Want To Make a Donation?

We thank you in advance for considering a donation for the Foundation. The money received will help us fulfill our mission to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education. Thank You!