Fundraising News

Save the Date for 3 upcoming fundraisers

2021 MWS Virtual Run

Mark your calendar and get ready to put on your running shoes this fall. Every step you take makes a difference! The 2021 MWS run is a national effort that will involve runs all over the US during October & November 2021. The MWSF encourages individuals, groups and families to organize fun-runs and local races to raise funds to support the foundation and the information and resources it provides. MWSF will provide a form so we can learn about every run that takes place. Please note that all runs will need to check with the local authorities to make sure that all permits and insurance are acquired.

2021 Milford, CT MWS Run:  Never give up, not now, not ever

This fundraiser will involve a 5K run and Half Marathon on October 16, 2021 .

2021 Golf Tournament:

Our Golf Tournament Fundraiser will be held in Las Vegas, NV on November 5th.                                        This is the third year for this tournament.  More information will be posted on our Facebook page.

 

Mark your calendar now for these three events – and look for updates in upcoming newsletters!

The FaceMatch Initiative

Background 

As 50% of people with significant developmental delay or moderate intellectual disability (ID) have facial features which can provide a clue to genetic diagnosis, the overall aim of the FaceMatch project is to develop a sensitive and specific computer-vision phenotyping tool to aid and enhance diagnosis. It achieves this by comparing the facial features of a child without a diagnosis, to a pool of images from children with genetically confirmed forms of ID and those children who remain undiagnosed.  There are currently 600 known unique forms of ID that typically show characteristic facial features.

The FaceMatch computer-vision technology will have clinical utility to 1) triage early and appropriate genetic testing by primary care doctors and paediatricians 2) guide laboratory interpretation of DNA sequence data and 3) facilitate the discovery of novel ID genes or genetic mechanisms.  Understanding the complex and interacting pathways involved in normal cognition is the first step towards developing targeted treatments in the future.

A pilot study published in 2017 confirmed that the FaceMatch technology correctly identified a top match more than expected by chance (P<.00001) in patients with known syndromic forms of ID (1).  The results of this study support the need for further research into the clinical utility of deep phenotyping using FaceMatch combined with human phenome ontology (HPO) terms for individuals with an undiagnosed ID. Achieving an early diagnosis for conditions like Mowat-Wilson Syndrome is essential to ensure early educational intervention, guide management and triage eligibility for new therapeutic trials.

Objective of the FaceMatch Mowat-Wilson Syndrome subproject.  

The overall objective of this project is to test the clinical utility of  FaceMatch at prompting a diagnosis of Mowat-Wilson Syndrome by the age of 12 months. This project will expand the current FaceMatch database and provide proof-of-concept data for the clinical utility of the  FaceMatch technology at prompting earlier consideration of Mowat-Wilson Syndrome.

FaceMatch recruitment platform 

The FaceMatch team recently launched [April 2019] an international secure FM platform (facematch.org.au) to allow parents and doctors around the world to upload images of both diagnosed and undiagnosed people with intellectual disability. Parents are encouraged to upload a number of images across the age range, and data is securely collected and stored through encryption and a coded patient identifier.  Every new case image entered into the image database is automatically and efficiently matched against every existing image generating a ranking list of the closest matches.

FaceMatch aims to work with parents to develop a large secure facial image database which can suggest a diagnosis in people where genetic testing has not provided an answer or where genetic testing is unavailable. People with Mowat-Wilson Syndrome can often share similar facial features. Using advanced computer vision technology to match the faces of children from around the world, the project aims to provide a diagnosis for more families and to assist the discovery of new developmental genes. The main benefit of this project is the potential to help families find a diagnosis.

What does participation in the project involve? 

Parents are invited to visit the FaceMatch site at FaceMatch.org.au to complete registration and online consent process. Consenting parents will provide information for their son or daughter’s profile page in the secure FaceMatch platform. This will include uploading photographs of them at different ages and providing relevant medical information.

Parents of children or adults who have a confirmed genetic diagnosis of Mowat-Wilson Syndrome will be asked to upload a scanned or photographed copy of the letter or genetic result confirming the diagnosis.

Parents of children or adults with a clinical diagnosis of Mowat-Wilson Syndrome who have tested negative on genetic analysis will be asked to nominate an associated doctor to work with the Facematch team.

Privacy and confidentiality  

Any information collected for this research project will be treated as confidential. Information and photographs are stored securely away from the publicly viewed FaceMatch website. All uploaded photographs and data will be encrypted and stored behind a firewall in a password protected computer at the Hunter Medical Research Institute. We will remove names and give participants a special code. Only the research team can match the names to their code. De-identified data generated by the computer vision software from the photograph is used for matching purposes.  Images can only be viewed within the secure FaceMatch site by the FaceMatch team. When the FaceMatch team writes or talks about the results of this project, information will be provided in such a way that people cannot be identified. Images will not be published without additional consent.

For more information see the FaceMatch Website

The MWS Matrix Portal

The MWS Matrix Portal is up and running! This portal is available only for MWS families. The MWS Foundation in partnership with Across Healthcare have created a customized health records portal for MWS patients to help patients and caregivers easily capture, track, and share information related to medications, symptoms, activities, and electronic health records. The MWS Matrix Portal includes functions within the following categories:

  • Medications:  Here, you can create 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 for the creation of journals to easily keep a written narrative of important events, such as changes in eating, GI issues, physical therapy feedback, and doctor visits.
  • Documents:  Allows documents to be uploaded 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.

 

Have questions? Need help? Want to learn more?

Keep an eye out for future newsletters with information about tutorials, webinars, and more!

Request Access | Watch Tutorial

Questions? Contact us

Life Hacks for MWS families

Using a visual schedule

Visual schedules are prompts that can be used for different activities and tasks – for example, putting on shoes or getting dressed. There are many types of visual schedules that can be used: cards, strips, sheets, posters, baseball card holders, pocket charts and much more.

Visual schedules have many benefits:

  • break down tasks into easy steps
  • provide structure
  • teach independence
  • increase focus & attention
  • support the formation of healthy habits
  • reduce cognitive load
  • can be used to support daily routines
  • prevent meltdowns
  • reduce problem behavior
  • act as helpful reminders

Video showing how to create picture schedules & other prompts using Lesson Pix

For more information, check out the Lesson Pix website

If you have tried using a visual schedule but were not successful, consider starting with simple activities your child really enjoys and can do successfully. There are also some good apps for tablets too, such as Visual Schedule Planner and Choiceworks.

Caregiving Corner

Being a caregiver is often like being the “Lone Ranger”. It may be difficult to keep up with or reach out to family and friends – and it may feel like these relationships are fading. Generally, caregivers are more likely to feel isolated if they cannot leave their home, have experienced a major life change (such as the loss of a job), live in a rural or remote area, and do not actively engage in a hobby or other activity.

If you are feeling alone and stressed, don’t be too hard on yourself – research has proven that many caregivers find it difficult to make new friends and maintain friendships. The National Alliance for Caregiving conducted a study in 2018 and found that many caregivers suffer from isolation, which can often lead to depression. But you don’t have to suffer, an article by the Mayo Clinic shows that there are things you can do to feel more connected and reduce your stress:

  • Ask for and try to get help
  • Focus on the good and the difference you are making
  • Set realistic goals
  • Find and connect with caregiving resources in your community
  • Set personal health goals
  • Engage in self care

Health in Aging also provides some great ideas to reduce the stress of feeling isolated:

  • Outdoor activities – go on a hike or just sit in a nice park for a while
  • Physical activities – get active!
  • Stay in touch with close friends and relatives
  • Check out online support groups

Parents and caregivers of individuals with MWS have special needs, and clearly, more research is needed to better support them (Pelentsov et al., 2015). If you have information or advice you would like to share with other caregivers of individuals with MWS, please contact us, we would love to hear from you!

Exciting news at MWSF!

 

We are excited to introduce our newly hired Executive Director Marcia Smith, DBA, MBA!

Marcia is  an experienced nonprofit professional that has led nonprofit programs and organizations for 20 years. Previously, she managed large HIV/AIDS programs, Behavioral Health contracts for a large hospital system, and helped start 2 small nonprofit organizations. Marcia graduated with her doctorate degree in business administration and marketing in 2015. Her motto is “Today I will make a difference” and she is committed to the betterment of individuals, organizations, and society at large.

Please help us welcome Marcia to her new role!

MWS Family of the Month: The Sell Family

John and Wendy are the parents of Christian and Justin Sell.  Christian is 29 and was diagnosed with MWS at 23 ½.  Justin is 26 and his brother’s biggest advocate. John is a member of the MWS Foundation board and he and his wife Wendy have made it their life’s devotion to support both their children. The foundation published a story about them in 2017 (click here to access the article) with some links to some very endearing videos.   To go along with that article and its embedded videos, we are featuring the Sell’s in this month’s MWSF newsletter to showcase their efforts to fully integrate and include Christian in every possible way.

 

 

 

 

Christian is fortunate enough to have enough language to support his love to be on stage and sing karaoke. The family loves and attends many hockey games and live concerts. For Christian it is more about meeting the band members and getting a picture with them than the actual concert. Over the years they have become friends with a number of bands, and he loves hanging out with them before and after the show.

 

 

 

This year, after being a fan for 29 years, Christian has become a fully registered USA hockey PLAYER and member of the Central Vermont Pioneers Sled Hockey team. With support from his cousin Francis and his brother, he is no longer a bystander.  The Sells have put up a Facebook page to allow people to follow Christian’s newest adventure:

 Passion! What is passion? When you have a disability, you often WATCH others participate, engage and succeed in what, in your heart, you want for yourself. After 29 years, all of that changed and became REAL for Christian. Christian, MWS and all, is an officially registered USA hockey PLAYER and member of the Central Vermont Pioneers Sled Hockey team. THIS! Is what life is all about! We created this page to help promote the team, allow others to easily follow him, and to showcase INCLUSION. https://www.facebook.com/Dreams-Do-Come-True…/…

 

When Christian was in 11th grade, the family made a slideshow to share with his sister-class in Thailand to document “the life of a special needs child in Vermont”. The video is updated every year and presented annually to the Special Educator Conference in the State of Vermont. Christian and his family have created a YouTube channel, where you can find more videos of Christian and learn what he has been up to lately.