MWS Researcher Highlight

Published August 1, 2021

Sumantra Chatterjee is a Research Assistant Professor at the Centre for Human Genetics and Genomics in NYU Grossman School of Medicine in New York. He 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.

His current interest is in trying to understand the genetic basis of the broad phenotypic spectrum observed in congenital diseases including Mowat Wilson Syndrome, for a complete understanding of disease progression, better patient classification and hopefully therapeutic intervention in the future

 

Rare Disease Advisory Councils

published August 1, 2021

Rare Disease Advisory Councils (RDACs) give the rare disease community a voice because these councils are sanctioned by individual states. The first RDAC was created in North Carolina in 2015 and was made up of patients, caregivers, families and providers. Since then, RDACS have been sanctioned in other states. RDACs can help states address barriers that prevent individuals living with rare diseases from obtaining proper treatment and care. The National Organization for Rare Diseases (NORD) advocates for a well-functioning RDAC in every state.

Why RDACs are important

Experts have identified more than 7,000 rare diseases. It is impossible for state policymakers and government officials to fully understand all of the needs of the rare disease community. RDACs help states understand and address the obstacles that rare disease patients face – delays in diagnosis, misdiagnosis, lack of treatment options, high out-of-pocket costs, and limited access to medical specialists. RDACs give the rare disease community a voice about laws and regulations that may impact rare disease stakeholders. Through RDACs, government officials and the rare disease community can work together to prevent and address barriers.

 

You can see if your state has an RDAC here: https://rarediseases.org/policy-issues/rare-disease-advisory-councils/

 

Peter Saltonstall, NORD’s CEO, provides some advice about how to start an RDAC in your state if one does not exist:https://www.youtube.com/watch?v=eBZ09avVq1Q

 

Rare Disease Legislative Advocates explain the difference between an RDAC and a Rare Disease State Legislative Caucus here: https://rareadvocates.org/wp-content/uploads/2020/09/RDLA-Tip-Sheet-Caucus-and-Councils.pdf

 

Global Genes has a nice video from a prior conference about RDACs:  https://www.youtube.com/watch?v=ycD1Zxq6OjE

Life Hacks for MWS families

Published August 1, 2021

Using social stories to prepare your child for a new experience

Does your child become anxious when experiencing new things? Social stories can be used to help familiarize your child with new experiences BEFORE they occur. A social story is a simple book that uses words and pictures to show what is going to happen, what something new looks like and what rules need to be followed. YouTube videos can also be used to prepare your child for a new experience. Social stories are like the visual schedule tool that was presented in last month’s email newsletter. The main difference between a visual schedule and a social story – is that a social story is precisely a story – and can be presented as a booklet. Generally, a social story introduces a new experience and explains why and how it will occur – with pictures. Parents and caretakers can read them much like any other book.

Carol Grey is credited with the development of social stories. She has received many awards for her work in promoting the education and welfare of children, adolescents, and adults with autism:  the Social Thinking’s Lifetime Achievement Award (2015), Learning Spring School’s Spectrum Award (2012), the Autism Society of America’s Education Book of the Year (for The New Social Story Book: Revised and Expanded 10th Anniversary Edition (2009), and the Barbara Lipinski Award (Lansing, Michigan, 2005). Her website provides in-depth information about social stories.

And Next Comes L provides a wonderful example of a social story for hand-washing

They provide other free printable social stories too!

Caregiving Corner

Released August 1, 2021

One struggle that many caregivers have is that medical professionals don’t listen to them. This problem can occur often for families with a rare disease. It is important for caregivers to advocate for their loved one and for themselves – even though this can be a draining process.

Here are some important things to consider:

  • Don’t give up
  • Keep asking questions
  • Find someone who will listen
  • Try to build a multi-disciplinary team of physicians, therapists, support workers, nurses, social workers etc.
  • Work to develop a care team that communicates with each other
  • Ask providers for help when your insurance denies claims
  • Learn as much as you can about MWS and other conditions that your loved one has
  • Try to find a Superstar Primary Care Provider that can act as your “Quarterback” and help you get the support of other medical professionals
  • Be your own advocate – as a caregiver, you have needs too and you should be well supported
  • Connect with others – you are not alone. There are MWS Facebook groups for support
  • Focus on what you CAN do

 

AARP provides some suggestions for when doctors don’t listen:

  • Try to develop a partnership with the medical professional
  • Be prepared at visits and have questions written down
  • Get information about all the options
  • Take time to think before dismissing advice

 

The Society to Improve Diagnosis in Medicine (SIDM) provides the following advice:

  • If your loved one has symptoms that are ignored, ask yourself “What might this be?” And then ask, “What do I do if these symptoms get worse?” These questions might help the doctor to stop and consider the options. You may also want to ask, “What else might this be?” Your loved may have multiple medical issues or conditions that need to be investigated independently.
  • Try to find a medical practice you can trust. Healthcare professionals may have only a little time schedule for each patient, but that doesn’t mean they shouldn’t have time to listen to your concerns and goals. If you feel that your doctor is consistently ignoring you, find another practice.
  • If you feel the physician doesn’t take your loved one’s symptoms seriously, ask for a referral to a specialist or get a second opinion. It may be good to get a fresh perspective
  • Learn how to present your symptoms factually, clearly, quickly, and without unnecessary details. Sometimes symptoms aren’t ignored by the doctor, they’re just lost in a list that’s too long or includes what the clinician feels are irrelevant details. Ask the medical professional how you can best present the information.
  • Learn about the types of screenings that should be performed routinely for MWS patients. If they refuse to do the relevant routine screenings, seek another medical practice that is more conscientious and aware of the medical concerns related to MWS.
  • Speak up. Be willing to stand up for the rights of your loved one.
  • While it is important to learn about symptoms from reliable sources, doing so doesn’t mean demanding specific tests or treatments for some rare disorder you haven’t been diagnosed with. Ask for help politely yet firmly.

Trust is a vital part of the healthcare journey and it is worth it to invest the time and effort to build an effective healthcare team that you trust!

MWS Family of the Month: The Tolman Family

Released August 1, 2021

Natalie was born healthy but by three months old, she was below her birth weight and deemed unable to thrive. She had a slight heart murmur that was fixed by device closure but was admitted to the hospital at 5 months old. Eight days later, the doctors prescribed a very specialized, amino-acid based, prescription-only formula and we were told that Natalie was allergic to all of the major allergenic food groups. We brought Natalie home from the hospital and began taking her to an increasing number of specialists. We finally received a genetic diagnosis of Mowat-Wilson Syndrome when Natalie was 11 months old and being seen by 13 specialists – that moment was life changing. As a young couple, we had planned to have three kids in quick succession, and then…our world was turned upside down.

Genetic Testing: The Golden Ticket

We did not have much support in the early days of Natalie’s diagnosis other than her doctors and therapists, only one of whom had previously heard of this syndrome. When we first received a clinical diagnosis, followed by a genetic diagnosis, we were overwhelmed, and to be honest, we were scared, sad, angry, and unsure. Very limited information was available about this new road we were traveling. Having a diagnosis was, for Natalie, a golden ticket to therapies of all sorts and a fairly simple yet very comprehensive IEP (Individualized Education Plan). Natalie is now 6 years old and has been receiving occupational, physical, speech and music therapy from the time she was 8 months old.

Our primary educational and therapeutic goal for Natalie for the past two years has been improving her ability to communicate. After tireless trials with different communication tools, Natalie has begun using eye gaze software to communicate. This technology has been amazing! Having the ability to effectively communicate is changing how Natalie behaves in our family, at school, and in a wider group setting. Natalie has more confidence and can match wits with her two sisters, all because we found the best way    for her to communicate. She often surprises us when she shares her thoughts and opinions!

Hope for the Future

In 2017, we attended our first MWS Family Conference. For the first time, we met other people around the world that understood what we were going through.  While sitting in one of the sessions, I made the decision to get more involved in MWSF. Not long after the conference, a call went out for Board members and I jumped at the opportunity. I felt a strong desire to help other MWS families. Now, as a member of the MWSF Board of Directors, I can use what I have learned and continue to learn from Natalie and apply it to the wider MWS community. My goal is to help new MWS families so that they do not have to go through all the pain, confusion, and fear that we did.

Rejecting the Notion of Impossible

It may seem that we have not done anything extraordinary over the past 6 years, but every day has been unique, and we take each day as it comes. There have been many challenges and many accomplishments and joyous occasions. We have spent days in the hospital and days of fighting with insurance to pay for therapy. Some days are filled with laughter, and some days are filled with tears. Occasionally, it is a struggle just to get through the day, but other days, everything falls into place, and we know that Natalie is making progress. Having a daughter with a genetic syndrome has taught us that anything is possible, so we decided to reject the notion of “impossible”.

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

 

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!

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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.