Life Hacks for MWS families

Released October 1, 2021

Life Hacks for MWS families

The members of our Community Advisory Board have a few suggestions to share:

  • Don’t use a bed frame. Put the mattress on the floor to reduce falls
  • Have plastic mats for your child to sit on throughout the house to reduce stains from potty accidents
  • Cover all electronics with plastic covers to protect against spills and accidents
  • Closely document water intake. This can indicate a wide variety of issues and it is very important to make note of any noticeable changes.

Caregiving Corner

Released October 1, 2021

The MWSF Community Advisory Board meets every month, and in September, the discussion was all about developing a comprehensive and unified care team:

  • If your child is in a children’s hospital and you are concerned about their care, you may be able to call for a “code blue”, requiring the advisory board to respond quickly (sometimes within 30 minutes). Note that policies may vary among hospitals.
  • Developing long-term relationships is very important. Generally, the longer the relationship is, the more the physician or healthcare professional will listen. Very often, new doctors will provide less support.
  • Conflicts are going to happen – be patient. Many healthcare professionals have never heard of MWS and they need to be educated. Provide them with information and it even helps to share stories from other families. One CAB member even described showing a physician posts from the Facebook group, so they could see that other families were experiencing similar issues.

  • Palliative care is an important part of the care team
  • Develop a comprehensive care team that can provide wrap-around support
  • Provide physicians, healthcare professionals and anyone on the team as much information about MWS as you can
  • Develop a team such that everyone knows it is a long-term effort. It is ALL about the relationships
  • All team members should be open and willing to learn
  • If a healthcare professional continues to dismiss you and ignore the information you provide or your pleas for help/support, you may need to move on and find a new one
  • Be patient – we are all learning together
  • Be prepared that as your child becomes an adult, you may need to create a whole new team for adult care

 

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.

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.

Watch all videos from the “Meet the Reasearcher” Series

Life Hacks for MWS families

Released September 1, 2021

Carolina Foresti, of our September Family of the Month, has a few life hacks to share:

  • Duda often has a difficult time going to sleep and her OT suggested using a bed tent. Another family recommended the Safety Sleeper
  • Duda uses a “personal dictionary” to help people understand her. As she is non-verbal, it’s easier for her to make up sounds and signs than to say a word, so we give meaning to them and she started to use them as words. Now we have a dictionary, so other people can understand her sounds and signs, too.

MWS Family of the Month: The Foresti Family

Released September 1, 2021

The Early Days

We always knew that Duda would be different. Duda had an ultrasound when we were 3 months pregnant; it showed abnormalities and although the amniocentesis test was inconclusive, our doctor told us that Duda had a syndrome. She was sure about that.

From then on, we had ultrasounds every month to monitor her heart, brain, and kidney development.

Duda was born at full-term and had a team of doctors waiting for her. The first batch of exams showed that she had a UTI and her heart exams confirmed that she needed an aorta coarctation, so she had an open-heart surgery when she was only 3 days old.

After one long month in the ICU, she came home.

The early years were the hardest ones. Not only did Duda have hundreds of UTIs when she was little, she also had a couple of seizures before she was 4 years old, but the hardest part for us during the first 2-3 years was comparing her to other children.

It is very hard not to compare your child to all the other “typical kids” who are developing and reaching their milestones when your child is not. All of the unknowns make us question our ability as parents: Am I doing enough? Am I choosing the right PT? Should she start SLP now? Which doctor should I see? Will she talk? Will she walk? Will she be happy?

Once we focused on her happiness and accepted that she was Duda and would only be Duda, we started to accept and enjoy our journey together.

As we didn’t have a diagnosis (back then, Mowat Wilson was still not recognized as a syndrome for girls), we learned to treat things as they came and prioritize them: first was her heart, second the UTIs, and so on.

Duda was getting better, she had 2 surgeries that fixed her ureters and ended the UTIs; her seizures were controlled, and I was learning to understand her timing and celebrate her milestones, whenever they came.

She crawled when she was 3 and learned to walk when she was around 6. She held a cup by herself when she was 17. And we were proud of all of these accomplishments!

Growing Up

Duda is very healthy! We had some scares and more hospital visits than I can count when she was little, but thanks to God, she doesn’t even catch a cold now!

She had all the therapies that you can think of as she was growing up, PT, OT, SLP, horseback riding, swimming; she learned some things, and others she did not, no matter how hard we (she) tried. For example, she still can’t stand from the floor by herself or go up and down stairs without assistance. She needs a hand to walk outside our home because she doesn’t feel stable. And she has had PT since she was 9 months old.

She loves her school; she is very sociable and loves to be around her friends. Duda is very funny and knows it. She likes to make people laugh and watch comedy shows on tv, like Mr. Beans and The 3 Stooges.

 Persistence

“How many times should I try this? As many as needed!”

With Duda, it’s not try once and she will learn, it’s more like “keep trying until you are about to give up and she will reward you (or not).”

Everything takes patience and I am not patient at all! Unless I am with Duda, because she simply doesn’t care about my impatience, she has her own timing:

-Brushing teeth: we started with 1 second per day. Literally. Today she let me brush them all for as long as I need, if I give her breaks and most important, she let the dentist clean them without any problems. It took 10 years to let me properly brush her teeth.

-Toileting: we are on a schedule. She comes to me now and says “UHHH” and I have about 30 seconds to get her to the bathroom. She still wears diapers, but normally doesn’t have accidents. It took 7 years.

-Eating independently: we are still not there. She holds the fork and brings to her mouth and gives it back to me. She doesn’t yet understand why she needs the fork when she can use her hands. I can’t blame her logic.

-Getting in the car by herself: this took 3 months of practice and was finally able to get into the car by herself when she was 15 years old.

Communication

Duda is nonverbal, but as she always comes up with sounds, we started to give them meaning, so now she has lots of them, for example: “dzdz” means music or tv, “nomnom” she uses for food or drink, “Bibi” (her sister’s nickname) she uses for anything that she loves.

Recently she added “LouLou” for Pavarotti (short for Luciano), her new favourite artist!

Communication has always been our focus. Her IEP at school is built around it. Duda is very sociable and it’s important for us that she can go out in the world and show off her amazing personality. I don’t care if she learns to write her name, if she learns numbers or to sort colors, I want Duda to be able to choose what she wants to wear, what she wants to eat, what she wants to do, and to share with me what she is thinking.

So, we give her tools to help her express herself to the best of her abilities! She is not consistent with any method. She plays with PEC’s cards and throws them or only chooses the same one; she doesn’t wait for the iPad to “say” what she wants; and sometimes, she stops saying a word that she was using for a whole month… but she always uses her signs…”Duda’s signs”, so her SLP made a dictionary with them, for example:

  • Knock 3 times (anywhere, using hand, elbow, or foot): means “more”
  • Hand on her waist: teenager attitude, means “Really?”
  • Slapping her buttocks: means “You are busted!” or “You caught me!”
  • Pointing to herself: means “Duda”
  • Pointing her straight arm towards you and opening and closing her hand: means “want”
  • Kissing her hand: means “Thank you”

This is how it works:

Duda points to herself, then opens and closes her hands. I repeat: “I want”. She nods “Yes” I ask “What?” She says: dzdz, nomnom or if it’s something else, she will stand up to show me or point to my phone to use the app and we go from there.

 

The Future

We moved to Canada when Duda was 3, and it has been a very interesting experience! It is hard not to have family and a support system. It doesn’t matter that we have been here for almost 16 years, it’s still not home. And we must plan for the future because I can’t put that all on Gabbi’s (her sister) shoulders.

Now that Duda is 18, we have started getting on every possible waitlist for day programs for when she turns 21. But I am sure everything will work out fine! We have 3 years to adapt to the new reality and as long as Duda stays happy and healthy, I can deal with anything that comes my way!

 

Giving Back

Last year I joined the MWS Community Advisory Board. It’s my way to help new families who are starting this journey and are feeling scared, anxious, and unsupported; just like I did. I remember when I found out that Duda had MWS, and when I saw all the pictures of other children, my first thought was, “I am home”. I want to help others feel the same: You found your family, we will support you along your journey.

Duda’s favorite things:

  • Salami
  • Mickey Mouse
  • School
  • Sunday Respite Day Camp
  • Music
  • Swimming
  • Strawberry Milkshake

Duda’s Least favorite things:

  • Fireworks
  • Thunderstorm
  • Raisin
  • Cooked fish

Caregiving Corner

Released September 1, 2021

The MWSF Community Advisory Board meets every month, and in August, the discussion was all about advice for caregivers:

Don’t be afraid of the diagnosis

It can be very scary to receive the MWS diagnosis, but there is a community here to support you. Seek support and information about MWS – through the MWSF website and Facebook groups.

MWSF Facebook page

Life With Mowat-Wilson Syndrome

Mowat-Wilson Syndrome Family

Mowat-Wilson Syndrome Community

It is comforting and helpful to hear the stories that other families have gone through, and it is helpful to know that you are not alone. Your child will probably have many diagnosis, but they do not define who your child is, or what your family will look like. The diagnosis is not meant to be any type of label or restriction, it is there to guide the medical community in how they can help your child the best and understand their needs. The MWS diagnosis may also help your child obtain critical services. Last month, the Tolman Family described the MWS diagnosis as “the golden ticket”.

You know your child better than anyone else. You are the expert on your child – and a diagnosis will never change that – and it certainly won’t change the love in your heart for your precious angel!

Remember to laugh

Release the stress and let the humor in!  VeryWellMind says “One of the main goals of finding the humor in a stressful situation is to use the humor to create distance between yourself and the stress you are experiencing.” Laughing can help you keep your perspective.  https://www.verywellmind.com/laughter-as-a-coping-mechanism-3144664

Release your expectations – things will happen as they happen

It is important to stay realistic. Every child develops differently, and if we hold onto our expectations, then we miss the opportunity to celebrate the small gains.

Suggestions for self-care

  • Yoga can help relieve stress
  • Staying on a work-out schedule and having the support of a work-out community can help you make exercising a regular routine. Taking regular walks, even for 10 minutes can really help relieve stress.
  • Sometimes, it is OK to leave the house messy for a night – pamper yourself when you need to
  • Ask for help and accept help

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!

 

Fundraising News

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, Las Vegas, NV

Join us for our 3rd annual Golf Tournament in Las Vegas on November 5th. Individual tickets are $125, and a Foursome is $500. The Tournament is a 4-player scramble and will be held at the Painted Desert Golf Club, starting at 7:30am. There is a $10,000 hole-in-one prize and trophies for 1st and 2nd place. Lunch will be served after the round. Sponsorships are available: $1000 to be a Gold Sponsor, $500 to be a Silver Sponsor and there are 2 Bronze sponsorships available for $150 each: Longest Drive or Closest to the hole.

Meet the Researcher – Zoom Webinar Series

Join us on Friday, September 3, 2021 at 7:00 pm Eastern Time as we host researcher, Dr. Andrea Conidi, Department of Cell Biology – Erasmus Medical Center Rotterdam (the Netherlands).

Dr. Conidi has worked for the last 15 years in the ZEB2 field in the lab where ZEB2 has been identified. In the last 4 years, he started investigating the molecular mechanisms underlying Mowat-Wilson Syndrome and associated congenital defects caused by mutations in ZEB2.

Dr. Conidi is part of a team that recently released a study:  ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises.

During the Zoom meeting, Dr. Conidi 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.

This is a FREE event.