MWS Family of the Month: The Hughes Family

Released October 1, 2021

by Jodie Hughes, member of the MWSF Community Advisory Board

Where it all began

Our journey started many years before we became parents. I grew up in Torrance, CA and now reside in San Pedro, CA with my husband (Josh) of 9 years this October. We began dating back in 1993 when I was just 16 years old. Needless to say, we have walked our journey hand in hand for more than half our lives.

My journey to become a mom began long before I actually became a mom. At the age of 19, I was diagnosed with severe polycystic ovary syndrome (PCOS) and was told I most likely would never have children. It was this news that tragically shattered every dream of me becoming the Mom I always wanted to be. It was news I had to share with my then boyfriend. I was terrified to tell him. How would he take this news? Would he leave? And how could I blame him if he did? If being a father was as important for him as it was for me to be a mom, I would have to let him go. I was beyond surprised and overwhelmed with emotions when I broke the news to Josh and his response was… “I love you! Children or no children, it’s you and me”.

We continued to live, and we continued to grow together. We explored the ideas of having children and spoke to infertility specialists before we even got married. I was given a small ounce of hope at that time. It wasn’t until 2011 that my physician gave me “real” hope of becoming a mom. We met with another infertility specialist who collaborated with my physician. Unfortunately, my body was reacting negatively to all treatments and procedures. I began to lose hope once again. It wasn’t until I spoke up and said it’s time to give my body a rest. I researched homeopathic options where I created my own regimen of supplements. It was this magic that led to a positive pregnancy test 9 months later. It was this magic that brought us our sweet little girl Jadynne on April 7, 2015. I didn’t have an easy pregnancy, and she didn’t arrive without giving us a lot of worry. After being placed on bedrest at 20 weeks, preeclampsia set in at 37 weeks and 2 days. After 33 hours of labor in the hospital, resulting in an emergency c-section, Jadynne had to be pushed down by a nurse – her cord was wrapped around her body twice and neck once.

Jadynne Kathryn was finally here, but as I laid on the OR table, she was silent. Jadynne wasn’t crying. All I could do was keep asking my husband, “what’s wrong, why isn’t she crying”? I looked over where there was a team of Dr’s and nurses working on her trying to get her to breathe. I saw a red clock on the wall counting the seconds and minutes. It wasn’t until 4 minutes and 30-something seconds, I finally heard the most beautiful sound ever. Jadynne finally cried. They brought her over to me so I could take a quick look at her and give her a kiss on her forehead before they swept her off to the NICU. My husband was torn between staying with me or going with Jadynne. I looked at him and told him to “go with Jadynne”.  He looked at me again, and I just cried, “go with Jadynne, I will be fine”!

3 days later, we were headed home from the hospital with our beautiful 5-lb baby girl. She was so tiny, yet so strong. The odds were stacked against her from the moment she was conceived, but she had already shown us more than once just how much of a fighter she is. Little did we know what her and our futures would hold.


The Diagnostic Odyssey began

Fast forward 4 months. We took Jadynne in to see her doctor for her routine checkup. Jadynne’s eyes were crossing, she was a little delayed with some milestones, but physically so strong. By the time she was 6 months old we were seeing the first of many specialists that would eventually become part of her care team. We had an ophthalmologist that we began seeing regularly. Just 2 short months later, we were taking her to see an orthopedist to have her hips and legs checked for abnormalities. By 9 months, Jadynne was in physical therapy.

We didn’t understand why she was delayed and not meeting milestones, but we knew something wasn’t right. Jadynne was happy, vocalizing, playful, such a great sleeper, and rarely ever cried. But she just wasn’t meeting some of the physical milestones that she should have been.

By the time that Jadynne was one year old, she was seeing an occupational therapist, and we had been referred to a neurologist. We had no idea what all this meant for us or for Jadynne. The only term we had been given by our Local Regional Center was that she was “globally developmentally delayed”.

Jadynne was placed into an in-center based program when she turned 2 years old. The program was 3 days a week, with each session being 3 hours. They worked on every skill you could imagine. We began learning sign language. This is where we truly discovered Jadynne’s love for music, dance, books and bubbles. We could use all these things for motivation for her.

A New Era for the Family

It wasn’t too long after she began the Leaps and Bounds program that we announced baby #2 was on the way. I was placed on bedrest at just 15 weeks pregnant. I was no longer working, but still had Jadynne to care for. I stayed at all the therapy sessions while I was pregnant so that I too could learn everything they were doing with her and incorporate it at home. My home became a physical therapy/OT center. Everything we did was turned into therapy, yet Jadynne had no idea. For her it was all fun and smiles! For Mom and Dad, it was work and of course, still fun.

Fast forward to Feb 2017. After invasive genetic testing that took 6 months to get the results, we had a diagnosis. The ZEB2 gene was mutated. What did that mean? Mowat-Wilson Syndrome (MWS). I asked the Geneticist to please repeat the name of the syndrome. We had never heard of it. What does this mean for our little girl? We were bombarded with so much information, yet so little at the same time. We were advised that she would need to see a cardiologist, urologist, gastroenterologist, neurologist, ophthalmologist, endocrinologist, and more.

I remember walking out of the UCLA genetics department feeling completely numb and in shock. To be honest, I did not know what to feel. We had answers, yet hearing these answers was devastating. We could move forward knowing what we were dealing with. But could we? The drive home was silent. My husband drove home with one hand on the wheel, and one hand holding mine but in silence.

We got home and started researching immediately. I found the Facebook groups, we found the foundation, and I just dove in head first reaching out to anyone and everyone.

Our primary physician, neurologist, therapists and all the new specialists that we would be meeting soon had never heard of this syndrome. This became a learning curve not just for us, but our entire medical team. How is it that we would be learning alongside Jadynne’s doctors? How is it that those we were entrusting to care for Jadynne hadn’t ever heard of this syndrome? How could we trust that everything was being done that could possibly be done for her? These were just a few questions and concerns I asked myself daily.

We lucked out with getting the one and only geneticist in Southern California who knew about MWS. Dr. Graham was the only person I felt at ease with in the beginning of this new MWS journey we were faced with. I had so many questions for him but couldn’t even think to get the questions out. I spent the next few days scheduling appointments with so many specialists. Scared out of my mind not truly understanding what and why this was all needed. Jadynne had eye surgery, MRI’s, ultrasounds, EKG’s, EEG’s, biopsies and more over the next couple months.

Beauty Arises from Broken Dreams

What had become of our idea of a picture-perfect family? I was in complete denial that this was my daughter’s future, yet nothing stopped me from making sure Jadynne got everything she needed. There was no time to be sad. There was no time to wonder “what if”. There was no time to sort through my own feelings. I had to focus everything I had on caring for Jadynne and our son Joseph.

We are still very young into our journey of special needs, rare diseases and still learning to navigate it all. We are still learning what this all means in the long term. But what I’ve learned this far… just in the last 6 years….is just how strong I am and how strong my husband is. And how we can conquer this journey, the journey of special needs life together. We have endured ups and downs individually, as a team, as a family. Yet we are still a united front doing it together.

I’ve had to learn to navigate and learn alongside and sometimes even teaching our doctors about this rare disease. I had to learn to navigate the system to get my daughter the services that she so desperately needed. I had to learn to navigate the school system and what an IEP was and how to get the needs of Jadynne met. We battle with medical insurance companies regularly. Appealing denials year after year. Jadynne has become my driving force.

Our Beautiful Angel

Jadynne is vibrant, full of energy, happy, smart, unique, beautiful, stubborn, playful, lovable, giving, empathetic and just a pure joy. Her little brother is all these things plus so compassionate, mostly tolerant of her antics, but most importantly the best little, “big” brother she could ever ask for. He watches out for her, makes sure she’s always safe and helps soothe her when she’s upset.

Our family has seen some hard days, weeks and even months, but in the end, we always pull together for one great cause… unconditional family love!

I currently serve on the Community Advisory Board for the Mowat-Wilson Foundation. Why? It gives me a way to engage with our community of MWS families and collaborate with other parents. We can work as a team of parents and share our thoughts, ideas, and experiences to push for grants to fund research and help other families who need our advice and support. We talk about ways to help families in need, things that researchers need to consider and perhaps conduct research on, and how we can support other families on this journey. Being a part of the Foundation personally allows me to have a safe place where I can share our experiences with Jadynne and how they can benefit other families who may have similar experiences. Although we in the MWS community see so many similarities with our children, their journeys are so different and can be quite complex. We want to make information and resources available to families at the touch of their fingertips. It’s an honor to be a part of the community advisory board. I don’t take it lightly and I put my entire heart and soul into my position.

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.


“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.


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.

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