Life Hacks for MWS families

Released December 1, 2021

Double-wrap your child’s bed

If night time accidents tend to happen in your household, the, this hack is for you. Put a mattress protector and then a sheet over it. Then, put on another mattress protector and sheet. If your child has an accident, you can simply peel off one layer and voila! – you have another clean one!

 

Pack an ever-ready bag

Small drawstring backpacks are perfect for this. Keep a small bag in a drawer or on a hook near your front door. Keep the most important necessities in them – and perhaps a couple of extra things. If you have an emergency or need to leave quickly – you have a bag ready to go that you can grab on your way out the door.

 

Silverware on-the-go

Keep a set of extra metal silverware (including spoons) in the glove box of your car. Plastic utensils can be very problematic if someone with MWS bites down very hard. You can keep 2 Ziploc baggies – 1 for clean silverware and 1 for used silverware.

Caregiving Corner

Released December 1, 2021

The MWSF Community Advisory Board would like to share some information about connecting to resources:

Since 2006, the Case for Inclusion has been a leading source for data and policy recommendations regarding the effectiveness of state Medicaid programs in serving people with intellectual and developmental disabilities (IDD) and their families.   This website provides information about Medicaid services by state – however, some of the information may be outdated.

Military families can access assistance through the Exceptional Family Member Program (EFNP)

This program helps families connect with services This program may offer as much as 40 hours of supplemental nursing a week and 40 hours of respite per month. Tricare ECHO provides financial assistance to beneficiaries with special needs for an integrated set of services and supplies. Families must be enrolled in the EFNP to qualify. Tricare Select allows family members to choose their healthcare providers. These programs are very helpful, but it can be difficult sometimes to find providers that accept Tricare.

Very often, the pediatrician refers the family to Early Intervention services – and this program provides access to a wide variety of services and social workers. Generally, a pediatrician can provide a referral for any child not meeting milestones.

A geneticist or genetic counselor can be very helpful and supportive advocates for getting access to home-based care.

It has been pretty easy for some families to access home-care services in Virginia through the Medicaid Waiver Program. It has been difficult for some families to access home-care services in Mississippi – there is an 8-year waiting list for the waiver program. In Mississippi, without the Medicaid Waiver program, Medicaid only pays for healthcare visits. Sometimes there are no local providers or there is no children’s hospital nearby, which may mean long drives for healthcare visits

Massachusetts provides for 30 hours a week for a Personal Care Assistant (PCA). The PCA can be a family member. Keep in mind that some of the care aspects may be difficult for older adults to physically be able to perform. A company can be used to provide the PCA, if there is one in the area. One disadvantage is that the family has no control over who is hired as the PCA and less control if issues arise such as the individual not arriving on time and their level of trustworthiness. When a company is used, the PCA receives training. The Shriner’s Hospital in Springfield is reported to have great social workers.

A PCA is different from a Direct Support Professional (DSP). Click HERE to learn about this difference.

The 3 MWS Facebook groups can be very helpful if families need information about services and what is available in each state

It is important for caregivers to take time for self-care. Caregivers need to be able to share their feelings. Caregivers should also feel comfortable reaching out to others, especially other MWS families in the Facebook groups who know what you are going through. Don’t be afraid to ask questions and seek advice. A wealth of information is available from other MWS families

MWS Family of the Month – the Andrews Family

Life Hacks for MWS families

Released November 1, 2021

Caregiving Corner

Released November 1, 2021

The MWSF Community Advisory Board would like to share some information about what MWS families can expect after a diagnosis

  • The decision to test children with MWS for COVID-19 is a difficult decision, and there are many factors to take into consideration. It is always best to ask one of your trusted physicians for their advice.
  • Many tests need to be conducted and many different types of healthcare providers need to be involved. Developing a comprehensive care team is vital
    • Metabolism Testing can help determine how medicines and nutrients are being metabolized – most often recommended by a Neurologist
    • A swallowing study might be helpful to identify swallowing issues
  • Many types of therapy may be helpful. These may be recommended or provided by an Occupational Therapist or Physical Therapist
    • Oral aversion therapy
    • Speech therapy
    • Feeding therapy
  • Many children with MWS require extensive bowel and gut management. A Gastroenterologist is a vital member of the care team. Children have varying levels of Hirschsprung’s disease.
  • Augmented communication supports can be extremely helpful. A Speech Therapist usually can help with this
  • Some children with MWS suffer from anxiety and difficulty sleeping
  • It is vital to be working with a Primary Care Physician, Developmental Pediatrician (most often associated with a Children’s hospital), Physiatrist or Pediatrician that is an active part of the care team and that you can trust. This will help in getting the necessary referrals for tests and therapies
  • Many types of durable medical equipment are helpful
    • Wheelchairs
    • Modified Strollers (generally must be referred to as a wheelchair for insurance to pay for it)
    • Augmentative Communication Devices – here is an interesting website about this: https://ebip.vkcsites.org/augmentative-and-alternative-communication/

New Donor Levels

New Donor Levels

We would like to introduce our new levels of giving

Everyone that joins our Sustaining Seas monthly giving program during our 2021 Giving Day Fundraiser will receive a special prize in the mail. They can also enter to win a $50 Amazon gift card.

We will share more about this opportunity during the month of November.

Every dollar makes a difference!

Can’t wait?  Donate now!

Save the Date for our 2021 Giving Day Fundraiser on Tuesday, November 30

GivingTuesday is a global movement designed unleash the power of radical generosity. GivingTuesday was created in 2012 as a simple idea: a day that encourages people to do good. Since then, it has grown into a year-round global movement that inspires hundreds of millions of people to give, collaborate, and celebrate generosity.

Join the movement and give!

Can’t Wait? Donate now

MWS Family of the Month – the Rowe Family

Official Video: About Mowat-Wilson Syndrome

Released November 1, 2021

The Mowat-Wilson Syndrome Foundation has released a short educational video to help family caregivers share valuable information about their adult/child with Mowat-Wilson Syndrome (MWS), which is a rare genetic disorder. The video includes information and perspectives from Drs. Mowat and Wilson, who identified the syndrome in 1998, and Jackie Arnold, the mother of an 11-year-old boy who was diagnosed with MWS in 2010.

Because MWS is so rare, many teachers, therapists, dentists, friends, neighbors, and respite caregivers may have never heard of this disease and find it difficult to interact with individuals with MWS for the first time. In the video, Drs. Mowat and Wilson share information about MWS, its incidence rate, clinical manifestations, and care management. Additionally, Jackie shares deeply personal information about her son’s personality, social disposition, love of school and sports, and how he communicates using adaptive technology.

This video can be used by families affected by MWS to share information about this rare disease with their care management team, educators, and community members.  It is our hope that as others learn more about MWS and individuals with MWS, they will feel more comfortable, leading to more productive interactions and outcomes.

The Mowat-Wilson Syndrome Foundation would like to thank Dr. David Mowat, Dr. Meredith Wilson and Jackie Arnold for contributing to the video. Lee Corbett and Tracy Nelson from Cognetix Learning and Dave VanBlarcom from the Think Media Group graciously donated their time, effort and expertise to produce this important video, and the Mowat-Wilson Syndrome Foundation is extremely grateful for this major donation.

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.