MWS Family of the Month – The Fineberg Family

Released January 1, 2022

by Katie Fineberg, member of the board of directors of MWSF

Our special girl

My husband, Mark, and I are the proud parents of our daughter Zoe, who has Mowat Wilson Syndrome (MWS). Zoe is 10 1/2 years old and thriving in her 4th grade public school class. Although she has a limited vocabulary and requires the support of a paraprofessional, she is one of the most popular kids at school. Zoe’s ability to communicate with her peers and other people has just amazed us. She went from just being able to use one and two-word responses to now using full sentences by leveraging her Augmentative and Alternative Communication (AAC) device. She is very capable of getting what she wants. Zoe amazes us everyday with what she can do, and we are just so incredibly proud of how far she has come. Let’s spend a few minutes sharing her journey…

Zoe was born in June of 2011 – she was born about 10 days early and had a VSD (heart murmur) and Hydronephrosis (fluid in her lungs tracked in pregnancy), so at birth we were already faced with some medical issues that we had never experienced before. As an infant, Zoe was on antibiotics every day to prevent any infections. We were in and out of the hospital, while seeing a cardiologist and a urologist for her two conditions. Little did we know that these two conditions may have been related to her future diagnosis, still years down the road. At a very early age, Zoe endured procedures that you never expect your child to endure, and she handled them like a champion. A major challenge that Zoe has faced since birth is constipation. Fortunately for us and for Zoe, she has always been able to “go” on her own and up until 2019 she had only minor issues. Then, everything just kind of went downhill. Zoe has been on several medications over the last 3 years to help her “go”, and it has been a daily struggle. We have had her tested several times for Hirschsprung’s disease and the tests always come back negative. Our GI doctor has been amazing and continues to help us with the battle as the communication piece is always just really difficult. We have to stay on top of it. We just hope that we can get Zoe back to a place that is comfortable and somewhat more normal.

The challenges we face

When Zoe was just 4 months old, we were advised by the pediatrician that we should see both a Geneticist and a Neurologist because Zoe had VSD and Hydronephrosis, plus very small features including small feet, small hands and a very small head. She also always had her tongue out of her mouth.

When Zoe was 4 months old, she was evaluated to see if she qualified for a birth-to-3 state provided preschool therapy service – unfortunately, she did not qualify for this therapy because her scores on the measurement for children aged birth to three did not meet the qualifications. As parents, we began to feel very nervous that there was something wrong. When Zoe reached 7 months we decided that since she wasn’t reaching any of her developmental milestones. We would, on advice from a very good friend, get her re-evaluated to see if she could qualify. Her scores at 7 months validated our concern, and Zoe began receiving services such as occupational and physical therapy. She was two years old before she started receiving speech therapy.

Speech is the biggest hurdle for many children with MWS. Some kids are non-verbal, and some are verbal – it depends on the individual case. During this period, we relied on the advice of her doctors to run medical tests because we suspected that there was something not quite right about her. Everything they tested came back normal, including an MRI and an EEG. Well, as you can imagine, the frustration and concern started to set in because it was incredibly hard to keep putting our child through all of this at such a young age. Zoe had no idea what was happening and neither did we. It was at this point that one of our Neurologists indicated that she might have Mowat-Wilson Syndrome.

Getting the right diagnosis

As you might expect, our concern was great as we took to the internet to try to understand what an MWS diagnosis might mean at that time, information was relatively scarce. We felt that it was in the best interest of Zoe to seek the expert opinion of a geneticist at Boston Children’s Hospital and fortunately, we were able to get an appointment within 2 weeks. As we were discussing Zoe’s case with Dr. Picker, we told him that our doctors back home had mentioned that there was a chance it could be MWS. During that appointment, Dr. Picker took a blood sample to run a broad series of tests as soon as possible. He also informed us that there was only one testing facility in the US that was capable of identifying MWS: Emory University in Atlanta. So, after weeks of waiting for answers we finally got the call from Boston telling us that, yes, our daughter has MWS.

The most interesting aspect of the report was that Zoe’s genetic coding sequence had never been identified in any other child (approximately 300 cases had been identified at that time). At this point, my husband and I were just relieved to finally have a diagnosis. With the realization that we had an atypical child, we could now move from pursuing a diagnosis to supporting her needs going forward. As we started researching and reading about MWS, we realized that our life would be very different.

Mobility challenges

Another early challenge experienced early on in Zoe’s development was mobility. Zoe has very low muscle tone and needed the assistance of AFOs (leg braces) to keep her gait in line. She started wearing AFOs well before she was walking, because she needed to be stabilized any time she stood up on her feet. As Zoe continued to develop, she required a new pair of custom-fitted AFOs about every 6 months because her feet continued to grow. We also had to continually buy two different sizes of shoes, one for her to wear when she wasn’t wearing her braces and the other pair for when she was. Zoe really didn’t start to walk on her own until she was about age 3. She eventually moved to SMOs (shorter leg braces) from age 3-6, which were just for her feet and eventually gained enough strength that bracing was no longer required. Although her stability is still not perfect, she is now able to navigate ramps and steps and when the mood suits her, she can even jump around.

In Dec of 2015, Zoe was evaluated for AAC (augmented and alternative language). The conclusion was that Zoe would most likely never be able to vocally communicate. After months of paperwork and assessments to meet insurance qualifications, we were finally able to get Zoe the proper device for her to be able to communicate.

Hope and a heart of gold

Through this whole experience and the challenges that we have faced, the one thing that is constant is Zoe’ s heart of gold and her ability to bring a smile to anyone’s face. Zoe is a loving, funny, beautiful little girl with a constant smile that gives us all confidence in her ability to overcome any of the challenges that lay ahead. What Zoe has achieved is incredible and she continues to surprise us every day with her determination and strong spirit.

In 2016, I was asked to join the Mowat Wilson Foundation Board. Our Board consists of mostly parents and grandparents trying to make a difference in the world for our special needs children! We are all trying to stay ahead of the daily challenges that face each and every one of us. For some of us, these challenges include seizures and major medical issues – for others, they include problems related to motor skills and communication, but we are all one big family helping each other. I am extremely proud to be a member of this board. In the last few years, the board has accomplished many wonderful things. We try to hold a conference every 2 years, so that MWS families can come together and learn. Last year, due to COVID, we were only able to host a virtual conference. In our first session alone, people from over 21 different countries attended. Our tagline, “Because we don’t know what’s possible” is so fitting.