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”.