Our third child, Brooke, was born in August of 2011. She seemed healthy at first, but we quickly realized that there was something wrong. She was floppy, she didn’t cry, didn’t move much, and couldn’t feed. We lived in the neonatal ICU for 3 weeks before she was able to eat without a tube and we were sent home. It was another 5 agonizing months until we got a call from our geneticist with a diagnosis.
Brooke has a rare and devastating genetic disorder called Prader-Willi Syndrome, or PWS for short. It randomly affects about 1 in 15000 births worldwide without regard for gender, ethnicity, or location. A small set of genes on chromosome 15 get turned off, and a large set of symptoms are created. There’s low muscle tone and slow metabolism, cognitive delays and severe behaviours, weak bones and acute scoliosis, disturbed sleep patterns and body temperature regulation, even things like mental health issues and excess tooth decay. But the symptom PWS is known for, and the hardest to deal with, is the hunger. People with Prader-Willi cannot feel satiated from eating food, and have the constant, gnawing feeling that they are starving to death. The hunger can drive them to literally eat themselves to death, either quickly with burst stomachs, or when combined with the low muscle tone and reduced metabolism, via severe obesity with all of its complications.
There is currently no cure for PWS, and except for nightly growth hormone injections for improving muscle tone, there are no treatments for most of its symptoms. There is, however, an organization that is working on it. The Foundation for Prader-Willi Research, or FPWR, has a mission to eliminate the challenges of PWS through the advancement of research. Since 2003, the charity has raised over 8 million dollars to fund grants for PWS research, and the progress has been extraordinary. There have been genetic mouse models created, a network of scientists and clinicians developed that collaborate on projects, and many papers published in top medical and scientific journals. As of now, there are even drugs in clinical trials that could do things like control the hunger or help with behaviors. It’s very promising, and leaves us full of hope - but the organization needs funding.
We (Jack and Belinda) got involved with FPWR Canada by hosting our first fundraiser walkathon in 2012. Our involvement has grown each year since, and we have now raised nearly a quarter of a million dollars for PWS research. Beyond our walkathon, Belinda has helped with things like charity galas and international research conferences. Jack joined the board of directors in 2016, and as of last summer took on the role of President and Chair of the Board.
On Sunday May 27th, we will hold our 7th annual fundraiser walkathon at Chinguacousy Park. It is now FPWR Canada’s flagship fundraising event, and it ends up being a fun day in the park for everyone. We have demonstrations from local groups, lunch and T-shirts for attendees, and even an airbrush tattoo artist for the kids.
When we got the call from the geneticist, we cried, we did research, and we felt hopeless. But then Belinda said something that we’ll never forget. She said that we will not let this disorder define our daughter. From this day on we will Keep Moving Forward, no matter what. And Keep Moving Forward has become our family motto. Awareness is the single biggest thing we can do to defeat this disorder. So we thank you very much for reading this, and for anything you can do to help beat this cruel disorder. Please donate and spread the word. Thank you!