Two years ago we received the devastating news of a Prader-Willi Syndrome diagnosis for our then 1 week old baby, Nicholas. Along with the diagnosis came an endless list of things our baby would never do, never experience, and never be. Anything that he may manage to acheive would be delayed. We were sent home completely broken with a baby who was totally overshadowed by his diagnosis. I look at his baby pictures now and wonder if I was ever able to see then how truly beautiful this baby was. I will never make that mistake again.
It is almost as if this tiny baby bundled in my arms was listening to everything the doctors told us during those first weeks and formulating a plan to exceed all expectations. It has not taken him long to convince us that he will do, experience and be whatever he chooses. He is determined, smart, sweet and SO funny! He is developing on track with typical children and is actually advanced in cognitive areas.
The hookshot? People with PWS live with a brain that is convinced that their body is in a perpetual state of starvation. It means their bodies do what any other victim of starvation would do. Their metabolism drops to half the normal rate. Their bodies store every last extra calorie as fat rather than building much needed muscle. Worst of all they are subconsciously compelled to search for food every waking moment of their lives. This makes it almost impossible for for them to think of anything else. This isn't just hunger, this is primal survival. The best way I can describe it is to put two pictures side by side. The first of a child with PWS and the caption "this is how I look". The second of that child with the body of a famine victim, captioned "this is how I feel". Individuals with PWS are in danger of literally eating themselves to death and it is completely beyond their control. These challenges require vigilant supervision with food for their entire lives, making independence almost inconceivable. Sadly, they lack the ability to ever feel full and so will suffer constantly with this insatiable hunger until we find a treatment for it.
We are dedicated to eliminating this challenge for our child and all other individuals with PWS. We believe that finding this treatment is not only freedom from misery and frustration but freedom itself...INDEPENDENCE. The research is so promising thus far that finding a treatment(s) doesn't seem that far off, if funding permits it to continue. I am helping to raise money for the Foundation for Prader-Willi Research. All proceeds from the One SMALL Step walks go to fund the Prader-Willi Syndrome Research Plan jointly created by FPWR and PWSAUSA. Learn more about PWS and this event at http://www.fpwr.org/. Please join me and donate now! Any amount is sincerely appreciated and vitally important.
We are so grateful to all who have been so good to us these past few years. Thank you for your continuing support with challenges ahead and best of all for sharing in the certain joys to come!
****WE HAVE A CHALLENGE MATCHING GRANT AVAILABLE OF UP TO $5000 PLEASE HELP****
Most Sincerely- Colette and Eric Joncas
PS - All of the children in this video also have PWS