It’s the last day of May, and May is Prader-Willi Syndrome awareness month. I would like to share our story about this syndrome, and kick off my talking about our journey.
Last August, our daughter Brooke was born. She is our third child, and while having a baby is never routine, we thought we at least sort of knew what to expect. After the relatively routine delivery, though, things went outside our realm of experience. Brooke was not showing signs of thriving. She was not crying, she was sleeping even more than a normal newborn, and most importantly, she didn’t have the ability to suckle so she couldn’t feed on her own. This led to her being dependent on a feeding tube, and a stay in the hospital of just over two weeks. That doesn’t sound like much, but to us it felt like a lifetime. While the doctors performed all kinds of scans and tests to try to determine what the problem might be, all we could do was wait and hope for the best.
Eventually Brooke got strong enough to feed on her own and she was discharged. We were very happy, but still did not know what to expect going forward. We went to a ton of doctors appointments hoping for a diagnosis, but Brooke continued to stump everyone. In the meanwhile, though, she started to hit milestones that were very important. Finishing whole bottles of milk. Making a little bit of a cry. And best of all – smiling – which showed us that there was a little person inside her weak-muscled little body.
Just after Christmas, we got a very special gift, of sorts. A gift of knowing. After the third round of genetic tests, the geneticist told us that there was a high probability Brooke had something called Prader-Willi Syndrome, or PWS for short. After a few more tests, it was verified. And thus began our PWS journey.
Prader-Willi syndrome is a rare genetic disorder, affecting about 1 in 15000 babies. It is caused by an abnormality on the paternal region of the 15th chromosome – either a missing genetic material (a deletion), or even more rarely (and in Brooke’s case), a replacement of the entire paternal 15th chromosome with the maternal one. This abnormality causes a wide array of issues, but the most important are commonly separated into two phases. In the first phase, which lasts from birth to somewhere between 2 and 4 years of age, you get what we are experiencing with Brooke. Low muscle tone (hypotonia), difficulty feeding, weak cry, constant sleepyness and lethargy, and in general a failure to thrive. The second phase, which begins around age 2 to 4, and continues from then on, is where the real challenges of the disorder lie. People with PWS constantly feel as if they are starving – no amount of food intake causes satisfaction of hunger. When you combine this with another effect of PWS – it causes a very low metabolism – the results can and do end up as morbid obesity, which leads to many other medical problems and can even lead to death.
This is obviously very scary, and we are still coming to terms with it. The good news is that awareness, research, and treatment around the disorder have been advancing rapidly over last several years, and give hope to the many affected families. We also have family friends with a child who has PWS who are a few years ahead of us in their journey, and whom we can learn from and share with. In addition, we are very fortunate to have a specialty PWS clinic, the only one of it’s kind in Canada, not even an hour away from us. Not to mention the organizations and individuals here and around the world that are promoting awareness and funding research.
My wife and I have adopted the motto “Keep Moving Forward” and plan to live it when it comes to our PWS journey. We have created a Facebook page to share with others, and will be joining organizations, meeting other PWS families, organizing fundraisers, and generally spreading awareness. Which leads me back to this post, and others to come. I will be sharing stories of our trials and triumphs on this blog as we continue our journey and keep moving forward.
I encourage you to contribute if you can, ask all the questions you want, and most importantly, please help spread awareness – this is the only way that attention can be brought to the disorder. We had some custom “Keep Moving Forward” PWS bracelets and ribbons made in orange (the color for Prader-Willi Syndrome awareness), and we are very happy to share them with you. Awareness is our best hope for research leading to treatments, and someday, just maybe, a cure.