When our son, Robert, was born almost thirty-one years ago, we had no diagnosis. Seven years later a new blood test confirmed Prader-Willi syndrome. It was not a good day for our family, and from what I understand, it is not a good day for any family (then or now) facing a new diagnosis. I was sure when our son was born that we were going to “fix this.” I wrote in my book Raising Robert that denial and I were particularly good friends.
Years have passed and our son is now a grown man. Life has not been easy for any of us. There have been challenging behaviors, outbursts, weight gain, scoliosis, hospitalizations, and worry. I am happy much of that is in the past for Robert, and I think, for some of the people who are his cohorts.
I recently signed up to participate in Path for PWS. For those of you who are not aware of this study, it is online data collection for people with the syndrome. Their brochure states “Path for PWS is a study to help us better understand serious medical events in PWS over a 4-year period, as well as evaluate how PWS related behaviors change over time. The data from this study is intended to inform the development and clinical trial design of potential new treatments.” To participate, you fill out surveys about the person with PWS over time.
Now for the “Good News.” You can view graphs after you have completed your survey. This has data from other parents and caregivers taking the survey. As I have stated in the past, I am not a trained medical person, but this is what I interpreted from the graphs; many of the behaviors that drive caregivers to distraction decrease in frequency as the person with the syndrome ages. That includes tantrums, aggressiveness, lying, stubbornness, and difficulty in transitioning.
Many of you will be encouraged by this, especially if you are in the middle of teen years. The behaviors start to decrease in the twenties just like contemporaries. I have been told by a respected psychologist who treats adolescents that brains are not fully developed until twenty-five. We see young adults without the syndrome making better choices in their twenties as well.
The other information I gathered from the surveys was that many of the people with the syndrome have delightful qualities. They are creative, grateful, friendly, spiritual, kind, have a desire to please others, and love to learn.
This data will be used in a variety of ways. Whenever I hear of Chromosome research I think, “Wouldn’t it be wonderful if someday they could replace the deletion that causes Prader-Willi Syndrome?” As I have stated before, learning to live with what is instead of what you wish it was is important. It is possible my interpretation of the data is not correct, but maybe it is.
Contributed by Janet Favorite
A Note About the Global PWS Registry
New participants are always welcome in the Global PWS Registry. Join over 2000 PWS families enrolled worldwide who contribute to this natural history study. To create your account visit www.PWSRegistry.org. If you have questions or need assistance, please call (760)420-5878 or email info@PATHforPWS.com.