This entry has been written by PWS parent and volunteer OPWSA Co-Chair, Holly Sine.
A family is typically related based on our DNA, on our chromosomal sameness, or created by choice. We look at each other and study similar features, similar mannerisms and behaviours associated with likes/dislikes, strengths and weaknesses. A family sticks together through thick and thin a family supports one another in both good times and bad times. And throughout our lives our family continues to expand.
My family did just that, only 4 short years ago, my family expanded in more ways than I ever imagined. I had no idea there was a new family destined to be mine, besides the one I was prepared for; I was pregnant with twins. What a gift! With the birth of my twins, within 2 short months I was introducing myself to a lot of new people. This new family would support me through a very trying time of my life. A family that had very specific DNA sameness to my new born son. This specific chromosomal sameness isn’t typically how we identify a family, there are some families that come to be that were never planned, never hoped for and certainly we aren’t prepared for.
Our new family had similar features, light coloured hair, blue almond shaped eyes, small hands and feet, had similar mannerisms, poor balance, low muscle tone and common behaviours of OCD and insatiable hunger. This family was related by chromosome 15. This family extends beyond gender, colour of skin, race and ethnicity, this family has no geographical borders. This family is Prader-Willi Syndrome (PWS).
Prader-Willi is a genetic syndrome that occurs rarely in our population, 1 in every 15,000 life births. There are only approximately 900 people of all ages with this condition in Ontario. About 10 new births a year, and we are the class of 2014.
Our first call after the diagnosis was to the Ontario Prader-Willi Syndrome Association (OPWSA). We received confirmation of the suspected diagnosis on a Friday afternoon in March. We were sent home with a two paged photocopy stapled together from a textbook about Prader-Willi Syndrome. The pediatrician (in-training) hesitantly and awkwardly said, if you have any questions please give us a call. Questions…oh my, was she serious, we had nothing but questions. As we drove home that afternoon, we put on our brave face, and started our journey to cope, accept and continue to live our lives with this difficult news at the forefront.
This call with Jessie Phillips, Family Support Worker of the OPWSA was critical to the path we followed next. She expressed how wonderful the families involved with OPWSA were, and she began connecting us with parents that would offer advice, hope and support. She was absolutely correct about the families involved with OPWSA. Families with courage, offering support, showing faith in living a great and fulfilling life and most of all families who absolutely loved their children afflicted with PWS. We continue to look forward to all the new memories ahead with our PWS family, it is a lifetime ahead, we are bound together by the perseverance of having the best possible outcome for our children. As a parent I hope to continue to offer back to the OPWSA family, what I have been able to receive over the past years.
A special thanks to Dan, Cathy, Rob, Jennifer, Jessie, Natalie for being there at the beginning to help me, include me and give me your ear when I needed it most.