From Pip’s mother
My beautiful son Pip was born at 35 weeks after a normal pregnancy, although in hindsight I realize now that he was a very still baby with minimal in utero movements, as a first time mother it was not something I really thought about and when the obstetrician had me keep a log book of movement I noted down every tiny flutter, the ultrasound radiographer said he was the most perfect looking baby he had ever seen (a line so well rehearsed his delivery was very convincing). As a newborn any issues Pip had such as difficulty breastfeeding or jaundice was all put down to his being preemie. I was convinced that breast is best and struggled through a very painful (physically and emotionally) four months of a very cranky and hungry baby and despite working very closely with a lactation consultant and a pediatrician we had grave concerns that something was wrong. Pip was extremely malnourished looking and suddenly his eyes were more open and we could see his eyes were moving uncontrollably from side to side and he was clearly suffering failure to thrive, the pediatrician sent us directly to ER to get under the immediate care of a neurologist. On the way from the doctors office to the hospital we stopped for bottles and formula and while waiting in the ER Pip sucked down hungrily an entire bottle of formula and calmly fell asleep in our arms, something he had never done before. From there he had clear CT scans and the neurologist sent us for bloods which resulted in him giving Pip the diagnosis of Potocki-Shaffer Syndrome, he handed us a 1 page print out from genetics home reference and said - now you know as much as I do about this condition. He told us the spectrum of PSS was anywhere from unaffected to not able to walk or talk, and judging by the size of Pip’s deletion he would be somewhere in the middle of that. From this meeting my husband and I entered a deep grief, we were floating in a world of unknowns with all of our expectations of what our life was going to be were obliterated.
From six months of age Pip has been under the care of physiotherapists (PT), occupational therapists, speech pathologists and has participated in many other therapies; behavioral, aqua, equine, social skills. We have tried many different doctors and medical professionals, and, especially when he was a toddler every small issue would be pursued by me to ‘fix’, when it was clear he was over eating I even joined a Prader Willi Syndrome support group 1.5 hrs drive away from our home. I believe a lot of the therapy has truly helped Pip, as of 2022 he can read words and some sentences, he can walk, he can talk. Every achievement he has made is through the result of many hours of repetition and effort. But we have also traveled down many dead end roads and ultimately acceptance on my part has brought more surprises as Pip continues to grow and develop.
Our life is extremely different to what we expected it would look like 10 years ago and it is an exhausting, terrifying, anxiety-inducing life, constantly feeling on the edge of catastrophe, but the pride, love and excitement and joy of each tiny milestone Pip has reached is something I never expected either. I created this website and am sharing my story with the hope that new parents won’t feel quite as alone in the world as we did before we knew what it meant to be a parent of a special needs child.