Welcome to the Potocki Shaffer Syndrome family website.
PSS is a rare genetic condition signified by a deletion of section 11.2 on the short arm of chromosome 11, we refer to it as 11p11.2.
This website is created by families for families as formal medical documentation is as rare as the condition itself. Since 2013 we have connected with over 150 families affected by Potocki Shaffer Syndrome and through our support group we have discovered a broad range of symptoms but also many anecdotal similarities which we have documented on this website. We are not medical experts, just parents hoping to help other parents, who are embarking on their own journey with a new Potocki Shaffer Syndrome diagnosis.
I had a normal pregnancy until right around 22 weeks- we were told Brady may have trisomy 18 and the specialist told us it was "incompatible with life." We immediately did an ultrasound which came back (after a long wait over the Christmas holiday) that all was normal. I didn't give it another thought - I was just so thankful.
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)...
After a bit of a struggle with infertility, we were blissfully enjoying my pregnancy as we awaited the birth of our second child. I had a normal pregnancy until the 20-week ultrasound. We expected to find out the gender of our child and hear that our baby was healthy, and all was well. Instead we found out our baby girl had three soft markers possibly indicating a chromosomal abnormality of some kind...
