Brian was born in 1982, a full term baby with no obvious signs of differences at birth. He was developmentally slow with notably “floppy” muscles. He was slow to sit up, walked at about two and a half years, needed eye surgery because of eyes that drifted outward, had a large umbilical hernia, and as can be seen from his photo has many facial features associated with PKS. He was diagnosed at three and a half with PKS, however, we had started looking for answers to his delays when he was about four months old. His speech is limited although he can easily express the things that he most wants to communicate. Brian has two brothers, one older and one younger. Today Brian lives at home with mom and dad. He is in a home and community based services program and goes to a day program. He loves playing with his dog, hanging outside and watching the neighborhood activities. Brian loves to travel by planes, trains and automobiles. He also enjoys going to restaurants, movies and other entertainments. Brian is an engaging pleasant person. Our lives have all been different because of Brian and everyone in our family has a story of why they find Brian such a great guy.