Pallister Killian Syndrome, or PKS, is so incredibly rare that only 200 people have been diagnosed with it in the entire world, but the numbers are increasing. Doctors believe that many others are afflicted with PKS in it’s varying degrees of severity. Because it is extremely difficult to detect in DNA tests, it is almost impossible to diagnose. Doctors say that Brianna having PKS is a “fluke” and the cause is unkown.
Brianna is blind and has profound cognitive and physical disabilities. She cannot walk or talk and studies indicate that 96% of children with PKS develop seizures by age six. Brianna’s extremely low bone density puts her at risk for broken bones and osteoporosis, so special equipment and therapies are crucial. Areas of Brianna’s brain are not developed due to the genetic disorder and intensive therapy helps foster the development of her brain forming new neural pathways. Brianna requires constant stimulation of her senses and muscles or her doctors warn that she will regress and the results would be devastating.
Despite Brianna’s profound disabilities, she is happy little 5-year-old. She adores her older brother and big sister who absolutely love her. Although having a child with disabilities is hard work and requires much sacrifice, Brianna is well worth everything. She lives each moment to it’s fullest and teaches all who know her a deep sense appreciation for life and living in the moment. She is pure and unconditional love!