Kellan W.

Kellan calls attention to PKS Awareness Day!

December 4, 2018

Today, December 4th, is Pallister Killian Syndrome Awareness day!

Kellan’s Mom Misti shared this special message with us: 

"Today is always a little more emotional because on top of it being PKS awareness day, it is also this day exactly 5 years ago that Kellan was diagnosed with this extremely rare syndrome."

PKS is caused by the presence of an abnormal extra chromosome. Children with PKS have extremely weak muscle tone in infancy and  display facial features that are common to the syndrome including a high forehead, broad nasal bridge, and a wide space between the eyes. 99% of children with PKS falsely test normal for chromosomal testing because it is a mosaic syndrome however It can usually only be detected by cheek swab or skin biopsy.