PKS (Pallister-Killian Mosaic Syndrome) Awareness Day is scheduled for Dec. 4.  Families and members of PKS have official proclamations and yearly events in Wisconsin, Pennsylvania, Missouri, Minnesota and Michigan.

 

Pallister Killian Syndrome is a chromosome abnormality when a tetrasomy (4 copies) of the short arm of chromosome 12 (12p) occurs for no known reason. It is a rare genetic disorder caused by a double duplication of the short arm of chromosome 12. Symptoms include hypotonia, hearing and vision impairment, seizures, diaphragmatic hernia, mild to severe developmental and cognitive delays and more.

 

Nicole and Paul Schmidt of Becker have a child, Andrew, who is affected by this disability. PKS is extremely rare, affecting fewer than 300 people in the world. 

 

Andrew is deaf/blind, does not walk, does not talk and needs full assistance for his entire being. He needs consistent and frequent therapy to help him optimize his potential.

 

Many of the PKS families do not have the help they need, nor the tools in their homes to take care of our children safely.

 

Last year, the Schmidts  went to the Becker Primary School and talked about PKS and kids with disabilities in front of the student body and staff.  They created a short video for the kids to watch while a few of Andrew's friends talked about what they love doing with Andrew.

 

“We focus more on what they have that is similar, than what makes Andrew so different,” says Nicole.  

 

They also had a question and answer time.  Nicole and Paul brought treats for Andrew’s class along with pencils and brochures on PKS to the rest of the kids and staff.  

 

Other things the Schmidts have done to create awareness was hosting an ice cream social and held a PKS Walk.  

 

Andrew is currently at Gillette Children's Hospital in St. Paul going through 10 days of intensive rehab following bilateral pelvic and femoral osteotomies surgery Oct. 7. He spent a week there, then returned home for five weeks and is now going through restoration. 

 

“It is really a hip reconstruction surgery to protect the joints he has and prevent arthritis that would diminish his mobility that he has worked so hard to have thus far,” said Nicole.  “He had bilateral hip dysplasia, where his right hip was 95% out of the socket and his left was about 50% out of socket.”  

 

Nicole said they had to cut both femurs, notch them and place them in correct position of the socket that they also had to create as it was "flat". 

 

“They also ‘tightened up’ very loose and thick cartilage that took the place of a socket,” she said. “They used bone grafting for both procedures.”  

 

Dr. Walker was the main doctor who worked on the right hip and Dr. Novacek worked on the left hip simultaneously for a surgery that took approximately seven hours plus an hour of casting into a 25# plaster body spica cast.  

 

“This realization of his hip dysplasia is definitely related to PKS in the fact that he has such low muscle tone which impacted his mobility milestones,” Nicole said. “He just didn't develop the way we are intended to.”

 

The Schmidts are selling t-shirts online to help fray the costs of medical treatment for Andrew from their PKS store located at: pkskids.bigcartel.com.

 

The Schmidts say all money raised for PKS research and treatment is raised by affected families and her goal is to raise and contribute $10,000 this year.

 

“Money raised for PKS kids goes for current research, education, awareness, equipment grants for families and mostly our bi-yearly medical conference where families from all over the world meet for three days,” said Nicole.  “We learn of the newest research, doctors, teachers but mostly we learn from each other.  It is invaluable for us and it has become a highlight for our family to connect with others who are going through this journey with us.”

 

One of the things Andrew is affected most by the PKS disorder is seizures.  He currently takes medication for them, which helps minimize the episodes and after affects.  

 

In addition to seizures, Andrew has vision and hearing loss and has to wear hearing aids. He has had multiple surgeries to his ears to optimize his hearing. 

 

His vision, however, is a processing disorder, so he just may not understand what he is seeing. But with time and repetition, he may learn more detail and a better  understanding of the object or person. 

 

Nicole says Andrew has received multiple therapies and continues outside therapy to help his strength to walk, talk and eat and she says those skills are improving every year.  

“Last year we saw his biggest growth as of yet,” Nicole said. “We attribute most of it due to the fact that Andrew came back to his home district school and was so welcomed by the staff and students that he just blossomed!”  

 

She said it was a year we just wanted to bottle up.  

 

“It went against everything we should typically do for him as far as school goes, she said. “But our hunch to have him home and loved by those who love us, was another gut feeling spot on.  He adores his friends and absolutely loves school.”

 

Despite his difficulties, Andrew has “wowed” his family throughout his nine years of life but a significant “wow’ came just recently when he verbally expressed himself.

 

“We hit a milestone that we have been working towards for the last nine years,” said Nicole. “He verbally says mama and ‘mo’ for more.”

 

She also points to other milestones including, when they heard how he walked 3/4 of the track when it was a running day for PE. When the Schmidts get reports that he is motivated at school by the playground and he walks up the stairs. When he walks the "plank" and sits nicely so he can go down the slide. 

 

“We have joy when he is doing and enjoying things that many kids his age enjoy,” she said. “Just being a kid!”   

 

PKS Kids day is held to aid the families in need. The Schmidts feel blessed for the continued support of family and friends and even strangers in the community they call home.

 

“Thank you all for your support and love,” said Nicole.  “We truly have a wonderful community and it is taking a village to raise this special boy. We hope that by watching Andrew grow, your eyes are opened as well as hearts to those who may be suffering and you extend an act of kindness, a simple gesture of a kind word, a smile, invite that ‘special’ friend to a party, visit a hospital — then we know Andrew's story is helping others.”