Nicole and Paul Schmidt of Becker have a 10-year old son named Andrew. Andrew is deaf/blind, does not walk, does not talk, and needs full assistance to live day to day life.

 

Andrew has Pallister-Killian Mosaic Syndrome or PKS, which is a chromosome abnormality when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason. Symptoms include hypotonia, hearing and vision impairment, seizures, diaphragmatic hernia, mild to severe developmental cognitive delays and more.

 

PKS is extremely rare, affecting fewer than 300 people in the world. Without awareness of this syndrome and how to diagnose it properly, thousands of children and young people could be going undiagnosed.

 

Without a diagnosis, it is more difficult to obtain the proper treatments and services the child may need.

 

PKS is very hard to diagnose and a main cause for the undiagnosed cases is the method of testing. PKS can be diagnosed in utero via amniocentesis, occasionally even which has produced a false negative.

 

After birth, diagnosis is best made by a buccal smear (although a skin biopsy can be as accurate). The blood cells in the body quickly regenerate and the mosaic cells leave the bloodstream after just a few days, making a diagnosis via bloodwork inconclusive or falsely negative.

 

In 2010, Gov. Tim Pawlenty proclaimed Dec. 4 as PKS Awareness Day.

 

Nicole Schmidt helped to make that possible as she wrote the proclamation after a discussion with Sec. of State Mary Kiffmeyer, regarding the need for awareness to better care for these special children.

 

For families with PKS, there is an organization that is all about helping. PKS Kids is a non-profit organization aimed at helping all people involved with Pallister-Killian Syndrome. For parents and other family members of loved ones with PKS can expect to learn all about PKS while interacting with other families from around the world. 

 

The Mission for PKS is to promote research, provide education, and raise awareness within the medical community in order to ensure early diagnoses of children with Pallister-Killian Syndrome. They also help to provide resources and support to families, therapists and caregivers of children with PKS.

 

Many PKS families do not have the help they need, or the tools in their homes to take care of PKS children safely which is why Schmidt serves as a board member for the non-profit organization PKS Kids and is assisting with research through CHOP and offering grants to families affected by PKS. PKS kids also host medical and family conferences where parents are able to speak with and learn from specialists and other families. 

 

Saturday from 5 to 9 p.m., Lupulin Brewing and PKS Kids presented a night of education, awareness and support while celebrating MN PKS Awareness Day! There was a giving tree for people to sponsor a PKS kids by purchasing a pair of Christmas jammies. 

 

There was live music by Joe Perry and special guest Natalie Erhard, poetry reading by Rhonda Gilbertson and a 50/50 raffle, the winner receiving 50% of the pool and 50% going to PKS kids. A pot luck, trivia and auction prizes were also part of this wonderful event.

 

Schmidt said that these events are an important platform to raise awareness for special needs as well as communication and friendships. Nicole also said her goal is to help people get to know about Andrew and PKS.