My family and I are proud to share that Governor Dayton is recognizing Pallister Killian Syndrome (PKS) for the fifth year in a row by proclaiming Friday, Dec. 4, 2015 as PKS Awareness Day for the state of Minnesota! I hope you’ll read our story and join us in spreading awareness, knowledge and acceptance for children like my 11-year-old son, Andrew, who is living with PKS.
A Mysterious Diagnosis
On December 26, 2004, Andrew Jacob entered this world on his terms: 3 weeks early weighing an impressive 9 lbs. 3 oz.! Ultrasounds had shown “markers” of Andrew being special, but nothing could have prepared us for this journey we now call living in the silver lining of life.
At 4 months old, genetic testing diagnosed Andrew with a condition called Beckwith Wiedemann Syndrome, an overgrowth syndrome often linked to childhood cancers. Because this syndrome had high expectations cognitively, we were hopeful. As time would prove, Andrew was different. He did not meet basic milestones. He was not sitting, crawling, babbling, looking or connecting with his world around him. My guilt was enormous. I felt I had caused this somehow.
My husband and I flew to Boston when Andrew was 4 ½ years old to attend a Beckwith Wiedemann Conference in hopes we would find just one story like ours. Through videos and stacks of paperwork, we showed Dr. Beckwith himself our beautiful boy. Dr. Beckwith told us to go back to our geneticist and keep looking for the correct diagnosis.
Andrew’s Family Finds Answers
Back in Minnesota, our geneticist listened to our request and showed a new colleague Andrew’s picture. That colleague had recently seen another child that resembled Andrew with a syndrome called Pallister Killian Syndrome or PKS. While Andrew was sedated for another procedure, a biopsy was obtained. It proved that Andrew did indeed have PKS.
What is PKS? It’s so rare most doctors have never heard of it before. There are less than 300 people diagnosed worldwide. It is a mosaic syndrome, which means PKS is not in every cell. It occurs on chromosome 12 and has 4 copies of the short arm “p”. It is very difficult to diagnose in the blood as there is such a fast cell turnover rate that results in inaccurate testing.
Andrew is affected by PKS with severe global involvement. He has many symptoms of the condition, including seizures, very low muscle tone, deafness and blindness, severe scoliosis, hip dysplasia, severe developmental delay and respiratory issues—just to name a few. To give you an idea of how rare this condition is, Andrew is one of only two individuals in the state of Minnesota who has PKS.
“Awareness is Getting Our Life Back”
Although Andrew’s diagnosis was pretty tough to take, we are thankful we have the correct diagnosis. I was able to move on and create a plan for our son and for our family. It gave us the appropriate support to deal with the daily challenges we face raising a special child like Andrew.
Andrew is currently recovering from the second surgery at Gillette Children’s Specialty Healthcare to correct his hips due to hip dysplasia. Kevin Walker, M.D., has taken incredible care of our son, and us as Andrew’s parents, during a more physically challenging time. We can’t say enough about our care during our stay this year, and last for the surgery and the intensive therapy that followed. Gillette felt like home. We felt reassured that Gillette treats many children with complex and rare disorders. We didn’t have to explain to staff about Andrew’s needs but instead Gillette was there to teach us.
I believe that creating conversations about kids like Andrew is a good start in opening people’s eyes, ears and hearts to kids who have disabilities. The need for awareness is great for families like ours. It’s is vital for medical staff and social workers, so they can help us keep our kids healthy and keep them home where they will thrive. It’s similarly crucial for the school system and the entire community, so people feel comfortable asking about our special child and building friendships that make life so much better for us and him. Awareness means giving us our life back.
Photo at top left: Andrew hiking with his family. Photo at bottom right: Andrew with his sisters.