Australind family fighting for more awareness of young son’s rare genetic disease Pallister-Killian syndrome

“We shouldn’t have to fight for people to believe us.” Those were the words of Australind mother Jaya Polidano, whose son Mitchell, 21/2, is one of about 500 people in the world living with Pallister-Killian syndrome. The rare genetic disorder occurs when chromosome No.12 grows two extra legs, and is a mosaic condition, meaning the person has extra chromosomal material in some, but not all, cells of their body. There are 15-20 known cases in Australia and each differs significantly, according to the PKS Foundation of Australia. Signs and symptoms of the condition vary from case to case and include seizures, global development delay, feeding problems, hearing or vision impairment and intellectual impairment. Little Mitchell was the third in the world to live with both PKS and diabetes, Ms Polidano said. “It makes him so different to other cases ... his seizures are uncontrollable with medication,” she said. “We don’t know how to overcome it without any research being done.” Ms Polidano said she was frustrated with the lack of information available about the condition, and tired of having to fight for doctors and funding providers to believe her calls for help. She said they were lucky to finally have doctors who listened to their concerns, but other families were still having to push harder than should be necessary to be believed. “Mitchell has a very low immune system, so what could be a simple cold can turn into something terrible in a short time,” Ms Polidano said. “Because there is so little information out there, we’re often educating the health professionals. “No one knows enough, so we would often get overlooked by doctors. “Now we have doctors who listen, but you have to fight hard to get there.” On one occasion, Mitchell was misdiagnosed when he was in diabetic ketoacidosis, a serious complication of diabetes that occurs when the body produces high levels of blood acids. “The doctor said it was his syndrome and didn’t believe us, but it wasn’t,” Ms Polidano said. “Mitchell’s condition is so rare that we can’t access some of the available grants because he doesn’t meet the normal criteria,” she said. “For the first year we were privately funding everything while we waited for the National Disability Insurance Scheme ... it was so expensive. They query us so harshly as if he’s suddenly not going to have PKS anymore.” Ms Polidano is calling for more awareness and research into the condition to help her family and those living through it across the world. A quiz night is being held at the South West Italian Club at 6pm on July 17 to raise funds for the PKS Foundation, which Ms Polidano said would help families like her own when they were stuck in hospital for months and struggling to get by or in need of equipment and accommodation.