Casper Walczak, a 10-year-old from Newport, is thought to be the only child in Wales living with PKAN (pantothenate kinase-associated neurodegeneration), a rare, progressive and currently incurable genetic neurodegenerative disorder. He was diagnosed when he was nine.
His father, Łukasz Walczak, told WalesOnline: "Casper has an incredibly rare and devastating disease that has completely changed our family’s life."
The disorder slowly takes away a child’s independence, progressively affecting movement, balance, muscle control and speech, eventually making it increasingly difficult to walk, eat and carry out everyday activities independently. Casper's family say there are only around 20 children affected by PKAN across the whole of the UK.
Daily challenges and ongoing treatment
"Casper is only 10 years old, but he is already facing challenges that no child should ever have to face. His biggest problem at the moment is dystonia, which causes painful and involuntary muscle contractions," Mr Walczak said.
"His mobility is gradually getting worse, he struggles with balance and pain, his speech has changed significantly, and he is also developing scoliosis. Despite all of this, Casper continues to fight every single day."
Casper, a year six pupil at Alway Primary School, still loves swimming, cycling, LEGO, cars, video games and adventures. He is currently taking part in an experimental treatment trial, while intensive rehabilitation and specialist care are also important in his daily fight against the disease's progression.
No cure and limited research
"Sadly, there is currently no cure for NBIA-PKAN. Because the condition is so rare, there is very limited awareness, research and funding," Mr Walczak said. "For families like ours, there are very few answers and no certainty about what the future will bring. We are fighting not only for Casper, but also to make sure that children with rare diseases are not forgotten simply because there are so few of them."
Mr Walczak said he wanted to share his son's story with as many people as possible. "We want people to know that these incredibly rare diseases exist," he said. "We want people to understand what children like Casper and their families go through every day."
Fundraiser and community support
A GoFundMe fundraiser has been launched to raise cash to provide Casper with intensive rehabilitation, specialist therapies and essential equipment, all of which are extremely costly in the UK and not always available through the NHS.
Mr Walczak thanked doctors, specialists, nurses and medical professionals, as well as Belle Vue Aces Speedway Club, Alway Mums, Ty Hafan, Dreams & Wishes Charity and his colleagues at Ty Enfys care homes for their support. "Every act of kindness gives Casper and our family more strength, hope and support to keep fighting," he added.
