Sam McCormack was barely one when he was diagnosed with a rare genetic disease in which most children don’t live past age 10.
His family now shares the story of the brave little boy raising money for a life-saving rare disease center run out of Perth Children’s Hospital.
Born alongside his twin brother Brody, Sam initially showed features of spinal kyphosis, a severe curvature of the spine, which led to Sam’s parents, Bibiana and Bernard, taking him to various specialists.
DISCOVER THE LATEST NEWS NEAR YOU WITH PERTHNOW DIGITAL EDITIONS
After seeing experts from physiotherapists to neurologists, then waiting six weeks for blood test results, the McCormacks finally got a call asking to take Sam to Perth Children’s Hospital.
Sam’s diagnosis of MPS 1, a lack of an enzyme in the body that causes a buildup of sugar molecules, leading to organ damage, made Ms. McCormack “heartbroken” behind.
Camera icon Sam McCormack with his father, Bernard. Credit: Stephen Heath/Stephen Heath Photography
“Finding out that your son has a complex, rare disease that they don’t normally live with is so scary,” said Ms. McCormack.
“It’s a disease that affects the body because it’s a change in the gene that makes an enzyme, so it affects the brain, heart, and almost every part of the body.
“There’s a one in 100,000 chance of carrying the gene – which Bernard and I both do.
“From the moment Sam was diagnosed, we were just thrown into the hospital system.”
After numerous appointments with more specialists and lengthy weekly enzyme infusions, the McCormacks began preparing Sam for a bone marrow transplant in the hopes that it would stop possible damage to his brain.
However, after a “traumatic” transplant and three months of recovery in PCH, Sam deteriorated further, forcing the McCormacks to move to Queensland for a second transplant.
Twenty-two days after the transplant, Sam’s cells began to return.
Ms. McCormack said it was difficult for her family to move from Perth to allow Sam to undergo his second transplant.
Camera iconThe McCormack family. Credit: Stephen Heath/Stephen Heath Photography
“It was difficult to move to Queensland and be away from our extended family, especially my sister and mother,” she said.
“With MPS, I know there’s a lot more exposure in the US and beyond in the UK, but I suppose we’re so isolated here in Perth.
“It would be great to have a dedicated care center and hospice in Perth as navigating the hospital system and all the individual departments can be very difficult.
“So to have everything under one roof would be so good — especially for the parents.”
To help care for children with rare diseases in WA, the Perth Children’s Hospital Foundation launched a funding commitment for the world’s first clinical center of excellence for rare diseases this year.
Funded by the PCHF, the center will improve community awareness, early identification of children with potential rare diseases, and enhanced support for WA families to help the 63,000 children in WA who suffer from rare diseases.
Camera IconSam with his mother, Bibiana. Credit: Stephen Heath/Stephen Heath Photography
After spending two years in and out of the hospital, Ms. McCormack said Sam, now four was doing “great” with above-average levels of enzymes.
“Obviously, he’s still missing something, but he’s doing well and continues to learn new things,” she said.
“His speech is slowed down, and his body is different, and we’ll have to deal with his spine and other things later, but he brings our family so much happiness.
“As a parent, it’s very vrd to see your child go through that because you feel helpless, but Sam is a fighter.
“II hope that his life is full of happiness and that we can continue giving him the best.”
Donate at pchf.org.au/appeal to help children with rare diseases like Sam and make the Perth Children’s Hospital Clinical Care Center a reality.