When Sam and his twin brother, Brody, were born, his mum and dad suspected something was not quite right. Sam displayed the features of spinal kyphosis, curvature of the spine.
After visits to a succession of health professionals, blood tests revealed Sam’s condition, MPS1. The lack of a certain enzyme causes a build-up in the body of sugar molecules leading to cell, tissue and organ damage. The condition affects every part of Sam’s little body.
Sam and his family were thrust in the hospital system. Life became a whirlwind of doctors’ appointments and preparations for a bone marrow transplant. To help slow the damage to his body, Sam needed weekly enzyme infusions that took the whole day.
A little fighter, Sam endured two bone marrow transplants. The first was fraught with problems. He got sicker and sicker and ended up in ICU twice and needed several operations. It was distressing to watch and support Sam in his battle.
Fortunately, the second transplant was successful giving Sam a fighting chance at a normal life. After a two-year hospital journey, his enzyme levels are now in a healthy range, and he is strong and full of energy. His family knows there will be issues to deal with down the track, but for now, they just want to give Sam the very best life possible.
Sam’s condition is extremely rare, but he is not alone.
More than 63,000 West Australian children are living with a rare disease, and they need your support. Rare diseases place an immeasurable burden on families. Some children wait years for a diagnosis – the average is five, and 50% are misdiagnosed, often more than once. It is a lonely and stressful journey, but research can give parents some answers.
With your support we can give these children a better quality of life and relieve the immense toll on families. Make a tax-deductible donation to Perth Children’s Hospital Foundation by June 30 to fund life-changing research and care.