Five-year-old Beau is a true cowboy.
Born and raised in Taralga, a small town near Goulburn, Beau has a passion for rodeos and particularly enjoys the thrill of watching the bull and sheep riding events. He wants to become a professional bull rider when he grows up. His dreams are big but so is the journey ahead.
Beau, one of our 2016 Radiothon Ambassadors, has a rare degenerative genetic disorder known as Mucopolysaccharidosis IVA-Morquio Syndrome (MPS IVA). The condition causes various bone and skeletal abnormalities and is estimated to affect just 3000 people worldwide. Sadly though, there is currently no cure.
Beau’s family received the devastating diagnosis just after his first birthday.
“Beau didn’t present with the typical traits for MPS IVA, which is why it took so long to diagnose. He was growing too quickly in utero and then was growing two centimetres every two weeks after he was born. This alerted us to a problem. We were initially looking at overgrowth conditions but after 13 months of testing, doctors diagnosed Beau with MPS IVA,” his Mum, Sam, said.
“We were totally devastated. It’s a terminal condition and because it’s so rare there was not a lot of information and the information that was available was dire. We mourned the future we had envisioned for him.”
For Beau, his condition means he has short stature as well as issues with his eyes, ears, respiratory system, hips, legs, back and hands. He has already needed 14 operations, countless MRI’s and a host of other specialist appointments.
Normally these issues would continue to worsen with age but thankfully for Beau, doctors had a plan.
When he was three, doctors started Beau on enzyme replacement therapy as part of a clinical drug trial and it has turned his life around.
“Thanks to our awesome metabolic team and the drug trial, Beau can still walk, attend school and play cricket with his friends. We mourned over our dreams for him at diagnoses but now with the drug trial, we have them back. Ultimately, we now can hope for him to be a happily married adult with kids if that’s what he wants,” Sam said.
Beau is required to have the enzyme replacement therapy weekly. Every Tuesday, Beau and his family embark on the 500 kilometre round trip from his hometown to the Hospital for his six-hour infusion. It is a huge journey but one that his Mum, Sam, says is just part of life now.
“The Hospital has become our second home. We have been there once a week for the last 142 weeks but our surgeons have all done brilliant jobs and we love our nurses. The staff have made a pretty horrible experience not only bearable but lots of fun.”
While brave little Beau’s treatment will be ongoing and he is expected to need between 30-50 surgeries in his lifetime, for now, the future is optimistic.
“The Children’s Hospital at Westmead has not only given us hope, it has given Beau a future.”