Siblings Faith Sinclair and Daniel Peach’s lives are overshadowed by a rare and devastating disease many people have likely never heard of.
Sialidosis is a metabolic disorder caused by a defective gene – NEU1 – which leads to irreversible symptoms.
There are only around 55 people diagnosed worldwide.
“Sialidosis is a progressive disorder, so you start off with symptoms, for me and my siblings we were aged 18 and as we get older it obviously gets worse,” Sinclair told Breakfast.
“So day to day it gets harder because of the symptoms that we have.”
The symptoms look different for every person.
“For some people it’s balance, some it’s eyesight, some people it’s speech but basically those symptoms progress until you can’t walk and talk and interact with the world, so it progresses until everyday life is difficult,” said Peach.
Their older brother Antonn died aged 42 from the disease. Once a strong builder, he lost the ability to walk, speak, and hold objects. Despite seeing top neurologists, his condition went undiagnosed. As a teen, Faith became his caregiver, watching him deteriorate before his death.
“For me, Antonn was an absolute pillar of strength, resilience and hope and that’s what I feel I’ve learnt from him and carry forward in everyday life,” she said.
“For him he always had hope that this thing that he had which was undiagnosed for two decades was something he was able to overcome, just unfortunately that wasn’t his future.
“I’ve had the fortune of specialist advice the entire time, my brother didn’t have that,” added Peach.
Historically there’s been no treatment for the condition. But now the pair say there’s hope – a groundbreaking gene therapy from St. Jude Children’s Hospital and the University of Massachusetts that could reverse the disease with a single injection.
But the clinical trial comes at a steep cost.
Their goal is to raise $1 million ($500,000 each) to cover the costs of the therapeutic gene production.
“Honestly if we were able to get it not just for ourselves but for the community, it’s life changing,” Sinclair said.
“There’s people obviously that are wheelchair bound, they would be able to get out of their wheelchairs, they would be able to feed themselves, to change themselves.
“There’s so much that this gene therapy could improve and give people back their independence that they’ve lost, that they will have a future, that they’ll get to spend time and quality time with family again and that’s just absolutely incredible.”
