Oliver ‘Ollie’ Chu with dad Ricky.

Just a few months ago, his life was dominated by weekly hospital visits and painful enzyme infusions. Three-year-old Oliver ‘Ollie’ Chu from California was born with Hunter syndrome, a rare genetic disorder often described as childhood dementia.

Now Ollie is making history as the world’s first successful gene therapy patient for this cruel condition. Ten months after receiving revolutionary treatment at Royal Manchester Children’s Hospital, the toddler is thriving in ways that have amazed both his parents and the medical team who treated him.

Instead of those relentless hospital visits, Ollie is now producing crucial life-saving enzymes on his own.

“I’ve been waiting 20 years to see a boy like Ollie doing as well as he is, and it’s just so exciting,” says Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the University of Manchester.

“Since having the gene therapy Ollie is no longer having weekly Elaprase infusions, but instead of seeing levels of the previously missing enzyme dropping, we are seeing very high levels in his blood and this is an extremely encouraging sign that the treatment is working.”

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Hunter syndrome, also known as mucopolysaccharidosis type II, affects roughly 1 in 100 000 male births. Children born with this disorder lack a crucial enzyme needed to break down complex sugar molecules.

Without this enzyme, harmful substances gradually build up throughout the body, causing stiff joints, hearing and breathing problems, heart complications, severe developmental delays and cognitive decline similar to dementia.

Most children don’t survive past their teenage years.

In February Ollie became the first patient in a groundbreaking clinical trial. The one-time gene therapy treatment involved removing his stem cells, correcting the faulty gene and reinjecting the modified cells back into his body.

Unlike traditional treatments that can’t reach the brain, the engineered stem cells can cross the blood-brain barrier and produce the missing enzyme where it’s needed most.

The treatment has been life-changing. “I want to pinch myself every time I tell people that Oliver is making his own enzymes,” says his mother Jingru. “Every time we talk about it I want to cry because it’s just so amazing.”

His father Ricky has witnessed dramatic improvements across all areas of development. “His life is no longer dominated by needles and hospital visits. His speech, agility and cognitive development have all got dramatically better.”

However, the Chu family’s joy is tempered by concern for their older son, five-year-old Skyler, who also has Hunter syndrome.

Due to his age Skyler couldn’t participate in the clinical trial and continues with traditional infusion therapy, which helps his body but can’t protect his brain from the disease’s progression. Skyler is already showing signs of delayed development in speech and motor skills.

“It feels like Oliver has got a reset in his life and I want the same thing for Skyler, even though he’s a bit older,” Ricky says. “My wish upon the star is for Skyler to be able to get the same treatment.”

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While Ollie was the first of five children to receive the treatment, his success has energised researchers and given hope to families worldwide dealing with rare genetic conditions.

“We think it’s wonderful that there is research being done on rare conditions,” Ricky says.

“Our priority is our children but knowing that this could result in helping other children around the world is very meaningful for us. We hope that one day a treatment becomes available for all children.”

For now, the Chu family is focusing on watching Ollie continue to grow and develop – milestones they once thought impossible.

“Our hope for Ollie is that he will continue to make his own enzymes and live a normal life without infusions.”

SOURCES: MANCHESTER.AC.UK, BBC.COM, PEOPLE.COM