Chu Family
Oliver Chu has a rare inherited disease called Hunter syndrome.
A three-year-old boy left doctors amazed with his progress after becoming the first person in the world with Hunter syndrome, a devastating inherited disease, to receive a groundbreaking gene therapy. “It’s simply incredible, I feel like crying”, says the boy’s mother.
The little one Oliver Chu suffers from a rare hereditary condition called Hunter syndrome, or MPSII, which causes progressive damage to the body and brain.
In the most severe cases, patients with this pathology usually don’t survive more than 20 years.
The effects of this devastating disease are sometimes described as a kind of childhood dementia.
Children with severe Hunter syndrome cannot decompose appropriately complex sugar molecules and present broad symptoms, including rapid and progressive learning and memory problems, heart and lung dysfunction, hyperactivity and behavioral problems, bone and joint malformations, in addition to hearing loss.
This inability to break down sugars is caused by a defect in your genetic code: the gene responsible for producing an enzyme called iduronate-2-sulfatase (IDS) does not work properly.
Due to this faulty gene, Oliver was unable to produce the enzyme essential to keeping cells healthy.
Last year, a medical team from the Royal Manchester Children’s Hospital in the United Kingdom managed, for the first time, stop the disease by modifying cells from Oliver via gene therapytells .
“I waited 20 years to see a boy like Ollie evolving as well as he is, and it’s simply exciting”, the professor tells the BBC Simon Joneswho co-led the investigation.
“We managed to see that is improving, is learning, already has new words, new skills, and moves much more easily”, says the teacher. “We have to be careful and not get carried away too much by enthusiasm, but at the moment things they are as good as we could hope”.
One year after starting treatment, Oliver now appears to be developing normally. “Whenever we talk about this, I feel like crying because it’s simply incredible”, says the boy’s mother, Jingru.
Hunter syndrome almost exclusively affects boys, with a proportion of only 1 in every 100,000 births. One of the great challenges of this disease, which can be fatal, is that treatment methods cannot cross the blood-brain barriersince the main manifestation of the inability to break down sugars occurs in the brain.
In theory, the treatment used by the Royal Manchester Children’s Hospital team would have a window of applicability in children from 3 months to 1 year of age.
Initially, it was believed that Oliver would already be too oldbut a series of tests concluded that there was a margin for the therapy to have an effect — and so it happened. Unfortunately, Ollie’s older brother, Skyler, aged 5who also has Hunter syndrome, is no longer eligible to receive treatment.
