Late one night, Rylee Jebara woke to see dark objects lingering around his room.
“I was like, ‘That’s it, I’m seeing ghosts, I’m going to die,'” the aspiring artist said.
As those dark objects slowly came into focus, the 17-year-old realised they were just shadows of the doorframe and the furniture in his bedroom.
Then it dawned on him; he was able to see at night.
“I was absolutely terrified because I hadn’t been able to see at night before, even as a child, with my vision impairment,” he said.
Months earlier Rylee became the first Australian to receive a groundbreaking eye therapy that helps treat an inherited retinal disease that leads to blindness.
The second Australian to receive the therapy was his younger brother, 15-year-old Saman.
Saman’s vision loss hadn’t progressed as far as Rylee’s but was still significant.
“I wasn’t completely blind. I could see at the daytime but not at night-time. At night-time, it’s pitch black,” Saman said.
Both siblings were babies when they were diagnosed with leber congenital amaurosis, a severe form of retinal dystrophy.
It meant they both had low vision, especially in dim light.
Their overall vision became progressively narrow, blurred and colours would fade until, eventually, they would lose their sight.
By the time Rylee was in year 6, he walked with the assistance of a cane. By high school, his deteriorating vision meant he had to learn new skills to navigate, including asking people for help.
He said the stress meant he started to withdraw socially, as he became anxious about losing one of his senses.
As his vision deteriorated, so too did his grades, and he decided to drop out of school at the start of year 11.
Last year, his ophthalmologist suggested a new gene therapy designed specifically for people with his extremely rare eye condition.
After several rounds of tests, a group of experts agreed he met the criteria.
Treatment used only ‘a handful’ of times
The therapy called voretigene neparvovec, sold under the name LUXTURNA, was injected into the back of one of his eyes.
It’s designed to treat mutations in the RPE65 gene, which is essential for good vision. It works by using a neutralised virus to carry a functional gene into the affected eye tissue. That enables the body to produce any proteins missing due to genetic mutation.
A month later, the surgery was repeated on Rylee’s other eye. The therapy then started working to repair his damaged gene.
This medication is the world’s first gene therapy to treat a blinding eye condition, and one of the first gene replacements for any human disease.
It was approved for use in Australia last year and has only been used a handful of times around the world.
The treatment, which is free in Australia, doesn’t work on everyone who has the condition, even if a patient is eligible for it.
Rylee and Saman’s eligibility was assessed by a team from Ocular Gene and Cell Therapies Australia.
It is a collaboration between researchers and clinicians from the Genetic Eye Clinic at Sydney Children’s Hospitals Network (SCHN), the Eye Genetics Research Unit and Stem Cell Medicine Group at the Children’s Medical Research Institute (CMRI), the Save Sight Institute at Sydney Eye Hospital, and the University of Sydney.
“One of the really revolutionary things in relation to inherited retinal diseases is that we’re now able to actually make a genetic diagnosis,” Robyn Jamieson, head of the Eye Genetics Research Unit at SCHN and CMRI, said.
Professor Jamieson said that wasn’t the case 20 years ago when doctors struggled to even find a genetic diagnosis for patients like Rylee and Saman, let alone offer a therapy.
“We’re now able to find those genetic answers,” she said.
“By putting in this gene therapy, we can replace that faulty gene and it then works properly within the cells at the back of the eye to give the person a rescue of their vision and then also some improvements in their vision.”
While neither Rylee nor Saman will ever have perfect vision, Professor Jamieson says the benefits of the treatment are immeasurable.
“Patients like Rylee [can] read print when they hadn’t been able to before,” she said.
The use of gene therapy to treat genetic disorders dates back to the 1970s. In simple terms, it is when a person’s defective genes are medically replaced by healthy ones.
And while gene therapy has had huge success, at other times it has yielded devastating outcomes, including the death of a patient in a clinical trial in the 1990s. ‘Bubble boy’ disease cured with gene therapyBabies born with a rare, life-threatening genetic disorder that leaves them with little to no immunity have been cured with an experimental gene therapy.Read more
Those setbacks have slowed the development of gene therapies, but many scientists and doctors are hopeful they can one day be used to treat a range of conditions.
Sydney haematologist and scientist John Rasko is one.
“If you’d asked me 25 years ago whether gene therapy would be able to treat or cure blindness, I would have been very sceptical,” said Professor Rasko, the head of cell and molecular therapies department at RPA Hospital in Sydney.
“But here we are now with a real treatment that’s changing lives.”
His department has been using gene therapy to try to treat conditions like haemophilia and thalassaemia, and cancers like leukaemia and lymphoma.
But Professor Rasko said one of the challenges with gene therapy was in its delivery — some bodies just don’t accept it.
“We had to overcome the immune system because it often prevents viruses which we used to ferry the genes into getting to where they need to do their work,” he said.
‘I saw my first star’
For Rylee and Saman, they are reaping the benefits.
Saman said as his night vision had improved, so had his self-confidence.
“It made me feel great [that] I can see stuff, so I don’t have to trip on a bunch of stuff,” Saman said.
“I’m able to walk at night and I’m able to go out with friends at night.”
For Rylee, his improved vision has also allowed him to resume his creative art.
“Up until right before the procedure, I was in such a deep depression” he said.
“[I] couldn’t draw on physical paper anymore and I couldn’t do the things that I used to do. I was just hopeless in bed crying every day.”
Now, he’s planning on launching his own online store with another artist.
He is also making time to appreciate some of the things he never knew were possible.
“The other day I saw my first star in the sky,” Rylee said.
“I was like, ‘How can I see that tiny little sparkly thing in the sky?’
“Before I had the procedure, I just thought the sky was black and there was a Moon and there were no stars or anything. I was like, ‘People are trying to trick me into thinking there are sparkly things in the sky.'”
It’s a similar story for Saman. Now the pair love spending time sprawled out in the backyard, staring up at the night sky.
“It looks beautiful,” Saman said.