Associate Professor Fred Chen with Mohammedali and his mum, Fatema
When Mohammedali was just three months old, his parents noticed he would often stare at the downlights in the ceiling without blinking and that he could not visually track a toy that was brought close to him. After visual function testing, they received the devastating news that their son had Leber congenital amaurosis.
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns and is a common cause of blindness in the young; around 20 per cent of children in schools for the blind have LCA.
Mohammedali was referred to Associate Professor Fred Chen at the Lions Eye Institute when he was one year old. After extended genetic testing of both his parents and grandparents, it was confirmed that Mohammedali has retinal dystrophy caused by a faulty RPE65 gene.
The RPE65 gene provides instructions for making a protein that is essential for normal vision and is produced in the back of the eye in a thin layer of cells called the retinal pigment epithelium (RPE).
His parents were advised that there is currently no treatment, however, there is promising research that may provide options in the future.
Mohammedali feared the dark
After accepting the news the family got on with their lives, but when Mohammedali was about two years old he was bumping into things and he became very scared of the dark. This meant that the family could not go out at night and after dark their young son always wanted to be with his parents. Night-times at home were especially hard as Mohammedali was unable to sleep until 2am most nights. The sleep deprivation put an additional strain on the family.
Gene therapy provides life-changing treatment
Mohammedali is now showing an interest in activities like drawing
In March of 2023, the family received the news that if they could travel to Melbourne for a month, Mohammedali would be able to receive Luxturna gene therapy, under Associate Professor Chen’s care.
Fatema, Mohammedali’s mother, said she was shown a video clip of children who had received Luxturna and promptly burst into tears. “I knew immediately that with this treatment my son would be able to see and this meant he would also be able to see me. Until then, I wasn’t sure if he could see me with his vision, or he just recognised me by smell and touch,” she said.
Associate Professor Chen was pivotal in facilitating approval of Luxturna by the Therapeutic Goods Administration and access to this treatment by Western Australians. He is one of only five surgeons in Australia who can deliver the drug.
A new world to explore
Fatema said after treatment, Mohammedali experienced a dramatic improvement in his sight almost immediately. “He was a different version of himself, his true personality was starting to shine through. He started jumping off sofas and doing things he hadn’t done before like hiding under beds and couches. He found a light switch and started turning it on and off,” she said.
“The magic really started to happen after his second treatment. While I was cooking in the kitchen Mohammedali started collecting lots of tiny pieces of carpet fluff off the floor and asked me to help him clean up. At first, I wasn’t sure what he was doing, but then I realised he could see.”
Thank you
Thanks to generous support of Associate Professor Chen’s research, Mohammedali can now see his Mum and isn’t afraid of the dark anymore. He looks at the night sky and says “Mummy – look it’s the moon!”. The family is planning a trip to Bridgetown soon where he hopes to see the stars for the first time.
Mohammedali is now showing interest in activities like drawing and puzzles – something that was not possible before. Now four years of age, he loves finding small animals in books and playing hide and seek. He also loves exploring the park and is becoming a real adventurer. Childhood activities that most of us take for granted are special moments that Mohammedali and his family will be forever grateful to experience.
When Mohammedali grows up, he would like to be a fireman or a police officer. Something that is now possible to imagine, thanks to sight saving treatment from Associate Professor Chen.
Thanks to our supporters, Mohammedali has a bright future and lives with the reassurance that he will not lose his eyesight.
