Stuart Haxell, a Sligo town native, becomes the first Irish patient to receive groundbreaking gene therapy for Leber congenital amaurosis in Dublin. The treatment has significantly improved his vision, allowing him to see letters and objects after years of functional blindness.
Stuart Haxell, a native of Sligo town, has experienced a significant improvement in his quality of life after undergoing pioneering ocular gene therapy at the Mater Hospital in Dublin. Haxell, who had been functionally blind for the past 12 years, was able to read a letter on a page after the treatment. He expressed his astonishment, stating that he never believed there was a potential solution for his condition. 'I was shaking.
I never considered there was anything that could help with my condition. I never thought this could happen. All I could see before that was bright lights,' he shared.Haxell's case marks a significant milestone as the first Irish patient to receive this groundbreaking treatment within Ireland. The gene therapy, approved for use by the Health Service Executive (HSE) last year, holds the promise of restoring retinal function and vision in individuals suffering from inherited retinal dystrophies. Haxell embarked on a lengthy journey to secure a diagnosis, which was finally achieved through genetic testing in 2023, supported by a charitable initiative. He was diagnosed with Leber congenital amaurosis, a rare condition affecting fewer than 10 people in Ireland. 'I had no idea what my eye condition was, I just wanted a diagnosis. This came completely out of the blue,' he recalled. After undergoing further tests, Haxell underwent two surgeries, a week apart, on each eye in November of last year. Professor David Keegan, a consultant retina specialist at the Mater Hospital, and his team successfully injected the gene therapy into Haxell's eyes. Prof. Keegan highlighted the rigorous selection process to ensure Haxell's eligibility. 'It's akin to plugging a television back in,' he explained. 'The procedure is most effective when administered in childhood before significant retinal degeneration occurs, but as Stuart's case demonstrates, benefits are not only possible but significant in adults.' Hundreds of patients worldwide have already benefited from this treatment, making Haxell's case the first instance of an Irish patient receiving treatment within Ireland. 'We had three children who received this treatment abroad while awaiting HSE approval. I think it’s really important that we have demonstrated the ability and capacity to treat patients with these conditions here,' Prof. Keegan stated. 'That means that when drugs come down the line for other more common conditions, we don’t need to send them abroad.' Prof. Keegan noted that Haxell was 'right at the edge of eligibility' but emphasized that the 'heart of the programme' is the comprehensive testing system, which enables clinicians and patients to plan and manage conditions, ultimately 'improving their quality of life'.Following the treatment, Haxell can now read large letters, distinguish objects, and there's hope that he'll regain the ability to read full sentences. 'It’s like when I walk into a room, I might not know it’s a table in front of me, but I can see there’s a big object, that there’s something there,' he explained. This newfound vision has empowered him in ways he never thought possible. 'I feel much more comfortable when I come into a room. I feel more confident that there’s less of a chance I could fall or bang into something,' he shared. 'For the first time in over a decade, I can see the world around me. Being able to read again is something I never thought possible and my quality of life has been improved,' Haxell concluded
Gene Therapy Ocular Therapy Leber Congenital Amaurosis Inherited Retinal Dystrophy Vision Restoration Ireland
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