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Conaire Quinn, a man from Ballynahinch, is hopeful that a new drug for a rare form of Motor Neurone Disease (MND) will allow him to spend more quality time with his family. At 38 years old and with a nine-year-old daughter named Autumn, Quinn expressed a sense of urgency due to the limited time he feels he has. Tofersen, the groundbreaking drug that Quinn received through a lumbar puncture procedure at Altnagelvin Hospital in mid-August, has the potential to significantly impact the progression of the disease and improve his quality of life.
Quinn’s initial suspicions of having MND arose during the Covid pandemic when he noticed difficulties with his gait and mobility. The confirmation of his condition came after experiencing various symptoms like stumbling while walking and struggling to navigate stairs. His decision to seek medical attention was solidified when he required assistance to stand during a Manchester United match. With a family history of MND on his mother’s side, Quinn was prepared for the diagnosis and eager to access the new treatment to combat the disease.
The drug, Tofersen, targets a specific form of MND caused by the SOD1 gene mutation, with the potential to slow down the disease’s progression significantly. Dr. Gavin McCloskey from Altnagelvin Hospital emphasized the transformative impact of this new treatment, marking the first significant advancement in MND therapy in three decades. McCloskey highlighted Tofersen’s mechanism in targeting the abnormal gene responsible for MND, creating optimism for improved outcomes and a potential reduction of symptoms in affected individuals.
Despite facing challenges in accessing the treatment due to limited availability and administration services, Quinn remains optimistic about the positive effects that Tofersen can have on his life and his family’s future. As he navigates life with mobility aids and a newfound sense of urgency, Quinn views the drug as a breakthrough that not only benefits him but also paves the way for improved care and outcomes for others with MND. The importance of timely access to this treatment resonates deeply with Quinn, emphasizing the irreplaceable nature of time and the urgency of addressing health needs promptly
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