Roy Suryo
A five-year-old boy from Colchester, who received the world’s most expensive gene therapy drug as a baby, has achieved "incredible progress," now walking independently and enjoying milestones previously unimaginable. Edward, who suffers from spinal muscular atrophy (SMA), a condition that severely impacts muscle development due to a lack of a crucial protein, was among the first children in England to be administered the life-changing gene therapy Zolgensma on the NHS in 2021. The one-off treatment comes with a staggering price tag of £1.79 million. His mother, Megan, described Edward as her "pride and joy," marveling at his achievements that she once feared would never come to pass.
SMA affects approximately 65 babies born in England each year. This progressive neuromuscular disorder leads to profound muscle weakness, significantly impairing movement and breathing. Without timely intervention, the prognosis for infants diagnosed with SMA is often grim, with many not surviving past their second birthday. Edward, however, has defied these odds. His mother recounted a dramatic transformation, from a lethargic infant to a spirited, playful child who is "full of life" and possesses a distinct "character." While he may require a wheelchair for ongoing mobility support, Megan emphasized that his happiness is paramount. "It does not matter, as long as he is happy. We are so proud of him," she stated.
Edward’s journey has been marked by significant physical advancements. He recently underwent a double hip replacement in October and is now regaining his mobility. His mother highlighted his newfound ability to swim and float independently, a remarkable feat for children with SMA who often struggle with buoyancy. This summer, Edward experienced the thrill of jumping off a boat into the sea and riding a jet ski, embodying a spirit of adventure. "He’s a very sweet, loveable little guy," Megan added. He has also recently started school, where he has formed many friendships and is engaged in activities typical of a five-year-old. The quality of life he now experiences was something his parents had once feared would be unattainable. So remarkable has been Edward’s progress that doctors and medical professionals who have encountered him, even when not directly involved in his care, have been astonished. They have sought opportunities to witness firsthand the transformative impact of gene therapy.
To facilitate Edward’s intensive physiotherapy, which he receives up to five times a week, the family relocated to London. Megan, who previously worked in event management, has dedicated herself to full-time care for her son. Prior to Edward receiving the Zolgensma treatment on the NHS, Megan initiated a fundraising campaign. The funds raised, approximately £170,000 over five years, were instrumental in covering the costs of specialist physiotherapy and essential equipment, which she credits as being crucial to his development. "We raised £170,000 over five years but that money has nearly gone. It’s been put to a lot of good use," she explained. The financial support provided by this campaign eased the burden on the family, allowing them to focus on Edward’s care. "It has saved us as a family, not having to worry about the money. We’re fundraising again now because all of the progress he has made has been due to private care," she revealed.
Zolgensma, with a list price of £1.79 million, is widely recognized as the world’s most expensive drug. However, NHS England confirmed that a confidential discount had been negotiated, reducing the overall cost. Prior to receiving Zolgensma, Edward was being treated with Spinraza, a drug that requires lifelong regular spinal injections. Zolgensma, in contrast, is a single, one-off injection. While Zolgensma is a relatively new treatment, and long-term outcomes are still being studied, Megan expressed optimism that this generation of babies born with SMA will be among the first to reach adulthood.
Professor James Palmer, medical director for specialised commissioning at NHS England, expressed his profound pleasure at witnessing Edward’s remarkable recovery. "It is a huge pleasure to see the remarkable benefits that this innovative gene therapy has provided for Edward since he was treated four years ago," he stated. He further noted that Edward is one of over 150 children with SMA who have benefited from this groundbreaking one-shot treatment, which has had a "huge impact on their lives." Professor Palmer conveyed optimism that advancements in medical science will lead to more treatable conditions like SMA in the coming years. The success of Zolgensma in cases like Edward’s underscores the potential of cutting-edge therapies to fundamentally alter the lives of individuals with previously untreatable or severely debilitating genetic conditions, offering hope for a brighter future.
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