Groundbreaking Gene Therapy Enables Boy to Walk

A five-year-old boy, who was treated with the world’s priciest drug as an infant, has demonstrated remarkable advancements, now able to walk unassisted, according to his mother.

Edward, hailing from Colchester, suffers from spinal muscular atrophy (SMA), a condition that inhibits the production of a crucial protein necessary for muscle growth.

In 2021, he became one of the earliest recipients of the gene therapy Zolgensma in England, which carries a staggering price tag of £1.79 million for a single treatment, provided through the NHS.

Megan, his mother, expressed her immense pride in Edward, stating he has reached developmental milestones that she previously thought were unattainable.

Each year, approximately 65 infants in England are diagnosed with SMA, a disorder that leads to muscle weakness, impacting both movement and respiration, often resulting in a life expectancy of less than two years without medical intervention.

Megan shared that Edward transformed from a sluggish infant into a lively and playful child, full of spirit and personality.

While he may rely on a wheelchair for the foreseeable future, she remarked, “What truly matters is his happiness. We are incredibly proud of him.”

After undergoing a double hip replacement surgery in October, Edward is gradually regaining his strength, and overall, his progress has been impressive.

“He is learning to swim and can float independently, which is quite challenging for children with SMA since they lack natural buoyancy,” she noted.

This summer, he took a leap from a boat into the ocean and even enjoyed a ride on a jet ski. “He’s such a delightful and lovable little boy,” she added.

Edward has recently begun his schooling, where he has formed numerous friendships and engages in activities typical of a five-year-old.

Megan reflected, “We never thought this level of achievement was within reach. We were uncertain about the quality of life he might experience.”

During hospital visits, various medical professionals were so impressed with his development that they would come to see him, even when not on duty.

“They are eager to witness firsthand the impact of gene therapy on his life,” she explained.

To facilitate Edward’s physiotherapy sessions, which can occur up to five times a week, the family relocated to London.

Megan made the decision to leave her job in event management to dedicate herself fully to Edward’s care.

Initially uncertain if the NHS would fund the treatment, she launched a fundraising initiative, which has since provided financial support for specialized physiotherapy and equipment—critical elements credited for his ongoing progress.