Spinal Muscular Atrophy, a Rare Disease
Treated Thanks to Free Public Healthcare
A five-year-old boy from the UK who received the world’s most expensive gene therapy has miraculously regained the ability to walk after four years. The boy suffers from spinal muscular atrophy (SMA), a rare genetic disorder.
On December 31 (local time), the BBC reported that Edward Willis-Hall, a boy living in Colchester, UK, has recovered to the point where he can walk and even swim on his own after receiving the high-priced treatment injection.
Edward Willis-Hall, a 5-year-old boy from the UK suffering from spinal muscular atrophy (SMA), was able to walk after receiving the Zolgensma injection, which costs 3.4 billion won per dose. BBC
Edward was diagnosed with spinal muscular atrophy when he was about two months old. Spinal muscular atrophy is a hereditary disease in which the anterior horn cells of the spinal cord are damaged, preventing motor signals from reaching the muscles, which gradually leads to muscle weakness. This condition primarily occurs in infants and young children, and it is especially fatal for those born with type 1 SMA, as their average life expectancy is only about two years. As time passes, the muscles deteriorate severely, eventually making even breathing difficult. According to the UK National Health Service (NHS), about 60 to 80 babies are born with spinal muscular atrophy each year in the UK.
When Edward was around five months old, he received Zolgensma, a treatment for spinal muscular atrophy developed by Swiss pharmaceutical company Novartis, with support from the NHS. Spinal muscular atrophy usually occurs because the SMN1 gene does not function properly, and this drug introduces a replacement SMN1 gene into the body to continuously produce the necessary protein. It is so effective that a single intravenous injection can be sufficient for treatment, but the problem is that each dose costs as much as 1.79 million pounds (about 3.4 billion won). In 2021, the UK NHS approved free public healthcare coverage for this drug.
Thanks to NHS support, Edward was able to receive Zolgensma free of charge. After the injection, his condition improved remarkably. In October last year, he successfully underwent surgery on both hips, which had become misaligned due to muscle weakness, and recently, he has been able to walk 20 to 30 steps on his own. He also started swimming and is now able to float in water by himself. For infants and young children with spinal muscular atrophy, their muscles are usually too weak to provide natural buoyancy in water. The fact that he can float on his own is evidence of significant muscle recovery.
Edward’s mother said, “He was barely able to move as a baby, but now he is a playful and energetic five-year-old boy. He is reaching milestones we never could have imagined.” The BBC reported that “Edward started primary school this year and is doing everything a typical five-year-old boy does, including making many friends.”
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