Rare condition drug 'fundamentally changed' boy's life

Treatment for a rare muscle-wasting condition for a nine-year-old has "fundamentally changed the course of his life", his mother has said.

Ezra, from Ramsgate in Kent, started treatment for spinal muscular atrophy (SMA) with injections of nusinersen at the age of five months through an NHS early access programme.

The National Institute for Health and Care Excellence (Nice) has now approved the treatment, and oral treatment risdiplam, for routine and widespread NHS use in England.

"Starting mainstream school is a milestone we were once told Ezra would never reach," his mother Portia said.

The family was told in 2016 that the diagnosis "came with a life expectancy of under two-years-old" and their "hope for a future this bright felt out of reach".

NHS England said the drugs had helped 73 babies with SMA to survive beyond the age of five.

In final draft guidance, Nice said the drugs could improve survival, slow disease progression and help people maintain independence.

SMA is a genetic condition which can cause muscle weakness and affect breathing, swallowing and movement, according to the NHS.

Around 70 babies are born with SMA each year in the UK and there are around 1,150 people living with the condition in England.

Helen Knight, director of medicines evaluation at Nice, said the institute's committee found that "nusinersen and risdiplam can offer substantial, life-changing benefits for many people with SMA".

Prof James Palmer from NHS England, said the "treatments have offered a phenomenal step forward" and it was "fantastic" that they would be available long-term.

Chief executive of the SMA UK charity Giles Lomax described the development as "a historic moment for the SMA community".

Former Little Mix star Jesy Nelson has campaigned for SMA to be added to post-birth baby checks for serious health conditions.

The singer announced in January that her daughters have the condition in an attempt to raise awareness of SMA.

Additional reporting by PA Media.

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