Sheffield NHS: First patient to get new atrophy treatment “can walk for the pleasure of walking” again

The first adult in the UK who received a new treatment to slow the development of a rare disease has said being able to walk more easily again is like being “given the ability to fly”.

Sinead Corkery, aged 49, lives with spinal muscular atrophy, a rare and incurable genetic disease which leads to muscle wasting and weakness.

It can create problems with swallowing, breathing, and moving the arms and legs, but nusinersen - the first ever approved treatment for the condition - has changed her life, since she started it in Sheffield.

Sinead, a speech and language therapist, said: “For most of my adult life, activities which others may take for granted, such as going out alone for a spontaneous stroll, were most often unachievable for me.”

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Sinead started to experience the onset of her condition from two years old. Prior to using nurinersen, which she began in 2020, she would fall frequently and without warning.

Within months of starting the medicine, which is given via injection into the spinal fluid every four months, her falls had significantly reduced, walking became easier, and she felt less fatigued.

She added: “[The falls were] at best embarrassing and painful, and at worst dangerous and damaging. Now, for the first time in my adult life, I can walk for the sheer pleasure of doing so. 

“It’s hard to explain to somebody who is fully able-bodied the difference it has made to me - it’s like if you were suddenly given the ability to fly. Just imagine how thrilling, and at times overwhelming, that would be!”

Sheffield Teaching Hospitals NHS Foundation Trust’s neuromuscular centre has been officially named a Centre for Clinical Excellence by Muscular Dystrophy UK this month (March 2024).

In total, 24 neuromuscular centres across the UK were awarded with the title.

A specialist team of consultants, nurses, physiotherapists, care advisors, speech and language therapists run the Sheffield Neuromuscular Centre, alongside related specialist services such as metabolic bone medicine and interventional neuroradiology.

The centre offers services to support all patients with muscle-wasting and muscle weakening conditions to improve their health and maintain a better quality of life.

Sinead added: “Without the team I wouldn’t have had access to nusinersen, and without nusinersen my life would be very different. 

“‘Going above and beyond’ is a massively overused phrase, but in this instance, it is a fully accurate description. The neuromuscular team has been inspiring in their commitment, humanity and sheer hard work.

“The Sheffield neuromuscular centre is a shining example of creating something that is greater than the sum of its parts – taking a team of skilled and caring professionals and building something special, something life changing.”

Dr Channa Hewamadduma, lead neuromuscular consultant neurologist at the Trust, said: “Sinead’s story is a powerful reminder of what it means to be able to offer treatment for neuromuscular conditions which were previously considered incurable, such as SMA. 

“There are several treatments now being developed for some key muscular wasting conditions, and as a specialist centre, we need to constantly prepare ourselves to help our patients. 

“The presentation of the award by Muscular Dystrophy UK recognises the high-quality specialist support our care team provides to people living with these challenging lifelong conditions.”

In people with spinal muscular atrophy, a protein called SMN is at a very low level.

Nusinersen works by fixing the error on the survival motor neurone gene, subsequently allowing the body to "read" the gene, and produce more of the essential protein.