18 August 2022

Specialist service improves quality of life for patients with incurable genetic condition


Patients with a rare, progressive and incurable genetic condition that causes muscle weakness and problems with moving, swallowing and breathing are able to access novel treatments that can control the condition and improve their quality of life thanks to a new specialist service.

The Spinal Muscular Atrophy (SMA) service at Sheffield Teaching Hospitals NHS Foundation Trust is the leading one of its kind in the UK for adult SMA patients, who have been among the first in the country to benefit from new drug treatments on the NHS.

The drugs, called Nusinersen and Risdiplam, can stabilise and improve the condition which would otherwise get worse over time. The drugs work by modifying the effects of an abnormal mutation to the SMN1 gene, which is the cause of the most common form of SMA. Previously there was no treatment and the care was focussed on symptom management.

The Sheffield SMA service was the first in the UK to treat adult patients with Risdiplam, which is taken orally every day, and one of the first to start Nusinersen in adult SMA patients, which is administered by lumbar puncture three times a year. The team at Sheffield has also been commissioned to examine the safety and feasibility of delivering Nusinersen to patients who cannot have lumbar punctures due to very complex spines by using a lumbar port and catheter system inserted neurosurgically, thereby making the treatment accessible for patients who may otherwise not be able to access it. The team has also been innovative in using methods such as ultrasound guidance to make lumber punctures safe and more tolerable for patients.

Many patients have reported stabilisation of their condition which was otherwise deteriorating over the years, whilst several have reported significant improvements such as improved walking, better swallowing, more energy and less fatigue which have had a significant positive impact on their quality of life.

The Sheffield SMA team established the service in 2020 despite the significant challenges of the COVID-19 pandemic. A ‘one-stop shop’ service model was established, providing a single multi-disciplinary outpatient clinic where initial assessments and therapy can take place during the same visit, enabling disabled patients to minimise hospital visits.

 

The team consists of neurology and neurosurgical consultants, neuro-radiologists, specialist neuromuscular physiotherapists and neuro-pharmacists, nurses and nurse practitioners.

Neurology Consultant and Service Lead Dr Channa Hewamadduma said: “We are delighted that we have been able to establish the SMA service despite COVID are able to offer access to novel therapies to patients from our region and beyond. It is encouraging that many patients are reporting an improvement in their condition and quality of life as a result of the treatments.”

Currently the service has 49 adult SMA patients on novel treatments, the highest of any UK adult neuromuscular centre at the moment. Sheffield, in collaboration with 15 other adult care centres, forms the Adult SMA REACH (Research And Clinical Hub) network which shares best practice to help patients across the whole of the UK.


 

Case studies

Tess Daly, 33, of Sheffield, was the first adult in England to receive Risdiplam, which she has been taking daily since November 2020.

Tess was diagnosed with SMA when she was 18 months old. The condition means she has never been able to walk or weight-bear. She uses an electric wheelchair and has live-in carers. She has an attachment for her wheelchair which she describes as a ‘bionic arm’ which helps her to feed herself, use a mobile phone, drive her wheelchair and do some of her own make-up, but “everything else needs to be done for me or with huge amounts of assistance.”

Prior to Risdiplam becoming available, Tess’s condition had reached a point where she was struggling to do the things that she enjoyed. This included doing her make-up, which was particularly important for her because she is a social media influencer with 218,000 followers on her Instagram page where she posts about beauty, fashion and make-up.

She said: “By my late 20s it was getting difficult to drive my wheelchair by myself. A carer would have to support to me and make sure my arm didn’t slip. I used to love driving round Meadowhall but I didn’t feel like I could do it anymore because I was worried I didn’t have the strength in my arm to control the chair.

“I am into make-up and fashion but I would get very fatigued doing my make up, and I could not be bothered. I would be tired and aching to the point where I wouldn’t be able to go out afterwards, so I had to get someone in to do it for me.”

But since starting the Risdiplam treatment, she has noticed improvements in her strength and stamina which have enabled her to do start doing more for herself again, including her own make-up.
She said: “The increased stamina means I can do it and still have the energy to do other things afterwards. Even if that was the only thing I got from this then I would feel like I have won the lottery.”

She said she felt fortunate to live so close to a leading SMA service, which meant she had access to the latest treatments. Prior to the establishment of the SMA service, she had been under the care of the neurology team in Sheffield.

“I know that living in Sheffield I am on the doorstep of this leading service and experts and that has helped me to get this treatment, so and I feel privileged to be in that position.

“Being the first adult in England to get the drug was quite scary and I had a lot of questions, but the team are brilliant and very personable and I know I can ask them anything. You can pick up the phone and they will help with anything you need.

“Although it was exciting to receive the treatment I knew I needed to stay level headed about it. I have people follow me on Instagram from all over the world, and a lot of my followers have disabilities as well, so I wanted to document my journey but also be honest and not give people false hope.

“I take it day by day and there have definitely been positive changes.”

Sinead Corkery, 47, of York, was the first adult in the UK to receive nusinersen, beginning treatment in March 2020.

She said the treatment had been ‘life-changing’ and made her more confident and independent.

“It has been incredible. Prior to the treatment I had lived my life with the very real risk of falling, often without warning and this was more likely when I was tired or had been doing a lot. This meant that I had to limit what I did and carefully choose where I put my energies. The risk of falling was always there and the repercussions would be at best embarrassing or frustrating and at worst painful and damaging.

“Within a few months of starting treatment I felt more stable, more in control even when doing mundane tasks like standing brushing my teeth. For the first time in my adult life I can walk for the sheer pleasure of doing so and I don’t need to link arms with my partner for support, making life easier for her as well. I am still careful and mindful but it means that trying to avoid falls is no longer always the main thing on my mind all the time, which is exhausting. I can also get on with my job as a speech and language therapist and do what I need to do without having to think ‘how far is it’ or ‘how long will it take me to get the wards’, so hopefully the treatment is also helping me to better help others.

“It’s a very strange experience to be getting more able as I get older and it’s hard to explain to somebody who is fully able bodied the difference it has made – it’s like if you were suddenly given the ability to fly, just imagine how thrilling and at times overwhelming that would be!”
She said the team at Sheffield had been “fantastic.”

“The fact they set this all up during Covid is incredible and to have the opportunity to have this treatment has been life-changing. Prior to this there was not much that could be done other than exercises to try and maintain strength. I worked hard but it was getting gradually worse, whereas now I can see the improvements which is brilliant.”
 



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