SMA Europe’s recent benchmarking report powerfully highlights the gaps that exist across Europe in the care pathways for adults living with spinal muscular atrophy (SMA). To illustrate some of the report’s findings, Luis Canto E Castro, from SMA UK, shares his personal experiences and views

Written by Geoff Case, RARE Revolution Magazine

Born in South Africa, in 1985, Luis was diagnosed with spinal muscular atrophy (SMA) just before his third birthday. Concerned that he was not hitting his early milestones, his parents had taken him to see 15 different medical professionals, but he had to wait more than two and a half years before he was correctly diagnosed.

In the early years of his condition, Luis was cared for within the government system in South Africa before he became eligible for private medical care. Costly though it was, this brought him a much higher standard of care.

In 1995, at the age of 10, in one of his many challenging experiences with the public healthcare system, Luis was discharged just 10 days after an operation to fuse his spine, instead of at 6 weeks. “They knew it would be safer for me to be at home than in the hospital,” he explains. In the 32 years of healthcare in South Africa that followed his diagnosis, he never saw a specialist in spinal muscular atrophy, in either the public or private healthcare system.

Luis is grateful that now, following his move to the United Kingdom in 2021, he has access to SMA specialists for the first time, but he also thinks that the playing field for adults living with SMA is very uneven.

On Rare Disease Day 2024, SMA Europe launched Care for adults living with SMA in Europe: a benchmarking report, which offers a wealth of insight into the specific challenges faced by adults living with the condition across Europe.

The benchmarking report, produced by SMA Europe in partnership with Roche, builds on the success of SMA Europe’s ongoing OdySMA initiative and exemplifies how it leads the international SMA community in its pursuit of effective treatments and optimal care for everyone living with SMA.

Luis welcomes the report’s focus on three key areas:

• the organisation of healthcare systems
• the delivery of healthcare
• governmental and peer support

Across these three areas, 19 indicators were used to compare care in 23 European countries. Care in the United Kingdom was assessed as “good” in respect of 7 indicators, “reasonable” in 5, “not good” in 7 and “poor” in none.

Table 1: Overview of how the United Kingdom performed across the 19 indicators used in SMA Europe’s benchmarking report on SMA adult care.

“You feel like you’re progressing one step, but then you’re being knocked back another six and having to start again.”

– Luis

SMA Europe’s benchmarking report describes how the experiences of adults living with SMA differ not only between countries but also within them, with many facing “complex and challenging” situations and becoming “lost” within the medical system, with quality of care being impacted because “the different specialists do not communicate with each other” and because there is “no coordination to optimise time spent in the healthcare system”.

As SMA UK’s community services lead, Luis meets regularly with the SMA community to understand the unmet needs in the UK and find ways that SMA UK can help. He says that the challenges for community members can be profound and that “some adults feel like they’re a forgotten generation”. He believes that a “postcode lottery” affects their access to services, resulting in “major inequities” between and within the four nations of the UK. In some cases, he has heard of people travelling from one home nation to another to access better care.

Adults living with SMA have told Luis of their hardships during the transition from paediatric service to adult health services, when certain services may become unavailable or, at least, less available. “When you’re a paediatric patient in the UK, you have access to many hospital services, such as physiotherapy and occupational therapy,” he explains, “but when you get handed into adult services, you’re relying on community physiotherapists and occupational therapists.”

A persistent theme in these conversations has been the lack of coordination between services, leading to discontinuity in people’s care. Luis would dearly like to see a “standardised, human-centric” approach to the services that clinics offer and the removal of barriers to access.

Illustrating the point, Luis describes his recent difficulty in accessing local multidisciplinary care: his local speech and language therapist referred him to a local dietitian to explore whether his swallowing issues, arising from muscle weakness, were connected with specific foods. When the referral was rejected—his problem was deemed insufficiently severe—he had to wait until he had seen his specialist in London, who then referred him to a hospital dietitian there. Consequently, Luis’s access to a dietitian is now wholly dependent upon the availability of transport. “It means I need a carer who can drive—which is just once during the working week, or my partner has to take leave to take me, or I have to use the train or hospital transport.”

Luis also wonders whether communication between community and hospital professionals could be more consistent. He only recently discovered that one clinic offers charity-funded support that he is eligible for, including physiotherapy and individualised exercise plans, and he is surprised that this service was not better publicised. Some people with SMA have been referred to it and others have not.

He believes that adults living with SMA often become caught in the middle between healthcare professionals, forcing them to advocate for the care they need. He says: “Unless you’re able to articulate what one healthcare professional said to you to the other, there is no continuity in your care because they don’t know what your other doctors said.” The solution, he believes, is better sharing of information between NHS trusts—“one medical system to rule them all”, as he puts it.

“We’re in a very disjointed medical system—the one arm doesn’t know what the other arm is doing because there is no brain to coordinate it! We have all these different services, but they don’t talk to each other.”

– Luis

In Luis’s opinion, “one of the biggest barriers” between adults living with SMA and access to care is hospital transport. For him, using hospital transport to travel to an appointment in London typically involves waking up at five o’clock in the morning to get ready, waiting for the bus to arrive (it is often late), travelling for two hours, waiting for the appointment, waiting for transport and then travelling home for two hours, arriving at eight o’clock at night. “For someone like me, who works four jobs, it’s not ideal to be losing a whole day for a half-hour or hour appointment in London,” he says.

“Trying to navigate life as an adult with SMA is really challenging.”

– Luis

The benchmarking report highlights the importance of each country having strong support systems in place that are “holistic and patient-centred”, but Luis believes that there are some clear gaps in governmental support in the UK.

He doubts that the “powers that be” realise the cascading problems faced by people living with chronic disease or disability. “You’re encouraged to work, yet you’re penalised for working,” he says, referring to the current gaps in the financial support from the government.

For example, in 2021, Luis applied for a Disability Facilities Grant (a grant that councils in England, Wales and Northern Ireland can give to people who need to adapt their homes), so he could access his home safely in his powerchair, and shower without his carer having to bodily lift him—which put them both at risk. His local council estimated that the project would cost £50,000.

“As I got over the threshold of the door, my whole chair was pivoting forward, but if my arm position changes ever so slightly, that’s me driving off the edge of the ramp and falling flat on my face.”

– Luis

Unfortunately, the council rejected Luis’s application for a grant to pay for the adaptations. It told him that his income, combined with his partner’s, would be sufficient for them to fund the project themselves. However, their combined annual income at that time was just £31,000.

Luis was forced to devise an alternative plan that cost him £20,000—he had to fund that himself with a five-year loan. “I couldn’t risk it any longer,” he explains.

He also cites the challenges with the Access to Work Scheme, a publicly funded employment support programme in the UK that provides practical and financial support so that more people with a disability or physical or mental health condition can start or stay in work. Examples include specialist equipment or assistive software, support workers, travelling costs, vehicle adaptations and physical changes to the workplace. At the end of January 2023, 24,063 people were waiting for a decision on their Access to Work claim, and the average waiting time for a decision was 60.7 days.¹ In Luis’s case, it took nine months for his employer to receive funding for the specialist equipment he needed.

“Recently a minister said it’s our ‘duty’ to go to work, but politicians, and people in general, don’t realise there can be a long waiting period for Access to Work payments… An individual has to cope in an environment where they’re expected to excel, without having the equipment or facilities they need.”

– Luis

“The difficulty is in not just maintaining a career with a disability but about navigating the social care system too.”

– Luis

SMA Europe’s benchmarking report recognises “the significance of life assistants… in enhancing the independence of adults living with SMA” and how gaps in that support can have “far-reaching effects on the physical and mental health of everyone involved”. In Luis’s opinion, there are, unfortunately, many such gaps in the UK.

“People have a care plan, but they don’t have the carers to fulfil it,” Luis says. “I know people who have been looking for staff for eight months and have not been able to place someone. And nothing’s been done—the problem has not been considered from the person’s perspective.” He points out how there are, again, geographical disparities in care provision, with a higher (and growing) percentage of people providing unpaid care in the most deprived areas.²

He is also concerned about “major inequities” between people whose social care is arranged by an agency and those who employ their carers directly.

In Luis’s own experience, relying on agency care from an agency created barriers that impeded his sense of independence in the workplace. Every time he visited a client in person to close (often sizeable) contracts, the care agency needed to phone ahead to conduct a risk assessment for the carer accompanying him. Given the sensitivity of the situation, Luis found that intrusive.

In what would have been a further blow to his independence, the care agency told Luis his carers could not help him out of his house because of health and safety concerns. “I had to throw the Equality Act and Human Rights Act at them before they started listening to me,” he says.

Finally, when his carers were forbidden by the agency from touching Luis’s care equipment because they did not have the appropriate training, Luis transitioned to paying his carers directly with funds allocated to him by the council. “Now I employ my own carers who implement my care plan. That gives me control over the rate of pay, their hours and the standard of care I get.”

Luis hopes and believes that SMA Europe’s ground-breaking benchmarking report will help to change the status quo for adults living with SMA in the UK. He is grateful that it is drawing much-needed attention to the community’s unacknowledged daily struggles in navigating the healthcare system, the world of work and the social care system.

Change could start, he believes, with some creative, patient-centric thinking to “tweak a policy here” or “tweak a process there” to streamline services and make the lives of adults living with SMA easier. “We are currently in an environment where decisions are being made for us, not with us, so they don’t truly reflect what’s happening,” he says.

SMA Europe’s benchmarking report: the eight calls for action:

International recommendations

• Developing updated European or international adult care and treatment guidelines
• Reaching alignment on data collection from disease/patient registries

National recommendations

• Creating and/or strengthening a collaborative national network of SMA/NMD [neuromuscular diseases] adult treatment centres
• Prioritising funding to enable accessibility to existing treatment centres
• Revisiting [the] support framework for persons with disabilities to ensure it is holistic and person-centric
• Enabling access to appropriately funded and resourced multidisciplinary care for all adults living with SMA
• Addressing inequalities in access to pharmacological treatment
• Addressing insufficiencies in formal and informal assistance

“I’m really happy with the benchmarking report, I think it’s really going to set the tone in the UK and Europe, so people understand what’s being done right and where they still need to work really hard on making it equitable for everyone.”

– Luis

Footnotes

SMA Europe’s benchmarking report is not intended to serve as a comprehensive or scientifically exhaustive assessment of the care provision for adults living with spinal muscular atrophy (SMA) throughout Europe. For more information about the full methodology and its limitations, please refer to the annexes of the report. SMA Europe recognises that this benchmarking report captures only a snapshot of the landscape across 23 countries. The findings are based on a rapid literature review, an online structured survey completed by healthcare professionals, and individual interviews with one to two patient representatives from SMA Europe member organisations. 

Should you have any enquiries, requests for further information or wish to express any concerns or comments, SMA Europe encourages you to reach out to secretariat@smaeurope.eu. Your input is invaluable to our ongoing efforts to enhance our understanding and advocacy in the field.

References

[1] Department for Work and Pensions, DWP Central Freedom of Information Team to RARE Revolution, 27 February. [Letter] FOI2024/08276

[2] Carers UK [Internet]. [cited 5 Mar 2024]. Higher proportion of unpaid carers in the most deprived areas of England and Wales. Available from: https://www.carersuk.org/press-releases/higher-proportion-of-unpaid-carers-in-the-most-deprived-areas-of-england-and-wales/

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This digital spotlight has been made possible with financial support from F. Hoffmann-La Roche Ltd. The content was developed in collaboration with SMA Europe and F. Hoffmann-La Roche Ltd. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.

Date of preparation: April 2024 – M-GB-00016464

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