How Covid-19 rocked rare disease communities

People living with rare and complicated health conditions have experienced more challenges than most during the pandemic. However, emerging remote health services offer new opportunities 


The prime minister’s message to the UK on 23 March 2020 was clear: stay home, protect the NHS, save lives. Most of us will never forget the moment the country locked down to fight the spread of Covid-19. But although the rules were the same for everyone, lockdown affected some people more negatively than others. 

Amanda Mortensen from Brighton was terrified her teenage daughter Livvy would catch Covid-19. Livvy has Phelan-McDermid syndrome, a rare illness that causes multiple daily seizures. At the start of the crisis, the nearby care centre that Livvy attended five days a week had to close. For several months, Mortensen and her husband provided all of Livvy’s care, while both working full time. 

“It was quite intense,” she says. “We weren’t leaving the house, we weren’t going to the shops. We isolated ourselves completely.”

Rare diseases – conditions that affect fewer than one in 2,000 people – are more common than most people realise. Collectively, approximately 3.5 million people in the UK live with a rare condition, from well-known illnesses like cystic fibrosis and Huntington’s to ultra-rare disorders such as glycogen storage diseases. As each condition is individually rare, this large population is often overlooked, even in better times.

Rare disease patients and their families consistently report significant care inadequacies, unmet clinical needs, and feeling ‘left in the dark’ about their condition. These challenges intensified at the height of the pandemic as it became more difficult to access the usual health and care support.

“We were all in the same metaphorical storm, but we were not all in the same boat,” says Dr Gemma Chandratillake, chair-elect of The British Society for Genetic Medicine and education and training lead for the East Midlands and East of England NHS Genomic Laboratory Hub.

In some ways, the wider population got a taste of what it feels like to experience a rare condition at the start of the pandemic. Suddenly everyone had to isolate themselves, conduct a risk assessment before even the most banal activity, and deal with the uncertainty of potentially catching a little-understood illness for which there was then no treatment or vaccine. 

But while most people have been able to enjoy a return to normality as lockdown rules eased, some rare disease patients are living with the long-term effects of the disruption caused by Covid-19. These range from diagnostic delays to reduced clinical services, says Mortensen, who’s also chief executive of the Batten Disease Family Association (BDFA), a charity offering guidance to families affected by Batten disease, a group of rare neurodegenerative diseases.

Pandemic delays to rare diseases treatment

Obtaining a fast and accurate diagnosis can be challenging for somebody with a rare disease, even when the NHS isn’t in danger of being overwhelmed. In the UK, patients can expect to wait several years for the right verdict and often receive several misdiagnoses along their journey. It is such a mission that many rare disease patients call the arduous process a ‘diagnostic odyssey’. 

Livvy is now 20. She only received her diagnosis of Phelan-McDermid syndrome at the end of last year after participating in the 100,000 Genome Project, an initiative launched in 2012 to sequence 100,000 whole genomes from NHS patients with rare diseases or cancer. Such delayed diagnosis is frustrating, but it can also have serious consequences. Delayed diagnosis is linked to fewer treatment options, worsening illness and reduced life expectancy. 

Earlier in the pandemic, diagnostic rates for rare diseases slowed because of reduced access to health services, suggests the Making the Unseen Seen report from advocacy organisation Action for Rare Disease Empowerment (ARDEnt). For families dealing with a mystery condition, the first port of call is usually their GP. But primary care appointments fell from 6,026,140 in the first week of March 2020 to 4,225,502 in the last week of the same month, according to NHS data. 

As we’ve learned with Covid, if there’s a will there’s a way. We’ll see in the next few years if there’s a will when it comes to rare diseases

The appointments that did take place were largely conducted by telephone and video consultation, which aren’t always suitable for spotting indicators of certain rare conditions, such as dermatological diseases. Referrals to specialists – who perform the tests to confirm a diagnosis of a rare condition – were also negatively impacted by the pandemic. In some areas of the UK, GP referrals to specialist services fell by more than half during April to June 2020, the ARDEnt report suggests. 

Even rare disease patients who had received an accurate diagnosis for their condition by March 2020 still faced significant challenges during Covid-19. Many of the specialist NHS medics who usually looked after rare disease patients were redeployed to Covid wards. A survey by Rare Disease Europe (EURORDIS) found 83% of patients experienced delays and cancellations to healthcare appointments during the first wave of the crisis. The findings also suggest that pandemic-induced pauses in treatment might have led to severe deterioration for some patients. Three in ten individuals who experienced disruption to their care reported that it was ‘definitely’ or ‘probably’ life-threatening.

Services that many patients see as vital to manage their conditions, such as speech therapy and physiotherapy, were considered ‘non-essential’ during the lockdown and were forced to shut their doors. Restricted access to support has often led to family members taking a much greater role in their loved one’s care, says Professor Amy-Jayne McKnight, a molecular epidemiologist at Queen’s University Belfast. “Parents were left on their own with no access to support.”

Feeling shut out of health and care systems and faced with confusing guidance about protecting vulnerable people during the crisis, patients and their families often turned to small charities for advice. These often serve the needs of specific rare disease communities. However, they also faced considerable pressure stemming from the pandemic.

Many non-profit organisations are staffed by volunteers (often themselves affected by a rare disease) who had to juggle work, homeschooling and greater care responsibilities, leaving them with fewer resources to respond to patient concerns. As few fundraising events could take place during the first lockdown, 38% of medical research charities reported a loss in income during March-May 2020.

Rare disease patient fears

The mental health impact of Covid-19 on rare disease communities has also been considerable, says Dr Rick Thompson, CEO of rare disease charity Findacure. Some vulnerable patients were so worried about catching a deadly virus that they didn’t seek medical help when it was needed. Others avoided trips to the supermarket or even going outside. 

“Many patients were far more scared about catching Covid than other people given the potential additional complications and that’s led to increased isolation in an already isolated population,” says Thompson.

Cancelled clinical research dashed the hopes of some rare disease patients. Worldwide, over 2,500 trials were terminated or suspended between the end of 2019 and May 2020. Studies that had been years in the making were abruptly halted as research funding was repurposed to fight the Covid crisis and many trial clinicians called to the frontline. 

Many rare disease patients were far more scared about catching Covid than other people

Clinical trials are sometimes the only hope of developing a treatment for patients with ultra-rare diseases, so it’s heartbreaking when they’re shut down, says Chandratillake. 

“For particular rare diseases, there might be a clinical trial that’s taken years to get together. And then overnight, it’s just gone.” In 2020, investigators terminated the only clinical trial of a treatment for Alström syndrome (AS) due to the constraints of the pandemic. The ultra-rare disease causes heart problems and progressive loss of vision and hearing. There is currently no approved treatment. 

Learning the lessons from Covid

No one would choose to repeat the last 20 months. For many rare disease families, Covid-19 caused additional heartache, anxiety and strain. However, advocates think lessons can be learned from this tragic period. Out of necessity, for example, the NHS embraced remote patient monitoring and wearable devices. Patients no longer had to travel miles to visit specialists – instead, they could have a virtual consultation via video link. 

“Having to drive for three hours to sit in hospital for a 10 to 15-minute appointment and then drive three hours home again is not the best use of anyone’s time,” says McKnight. Now that remote monitoring is more common, it’s key to ensure test results can be embedded in electronic healthcare records so experts can quickly access an up-to-date account of a patient’s condition. 

More focus on remote care could also present opportunities for clinical research into rare diseases. Even before Covid, conducting clinical trials for rare conditions was challenging due to the small numbers of people in each country living with a particular illness. Rare disease patients often had to travel long distances to participate in medical research. 

However, ‘decentralised clinical trials’ – which rely on virtual collaboration between researchers, medical teams and patients – are becoming more common. Collecting patient data using digital technology, such as wearable devices, rather than in-person tests might attract and retain a wider pool of trial subjects. It could mean treatments are approved faster. 

The pandemic has accelerated the adoption of such phenomena, with many arguing that decentralised trials will only grow in popularity as they help to improve representation and access across geographical locations, says Dr Tim Guilliams, CEO of Healx, an AI drug discovery platform for rare diseases. “By allowing people to complete the trial from the comfort of their own home, patients can also feel more at ease throughout the process, reducing drop-out rates significantly.”

Dr Jenny Rivers, deputy director of research and innovation at Great Ormond Street Hospital, believes Covid-19 has made more people aware of clinical research and how they can get involved, which will also potentially improve recruitment rates for rare disease treatment trials. 

“More people understand what medical research is and the power of clinical trials,” she says. She’d like to see research automatically embedded into all aspects of clinical care and believes remote monitoring tools could one day make this possible. “Remote consultations mean that we’ll be able to potentially offer more treatments and access to clinical trials in areas that we haven’t been able to before.”

Government strategy on rare diseases

Some experts are optimistic that Covid-19 has made leaders more aware of the challenges of living with a rare illness in the UK. In January 2021, the Department of Health and Social Care released its vision for improving the lives of people with rare conditions, aiming to speed up diagnosis, increase awareness and improve treatment and care. 

The UK Rare Disease Framework suggests four main pillars for improvement: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist treatment and drugs. 

Dr Lucy McKay, CEO of Medics4RareDiseases, thinks the framework is a positive step towards addressing the needs of patients who have been disproportionately impacted by the pandemic. She suggests that the second priority is particularly important. “Making sure that every healthcare professional understands the role they have to play in rare disease diagnosis and management has to underpin the framework for it to actually make real change,” she argues.

Thompson thinks the report is encouraging, but it’s what happens next that will have the most impact. “There’s definitely been a real, serious push to engage with the rare disease community but until we see what the implementation plan is going to be, it’s hard to judge,” he says. 

He hopes for a big push around care coordination, the framework’s third priority. The success of the 100,000 Genomes Project has led to the NHS Genomic Medicine service, which aims to sequence 5 million genomes in England between 2018 and 2023 and means more rare disease patients like Livvy are finally receiving answers. 

But infrastructure and investment must be in place to support newly diagnosed patients, says Thompson. “We’re sleepwalking into a trap there if we’re not careful,” he says. All four UK nations will now develop action plans to address the framework’s four priorities.

Despite the colossal challenges rare disease communities faced in 2020 and 2021, opportunities have emerged for better access to specialist medical services and more convenient participation in clinical research, which could make a real difference to patients’ lives. 

“As we’ve learned with Covid, if there’s a will there’s a way,” says McKay. “We’ll see in the next few years if there’s a will when it comes to rare diseases.”