What actions can the pharma industry take that will have a direct impact on the rare disease community?

Rare diseases affect about 300 million people globally, but with small populations spread out across many geographies, living with a rare disease can be very isolating. Unlike more common ailments, information on the condition is often either not comprehensive or not available at all.

That means healthcare professionals may not have access to relevant information, making diagnosis and ongoing support difficult. Patients often wait years for a diagnosis, moving from doctor to doctor to get answers. In some cases, getting an accurate rare disease diagnosis can take as long as three decades.

Impact of the COVID-19 pandemic

The COVID-19 pandemic brought about many changes in lifestyle that were alien to most of us. But, unfortunately, many of the restrictions were not new to rare disease patients who are well-versed in dealing with uncertainty. Many times, they, along with their caregivers, have to make tough decisions about their health, often with limited guidance from health specialists.

Research conducted in Europe by Eurodis during the first wave of COVID-19 found there had been severe disruption to care for people living with a rare disease, with 83% of respondents reporting issues including having medical appointments cancelled or postponed, being unable to receive therapies such as infusions and chemotherapies and cancellation of rehabilitation therapies. Clearly, this had a significant impact on health, but also added to the fear and anxiety experienced by patients and their families.

Rare disease healthtech, Xperiome, and research consultancy Magnolia Innovation recently ran a ‘COVID-19 and You’ Survey to explore this, seeking to understand the changes in patient and caregiver behaviour and uncover the emotional toll of the pandemic.

An initial analysis following responses from nearly 80 rare disease patients and caregivers painted a bleak picture of isolation, uncertainty and an increased sense of urgency to improve symptoms due to the fear of hospitalisation. Three major themes arose from the analysis:

1. Increased anxieties about managing their condition and the risk of contracting COVID-19

Respondents expressed worry and caution about the effects of the pandemic and the challenges it posed to managing a rare disease. More than a year on from the first wave, 25% of respondents said they were now looking for information about their rare disease more often than before the pandemic, and 43% said they regularly spend time searching for information on how COVID-19 could affect their rare disease.

The comments provided illustrate these anxieties and show a desire for others to understand the seriousness of their situation.

  • “We may look fine and healthy, but our lives, and our risk levels, are much different than yours.”
  • “We are more at risk, and COVID-19 has made us very unsocial as we can’t meet up with others or go shopping, in fear.”

Added to this is the concern over the effect that coronavirus, or the associated vaccines, might have on their disease and their treatment plans. Rare disease patients and caregivers are seeking more information and reassurance to make an informed decision regarding the benefit-risk of vaccination.

  • “It has made me even more careful about getting sick. I take good care of myself, but the thought of having COVID-19 really terrified me, so I have been extremely careful.”
  • “It’s made me a bit more anxious. I’m going to take the vaccine but am worried about the side effects.”

2. Fear of hospitalisation

Respondents are seeking to minimise the need to expose themselves to a hospital setting. They placed a heightened importance on how well a treatment is working at improving symptoms and reducing hospitalisation compared to prior to the pandemic. In addition, 27% of participants also said they are now more likely to search online for new treatment options because of COVID-19.

  • “I’m terrified. I don’t want to go near the Doctor’s rooms or hospitals as I’m more at risk there.”
  • “I am about to start [drug name] and researched to be sure it would not weaken my COVID-19 vaccine or put me at risk at work or [in the] community.”

3. Desire to be better understood

On a more positive note, some of the survey respondents shared that their condition has prepared them for the COVID-19 measures and normalised a lifestyle they already faced. They shared a hope that others may finally begin to understand and have more empathy for people with rare diseases or disabilities.

  • “This is a taste of what I live normally, isolated from many friends, and activities.”
  • “I hope it’s been a wake-up call to employers that you CAN make accommodations for disabled people like we have been asking for years, like working remotely.”

What does this mean for industry?

The impact of the COVID-19 pandemic on rare disease populations has been profound, so what actions can the pharma industry take that will have a direct impact on the rare disease community? Most obvious is the importance of reinvigorating orphan drug research, which was significantly disrupted during the pandemic, with trial site closures, trial delays and even cancellations.

The disruption faced across all clinical trials resulted in the adoption of technology to enable remote data capture and communication with patients – effectively making the majority of trials ‘decentralised’. The sudden need to enable remote participation has arguably advanced the uptake of such technology by many years. This has significant benefits for rare disease patients who are geographically dispersed and often limited in their ability to make multiple long journeys, but suitable studies are frequently run from sites many hours away, or even in a different country. In fact, the mainstream acceptance of telehealth such as video calling and home monitoring, both in clinical research and in healthcare as a whole, will significantly benefit the rare disease community.

In the survey discussed above, access to information was a recurring theme for rare disease patients and caregivers. From the arduous journey to get a diagnosis, to the impact of COVID-19 on their specific condition, and the added concern over whether treatments would make them more or less likely to need to visit the emergency room, lack of information is a constant challenge for the rare disease community.

As evidence builds, industry is accumulating a body of knowledge regarding the real-world impact of COVID-19 and the associated vaccines on treatments. Healthcare providers, regulators and pharma companies must work together to pool data on both the impact of the disease and the effectiveness of treatments to understand and communicate both the risk of infection and the benefit-risk of treatment options for rare disease populations.

Building a future together

Rare disease patients face unique challenges in their everyday lives. Information is hard to come by and treatment options are few and far between, so many times they just want to be heard. They are also often self-made experts who are highly motivated to support other people who have been recently diagnosed.

The rise in internet usage across demographics provides the ideal opportunity to connect rare disease patients, their families, and caregivers so they can share experiences, fill knowledge gaps and feel reassured that other people are having the same experiences as themselves.

In doing so it would provide opportunity for peer-to-peer support for a community that often feels very isolated, but also opportunity for industry to build relationships with patients and learn from the community; what do they need to focus on in order to further drive patient engagement, what challenges are patients and families facing with treatment options (or lack of them)? By creating an unbiased two-way dialogue industry can build the understanding it needs to become truly patient-centric, and patients can help shape the future of research and find the answers they need the most.

Jeremy Edwards is CEO of Xperiome