Rare diseases are often chronic, complex, progressive and severely disabling conditions, typically requiring specialist, multi-disciplinary care. Approximately 7,000 rare diseases have been identified, affecting approximately 300 million people worldwide.
EURORDIS, an alliance of patient organisations representing the voice of rare disease patients in the EU, has outlined the impact that the COVID-19 pandemic is having on the lives of those living with a rare disease in an open letter to policy makers.
Research Partnership has extensive experience within the rare disease area; as such, I wanted to explore some of the key areas of impact identified in EUORDIS’ letter in further detail, and cross-reference these with insights from our rare disease experience.
Disruption to medical appointments
There are many commonalities in the patient journey across rare diseases, from detection / diagnosis through to living with the condition, and the ongoing impact that it has on daily life. One such commonality is that due to the often severe and progressive nature of these conditions, regular medical appointments with a variety of different healthcare specialists are required to assess patients and provide treatment on an ongoing basis.
Given that only 30% of currently known rare diseases actually have a pharmaceutical treatment option, holistic treatment approaches that focus on managing and alleviating symptoms associated with the condition, for example with surgery, physiotherapy, counselling, rehabilitation, social care etc. are often used, in addition to providing respite to caregivers.
As a result of the COVID-19 pandemic, patients (of all conditions) are experiencing disruption to medical appointments / care for a variety of reasons – appointments are being cancelled to enable HCPs to support the COVID effort, or to self-isolate; elective or non-essential surgeries are being cancelled; and some patients are reluctant to attend non-cancelled appointments through fear of catching COVID-19.
For patients with rare diseases, inability to access their usual medical care can lead to severe deterioration of symptoms, possible complications with their condition, and basic / personal hygiene needs not being met. In addition, for many rare diseases (especially those that are degenerative or life limiting), early identification and diagnosis is vital. Where pharmaceutical treatments exist, they’re often more effective in preventing / delaying disease progression if administered as early as possible. Delays therefore to investigative tests (e.g. imaging, lab tests, psychological assessments etc.) are detrimental to those undiagnosed or living with a rare, degenerative condition.
Deteriorating mental health
According to an article published in the Orphanet Journal of Rare Diseases that looks at the complex relationship between rare diseases and mental health problems, it’s clear that the incidence of mental health issues amongst rare disease patients is far higher than that within the general population.
Rare disease patients often suffer higher levels of anxiety, depression and stress etc. compared to the rest of the population - from the research we’ve conducted with rare disease patients and their caregivers, we know there are often a number of reasons for this.
Some rare disease conditions naturally heighten anxiety / mood issues due to the intrinsic nature of the condition. Rare disease patients may often look or behave differently to ‘normal’, with patients often stigmatised / bullied as a result. Living with what you know to be a life-limiting condition, with often minimal treatment options will obviously have a negative impact on mental health. Many rare conditions also result in cognitive impairment / intellectual disability, requiring complex management that often incorporates a number of outdoor activities including outdoor play, exercise, being surrounded by nature etc.
It goes without saying therefore that the lockdown limitations will have undoubtedly had a considerable negative impact on the mental health of both rare disease patients, and their caregivers / other family members.
Due to the nature of their conditions, those living with a rare disease are amongst the most vulnerable; however, EU guidelines do not consider them a priority to test for COVID-19, unlike other vulnerable populations such as the elderly, diabetics, or cancer patients. COVID-19 testing guidelines also exclude children (as they’re deemed to be lower risk); however 70% of rare genetic diseases develop / become apparent during childhood.
Because rare disease patients aren’t systematically included in the “at risk” patient group, schools / employers don’t necessarily recognise the need to better accommodate such patients during the pandemic.
We know from previous research that we’ve conducted that rare disease patients often face challenges at school / work with the lack of understanding / knowledge about their condition – not only in terms of bullying, but also in terms of lack of adjustments to the school / work environment to ensure that it accommodates the patient’s needs. Lack of recognition in COVID-19 guidelines that rare disease patients are a high-risk group during the pandemic only exacerbates this issue further.
Issues accessing treatment
The pandemic poses many treatment related challenges for patients living with any condition; however the impact is heightened in those living with a rare disease.
EU legislation outlines a “right to cross-border health” to ensure that patients can access the treatments / specialists that they need. This is particularly important for rare disease patients where specialists in their condition are often few and far between, and scattered globally; current travel restrictions therefore pose a big issue for those needing access to specific specialists.
Some rare disease patients are also facing potential supply issues with their treatment due to a number of reasons - the shutting of borders has had an impact on the manufacturing, transportation and distribution of pharmaceutical products; and in addition, some treatments that are widely used within the rare disease community such as hydroxychloroquine and azithromycin are being re-purposed as COVID-19 treatments, resulting in reduced availability of such treatments.
We know from the rare disease research we have conducted that, even prior to the pandemic, some patients were experiencing supply issues with their treatment, especially those using biologically derived treatments, such as those derived from human plasma for example. S upply chain issues as a result of COVID-19 will only increase the challenges for patients reliant on such medication to save their lives.
Finally, there is concern amongst the rare disease community about the impact that COVID-19 will have on new drug development. As we know, numerous clinical trials have been cancelled, including trials for cell and gene based therapies that have the potential to revolutionise the treatment of rare diseases; for example, trials for a new genome editing technology called CRISPR (that is able to remove the faulty ‘disease causing’ gene, and replace it with the functioning gene) have been delayed due to the current pandemic.
There is also concern that the granting of orphan designation to COVID-19 as a result of case numbers meeting rare disease definitions at the time of granting (less than 200,000 people in the US, and less than 2,000 people in the EU), and the expedited approval of associated treatments as a result of this designation, could have a negative impact on treatments being brought to market for genuine rare diseases.
Clearly the impact of COVID-19 on the rare disease community is considerable - rare disease charities are certainly experiencing increased call volumes from patients and caregivers looking for additional support and advice.
It’s critical, even during this unprecedented time, that the needs of rare disease patients and their caregivers are still being met. Market research could therefore be crucial during this time to ensure not only are new ‘pain points’ and support needs better understood (and addressed), but also to provide these patients and their families with a voice, so that they know they haven’t been forgotten.