For the last few weeks, we have been covering COVID-related stories, from the sequencing of the virus, the research efforts, and the latest on the detection and spread. However, we recognise that COVID has impacted the community far beyond a change in research focus.
Today, we focus on the impact the pandemic is having on the rare disease community.
Naturally, the COVID-19 pandemic has raised global concern throughout the rare disease community, some of whom are among the most vulnerable in society. With social distancing measures being put in place, healthcare is being disrupted. Patients may be struggling to get the specialist care that they need either because they are anxious to go to hospital for routine appointments, or because their healthcare schedule is being disrupted.
In order to help shed some light on the struggles this part of our community is facing, we have pulled together some information about:
- The challenges the pandemic is presenting for the patients
- How rare disease research and charities have been affected
Please note that this is not exhaustive, just a few challenges that we have been made aware of. If you have anything else to add to this list, please let us know here.
Eurordis, a non-governmental patient-driven alliance of patient organisations across Europe, wrote an open letter to policy makers on how the pandemic is affecting rare disease patients and what policy makers can do to help. A summary of their challenges can be found here:
Access to healthcare
There has been a surge of patients seeking medical attention due to the pandemic, stretching the capacity of healthcare in terms of resources, causing a the following issues for people living with a rare disease:
- Their regular medical advice is restricted, and continuity of care has been disrupted, including routine treatments that occurs in a clinical setting.
- Certain treatments that are deemed “non-essential” are being cancelled or postponed. As rare diseases can be highly debilitating, waiting for intervention can result in deterioration.
- Due to the limited expertise on rare diseases, should patients become ill with COVID-19 themselves, they may face barriers in hospital care as there are no protocols set in place for their care.
- As the virus is considered milder in children, many testing services exclude children as they are considered low risk, which can be problematic as 70% of genetic rare diseases start in childhood.
Screening and diagnosis
- Many appointments for routine clinical investigations such as medical imaging or diagnostic tests are being postponed or cancelled, which could delay diagnosis of a rare disease.
Everyday life and work conditions
- As people living with rare diseases are not systematically reported as “at risk” to COVID-19 it means that employers are not necessarily offering special accommodations for them.
- The pandemic has brought upon financial struggles and charities have set up funds to help families of rare disease patients who have been financially affected by the virus.
Development of and access to medicines
- Due to supply difficulties in certain countries, people living with rare disease may have difficulties in accessing their medications.
- The repurposing of medicines to manage COVID-19 is stretching the available resources from their usual dispensation, some of which are widely used in the rare disease community.
- EURORDIS also expressed concern over the possible abuse of orphan drug regulations for the expeditious development of COVID-19 treatment, which may be detrimental to efforts to bring genuine orphan medicines to market and will have a negative impact on rare disease patients’ access to other much-needed medicines.
Research on rare diseases
- The COVID-19 pandemic poses a threat to vital rare disease clinical trials as they are being cancelled due to patient safety, or an unwillingness to travel. For some rare diseases, the cancellation of the clinical trial could have a larger negative impact on their life expectancy than contracting the virus.
- The crisis may require changes to clinical trial design that relies on tools and apps in order to facilitate social distancing, but this practice is not widely used.
- Research is also focusing on repurposing certain rare disease drugs to help fight the most severely affected COVID-19 patients. Alexion, a pharmaceutical company that focuses purely on rare diseases, is currently conducting a phase-3 open-label, randomised, controlled study to test the safety and efficacy of their drug ULTOMIRIS in adult patients with COVID-19 who developed severe pneumonia, acute lung injury or acute respiratory distress syndrome.
- ULTOMIRIS is a C5 inhibitor that is administered in patients with Paroxysmal nocturnal haemoglobinuria, a rare blood disease which causes red blood cells to break apart causing anaemia, blood clots and impaired bone marrow function.
Rare disease charities
Given the additional concern of patients during this troubling time, rare disease charities have reported an increase in calls and demand for support. Despite having a large reach, some of the charities run on small teams, rely entirely on voluntary donations and are struggling to keep up with the demand. Likewise, the risk of staff absences during the pandemic on small teams may mean that the services that the charities would usually provide may be disrupted.
Most of the leading rare disease organisations and charities have released statements and documents that provide as much information and advice as possible to the community at this time that is publicly available online. For example, Genetic Alliance UK has launched an online hub of support and advice on how to best protect themselves. This helps make the information needed by rare disease families more accessible.
You can help support rare disease charities by donating or volunteering, particularly if you have been furloughed or are currently not working and find you have more time on your hands. Likewise, words of encouragement and gratitude can be great morale boosters!
Again, we will continue to add to this as we ride the wave of the pandemic, so if you have anything to add to this, please let us know.
