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Rare diseases in the time of covid-19: once forgotten, always forgotten?

The covid-19 pandemic has affected every thread of every fabric of our society and none more so than the most vulnerable among us—individuals with rare diseases. 75% of those affected by rare diseases are children who are medically fragile and suffer from complex medical challenges.1,2 Rare diseases are predominantly chronic in nature, arise from genetic causes, and are often life-threatening.3 Despite the fact that there are more than 7000 rare diseases affecting around 350 million people worldwide,4 and in the UK there are approximately 3 million people affected by rare illness,3-7 this population has not yet received the attention from society and the medical community that it requires, or deserves. 

Even in the best of times, individuals with rare diseases and their caregivers report facing significant care inadequacies and unmet clinical needs as a result of their illness.1,4,8 Many rare diseases are life-limiting and associated with increased likelihood of premature mortality; and even if lifespan is unaffected, quality of life usually is.1,2 This is an especially complex and vulnerable patient group.

Patients with rare diseases, as well as their caregivers, report feeling “left in the dark” and unsure about many aspects of their health and healthcare, such as uncertainty around diagnosis, life expectancy and prognosis. Researchers and academics, such as ourselves and other teams around the world, have been working tirelessly to address these unmet needs and give these patients the chance to receive a good standard of healthcare—and we have made progress. 

However, this progress has been reversed during the current covid-19 pandemic. Patients with rare diseases report receiving conflicting and often incorrect advice, they are unsure whether they should be self-isolating, how stringent those self-isolation measure should be, and whether they are eligible for government support.

Certain individuals were granted “extremely vulnerable” status by the NHS and the government, and were recommended to “shield” at home. Recommendations over the first few months of the pandemic included not leaving the house, not attending any gatherings and avoiding strict contact with anyone displaying covid-19 symptoms. Yet there was much confusion about who should be advised to shield, and who should shield (even if not classed as “extremely vulnerable”). Patients reported being misled, and receiving conflicting communication in the form of verbal advice, letters and text messages. 

One example of patients in this predicament are those with Wolf-Hirschhorn syndrome (WHS), which is caused by a deletion on the 4p chromosome. Its incidence rate is estimated as 1 in 96 000 live births.9 All patients with WHS should be classed as “extremely vulnerable” and should have been advised to “shield” since they meet the NHS criteria of having a “chronic neurological condition”, with significant immunodeficiency at the core of this illness.10 Further clinical features include syndrome-specific craniofacial features, cardiological, neurological and developmental features, such as severe epilepsy and learning disability, muscle weakness and gastrointestinal issues.9,11-25 

In our view, there should be no debate as to whether these patients should be classed as “vulnerable” or not—the evidence is clear that they should. However, caregivers and family members of patients with WHS in the UK were given differing advice and communication as to whether their children and family members should be classed as “vulnerable” and whether they would be eligible for additional support. Some were told by administrative staff that their child/relative with WHS does not qualify as “vulnerable” and were left feeling terrified and uncertain, while others have had no trouble in getting confirmation and guidance. There has also been an element of luck as to whether or not family members and caregivers managed to access a phone consultation with their GP. This in itself is an inequality and unacceptable. 

This is just one example of patients with a rare disease facing potentially serious health inequalities during the pandemic, in addition to the insufficient provision and care inadequacies they were already facing before covid-19.

In our opinion, we need a standard of care for patients with rare diseases—a standard where patients with those diseases are not left behind, forgotten or considered as an afterthought. With 3 million patients with rare diseases living in the UK, these patients must be included, protected and safeguarded. 

It is important to note that we are, in no way, blaming the health care system—the NHS has been amazing and incredible in its response to the pandemic. What we are criticising is the lack of standardisation, the lack of targeted (and strategic) identification of vulnerable patients due to unachievable time pressures mandated by the government, the lack of overall guidance and the lack of training for those staff who are deciding whether or not patients are classified as “vulnerable.” Rare diseases are complex and simple “tick box” exercises do not apply. Those of us working in the field of rare diseases have long understood this and have advocated for our patients.

To emerge from the covid-19 pandemic as a stronger society than we were before it, we urgently need to unite rare disease organisations’ resources with mainstream medical care so that we do not leave our most vulnerable patients behind.

Katharina S. Vogt, Lecturer in Health Psychology, Department of Psychology, University of Huddersfield, UK. 

Karen S. Ho, President, Hopeful Science, USA.

Competing interests: none declared. 

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