Survey data shows individuals are not informed on how COVID-19 could affect their conditions.

Collectively, rare diseases affect around 4%-6% of the global population–about 300 million people, where half are children living with rare genetic disorders. Patient populations for individual diseases are usually small and spread out across many geographies, making it difficult for researchers to find sufficient people to participate in their studies. Unlike more common ailments, historical rare disease data is either not comprehensive or not available at all.

Along with being difficult to research, living with rare diseases is often extremely challenging. Healthcare providers may not have access to relevant information, making diagnosis and ongoing support difficult, with some conditions so rare that doctors may not have encountered them before. Patients usually move from doctor to doctor, trying to get an accurate diagnosis. There have even been accounts of patients waiting nearly three decades for a diagnosis.

It is not that surprising then to see that many of the COVID-19 vaccine trials lacked participants with rare diseases, even though they are one of the patient populations most vulnerable to COVID-19. Unfortunately, rare disease patients are well-versed in dealing with uncertainty–many times, they, along with their caregiver, have to make tough decisions about their health, often with limited guidance from health specialists.

How, then, are rare disease populations navigating the uncertainties around the vaccines and their overall health due to COVID-19?

Rare disease healthtech, Xperiome, and research consultancy Magnolia Innovation, are running a ‘COVID-19 and You’ survey to understand how COVID-19 has impacted the rare disease community. The survey aims to uncover the emotional toll of the pandemic, along with changes in patient and caregiver behavior. It is open to anyone aged 18 or over who has a rare disease or cares for someone with a rare disease. The survey results will be fed back to participants incrementally and shared with orphan drug researchers to help them build a deeper understanding of the needs of rare disease patients, particularly during a global pandemic.

Initial findings from nearly 80 rare disease patients and caregivers that have taken part so far include eye-opening responses that paint a picture of isolation, uncertainty, and an increased sense of urgency to improve symptoms due to fear of hospitalization.