Jayne Spink
Chief Executive Officer, Genetic Alliance UK & EURORDIS Board Member
COVID-19 has hit people living with rare conditions hard. They may be more vulnerable to infection, susceptible to greater severity of symptoms once infected and there is a risk that infection could trigger a deterioration of their underlying condition.
The impacts of COVID-19 have fallen heavily on the rare community. Shielding and self-isolation have amplified levels of isolation and anxiety ordinarily felt by many people living with rare conditions.
Efforts to contain COVID-19 built barriers to the daily basics of living as well as critical services such as health and social care, care at home, education and respite. Many individuals and families have been placed under immense pressure.
Preliminary figures published by Eurordis paint a distressing picture
Across Europe, hospital units providing specialist care were closed, disrupting the care of nine out of 10 rare disease patients. Of these, six in 10 report these closures as detrimental to health and three in 10 report these interruptions as either definitely or probably life-threatening.
Delayed diagnoses, periods without treatment and therapies will all have significant impacts for months or years to come.
One in five reported interruption to the supply of a medicine for their rare condition and more than half of those who needed surgery or transplant had these interventions cancelled or postponed. Delayed diagnoses, periods without treatment and therapies will all have significant impacts for months or years to come.
Charities need financial support to recover
As charity finances suffer, so too will early stage studies into rare conditions and research careers that feed the pharma and biotech pipeline.
But there are some silver linings. Firstly, during COVID-19, many rare disease patients had access to remote care or telemedicine for the first time. Judiciously used, and properly integrated into care-pathways, telemedicine could help to relieve the burden of care coordination that has fallen to patients and families. This reduces expenses, disruption and effort of travelling to appointments, while providing easier and timely access to medical advice and monitoring that could significantly benefit clinical care and research.
We must hold onto the progression seen as a result of COVID-19
Secondly, we have witnessed a level of collaboration and regulatory innovation in the development of treatments and vaccines for COVID-19 that few would have imagined possible pre-pandemic.
These approaches and flexibilities could serve as a template for acceleration of development of orphan medicinal products, bringing hope to the estimated 95% of rare diseases for which there are currently none.
The greatest pity for the rare community would be to emerge from the pandemic to a restoration of the pre-COVID-19 status quo.
