Rare reality of COVID-19

COVID-19 is not (currently) a rare condition, but has much in common with those that are: there are as yet no bespoke treatments, it is highly variable, and there is much about it that we don't know.

Since the end of March, Genetic Alliance UK has been hosting weekly community online meetings with voluntary sector groups. We have published the learnings from these meetings alongside UK data collected from the EURORDIS Rare Barometer COVID-19 survey. Our report, 'The Rare Reality of COVID-19' describes the impact of the pandemic, and the UK's response to it, on the lives of people with rare conditions. Writ large is that the pandemic has served to amplify the levels of isolation and anxiety ordinarily felt by many people living with rare conditions.

Issues relating to shielding have been raised more frequently in our community meetings than any other. Though we accept there are inherent challenges in providing shielding guidance, it is our view that many of these issues were avoidable. Guidance on shielding has changed several times, sometimes suddenly, mostly without clear rationale. Letters conferring the 'extremely clinically vulnerable' status - those who are formally advised to shield - came late, or not at all, and were allocated inconsistently. Many elements of real life have not been addressed - for instance, families with a child who must be shielded have not received clear guidance on what to do about a parent needing to go to work, or a sibling being invited back to school.

A significant portion of children with rare conditions have special educational needs and disabilities (SEND). The Coronavirus Act suspended many of the legal duties of local government to provide support for children with SEND; downgrading the duty of provision to a requirement of 'reasonable endeavours'. Just as children with SEND were taken out of school and in greater need of home support, this was being taken away. Getting children with SEND back to school will be challenging, especially for those who need routine or find new environments challenging.

Interruption of access to ongoing health care for those with rare conditions is at best undesirable and at worst disastrous. From the rare barometer survey, we learned that around half of people with rare conditions have not attended their usual hospital appointments during the pandemic. The reasons given included fear of contracting COVID-19, and unit closure. Patients also reported re-allocation of resources and equipment from their service to tackle the pandemic. More than half believe this has been definitely or probably detrimental to their health. Additionally, one in five reported interruption to the supply of a medicine for their rare condition. This temporary loss of access to health care will have long-term effects. Delayed diagnoses, periods without treatment and paused physiotherapy will all have knock on effects for months or years to come.

On a positive note, more than half of the respondents tried remote consultations for the first time during lockdown, with more than 80 percent describing the experience as useful. However, remote consultations do not work for everyone and there are serious issues with equity of access.

We could have been better prepared in the UK to help people living with rare conditions through this crisis. The UK Strategy for Rare Diseases (2013) discussed telemedicine in the context of improving care coordination - yet none of the progress reports since have mentioned the topic. We may have been better prepared to handle the complex task of issuing shielding guidance had progress towards integrating information about specific rare conditions into the structure of the electronic health record been further progressed. However, we are still in the position that our categorisation of conditions lacks the granularity to specifically record every known condition.

Our recommendations address how best to improve matters during the pandemic for people living with rare conditions, successfully transitioning from the crisis state, and applying what has been learnt for the future. In a letter to the Secretary of State for Health, Genetic Alliance UK has drawn specific attention for the need to develop a tool that is able to deliver tailored risk assessments for those with rare diseases. Building on the tool already developed by the British Society of Genetic Medicine should support the targeting of any future guidance on shielding. In the same letter we have asked for the gains made during this crisis period to remain - telemedicine for example, has been implemented widely, sometimes for communities that have been asking for it for years. As we necessarily return care to 'normal' there are opportunities to pull the best of learnings from the greatest of challenges. We need now, to make sure that these opportunities are not missed.