RARE Daily

We are not Groundhogs

July 22, 2020

In the United Kingdom, health regulators use the term “shielding” to describe precautions of staying at stay-at-home and avoiding contact with others for people who are medically vulnerable and at risk for developing serious reactions to the COVID-19 virus.

A group of clinical geneticists, writing in the BMJ blog this month, address who should continue to shield as the British government prepares to lift restrictions August 1. The problem, they note, is the lack of clear and consistent guidance to offer people with rare diseases and they point to a tool that may help.

“Those with complex health needs and/or chronic health conditions who have been shielding have been hugely affected by this challenging undertaking on social, emotional, and economic levels,” they write. “However, the process of ascertaining individuals’ risk from COVID-19 and the precautions they should undertake is complex and has been fraught with inconsistencies, errors, and controversy.”

They note that people with rare diseases with comorbidities have been advised to take precautions, but they are concerned that as restrictions are lifted, these people may be left behind. One problem is that the risk of COVID-19-related complication varies greatly, but there is not a strong scientific understanding of what makes someone particularly vulnerable.

It is known that respiratory, kidney, and autoimmune problems, as well as diabetes, can lead to severe problems. Obesity and ethnicity, they say, can also be risk factors. But they warn more data is needed to understand who is at risk and why. Those difficulties are amplified by the lack of understanding we have about many rare diseases.

To address the problem, the British Society for Genetic Medicine and the Clinical Genetics Society have been collaborating with clinical geneticists at Great Ormond Street Hospital for Children to develop a new COVID-19 risk assessment tool. The survey tool, which is available online, can be used to help determine the risk of someone with a rare disease during the pandemic. The tool is intended to help people assess their level of risk and better advise them on precautions they should take, even though they acknowledge that more evidence is needed to do this more accurately.

Rare disease patients and caregivers, like others, are getting a bit stir-crazy. But as restrictions are relaxed there is a risk that people may get careless, may feel pressure to return to a workplace or schoolroom, and may not have a clear understanding of what their risks are. And that is by no means an issue limited to the United Kingdom.

As the authors write, we don’t know how long we will be living with this pandemic, or how many waves we may have to endure. In the absence of the types of clear guidance we’d all hope to be able to rely on, at least people with rare disease can avail themselves of a simple tool to guide them with the best information available rather than simply relying on their gut,  rolling the dice, or checking if they see their own shadow.

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