Understanding Rare Chromosome and Gene Disorders

COVID-19 General Advice

#StayHomeStaySafe

Check out Unique’s guide for families, containing lots of Covid-19 related information, guidance, ideas, resources and sources of help. Includes education, health, therapies, activities and much more. Click Here to read and download it (free of charge), then click Practical Guides for Families and scroll to Self-isolation guide to helpful resources.

NEW interactive online patient tool for people with rare diseases to better understand their risk of Covid-19

26th May 2020

A new patient interactive tool that allows people with rare diseases to better understand their risk of Covid19 has now been released.

It is the result of a collaboration between the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT company). The tool is based on advice from major specialist colleges in the UK and can be accessed here or you can copy and paste the link below:

https://is.gd/covid19_gosh

The purpose of the tool is to open a conversation with the patient’s primary physician –it does not replace individualised advice. 

Video versions of Covid-19 Information for People with Rare Genetic Disorders

6th May 2020

Video versions of Covid-19 Information for People with Rare Genetic Disorders
Video versions of Covid-19 Information for People with Rare Genetic Disorders

Information regarding COVID-19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders are now available in video versions for people with visual impairment and people who prefer audio/visual information rather than text.

With thanks to the British Society of Genetic Medicine, the Clinical Genetics Society and the Association of Genetic Nurses and Counsellors for producing these videos.

Video 1: Covid-19 and Rare Disease: Overview

Video 2: Covid-19 and Rare Disease: What makes people more vulnerable to Covid-19

Video 3: Covid-19 and Rare Disease: Understanding your risk from Covid-19

Video 4: Covid-19 and Rare Disease: What should you do if you are extremely vulnerable to Covid-19

Video 5: Covid-19 and Rare Disease: What to do if you have symptoms of Covid-19

Video 6: Covid-19 and Rare Disease: I am worried about letting carers into my home

BSL Translations of Covid-19 Information Sheets for People with Rare Genetic Disorders

6th May 2020

Information sheets regarding COVID-19 for people with rare genomic disorders is now available in BSL (British Sign Language).
BSL Versions of COVID-19 Information Sheets

The information sheets regarding COVID-19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders are now available in BSL (British Sign Language). With thanks to the British Society of Genetic Medicine. the Clinical Genetics Society and the Association of Genetic Nurses and Counsellors for producing these videos.

BSL Covid-19 Rare Disease: Information Sheet 1 – Overview

BSL Covid-19 and Rare Disease: Information Sheet 2 – What makes people more vulnerable to Covid-19

BSL Covid-19 and Rare Disease: Information Sheet 3 – Understanding your risk from Covid-19

BSL Covid-19 and Rare Disease: Information sheet 4 – What should you do if you are extremely vulnerable to Covid-19

BSL Covid-19 and Rare Disease: Information Sheet 5 – What to do if you have symptoms of Covid-19

BSL Covid-19 and Rare Disease: Information Sheet 6 – I am worried about letting carers into my home

Shielding Posters

1st May 2020

Please click below for the shielding poster to print off & display on your front door to warn others that you and your family are shielding.

New general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders

14th April 2020

Below you will find some new information sheets regarding COVID-19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders.

These information sheets were kindly written and produced by Dr Elizabeth Forsythe, Dr Lara Menzies, Kelly Kohut, Dr Nicki Taverner, Professor Eamonn Sheridan and Dr Frances Elmslie, on behalf of the British Society for Genetic Medicine, the Clinical Genetics Society and the Association for Genetic Nurses and Counsellors.

Now, read on for some general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders:

  • Includes patients with developmental disorders and undiagnosed developmental delay, rare single-gene disorders and chromosomal disorders.
  • Excludes patients with severe congenital heart disease, immunodeficiency disorders or lung disease e.g. cystic fibrosis, who should follow the advice of their existing specialist advisors e.g. cardiologist, immunologist or respiratory paediatrician. If your child has a pre-existing lung or breathing problem, please seek the advice of their specialist doctor.

We understand the Coronavirus (COVID-19) pandemic is very concerning for everyone but this may be especially so for families caring for individuals with developmental disorders, undiagnosed developmental delay, rare single-gene disorders and chromosomal disorders. Coronavirus can cause severe lower respiratory tract infection in some individuals especially the elderly and those with pre-existing disorders. In general, children appear to be more mildly affected than adults but anyone with a genetic disorder that compromises their swallowing or breathing or who suffers from frequent respiratory infections or has previously been hospitalised for respiratory problems may be at higher risk. There are as yet very few data about infection rate in children. Overall the death rate is much lower than in older people.

This is a rapidly changing situation with new guidance issued regularly as things evolve. Please check NHS guidelines available here: https://www.nhs.uk/conditions/coronavirus-covid-19/. If you are outside the UK, please check your country’s guidelines (e.g. for the US: https://www.cdc.gov/coronavirus/2019-ncov/).

Please see the WellChild website for a clear 10 point plan and information specifically for parents and carers of medically complex children: https://www.wellchild.org.uk/2020/03/18/ten-ways-to-keep-my-child-with- complex-health-needs-safe/. This includes a helpful link to a poster to put on your front door to advise visitors to your home of the precautions they need to take.

If, at any point, you think you or your child has developed symptoms of coronavirus, such as a new, continuous cough and/or high temperature (above 37.8 °C), seek clinical advice using the NHS 111 online coronavirus service (https://111.nhs.uk/covid-19/). If you do not have access to the internet, call NHS 111. Do this as soon as you get symptoms.

The situation is rapidly evolving but the evidence to date suggests that it would be sensible for all vulnerable individuals, especially those with pre-existing respiratory problems or any immune-compromise, to take additional precautions to limit their exposure (e.g. minimising contact with people outside their immediate family group). Please see this link for advice on social distancing and additional measures for those who may be at increased risk of severe illness from coronavirus (COVID-19). https://www.gov.uk/government/publications/covid-19-guidance-on-social-distancing-and-for-vulnerable-people/guidance-on-social-distancing-for-everyone-in-the-uk-and-protecting-older-people-and-vulnerable-adults

Dr Helen Firth,  Chair, Joint Committee on Genomics in Medicine 

Dr Frances Elmslie, Chair, Clinical Genetics Society

Professor Eamonn Sheridan, Chair, British Society of Genetic Medicine