Rare Resources Scotland is a project run by Genetic Alliance UK with the aim of improving access to high quality information and support for people living with rare, genetic and undiagnosed conditions in Scotland.
In collaboration with people living with rare conditions, support organisations and healthcare professionals, we have developed a collection of helpful information guides and resources for:
This Rare Resources guide is for families who have recently received a diagnosis of a rare condition, are on the journey to a diagnosis, or have been told their child’s condition is so rare they may not get a diagnosis.
The Rare Resources Guide for Families provides a brief introduction to what it means to have a genetic, rare or undiagnosed condition and provides useful links to where you can find sources of reliable information and support.
Download the Rare Resources Guide for Families here.
In addition to the Guide for families, we have developed a toolkit of information guides to assist you and your family to find reliable sources of support. Each guide contains valuable information, links to support that is available and provides Top Tips from families.
The Rare Resources Information Directory contains links and contact details for a variety of sources of support available in Scotland. This includes organisations that can help provide:
Download the directory here
This Rare Resources guide is for adults who have recently received a diagnosis of a rare condition or are on the journey to a diagnosis,
The Rare Resources Guide provides a brief introduction to what it means to have a genetic, rare or undiagnosed condition and provides useful links to where you can find sources of reliable information and support.
Download the Rare Resources Guide for Adults here.
The Rare Resources Information Directory contains links and contact details for a variety of sources of support available in Scotland. This includes organisations that can help provide:
Download the directory here.
This Rare Resources guide is for health professionals involved in the care of people with a rare condition in Scotland. It may also be useful for social care professionals, education providers and family support workers.
This guide includes:
A disease or condition is defined as rare if it affects fewer than 1 in 2,000 people within the general population.
There are over 7,000 known rare conditions. Although
individually rare, rare conditions are collectively common.
1 in 17 people will be affected by a rare condition at some point in their lives. This amounts to approximately 320,000 people in Scotland.
People living with a rare condition recognise and understand that health professionals may not be experts in their condition, however they do expect that those involved
in their care will have an understanding of what it means to
have a rare condition.
It is important for professionals to recognise the additional needs of people living with rare conditions and their families and support them to access appropriate care and support.
The Rare Resources project has developed a pack of promotional materials designed to encourage healthcare professionals to ‘Think Rare’. The pack contains information cards with QR code links to Rare Resources, posters, badge clips and table tents.
To request a pack for your department, contact rareresources@geneticalliance.org.uk
1 in 17 people in the UK will be affected by a rare condition in their lifetime. Therefore it is very likely that healthcare professionals will work with people with a rare condition throughout their career.
Although it will not be possible to have knowledge of all rare conditions, it is essential that healthcare professionals recognise the additional challenges families face and be aware of the many organisations that provide reliable information and support
Genetic Alliance UK is a national alliance of organisations with a membership of over 200 charities that support children, families and individuals affected by genetic conditions. You can search a list of member organisations on the Genetic Alliance UK website, or contact Genetic Alliance UK’s Policy and Engagement Manager for Scotland for advice.
Unique provides support for families affected by rare chromosome disorders or autosomal dominant gene disorders. They provide free guides on specific chromosome and gene disorders.
Office for Rare Conditions Glasgow works to support people and families who attend hospitals in Glasgow and the West of Scotland, and the healthcare professionals who support them. Funded through Glasgow Children’s Hospital Charity, the office provides information and signposting, educational and patient support events and encourages participation in research.
Contact is a charity for families with disabled children. Their website provides a searchable A to Z directory of medical conditions with links to information and support organisations.
Orphanet is an online portal that provides information on individual conditions.
PubMed links to medical literature, including journal articles about a wide range of conditions.
NORD (National Organization for Rare Diseases) is an American rare disease database providing brief introductions to over 1000 rare conditions.
National Managed Clinical Networks for Scotland are developed where the full range of specialist care for patients with rare conditions or complex needs are not available locally or regionally. Each National Managed Clinical Network is responsible for designing pathways of care. A full directory of national managed clinical networks can be found on their website.
Highly Specialist Services: National Services Division commissions highly specialist services for people with rare conditions and/or complex needs. A full directory of commissioned services can be found on their website.
Institute of Genetics and Cancer. The IGC Shining a Light Series is a collection of webinars showcasing rare, genetic and undiagnosed conditions.
ScotGen The Scottish Genetics Education Network (ScotGEN) is a network for all individuals involved in teaching genetics for healthcare in Scotland. The ScotGEN website provides access to a range of learning and teaching resources to assist healthcare professionals to better understand genetics.
Medics4RareDiseases is a registered charity driving an attitude change towards rare diseases amongst medical students and doctors in training. Equipping medical professionals to confidently manage their undiagnosed and diagnosed patients living with rare conditions.
Don’t be afraid to say ‘I don’t know’ – It is not possible to know about every
rare condition. Patients understand this and value honesty. Be honest about your level of knowledge and demonstrate that you are prepared to learn or ask others for help. This can help build trust and a positive relationship with your patient.
Listen –People with rare conditions often report that they are not listened to or that their concerns are dismissed. People with rare conditions are typically experts in their (or their child’s)
condition and they are best placed to communicate how the condition affects them/their child and what their needs are.
Signpost to support groups – Wherever possible, assist families to access information and support
from condition specific support organisations. Genetic Alliance UK can help you identify support organisations for your patients.
Communicate – Dealing with health and social care professionals can be a daunting experience. Help to build a positive relationship by communicating considerately and clearly; introduce yourself and explain your role in your patients care, avoid using jargon and consider using aids (such as diagrams or online videos) to describe complicated things. People can find appointments overwhelming and stressful, it is important to show empathy and understanding.
Coordinate care – Many patients with a rare condition require complex care from a range of different health professionals. It is in their best interest, and the best interest of those involved in their care, to ensure care is properly coordinated. Wherever possible, coordinate with other care providers and assist patients in obtaining a dedicated care coordinator and do not assume this is a job for someone else to do.
Consider the family – Having a child with a rare condition can significantly affect the lives of other members of the family. Consider the needs of parent carers and siblings in your interactions with the family – ask how they are coping or if there is any support they need. Where appropriate, signpost family members to sources of practical, emotional and financial support.
Genetic Alliance UK are committed to regular review and refresh of the Rare Resources Scotland guides. We are also keen to continue developing new information guides in response to the needs of people living with rare conditions and the organisations and professionals who support them.
Do you have an idea for a new Rare Resource? Do you have feedback on one of our existing Rare Resources Guides that can help improve the information available? Or perhaps you would like to be involved in testing future guides?
Please contact rareresources@geneticalliance.org.uk
Join our alliance of 200+ SUPPORT ORGANISATIONS AND charities