Last Reviewed 1/03/2019
Rare Resources: Scotland is a guide produced by Genetic Alliance UK for families in Scotland who have recently received a diagnosis of a genetic or rare condition, who are on the journey to a diagnosis or families who have been told their child’s condition is so rare they might not get a diagnosis.
The Toolkit contains a wide range of general information on genetic, rare and undiagnosed conditions as well as information on how to access reliable information, care and support in Scotland.
The Toolkit includes the following sections:
- Genetic, rare and undiagnosed conditions explained
- The journey to diagnosis
- Using the NHS in Scotland
- Support and information for parents and carers
- Support and information for your child
- Information directory detailing support services available in Scotland
The Rare Resources Toolkit is available to download from the links above.
The Rare Resources Toolkit has been developed in collaboration with parent carers and health professionals involved in the care of children with a genetic, rare or undiagnosed condition. Here are some ‘top tips’ from them.
Find reliable information and support:
It may be helpful to find information on your child’s condition. For some conditions there may be a support group available. The Rare Resources Toolkit provides information on how to access reliable information and support, even if your child does not have a diagnosis.
Don’t be afraid to ask for help:
Remember it is completely normal to feel overwhelmed from time to time. Don’t be afraid to ask for help if you need it.
Meet other parent carers:
It can be very beneficial to meet others who are experiencing, or have experienced what you are going through. The Rare Resources Toolkit explains how you can find support from other families.
Understand your rights, and the rights of your child:
You may find that you and your child are eligible for practical, emotional and financial support. The Rare Resources Toolkit explains support available to families in Scotland.
Keep a copy of all letters and information relating to your child’s health together. This will ensure you have the important information together and help you keep track of your child’s progress. The Rare Resources Toolkit provides advice on managing your child’s appointments and using the NHS in Scotland.
Further information about genetic, rare or undiagnosed conditions
The Rare Resources Toolkit currently only focusses on services in Scotland, however we are currently developing a similar toolkit for Wales, and have plans to do so for all devolved nations of the UK. If you want to help in the development of Rare Resources: Wales, or have any comments on Rare Resources: Scotland, please get in touch at [email protected]. You can find more information on genetic, rare and undiagnosed conditions at:
Genetic Alliance UK – geneticalliance.org.uk/information
Rare Disease UK – raredisease.org.uk
SWAN UK (syndromes without a name) – undiagnosed.org.uk
Your Genome – yourgenome.org
Contact a Family – contact.org.uk/medical-information/conditions
Orphanet – orphanet.org
Are our Rare Resources missing something? Please contact [email protected].