To coincide with Rare Disease Day 2022, Genetic Alliance UK is launching a new report, ‘Good Diagnosis: Improving the experiences of diagnosis for people living with rare conditions’.
Read the full report here.
The experience of diagnosis is, at its essence, a very personal and individual experience. There is no one right way to pursue or receive a diagnosis, what works for one person may not be appropriate for another. However, our report identified some guiding principles.
Our findings show that central to a good diagnosis are healthcare professionals who recognise and are aware of rare conditions. Of course no healthcare professional can be aware of all rare conditions individually, but ignorance of rare conditions generally leads to slower referral, slower diagnosis, misdiagnoses and slower access to appropriate specialised care.
We must urgently take steps to raise awareness of rare conditions among healthcare professionals and to provide them with the information and resources required to support their patients.
Having insufficient information to meet their medical and non-medical needs can contribute to feelings of isolation, poor management of their condition or uninformed decision making. Too often people are left to research their own symptoms, or diagnosis, and this can lead to people finding unreliable, potentially alarming information which they have to digest without the support of a person who understands the condition.
Throughout the diagnosis journey, individuals and families need to be made aware of available reliable sources of information that they may want to use to research their condition or access support and information.
People living with rare conditions describe feeling frustrated at poor communication about their care and the ‘battle’ and ‘struggle’ to get referred for tests, or for assessment at specialist centers. Even once a diagnosis is made, it may not be the end of the struggle. When an individual has a diagnosis of a rare condition that their principal healthcare professional does not know a lot about, they may continue to experience delays in being started on the correct care or treatment pathway, they may experience delays in accessing appropriate services, medicines or research.
Having to fight for the right care or treatment can be extremely challenging, particularly when unwell. The fight can be harder when a person is unsure about what rights they have, or who can support them. It is vital that people with rare conditions are aware of what to expect from the diagnosis journey, aware of their rights and how they can challenge decisions.
The Good Diagnosis report recommends that a Rare Conditions Good Diagnosis Patient Rights Charter should be developed to clearly communicate the standard of care people with rare conditions should expect to receive.
Genetic Alliance UK will undertake a new project in early 2022 to develop a Good Diagnosis Patient Rights Charter, and we want to hear your views on what it should look like.
Interested in getting involved? Email natalie@geneticalliance.org.uk.
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