Thread by @rarediseaseuk

Today @GeneticAll_UK is launching a new report, ‘Good Diagnosis:Improving the experiences of #diagnosis for people living with rare conditions’.

Read the full report geneticalliance.org.uk/gauk-news/news…
#GeneticAllianceUK
#RareDiseaseDay2022
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Over a third of people living with a #RareCondition
will wait for more than five years to obtain a
definitive #diagnosis, often receiving a number of
#misdiagnoses along the way

#RareDiseaseDay2022
#RareDiseaseDay

The ‘diagnostic odyssey’ is a term used to describe the time taken between a patient first developing #symptoms and receiving a correct #MedicalDiagnosis. This can be a long and eventful journey.

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#RareDiseaseDay

The Good Diagnosis report reflects people's experience at three key stages of their #DiagnosisJourney: their search for a #diagnosis, receiving their diagnosis, and following diagnosis.

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#RareDiseaseDay

Our findings have underlined the importance of diagnosis for people living with #RareConditions.
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#RareDiseaseDay2022

Fast and accurate diagnosis can lead to improved medical management, access to care, #treatment and #SupportServices.

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#RareDiseaseDay

It is encouraging that the UK #RareDiseaseFramework has prioritised helping people with a rare condition to get a diagnosis faster.

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#RareDiseaseDay

But a fast #diagnosis is not enough to ensure a
#GoodDiagnosis.

Our findings demonstrate the significant emotional and #MentalHealth impact of the diagnostic odyssey on people with rare conditions and their families

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#RareDiseaseDay2022

A good diagnosis can only be achieved if people with rare conditions have access to good information and feel supported from the beginning of their journey, to the point of their #diagnosis and beyond.

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#RareDiseaseDay2022

@GeneticAll_UK report has identified the key principles of #GoodDiagnosis

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An accurate and timely #diagnosis can mean greater #treatment choice and can support informed decision making, leading to people being able to better manage their #condition.

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Recent years have seen significant investment
and advances in #genomics and #DiagnosticServices
which will go some way to reducing the #DiagnosticOdyssey for people living with rare conditions.

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Participants in the #GoodDiagnosis project highlighted that delays in diagnosis could be avoided if healthcare professionals had improved training and access to information about rare conditions

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Many participants in the Good Diagnosis project described being routinely dismissed, not listened to or not believed by their #HealthcareProfessionals on their journey to diagnosis.
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People with #RareConditions want to be believed when they present with #symptoms.

Language such as ‘fight’, ‘battle’ or ‘#struggle’ is
often used to describe people’s journey to #diagnosis.

#RareDiseaseDay #RareDiseaseDay2022

It is not uncommon for people with #RareConditions to be #misdiagnosed with a mental health condition.

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Good Diagnosis participants who had experienced this reported that these misdiagnoses and the long delay in getting the right diagnosis, ultimately severely impacted their #MentalHealth.

Our findings show that central to a #GoodDiagnosis are #healthcare professionals who are able to #recognise, #identify and #diagnose rare conditions.

#RareDiseaseDay #RareDiseaseDay2022

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.

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@M4RareDiseases have produced ‘#RareDisease101’, a fantastic e-learning platform dedicated to teaching medics the fundamentals of rare disease and help them manage both their# undiagnosed and #diagnosed #patients

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The Good Diagnosis Report recommends developing a central repository (such as an online portal) of information on rare conditions for healthcare professionals.

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Participants in the Good Diagnosis project reported having insufficient information to meet their #medical and non-medical needs throughout their #DiagnosisJourney

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A lack of good quality information and #support can contribute to a person’s feelings of #isolation, poor management of their condition or uninformed #DecisionMaking

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As information on rare conditions is often scarce and difficult to find, it is of even greater importance that people with rare conditions are supported by the #NHS to access the information they need.

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#SupportOrganisations and @GeneticAll_UK member organisations play an integral role in providing high quality support and information to people throughout their diagnostic journey

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Our report highlights the importance of being given the information of relevant support
organisations as early in the diagnosis journey
as possible as this can help people to source
information in their own time, when they feel that
they are ready.

#RareDiseaseDay

Our members @Unique_charity have contributed to the Good Diagnosis Report and described the value of good quality information. #RareDiseaseDay #RareDiseaseDay2022

@Unique_charity has produced many helpful and informative guides for #chromosome and single #GeneDisorders, including over 400 translated guides in 18 different languages.

You can find them here rarechromo.org/disorder-guide…

The diagnosis journey can also have a significant
impact on mental and #EmotionalWellbeing,
yet #MentalHealth services for people with rare
conditions are rarely available, or offered.

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People with a #RareCondition would benefit from having the opportunity to access support for their mental and #EmotionalWellbeing throughout their
diagnosis journey

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The Good Diagnosis Report recommends that people with rare conditions should be given a diagnosis care plan when the begin their journey to diagnosis

The diagnosis journey can be difficult to navigate with multiple appointments, lots of tests and referrals to #SpecialistServices. Trying to coordinate this care, and manage regular daily tasks, when unwell can be very challenging

These challenges can be made easier with the
involvement of a professional care coordinator
who can provide an important role in ensuring that
the right services are brought together at the right
time.

#rarediseaseday #rarediseaseday2022

A #CareCoordinator can liaise between the
different professionals, make appointments and chase up tests and #referrals, helping to reduce the burden on the individuals and ensure that services are used
efficiently.

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A Care Coordinator can ensure that a care plan for
the diagnosis journey is in place and acted upon
and that the individual has a person available to
talk about their concerns to, giving consideration to
the needs of the family or carer
#rarediseaseday #rarediseaseday2022

The Good Diagnosis Report recommends that people living with rare conditions in the UK should be offered access to a care coordinator throughout their journey to diagnosis.

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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 receiving care, treatment and services

Fighting for the right care or treatment can be extremely challenging, particularly when unwell.

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

#RareDiseaseDay

#RareDiseaseDay

A Rare Conditions Good Diagnosis Charter should clearly communicate the standard of care people with rare conditions should expect to receive and be based on the identified Principles of Good Diagnosis identified by the Good Diagnosis project.

It is vital that a good diagnosis is experienced by all people living with a rare condition and we must recognise that people who are from diverse and #MarginalisedCommunities and affected by a rare/#GeneticCondition, often experience further disadvantages.

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Breaking Down Barriers, @BarriersDown, is a network of organisations working together to improve the lives of people from marginalised communities and addressing #HealthInequalities.

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Breaking Down Barriers, @BarriersDown, have contributed to the #GoodDiagnosisReport, highlighting the importance of information, resources,and a workforce that is not representative of our diverse population or reflective of different #cultures and religious beliefs.

#RareDiseaseDay @BarriersDown

We must also acknowledge that not everyone will receive a diagnosis.
Some people may not be able to access the tests necessary to identify their condition, while others may be affected by a condition that is so rare it is yet to be discovered
#rarediseaseday @SWAN_UK

We must ensure that people living without a diagnosis have access to the support that they need. Improving awareness of #rare and #undiagnosed conditions is a necessary step to ensuring #HealthcareProfessionals are equipped to support families.

#rarediseaseday

The findings of our Good Diagnosis Report are important. We must work together between nations to share and generate information, take account of people’s needs while they are on their diagnostic odyssey and when it ends; and work towards a set of standards for a good diagnosis.

Read the Good Diagnosis Report and it’s recommendations in full here - geneticalliance.org.uk/gauk-news/news…