A rare disease affects fewer than 1 in every 2000 people1. However, because there are over 6 thousand known conditions, this means that having a rare disease is anything but rare. Approximately 1 in every 17 people you meet is likely to be living with a rare illness1.
This creates a very challenging problem - although the there are many people experiencing rare diseases in a community, when they go to their Physician, it’s unlikely that the person they see will have seen their condition before. This issue is compounded further by the fact that symptoms for many rare conditions are usually similar to those for the more common conditions that jump to a physician’s mind first.
The ‘Diagnostic Odyssey’ is the term used to describe the long and convoluted journey that people with rare diseases find themselves on between first going to the Doctor and finally getting an accurate diagnosis. It occurs for millions of people across the world every year. In Europe alone, it usually takes more than four years to complete2,3.
What are the ingredients for a rapid diagnosis?
People seeing their Physician early in the disease, having gathered the information the Physicians likely to need, and asking the right questions
Physicians who think of rare diseases as a possible diagnosis from the start, know how to use the diagnostic tools available for areas they’re less familiar with, and who can identify the correct referral pathway quickly
Diagnostic tools that can support doctors when assessing whether rare disease is a possibility, support rapid referral, and test to confirm a speedy diagnosis
Key roles that patient organizations play in banishing the diagnostic odyssey
Patient organizations are powerhouses of experience and support. They are the critical link between the medical/research communities and the families living with the disease.
Although the start of the diagnostic odyssey has been defined as the first visit to a Physician, for patients and their families it actually begins far earlier than this visit. This is critical. Even though many rare diseases do not have treatments available, understanding what’s going on, receiving appropriate support and navigation to therapy, and avoiding misdiagnoses (and thus the incorrect therapy), can make a huge difference to the quality of life for all involved.
Increasing awareness of rare disease
Many members of the general public may not be aware of rare diseases and, as others have stated before “If you don’t know to look for something, you’re unlikely to find it”4. Patient organizations have many links with their surrounding communities as well as excellent out-reach and communication approaches. This means that they are ideally placed to raise awareness of such conditions, and the common experiences people go through, in the general population.
Patient organization’s awareness campaigns are particularly powerful for two main reasons. Firstly, the information shared is insightful, accurate and helpful. Secondly, because of who is backing the campaign. For someone at the start of their odyssey, feeling recognition at the words of others who are like them, use their language, and have been through highs and lows they’re experiencing, can be incredibly impactful and engaging. Realising that they’re not the only ones to have questioned ‘the norm’ is a key and essential step in encouraging others to ask for help quickly. It’s a task that patient organizations can undertake with the most authenticity and relevance.
Sharing stories and experiences
People telling their stories has a unique and powerful role in the rare disease community. Not only does this bring solidarity, but stories can also act as the bridge between the methodological world of clinical science, and the experiential world of patients.
Again, and again rare disease families relate stories of ‘having a hunch’ and asking for advice from those around them, or searching the internet - just to see, ‘am I right?’. Patient advocacy groups have been recording and publicising people’s experiences going through this. For those who don’t engage with general awareness campaigns, the reading, seeing, or hearing about another person’s story that matches so closely with their own can be the perfect call to action7,8. Examples of patients’ stories include Satu Salonen and her experience with autoimmune encephalitis9, and the incredibly moving ‘Alexander’s story’ that documents one families’ journey from initial realisation that something was wrong, to receiving an accurate diagnosis10. Organizations provide guidelines and advice for those wanting to share a story, such as Rare Disease UK and their excellent blog support11.
Digital Symptom clusters
One of the earliest things people usually do is search the internet for help. Having websites and supportive information tagged with optimized key words for the condition’s symptom-clusters has the potential to rapidly empower new patients and target the correct information their way. At the current time, however, swii.ch health report that this tends to be an under-used technique in the fight for early diagnosis.
Patient organizations have the pedigree and links to systematically gather such colloquial language terms. Through collaboration with communication experts, this can be converted into optimisation of sites and support for the undiagnosed communities. Not all sites are optimised equally and simple tweaks to the copy such that the language and symptom clusters truly used by patients on their diagnostic journey can bring people to the right information and potentially the correct diagnosis quicker.
Preparation and education
In addition to awareness campaigns and patients’ stories, patient organizations also play a key role in the education of potential patients and their families. Physicians are only able to act on what they can see, hear, or test for. In rare disease, where symptoms may be vague or match those for more common conditions, taking accurate and informative information to the Physician is a key part of reaching diagnosis. Patient organizations support people in how to keep diaries of symptoms, chart occurrences and list out key questions that they need answering12. They also frequently produce fact sheets and other information to educate patients about different conditions so that they can enter into a discussion with their Physician and share their thoughts in an informed way13, 14.
The relative success of the consultation itself relies on the quality of discourse that occurs between physicians, patients, and carers. Studies have shown that a whole variety of activities can affect patients’ experiences - ranging from how language affects people’s understanding of health and social impacts15, to the effect of rapport-building with vulnerable people16. Three areas in particular often result in tension: first - people having a right to care versus feeling like they deserve care; second - the use of guidance versus control when planning the course of action; and third - the relative use of personalization versus standardization in care pathways17. Again patient groups, with the support of communication experts, have the opportunity to use the wealth of experience within their organizations to help guide such discussions and provide suggestions for optimisation.
Linking people with research
Not everyone will have a rare condition that is easily recognized and, unfortunately, there are still many people who remain in the ‘undiagnosed’ population. Ongoing research is essential to support these people, and for people who endure years before diagnosis because definitive tests do not exist for their condition. However, research itself can only be successful if it can access information from these people with the condition - and for researchers, finding them is a huge challenge.
Patient organizations can navigate people to research that is relevant for them18. Ensuring that people can work together to identify new conditions, create definitive tests, and test potential treatments. In short - it’s the patient organizations who are ideally placed to forge the links needed for future success.
Patient organizations are fundamentally important in the fight for earlier diagnosis and improved outcomes. They can raise awareness, support patients through pre-diagnosis stages, improve communication between patients and their Physicians, and identify links between people and research that drive for a brighter future.
We at swii.ch health believe that with true collaboration between patient organizations, digital and behavioural experts and the very people who access these services, the time to correct diagnosis might just be able to be shortened.
In the next edition of News and Views we’ll be exploring the role of Physicians in the fight for the earlier diagnosis of rare conditions.
1 European Commission – European Commission. (2020). Rare diseases. https://ec.europa.eu/info/research-and-innovation/research-area/health/rare-diseases_en.
2 Rare Disease UK (2019). Illuminating the Rare Reality. London: Genetic Alliance UK. https://www.raredisease.org.uk/wp-content/uploads/sites/7/2019/02/Illuminating-the-rare-reality-2019.pdf
3 Shire. Rare disease impact report: insights from patients and the medical community. 2013. Available from: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
4 Dutton. Massachusetts Biotechnology Council (MassBio). https://www.massbio.org/news/blog/awareness-campaigns-are-vital-in-diagnosing-rare-diseases-149164
5 ‘I am Number 17’. PR Week. https://www.prweek.com/article/1672091/people-rare-diseases-step-forward-awareness-campaign
6 Healthy Debate. How patient stories are re-shaping health care. https://healthydebate.ca/2017/09/topic/patient-centered-care-stories
7 Rare Disease Day. Tell your story. https://www.rarediseaseday.org/tell-your-story
8 Powerful Patients. Why your patient story matters. https://powerfulpatients.org/2016/05/26/why-your-patient-story-matters/
9 Blueprint Genetics. Insights. The diagnostic odyssey of ultra-rare diseases: a patient’s perspective. https://blueprintgenetics.com/resources/ultra-rare-diseases-a-patients-perspective/
10 Alexander’s film. https://vimeo.com/354497021
11 Rare Disease UK. Blog Guidelines. https://www.raredisease.org.uk/our-work/tell-your-rare-disease-story-rare-disease-uk-blog-guidelines/
12 Pinnacle Care. Strategies to help you get the right diagnosis for a rare disease. https://www.pinnaclecare.com/highlights/blog/rare-disease-diagnosis-strategies/
13 Rare Disease UK. Information and support. https://www.raredisease.org.uk/information-and-support-2/
14 National Organization for Rare Disorders. Rare Disease Information. https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/
15 Brummernhenrich & Jucks. 2019. Health Psychology Open. https://doi.org/10.1177%2F2055102919833057
16 Wynn & Carpenter. 2019. Journals of Gerontology. https://doi.org/10.1080/10410236.2019.1663586
17 Peltola. 2019. Health Communication. https://doi.org/10.1080/10410236.2019.1663586
18 National Organization for Rare Disorders. Undiagnosed Rare Disease Patients. https://rarediseases.org/for-patients-and-families/information-resources/patient-and-caregiver-resource-center/undiagnosed-rare-disease-patients/