What is the diagnostic odyssey?
1A tortuous journey
In Odyssey, the ancient Greek poem written by Homer, the hero Odysseus makes a long journey home after the Trojan war; a journey beset with difficulties.
Much like Odysseus, many people with rare conditions face a long and challenging journey of their own on the road to diagnosis. For this reason, this collective experience is often referred to as the ‘diagnostic odyssey’.
The average diagnostic odyssey lasts more than five years, during which time people navigate a confusing and wearying maze of appointments, investigations and medical opinions.
2Why the delay?
There are more than 7,000 rare diseases, but each one affects fewer than one-in-2,000 people. This, together with the fact that these conditions are often not emphasised in healthcare training, and that their symptoms can overlap with more common conditions, means that they are often not accurately diagnosed.
Many rare conditions affect multiple body systems, but siloed specialist care may mean that no one professional considers the whole picture. People can find themselves bouncing between specialists, undergoing a range of investigations and trials of treatment. Many people report that their diagnostic odyssey came to an end when just one professional listened to their story from beginning to end.
Around 80% of rare conditions arise due to changes to a person’s DNA. For people with these genomic rare conditions, genomic testing can sometimes identify an underlying diagnosis, but it can also yield negative or inconclusive results. Genomic testing will not aid in the diagnosis of non-genomic conditions.
The diagram below explores what we mean when we talk about the diagnostic odyssey.
3Navigating uncertainty
Unfortunately, uncertainly is a reality for many people with a rare condition, as well as for the professionals who care for them.
Reaching a diagnosis can take time, and may sometimes not be possible. Living with ongoing uncertainty can affect relationships leading to isolation and a loss of confidence. Affected people may experience stigma or have their illness doubted, especially if there are no visible symptoms. The time spent seeking answers often also disrupts work or education, and can result in missed opportunities and financial strain. While a diagnosis can bring some answers for people living with rare conditions, many of these challenges continue long after a diagnosis is made.
Take a look at the image below and see our other resource, 'Mental health and rare disease', to learn more.
4Holistic support
Supporting an individual or family through the diagnostic odyssey is about more than managing physical symptoms. It is about truly understanding and believing the lived experience.
Nobody can be expected to be an expert in every rare condition, but you can work with your patients to identify and access appropriate support. The pursuit of a diagnosis is hugely important as it can open up options for additional support and provide people with the language they need to communicate their experiences. But a diagnosis is not the end of a rare disease journey, and for many people a diagnosis is not a reality.
Patient advocacy groups (PAGs) are vital in supporting people who are living through the diagnostic odyssey. Watch this video from SWAN UK (Syndromes Without a Name) to understand more. You can also explore the considerations of caring for people with a rare condition on GeNotes and access more information at our rare disease education hub.
5Summary points
- The diagnostic odyssey is the long journey to diagnosis that many people with rare conditions face.
- The average diagnostic odyssey lasts over five years but many people never receive an accurate diagnosis.
- The search for a diagnosis impacts mental health, family life, relationships, education and career opportunities.
- It only takes one person to "think rare" and identify when a person could be experiencing the diagnostic odyssey.
- Holistic support, beyond the search for a diagnosis, is vital for anyone experiencing the diagnostic odyssey.
6Learn more
Do you want to discover more about the application of genomics in rare disease? Why not try one of our resources:
