What is the 'diagnostic odyssey'?

A report by Rare Diseases UK and Shire Health1 found that it takes patients on average six years from noticing symptoms to being correctly diagnosed. It involves, on average, trips to eight doctors.


When I started at GeneAdviser, I kept hearing the term ‘diagnostic odyssey’. New to the field of rare diseases, I didn’t appreciate the years of struggle and frustration wrapped up in that little phrase.

But these numbers still don’t tell you the real impact this has on patients: of the seemingly endless hospital visits, unexplained illnesses and in some cases outright dismissal by medical professionals who can’t find answers.

When you consider that 1 in 17 people, or nearly 6% of the population, will be affected by a rare disease at some point in their lives, I’m amazed that I’ve not heard more until now. Here, I’ve brought together a few of the stories that helped me to understand what it means to have a rare disease, and especially what it means to struggle to find a diagnosis.


The 'diagnostic odyssey' can leave patients feeling lost and confused in the maze of the health system. (Credit: Adam Heath, Flickr, CC BY-SA 2.0)




Matt Might – Parents turn to data after son is diagnosed with rare disease


Matt Might founded NGLY1.org to support and advocate for people with N-Glycanase Disorder after his son was diagnosed. At first, he was told that his son was the only one with the condition, and that there was nothing to be done.

In this talk at Stanford, he talks about how he used his son's diagnosis to build a community. Once his son’s condition had a name, he could find other children with the same condition and start to explore treatment options. Watch his talk at Stanford Medicine's Scope blog.

Matt’s also coming here to Cambridge in September, to speak at the Cambridge Rare Disease Summit.



Yoni Maisel – The psychology of the rare disease diagnostic odyssey


Yoni Maisel writes powerfully about his personal journey to diagnosis with not one, but two rare diseases: CVID and Sweet's Syndrome.

After a decade of frequent hospital visits and inexplicable symptoms, he says he wept with relief on finding that his condition was real and had a name, especially given that friends and family had started to dismiss his illness as hypochondria.

Read Yoni's story on his blog. He’s also very active on Twitter: @Primary_Immune1



The Rare Lives project


The Rare Lives project is travelling across Europe documenting the day-to-day lives of people living with rare diseases.

Through photos and short stories, they’ve put a face to the statistics and anonymised surveys I’ve been reading about rare diseases.

I found out about the project via a story by Benny Wallington on Medium.

And you can see all the gorgeous photos and stories at the Rare Lives Project website.


1 Rare Disease Impact Report: Insights from patients and the medical community, Shire HGT and Genetic Alliance UK.


Posted by: Tamzin Byrne on 28 July 2015