2023 AGM - Diagnostic Odyssey

On Saturday July 22nd Ela Curic gave a presentation to the group about her student voice essay.

Ela began by introducing herself, she is a 5th year medical student in Sydney, Australia, who has included rare diseases and genomic testing in her studies. She entered the Beacon (formerly findacure) and Medics 4 rare diseases student voice competition. Ela's essay was shortlisted in the 2022 competition.

She chose to answer the question on the diagnostic odyssey by comparing and contrasting two different people/rare conditions, and looking at the wellbeing impacts of the diagnosis journey. Ela interviewed me about HSP and Laura, who has Bethlem Myopathy. Ela gave a brief overview of HSP and Bethlem Myopathy, noting that HSP has a prevalence of about 3.6 in 10,000 and Bethlem Myopathy of 0.77 per 10,000. There are about five times as many people with HSP than Bethlem Myopathy.

Rare diseases, by definition, affect less than 5 in 10,000 people. But, there are many rare diseases, meaning they affect around 1 in 16 people, or about 300 million people around the world. Many of these conditions have a genetic basis, and getting a diagnosis can improve the pathway to managing the condition.

The challenge for many is that they cannot get a diagnosis easily, they go through a series of different appointments where they have to explain their situation again, without getting a clear answer. This affects their mental wellbeing.

Overall the diagnosis often takes over five years. The traditional approach for diagnosis is the doctor recognising common symptoms and using their knowledge to identify what has happened. For rare conditions this approach cannot work, leading to a succession of disjointed appointments without progress.

 Ela then went on to consider three different aspects of the diagnosis journey:

Navigation

Often there is no clear route for diagnosis of a rare disease. People often visit 8 different clinics, 4 with their doctor/general practitioner, and 4 with specialists of one kind or another. Given that rare conditions are not well known it is common for people to start with a misdiagnosis, and in that typical journey, there are 3 different misdiagnoses.

For people whose condition affects their mobility they have the added burden of travel between these different clinics, which can be difficult at times. All of these factors - many clinics, misdiagnosis and mobility challenges have negative effects on wellbeing.

However, once a diagnosis is reached there are positive effects. A correct diagnosis means that treatment options, exercises and other measures are done in the knowledge that they are the right things to do, and the diagnosis can open up access to different benefits and services.

Uncertainty 

Rare conditions have additional uncertainties above commonly experienced conditions. Once a diagnosis is reached this can help re-frame the different symptoms and experiences that people have experienced, allowing them to realise reasons why they have felt different.

Diagnosis can also reduce the uncertainty of the future, by being more certain about what is coming in the future, and allowing people to plan for this. Some people will be able to use this in the context of reproductive issues to help them make decisions about having children. Others will use this when deciding on treatments and assessing their progression, although this is often difficult to do and there will still be some uncertainty here.

People with rare conditions often have a lower health related quality of life, and some of this is due to  uncertainty which is independent of their diagnosis.

Connection 

Before people get a diagnosis they often feel disconnected from their usual lives. Getting a diagnosis offers an avenue for them to connect with other people. Connections with people is important. For conditions with support groups, this can be one route to connect with others that are similarly affected. There are also groups of people who do not yet have a diagnosis, which gives another route.

Psychological support during the diagnosis journey, and beyond, is beneficial to all.

What does this all mean?

Ela concluded her essay considering the experiences of the people she interviewed. The role of the diagnosis is not always clear, with different people drawing different aspects from this. The main aspect is that having a diagnosis can help people to understand the impacts of the condition on their lives. For some people the diagnosis helps plan the future, but it is important to realise that many rare conditions do not have treatment options available.

Also, the diagnosis offers routes to connections with others. All of these factors are helpful to peoples wellbeing.