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Delving deeper into the diagnostic journey

Research

29 February 2024

Did you know there are around three and a half million people in the UK living with a rare disease? But what’s it like getting a diagnosis for, and living with, a disease that few people, even within the medical community, have heard of? These are questions that Dr Stella Johnson from Cardiff University focused on in her recent Masters, and when she needed some help with her study, she knew just where to turn.

Stella became aware of mito in children during her time at medical school, but it wasn’t until she did a placement at Great Ormond Street Hospital that she learned more about its effect on patients of all ages, and the range of problems it can cause. She met families of children diagnosed with mito and was shocked by how little could be done for them, something which later heavily influenced the direction of her dissertation.

She saw the gaps in mitochondrial research and turned to us for help refining her plans. Initially she’d focused on genetic diagnosis, thanks to her training in genetic counselling, but Alison and Katie from the Lily team enlightened her about the difficulties our patients consistently encounter throughout the diagnostic process, and explained that any work in this area would add value in trying to improve the experience.

And because we believe in the importance of the patient voice in research, we were more than happy to connect Stella with a group of patients willing to share their personal stories. She spoke with nine people in the end – men and women, all aged between their 30s and 60s. Some had mito themselves, and others were parents of affected children.

Stella then analysed the interviews to identify common topics, and three main themes emerged – people’s lived experience of mito, their search for a diagnosis, and the impact of receiving that diagnosis. “There was so much people shared with me,” Stella explains, “but these were the biggest areas talked about. They also link back to the little that has already been written about mito experiences.”

Lived experience of mito

Fatigue was a major chronic symptom for many and was associated with what Stella termed a ‘fatigue crisis’. That’s where a trigger causing stress on the body, such as illness or excessive activity, sent people into a crisis where they experienced loss of cognitive ability, loss of physical ability and loss of self-esteem.

Several participants described fatigue in mito as a ‘hidden disability’ and something that was difficult to get support for due to others not necessarily noticing or understanding its effects. Participants also described health, social, educational, professional and financial losses as a result of their illness.

“And although there were these similarities in experiences,” Stella continues, “each participant described a unique experience of mito and that made living with the illness even harder and more isolating.”

Searching for a diagnosis

This is where Stella’s findings become really shocking. After symptoms started, participants reported searching for a diagnosis for between six months and 35 years. “The average time for people to get a diagnosis was 12 years,” says Stella. “It’s unbearable for the process to take this long, especially when someone’s actively searching. One of the scariest things according to one patient was knowing something was wrong but not knowing what it was.”

Most concerning for Stella, the patients she interviewed spoke of encountering resistance in healthcare professionals. “That clearly stems from a lack of knowledge or a lack of understanding,” she says. “That’s medics who didn’t know about mito or just didn’t consider it a possibility. There’s an old adage that if you don’t think of something, you can’t diagnose it. Which makes perfect sense as I believe this was the case for a lot of people.”

“The Good Diagnosis report came out whilst I was doing my research,” she continues, “and they’d said an average of three to five years so I was surprised that the stats I uncovered were even longer, especially for a more ‘common’ rare disease.”

Living with undiagnosed symptoms added an extra layer of difficulty on top of dealing with the symptoms themselves. Limited knowledge of mito in healthcare professionals and dismissal of symptoms were problems before and after diagnosis. Even after diagnosis participants sometimes described feeling a pressure to ‘prove there was something physically wrong’ when they were experiencing a complication of mito.The average time for people to get a diagnosis was 12 years. It’s unbearable for the process to take this long, especially when someone’s actively searching. One of the scariest things according to one patient was knowing something was wrong but not knowing what it was.”

This dismissal was worse where psychological illness co-existed or was suspected in a patient with their other symptoms, suggesting that there’s still work to do in the healthcare community to eliminate the stigma around mental illness, and recognise the close links that often occur between mental and physical illness.

Stella’s worked in different areas of healthcare and therefore understands the challenges healthcare providers face in seeking to provide an accurate diagnosis and address patient symptoms. However what she uncovered made her feel at times both angry and disappointed, particularly on those occasions when patients felt dismissed or doubted. “This had a profound psychological effect throughout their life,” she explains. “We have a collective responsibility to do better.”

“And then there’s the issue of actually diagnosing it,” she continues. “There’s another saying in rare disease circles, ‘If you hear hoofbeats, think horses, not zebras’. The majority of the time you think of common conditions in healthcare – a psychosomatic diagnosis, or a common condition with an uncommon extra symptom, for example, is still in most cases more likely than a rare disorder.

“But the possibility of rare disease still needs to be considered: as one participant said, professionals need to ‘think zebras as well’. Professionals also need to know how to diagnose rare diseases in people who have them. Some participants had even been previously told they couldn’t possibly have mito, based on a lack of knowledge from a professional about how to diagnose it, before they eventually got the correct diagnosis.”

The impact of receiving a diagnosis

Overall participants felt it was better to have the correct diagnosis, but this didn’t take away the difficulties of living with mito, or the challenges around getting support. The diagnosis had personal and family implications because of being a genetic condition, and although it did generally improve the care people received, most participants still felt there were issues around their healthcare that couldn’t be entirely explained by lack of treatment or knowledge.

“Participants felt they had unmet information and support needs,“ Stella says, “which is understandable. To be told you have a disease that very little is known about, and then to not be signposted to people in the same position, is really hard.” Patients and parents felt they often had to ‘fight’ for practical support before and after diagnosis, something which one parent described as ‘exhausting’.

Participants also felt that they were rarely seen as a ‘whole person’ because of the way that healthcare separates people’s care by systems of the body, although those who had been seen at one of the Rare Mitochondrial Disorders Services in London, Newcastle or Oxford did feel that their care was less disjointed.

A lot of what Lily are already doing around support, during and after the diagnostic journey, is crucial. Your Facebook groups were something everyone talked about. They were all really happy to have that community they could turn to.”

And Stella was alarmed by the lack of counselling and psychological support available. “I know there’s a lot of strain on NHS mental health services, but after months or more often years on a waiting list, people were eventually seeing a counsellor who’d never heard of mito, or who knew very little about rare diseases. It was difficult for patients to find professionals who understood.”

For that reason Stella’s delighted to hear about our new partnership with specialist rare disease counsellors Rareminds, and feels that ticks a huge box. “A lot of what Lily are already doing around support, during and after the diagnostic journey, is crucial. Your Facebook groups were something everyone talked about. They were all really happy to have that community they could turn to.”

And finally, on more than one occasion participants unfavourably compared the issues with diagnosis and care of mito with other life-changing conditions such as cancer. “That emphasises how much improvement they felt there needs to be in dealing with mito,” continues Stella, “which again all comes down to lack of knowledge and lack of understanding.”

What does the future hold?

It’s clear from our patients’ stories that there’s much to improve on when it comes to diagnosing mito. “At the moment,” Stella says, “it’s such a long and convoluted process. ‘The diagnostic odyssey’ is a phrase I’ve heard in other research but it’s accurate – it’s long and it’s challenging. Muscle biopsies are not pleasant so if there are ways of doing fewer, and hopefully having a faster and more streamlined approach, that would make the process more bearable.”

And she’s also hopeful for the future landscape around mitochondrial research. “Obviously it would be lovely to see treatments. I know how long medications take to develop but I also know AI is having a good impact in other areas of healthcare so if that can help it would be amazing.”

Stella’s grateful for the contributions our mito community made to her project, and for our help in recruiting them. “I could never have reached such a range of people without Lily’s help,” she says. “Everyone was lovely, so generous with their time, and they really opened up about their experiences.”

The process ended up being almost as emotional for Stella as for the people she spoke with. “I got pretty angry on their behalf about what they’d experienced,” she admits. “But it was also inspiring and puts things into perspective. It’s special when someone wants to share their story, especially when it’s a hard story to tell.

“We can’t do this kind of research without people who are willing to talk about their feelings,” she continues, “so I’m very grateful for what they shared. I’d also like to thank my dissertation supervisor, Dr Rebecca Dimond, who was incredibly supportive of my work.”

And we’d like to thank Stella for all the time and effort she’s put into this project. What she’s uncovered reinforces the need for investment in research. Research like our Precision Diagnostics project, which aims to improve diagnostic rates for complex cases of mitochondrial disease.

The Lily Foundation will continue to invest in research like this until there’s a standardised care pathway for everyone with mito, and no one has to face the disease alone.

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