Natalie Frankish: From a Diagnostic Odyssey to a Good Diagnosis

Image Courtesy of Natalie Frankish & Genetics Alliance UK

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Natalie: It's often very difficult. So I think it's probably best to say from the outset that everybody's journey is probably a little bit different. How people end up getting to their diagnosis can be very different depending on the healthcare professionals they encounter and the routes that they go down and the conditions that they have.

Natalie: But we do see quite a lot of common challenges I think affecting the community. So delays in the diagnosis is probably the most important thing here to mention. We hear quite often about how people spend a lot of time trying to get themselves referred to a correct specialist or perhaps for a genetic test, or even just to be believed by their GP in the first instance.

Natalie: The statistic, I think, from our most recent patient experiences report was that there was over a third of people living with a rare condition who will wait more than five years to obtain a diagnosis, and that was certainly something that came out most recently in our recent Good Diagnosis Report. We asked some families to get together and take part in some workshops and tell us about their experience of their journey to diagnosis.

Kat: I can imagine this diagnostic odyssey, as we call it, taking years and years, going through endless tests and referrals to get a diagnosis, must have quite a big impact on families. How does it affect them in your experience?

Natalie: Yeah, absolutely. I mean, I think for one thing, the uncertainty about what condition may be, what it might mean for the family, what that means in terms of for a child, for example. Does that mean that they will be able to go to school, live a long life?

Natalie: All these questions come to mind when you're not sure about a condition and what its prognosis may be. But also down to things like family planning decisions, managing day-to-day care. What does it mean for the family in terms of how they live their lives, does somebody have to stop working to look after a person in their family with a rare condition?

Natalie: All these things have an impact, and the longer it takes to get a diagnosis and to get those answers, even if those answers aren't definite, but are even sending you into a bit of a ballpark, that could take a real toll on a family. And we heard a lot of experiences coming through in our Good Diagnosis work about the impact on mental health, so people feeling anxious, people having a lot of symptoms of depression as well, as a result of just having something so big weighing on their mind and not knowing really what was going to happen in the future.

Kat: So you've mentioned your Good Diagnosis Report, from that and the work that you do, what does a good diagnosis for a rare disease actually look like? What should happen?

Natalie: That's a very good question, and I think there's probably no such thing as a perfect "good diagnosis". These things are always very difficult for a family, and a very sensitive time for people to go through.

Natalie: There's elements that make a diagnosis better, and that's something that we identified in the report. So we had eight key elements that was that a good diagnosis should be timely and accurate, so getting to a good diagnosis as quick as we possibly can, trying to avoid many misdiagnoses along the way if possible

Natalie: A good diagnosis is also informed and supported, so that means good quality information right from the get-go. What does a person expect on that journey to diagnosis? What will their appointments look like? How do they expect healthcare professionals to keep in contact with them and share results?

Natalie: And then when a diagnosis does happen, or even in a case where perhaps it's likely that the person will have no diagnosis or remain undiagnosed for some time, it's about the information and support that's available at that time too. So do we signpost to a charity that can support a person for a particular condition, or do we make sure that they're getting some support for their mental health at that time?

Natalie: We also say in the report that there needs to be a good deal of collaboration, so working with the person or the family going through that journey to diagnosis, to understand what their needs are. What do they want from the experience, what kind of information do they need, is there any particular practical things that they need to help support them and their family?

Natalie: And that means different departments talking to each other, healthcare professionals working together, and where possible there being some sort of care coordinator in place to help support the person through that journey. So making sure that their appointments are managed as closely together as they can. Or if things could be done in the same day, then that's possible too. So that kind of administrative part, I guess.

Natalie: But also making sure that they're accessing the care and support that they need and getting the information that they need as well.

Natalie: The other final two parts of the good diagnosis key elements is about being respected and acknowledged. And so that's once a diagnosis has been made, making sure that the person is getting the right access to advice or support or services that they need, but is also recognised by other healthcare professionals involved in their care. So having GPs who then understand what that diagnosis is, who take a little bit of time to get to know what that condition is so they can help their patients better.

Natalie: And also being able to recognise what perhaps a person has gone through on their journey to get to that diagnosis as well. Just being able to reflect on the needs of the patient.

Kat: This all sounds incredibly important, incredibly urgent, and I'm sure for patients and their families, something that's desperately needed, but clearly then isn't really happening all the time right now.

Kat: So what does need to happen to actually make more diagnoses or maybe all diagnoses like this?

Natalie: So really there needs to be a little bit of a change in the way healthcare professionals look towards rare conditions. Sometimes what we heard amongst our participants on our project was a tendency amongst healthcare professionals to suspect unusual symptoms in individuals, often being the result of an unusual presentation of a common condition rather than thinking this might be something rare. And in some cases, not listening to the patient when perhaps they've done a little bit of research and identified something that they think they may have that is a rare condition. So we think that there needs to be a greater awareness and an access to better information on rare conditions for clinicians. So better training.

Natalie: Better access to information for those who are currently delivering healthcare services as well. Because with that, clinicians are more likely to be able to identify when it's not the case that this is a usual condition presenting in an unusual way, but in fact that the individual has a rare condition.

Kat: I guess you don't want to get into a situation where everyone's got like Dr. Google and they're saying, "Oh, I think I've got this, I think it's that!"

Natalie: Absolutely. I think one of the things that was really important it came out of the work that we did. So with our workshops patients or people with lived experience of a rare condition were telling us, actually they were quite happy for their healthcare professional to say, "This might be a rare condition, I don't know enough about it." Or when a person's been diagnosed with a rare condition saying, "Oh wow, I've never heard of this before, I don't know anything about it!"

Natalie: They were quite happy for people to be very honest with them about it. And when we shared that information with healthcare professionals as part of the project, that seemed to surprise them a little bit, that actually they should feel confident to say, "I don't know about this” or, "I haven't heard of this condition before."

Natalie: What matters to the people with lived experience in the research in our project is that those healthcare professionals then say, "We'll work with you to find the information. We'll look to see what we can find in terms of it being reliable information on the condition itself". Or accessing and signposting to the appropriate support organisations, or most importantly, making referrals to the services where experts exist to help that person.

Natalie: So I think the acceptance is there that yes, it's very difficult to know about all rare conditions, but it's not difficult to know about rare conditions as a kind of collective, and we need to have some better awareness about how healthcare professionals can support their patients when they do present with one.

Kat: That’s Natalie Frankish, from Genetic Alliance UK.