Signalise: a Dazzle4Rare Podcast

Hi, I'm your host. Kimberly Thomas Tague and you're listening to Signalise a Dazzle for rare

podcast. Whether you're a patient, advocate, caregiver or clinician, Signalise as your

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On today's episode of Signalise, a dazzle for our podcast, we're joined by Doctor Sondra Butterworth, PhD. Sandra is a community health psychologist and so much more since discovering she was a carrier for a rare gene, she began to examine the patient journey and how patient narratives can impact the diagnosis.

Journey through her work with Raquel, they released whose voice
is it anyway? It was a rare community networking campaign. She's

collaborated with medics for rare disease and participated in
many rare disease consultations and other collaborative projects.

So nice to be here. Thank you very much for the invitation. Yeah, I'm Sondra Butterworth and I actually live in north.

Wales and at the moment when I was coming down to the office because the office
is just a few minutes walk from my house, I was walking to the freezing cold but I

was just thinking it's such a nice sunny day and I'm coming to do something really
nice. So I'm in a very good mood. So thank you very much for inviting me, Kimberly.

I know you a little bit now as people will have heard and I think a lot of folks in the rare disease communities here in the UK.

The sort of greater area know you, but for folks who might be listening from the US or folks who for whatever reason, have not yet spoken to you.

Can you tell us a little?

Bit about what you do, I'm from a rare disease family and I'm a carrier for rare disease.

And I'm the founder of Raquil or rare quality of life, which is a small social enterprise based in North Wales.

As I said, and Raquel came about because of my I was studying for a pH. D. And it was based around trying to have a.

To more academic, I suppose understanding of rare diseases and growing up in in the US, being a person of colour or black woman seeing the health and social care sector from the family perspective, finding that we.

We weren't always able to get the right diagnosis or treatment or people. There was a lack of understanding from myself.

In how to navigate the systems if you like, but I started out as a nurse. To be perfectly honest.

And then I wanted to become a teacher and a psychologist. So I took a degree in psychology and I thought I would transfer from being a nurse to a clinical psychologist.

But then I felt I wanted to work in a community based setting. I wanted to do a PhD in Community psychology, but that doesn't exist.

List so any psychologists and academics out there please do one. It would, so I did a PhD in health and social care, but because my

masters and my ordinary degree was in psychology, I was able to combine all those into what I do now, which is Community psychology.

So bringing all that together then I was doing my PhD and in that it was focusing on rare conditions, but specifically on rare genetic skin conditions to start with and then it broadened out to looking at people living.

With rare conditions, but skin and connective tissue disorders and things, and one of the things that I was doing was trying to find a unique way of telling the story.

So I wanted to be able to do mixed methods research and that's what I did.

With this so.

It was based on getting the quantitative data so you know questionnaires.

So on and the stories from people living with rare conditions and what I did was I used a method known as triangulation where you.

Get all different types of of evidence together and then you find the common point to be able to to come to a conclusion.

Or a suggestion about a way forward and so on.

So towards the end of my PhD I was coming to the conclusion that there are a lot of people who had had very difficult diagnostic journeys.

They weren't being listened to for various different reasons. Some because they felt that they

because of their gender because they were women. A hysterical woman go away. You've got EDS.

You haven't got EDS, it's.

You know that type of thing and some of the women's stories were quite devastating really. Some of them had very visual differences and then they were stigmatised because of that. And so on and so forth.

And then I put those stories together with the the quantitative data set to be able to come to a conclusion.

And the conclusion I came towards the end of my PhD was that I need to do something which is where Raquel.

Came about so trying to improve the quality of life for people with rare diseases. How can we do this in a way that's meaningful to the patients? That's led by the people that's from the grassroots from diverse communities, because rare disease.

Which doesn't seem to belong to the rare disease community it belongs to the people who make money from the rare disease community from the far sorry guys, but that's the reality. The farmer academics who get so much money for funding for research, et cetera, et cetera.

And I just felt the narrative needs to change I.

Get asked a lot.

Will you help us Sondra with our research? Will you help us Sondra so we can get more funding to go and do more research on stuff to do with you?

Sondra, can you come to London to speak to these people to do this? Ohh and we'll give you a £20.00 gift voucher for your trouble. Thank you very much, but no thanks.

So what and? I found that a lot of people within the rare disease?

Communities are being asked the same thing, but then when we want to try to do the research ourselves or to be involved more, we haven't got the funds.

We haven't got the resources. We can't apply for the funds and so I just feel as though it's time for change. Guys come on.

So I just want rare qual to become a charity. Yeah, yeah, hopefully in the new year, but I want it to be something that we can we can. We're in the driving seat, those of us who have rare conditions. We've got stuff to say.

We've got stuff to say. You need to listen to us. Our diagnostic journey is our lived experience and we're experts in that.

Listen to us, but The thing is, it's happening. People are listening because now researchers and clinical people who design clinical trials, et cetera. They're being told that they have to include.

It's it's like.

And I had to I tittered away I tittered away when I saw the change and I was contacted by 1 organisation actually and it.

This is where leading to a deer. I was contacted by an organisation in another country. Actually they Googled inclusive research and we came up yay.

She was very, very honest. Enough to say that they were scientific researchers and they they had to look at how to include patients. They've nearly finished the funding.

Location and then they realised that the section where it says include the patient Anthony and he was honest enough to say The thing is, we don't really deal with whole people.

We only deal with bits of people. We only deal with blood samples and tissues and bone samples and test tubes, et cetera. So we don't really know.

Although within the rare disease space, doing research with or on rare disease patients, we don't really communicate with whole people.

You know?

And if I can interject for a second, that really makes me think about healthcare as a whole, because

as a patient or as a human being 1st and then a patient and then all the other things that we are in.

Lives when we go in. We're looked at as a file. We're not really a person. We're looked at as a set of test results.

You know, we might be looked at by a specialty, so our brain might be looked at, or our lungs or other organs, but there are very few times in which we're put together into an entire person.

And looked at through our throughout our variety of experiences so and it's also interesting about the trials because I kind of came from that space fairly recently and listening to conversations about how.

In the US, researchers are now that's part of their mandate is really to include this information, and folks don't know how.

And so they're.

Looking around literally like looking on the Internet, looking anywhere they can to find folks who have the experience to help lead them. Because now this is becoming more of a priority. It is in the United States.

And we're seeing it, I think start to become more of a priority.

Here in the UK.

So even the BMJ is saying, you know you've gotta put a statement in your in your articles if you're gonna submit a paper about how you've included people.

People, whole people, not bits in the research and I think it's freaking people out because it's like oh God, we gotta start.

We've gotta start, including people, so this is where the rare qual is developed into the Adira project, which is something that we're going to be doing more of. The idea is that when I was doing the.

Uh, finishing off my PhD, thinking about what next and all this sort of thing. It was ironic because it was around the same time as the rare disease framework came out, and one of the key themes, the underpinning themes. There's a few underpinning themes and one theme that's.

To pushed out at me based on what I've just said is the voices of people with rare conditions. When people are making decisions about our services that are affect us and so on. And at first I thought this is brilliant finally, but it seems to be a rhetoric.

And then it's like I don't see as much evidence of the authentic voices that are being heard. I see interpretation.

Of peoples voices. So you get people who haven't got rare conditions or people who are not diverse or from you know or and served, et cetera. They may be consulted upon and then someone else who's not from that community then interprets their story.

And then you get it gets lost in translation in my opinion.

Part of me also wonders if what they're doing is sort of looking at these sort of isolated patient narratives and compositing. In their mind, what the idea.

Well patient for the trial would be the ideal candidate would be and I don't know with any certainty and so I would always love to have someone come on and challenge some of that at my assumption that are we really getting unfiltered stories?

Are we really getting unfiltered histories, or are we sort of getting? In some cases composites from different medical records of people with the same condition?

Or other ways of of looking at the.

Patient, I agree. I mean, one of the things that I love this this whole that Arthur Frank.

Have you heard of the wounded storyteller? Cause I?

Feel as though.

That's what a lot of us are those of.

With you know long time felt of quite a few long term health conditions. But I look fabulous so nobody knows you know as you do could be live here on.

Today, but without when bodies have voices, which which sort of goes back to what I was saying earlier about the person who contacted us, and you know. And saying well, we don't deal with whole people.

We deal with bits of bodies, but you know that that body belongs to a person and that person has a voice, and that voice allows people to talk not just about their illness, but through their illness. Through the experience of their illness. And I think it's an important thing and so.

The next stage of my journey to a post doctoral world or whatever is to try to build a strong basis for mixed methodology in the rare disease space. It's hard to do mixed methods because you gotta know about qualitative and quantitative.

And I don't know.

Anybody any other diverse people who don't mix methodologies in the way?

I do, I don't know please.

Tell me if you have.

There would be great to hook up let as they.

Say how would they say in America? OK, yeah.

Yeah we do. We say yeah not in a sexy way though. We just use it as a blanket term in America I think.

Just, you know, let's hook up, but not like let's hook up. Wink, Wink, nudge, nudge.

OK.

But like I I.

Would agree, so I'm going to 2nd that there is anybody in the audience listening this particular podcast, and I think a lot of what we do in our communities is collaborative, and so we are looking for folks who have the missing pieces of the expertise.

So you know with you and I and with other folks in our groups, we all have unique skill sets. We all have unique talents. We've all come from not only different industries.

Absolutely yeah.

You know, so sales, marketing, different types of media creation, medical backgrounds and also we bring with us our experience as patients or as carriers and so like you mentioned earlier, being a carrier of a gene that's kind of going slightly off topic. But is that something that you can?

Can you feel comfortable talking more about?

It I didn't even know I was, and a lot of that. My sisters got sarcoidosis and my brothers had non Hodgkin's lymphoma and my nephews got a rare heart condition and a learning disability and we've all carriers of balacet.

There and it just goes on the amount.

Different diabetes and kidney failure. And there's there's that smell I've grassmere as well, so there's lots of things that we have that overlap with each other.

So yeah, I think with the with the carrier I didn't really know. It was as I was older and I was.

Doing just getting cheque UPS.

It was just found by mistake and it was interesting because when my daughter was having a children and a baby and everything and that's when it hit me, I thought ohh if she's a carrier as well and her partner is.

And the the consequence of that could be quite serious. So you know, I I used to say I'm on a carrier, but then that was a reality that hit me about it and it took me back to some of the women.

Who had interviewed for the pH for my pH, D and one woman was saying the guilt that she felt cause her she lost her daughter?

UM and the guilt that.

Felt about her daughter. She felt that she'd given her daughter this rare condition and it was her fault that her daughter died.

Oh my gosh.

And you know what I mean and and.

You just feel.

Like I had a sense of it, I had a sense of.

It then so.

There are quite a lot of people who are just carriers it and I'd like to say don't, just don't.

They just because there's yes, you know, I don't really have symptoms or anything, but anaemic or anything, but you know, there are people who are carriers but the consequence.

And for them is still quite important and everything, but what was interesting, I had to go to hospital in the middle of COVID I was ill and they said, you know, you've got thalassemia and they got very like concerned for me and they said all we'll have to do is sickle cell test and I said no. I said that they're not. They're they're not the same.

Condition, but these are people in the health profession who didn't know, and this was just after they've. They've been quite a few things.

We won't diverge into it, but there's quite a few things in the paper about sickle cell and and everything as.

Well, and I started really I had.

To reassure them, I have the different the different stop, everybody stop, it's fine.

It's fine, I haven't got sickle cell.

I'm sure you know that what you.

Say there brings up a really important point.

Is that a lot of the time? Whatever, wherever we are in our individual genetic journey, it sounds weird to say that.

But when we encounter healthcare professionals, we're educating them a lot of.

The time, yes, that was one of the themes from my my study.

It's generally I know that anyway, yeah, but that's taking us back then to the the wounded storyteller, because the idea is that.

The patients will have their lived experience, you know, they they have this diagnostic journey that sometimes goes on for 12310 plus years.

So in that time the patients or we people have collected a lot of data and is having an understanding that research.

Isn't just about facts and figures and test tubes and clinical settings. So what I'm trying to think of is advocating if you design in study for example.

Yes, you have to have the clinical outputs and you have to have the clinical endpoints of drug trial or whatever.

But then there's the other endpoint and the other the story of the patient before they started that therapy. During that drug therapy, whatever and then after.

Because all that gives a holistic picture. So what I did with with my research continuing to do it now, to be honest, is if you had a lot of statistics and you had a lot of numbers and then you can look at all the numbers.

And then they analyse they say oh this one and 1 = 2 oh that that equals two and you can see patterns in the numbers and those patterns in the numbers will tell people how well or not well the person is depending on their blood pressure and so there's patterns in the numbers that give the medical profession.

An overview as to how that.

Body is behaving.

So I came from the US and I lived the 1st 30 years of my life.

In the United States and one of the things I always marvel at here is when I would go to my GP in the US.

They would start every appointment with a nurse practitioner who would take down data points so they would take down my blood pressure every time they would take down my height. My weight at cheque recheck all of my medications and do all this.

Kind of like due diligence, really before you ever see the GP.

And so after overtime it was like they were charting it. And so after overtime my GP would say well for this many appointments you've had a blood pressure of XYZ, or for this many appointments you've had an elevated heart rate and so I was able to discover, well, you know, in in my 20s that I was tachycardic all the time and I was not and it wasn't just because I was. It was like a white coat.

Syndrome it was I was constantly tachycardic.

But when I came from the US to the UK, it took another several years to diagnose pots, which is possible with the OR the static tachycardia syndrome.

So I knew in my 20s, but now I'm in my 40s and it took that long for a common diagnosis.

So it's really interesting how when you go to the GP here, you don't go through those those data points and.

That I've never experienced that at my GP. I don't know if it is different in different trusts, but I've never had my my blood pressure taken each time.

I've never been weighed each time I've never been asked, or are all my medications accurate? I've never been asked.

Am I taking anything new? I've never been asked if there's been changes to my my eating. How am I eating more? Am I eating less?

I've never been asked about psychological factors and so to me that that data point those data points and that data plotting could really help our NHS predict.

Yeah, I think you know, having patients as partners in the diagnostic journey is important to see, and if you you've got all the data points in terms of.

Miracle data points. But if you think of are you familiar, like with like narrative based medicine where you you've taken the patients story, so you've got qualitative data?

So if you for example you you have the like 20 year difference gap between when you first had symptoms to when you're acting.

Got the final diagnosis so.

You've got a story you hold.

All that data in your narrative.

Live in in the words that you say so the way that I've done the the the qualitative analysis is that interviewing the people who took part.

For example, I'm doing it currently with with the other studies at Swansea University and things like that. So you've got imagine you've got thousands of words on a page. OK, that you've collected over to your story.

1000 like a book.

It's called reams and reams like a long reach out to us and if you sort of take some of that and you've taken one.

A word that keeps coming up so you tell me a word that kept coming up over those years related to your symptoms.

Tachycardia tachycardia.

Is it pain or so if you said right, uh, she said, tachycardia that date and on that date?

So you take all the words tachycardia, how often?

Does that come?

Right, and then you take another word, as it said tachycardia sleeping ohhh tachycardia sleeping. Ohh those those two if she wakes it wakes her up.

So that's that's a pattern, a word pattern, and then tuck it hard your sleep. Exercise, tachycardia, asleep and. So what I'm saying is that.

That when you get people's stories, you can treat the.

Birds like you do the numbers. That's my thing. That's what I do it so.

It's kind of.

Mind blowing something that when you're actually explaining it that way, I'm sorry.

I just had.

That cause to think of it like a medical professional would and then you get the robustness then. So if you said like these are Kimberly stories, she's done this.

Narrative, and she's just spoken to someone who doesn't have to be a medical professional. Just someone who can record you.

Your stories of just your diagnostic story over the last two decades or whatever, and then you put all the I use envivo.

I love Envivo anybody out there from Envivo land. I love you because I put everything into nvivo and I'm able to then analyse the words as if they were numbers.

And then what I have done is I cross reference words then. So I've used. I used a sort of methodology that I've done to be able to cross reference words.

To find something so it might be that I'm finding in your story, I don't know if it's true, but tachycardia and sleep, let's say, which is an unusual thing and and then you're finding that it wakes you up alright.

OK, so that's what's happening with Kimberly. Let's see what Jane's story is, she ohhh Jane's saying tacky card, you're in sleep. What about John?

His story or John saying, tachycardia, sleep and headache ohhh OK.

And then you've.

Asked 200 people and they're all coming out with tachycardia, sleep and headache. That's a pattern.

And then you've on top of that. Then you've got all your physiological measurements.

Of high blood pressure. So you've got two data sets that you could put together.

To be able to give a full picture or red flags or whatever of this particular condition, that's it. That's all I'm suggesting. Having a mixed methodology when you're doing stuff can give a more robust approach.

To especially when you got rare conditions, because sometimes it's it's this anomalous thing that nobody's even thought of to put together, cause it's not a common ailment.

You wouldn't think to put those two things together, but because it's rare you you you get in, you get in somewhere then.

So two things I'm thinking.

Thing are, if I'm a patient at home listening, this is really fascinating and this is something that I could start doing this.

It's actually something I did start doing when I first moved to the UK as I took all of my medical records and did look for common patterns because I'm a nerd and that's a whole other story for a while and it's other time, but we will know that there are people who have.

Kept journals or who have kept symptom logs or other types of data collection that they may not think of as data collection, but.

It really is.

That's the whole point, because I feel that the medical model. OK, I'm so sorry guys, but the medical model dominates and when you have to find a cure that's absolutely right and proper.

OK, because you need to be able to have the physiological measurement. What I'm suggesting is that the patients as partners in this can hopefully help that diagnostic journey because they've got narratives, their wounded storytellers.

They've got all.

That sort of their bodies have voices so that they can put.

Into that data set so you can triangulate it so you can get the stories, the qualitative stuff and add to the quantitative stuff to get an additional sort of robustness to the data set to the.

Says, and so on. And that's where I feel that, uh, if you had a clinical research design.

You know, go into the patient at the end of the design and saying what do you think? And we'll be tied.

Somebody says oh, it's rubbish start again because they won't be. They'll just ask someone else who will agree. They'll just keep asking people until finally someone will agree.

So it's not really a valid test.

Really, but yeah, so if you have a the the you know if you have a design.

Then include it in the beginning.

You know, include you know how are you gonna widen the participation, be more inclusive right at the beginning. Ohh and.

A little plug for.

For us and Raquel on me is working with Doctor Emma Lane in Cardiff University. They've had funding from the Michael J Fox Foundation.

To do some research into Parkinson's and they want to widen the participation of more diverse voices.

And they've asked us to do that.

Yes, they have find.

Nice to help them with the design.

So I'm really pleased.

About that I must start Oh my God, let me see what time is it you know that starts in.

January you that.

Gave me a heart attack I was like.

Wait wait wait.

I'm really pleased, yeah.

I was like.

I was a.

Lost university.

Doing that.

I was about to say why are you talking to me right now then no. Why are you not over there? Like don't talk to me?

I won't be going anywhere, but I was pleased. I thought ohh thank you. You know it's like I felt so people didn't get what I was trying to say for years about being more inclusive and about inclusive research and so on.

But it seems as though it was becoming a thing.

So I'm really pleased about inclusivity and so on. And I'm not just talking about inclusivity in terms of race.

For those who think that that's all it's about. It's about people who are ultra rare conditions, or people who, with physical differences and like one of the women was saying the stigma around.

Her condition was that she felt health and social care practitioners perhaps didn't want to. She felt stigmatised by them, which is really hard because of her skin difference and everything. Some people feel that if they have a skin condition that they're infectious.

Yeah, and you know they're all this sort of issues that they have to deal with, so yeah, so it's inclusion.

Not just about races, people with differences. People who are excluded for a variety of different reasons, so it might be lack of understanding about the religious aspects of the of how they manage the rare conditions.

Who marries who? The genetics around that? You know? You know, people don't necessarily want to be coming to a clinic where they're going to be preached at.

About the the family beliefs and so on, but that's what happens. So people, some people feel that they can't go to the OR they don't feel that they want to go to the clinic because you know, maybe some some of them are not happy with the way that they live their lives. For whatever reason. You know what I mean? So there's lots of people who aren't.

Excluded for physical reasons or psychosocial or economic reasons.

Religion is a factor in terms of people participating in research and people providing their samples for research studies.

There is the economic issues that surround whether people can travel. There are, as you were saying, people with something like neurofibromatosis, where they may have large skin related issues. People might fear them, and so they feel stigmatised in their food. Don't participate.

Yes, yeah.

Exactly and they have to sit in an open clinic and you know, and they yeah and all this sort of quite traumatic for certain people as well.

You know, and offering people reimbursement after they've forked out the money for the. Do you know how much it is to get from one end of the UK to the other on a train? If the clinics in London?

It's a lot.

It's a, it's a lot of money, you know and to to offer reimbursement is wonderful, but after they've found the money to get it, it literally will be.

Yeah go to clinic or I eat one or the other and that the people are having to make decisions as as fundamental as that. You know and then have some really good support and.

Charities and so on. Who will give people grants to be able to do that? And also there are some.

Clinics who do outreach and they will take the clinic to the community if you like, or the nurses or the teams to the community, which is again really great.

So if there are any services I know of, some actually services who do that tell people it's best practise. Let people know that that's what you do, because all these sorts of things is.

And it.

It's about improving inclusion and having not just a medical model, but a psychosocial model that supports the whole person, not just bits of people.

That's what we don't hear enough in the conversation is what you've just said. We we hear you know about other pieces, but that piece is not something that we hear enough about.

OK.

So give us some shout outs before we finish.

Up this episode.

Well shout out to the rare rare quality thank you very.

Much I also have to say a really good big thank thank you to Chester University. I did my PhD.

And my, UM, my supervisor was associate professor Doctor Andrew Mitchell, who is also the Co chair of Adira with me, and he has had such faith in me because I was going to give up on my PhD because I was going through a bit of a a tough time at one point and I.

Thought oh, I'm not doing this, it's too hard.

But he did warn me if I wanted to.

Do mixed methods.

It is hard. It's like doing 2 PHD's in one, but I've come out with these fabulous skills. Now you see, yay, but it was.

It was hard so he really helped me to see my potential because I absolutely was gonna just not complete it and just thank you to you know the people.

Who have been supporting rare qual and hopefully we'll keep going. We've been going for two years now.

And hopefully we will start to get some funds because we are we run on no funds. Basically we run on pro bono little bits here, little bits there, but I just want to finally say that rare qual in the new year we will be coming in the rare qual charity and the social enterprise section. We are turning that into a.

A bit.

So we are going to be. We're quite consulting. We've had a conversation, Kimberly, haven't we? So that our the great and the good of us with lived experience in the rare disease world with lots of skills and expertise, we will be the foundation of Raquel consulting. We are approaching people. It's going to be invitation.

Only sorry guys will be invitation only of people we feel have unique skills so that we can work together on projects like you know the projects with Parkinson's with the Michael J Fox Foundation. I've got another project I've been at.

Touched by an organisation in so we'll be starting that as well in January, so there's different things that are coming our way and we will be able to do it from our own lived experience.

But also people are more than one thing, so those people. For example when I went on a conference and had to choose, am I either a researcher or a person of colour.

Or beam as they put it, I had to choose one or the other.

So stop stop doing that please. People can be more than one. People can be more than one thing and the consultancy we will have us.

You know, like yourself, you are more than one or two or three things. You're so fabulous, Kimberly, so working together, you and I and the other people who are going to be in our consultancy.

Hopefully that will be really good going forward for 2023.

That was a pretty powerful shout out if I do say so, and normally I like to give the shout out too and I I think you said it all.

There because I.

I I very much agree, I'm very much looking forward to everything that 2023 has to.

Has in store for all of us and the I look forward to the good that we can do together.

One quick thing before we finish out is that I would really love to do another mini episode which I mentioned to you before where we can go a little bit more into depth to some of these things that we've kind of touched on about adira. So if we can do a 15 minute mini episode.

Some time in the new year, great.

Thank you.

Thanks to Doctor Sondra Butterworth for joining us for today's episode of Signalise Adazi for AP.

Broadcast as usual in the description for this podcast episode, we will be leaving links to where you can find Sondra as well as rockfall and other projects on social media.

So go ahead and head over to your podcast platform of choice to find that information in the description. Or you could head over to our.

Pod beam page.

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