S1 E1 - A Patient's Journey Through Genetic Testing

Hello, and welcome to The Road to Genome Podcast.

I'm your host, Helen Bethell, genetic counselor and workforce development and education lead for the North Eastern Yorkshire Genomic Medicine Service, or GMS.

Today, I'm joined by Jack Darling, who also works for the GMS as assistant program officer.

However, Jack is here today to share his experience as a patient.

So I'm going to start by handing over to Jack so that he can set the scene for his own story.

Thanks, Helen.

So yes, I have a genetic heart condition called hypertrophic cardiomyopathy.

I was the first person in my family to have it.

No family history.

Picked up when I was about 16 through just a checkup at the doctor's and a heart murmur that then led to tests at various hospitals and quite a long journey through testing and bits of surgery here and there.

Quite a long journey, but it's been a good journey on the whole.

So yeah, happy to share about it today.

Great.

Thank you.

So you mentioned that you were 16 when this all happened.

So can you tell me a little bit about how that GP appointment came about and what did you go into that appointment thinking?

Yeah, so it was pretty much completely unrelated.

I think I went to a GP just for a checkup for something completely unrelated, but ended up having obviously as part of the checkup appointment, listening to breathing and heart, and a heart murmur was picked up then.

At that point could be anything, but was referred to the local hospital for some more tests to see what that might be.

So at that point, there was no particular mention of anything sort of heart related, heart conditions or genomics or anything like that.

It was purely a pick up at a random checkup and then, yes, more tests at hospitals, sort of ultrasounds and ECGs and things like that, that then led down that path really, yeah.

And how did you feel when they first mentioned about the murmur?

Was that, were you concerned about it or did you feel in control at that point?

I was a little bit concerned just because it was something unexpected.

But at that point, I hadn't really had sort of any other symptoms other than occasionally struggling to do cross country running at school.

But no, I hadn't had anything to sort of give any indication that there was anything wrong at that point.

So, yeah, I mean, it was with it being quite a long time ago now, I don't have a particular sort of strong memory of being that sort of fearful or anything like that.

I assumed it was something that would just be checked up and it would be fine, you know.

But obviously that wasn't the case.

But no, I don't remember a lot of fear around it really.

Not at that point, no.

And so when was the term genetics or genomics first mentioned?

Can you remember when that was?

I think that will have been at the nearest hospital to me when I was referred there and then had sort of all the tests, like the ultrasound scans and the ECGs, which then even at that point, I'm not sure that's when they would have mentioned sort of genomics because it was treated a little bit at that point just as I was given medication to sort of sort it out and keep an eye on it.

And that was that kind of thing.

It wasn't until at least a couple of years down the line until I was actually referred to a cardiology unit, LGI, to look into it more deeply.

So up until then, I was just sort of going along with it and not really thinking that much of it.

It wasn't sort of treated as, well, not important, but you know, it wasn't genomics and sort of the impact on my life wasn't really mentioned at that point until I then went to LGI.

And that was that will have been when I fully sort of got into the genomics side of it.

So can you tell us then a little bit more about that appointment at the LGI and what happened that day?

Yeah, so I was referred to LGI and saw a consultant there.

It was it was kind of night and day, really, I was sort of given a lot of information and suddenly it all sort of opened up into a bit more of an in-depth kind of discussion about what it was.

And I was there with my parents, obviously.

It's tricky with the sort of amount of appointments you have over the years and things to sort of remember everything that was said, but I do remember it being given a lot of information at that point and the fact that it could be a genetic condition was mentioned then.

And I think that's when I also was introduced to a genomic counsellor.

At that point, it wasn't sort of, we didn't go into much detail, but that was the point where it sort of started down that kind of road.

And how did that feel at that time?

I think it probably became a little bit more scary at that point because everything sort of suddenly seemed a lot more important than it had been before.

Before I was just sort of taking some beta blockers and that was it, sort of getting on with things.

And at that point, when more in-depth tests and things had been done, it started to take a bit more significance.

So at points, it was a sort of a scary kind of time.

And I had done, I was always interested in science and biology and things like that.

So I had a little bit of knowledge about the body and I wouldn't say I knew much about genetics, but I was familiar.

So at that point, it probably became a much bigger thing.

But there was always answers to my questions.

And I did feel like there were the people there who were gonna sort of help me through it, which was good.

So it sounds like you felt well supported in that.

Yeah, no, the support was there with the consultants that I saw and all of the people doing the tests.

And then the genomic counselor was brilliant, answered all our questions.

And obviously at that point, it started to become a bit more of, you know, needing to think about family and my family and sort of getting them tested to see where this had come from because there wasn't any particular history of someone else having heart conditions or passing away due to something like that.

So it was all a bit of a, I think it was a bit of a voyage of discovery for all of the family really.

Yeah, you were obviously at a young age and you mentioned you were with your parents as well.

How was that?

I think it probably, it helped, you know, and especially because when you're the person that it's happening to, it can be difficult to remember and take in everything that's said.

So it definitely helps to have people with you to sort of remember the things that you can't or to take it in when you're not able to.

I mean, it was strange in a way because although parts of the experience were sort of scary, also at the same time, it wasn't really.

I don't know if that was just the way it was handled or because it takes a lot of sort of appointments and back and forth and things to get to different stages on the journey.

So part of it does just sort of become a bit normal as well.

Yeah, it's a funny balance between new things and sort of potentially scary things, but also it's something that you're living with at the same time.

And how did you find having those conversations with your relatives?

So you mentioned your mum and dad in the room, but with any siblings, how were those conversations at that time?

Because at, as you say, 16 and 18, around that age range, to be having conversations like that, that you're driving, I'd be really interested to hear how, what were those conversations like?

Yeah, I mean, with my parents being there, sort of they were obviously going to be, they had genomic testing, and obviously I did.

I've got a sister, she had it as well, she was tested.

And it came back that I was the first person to have the variant, none of my immediate family had anything on their genomic testing.

So that was quite odd in a way.

I mean, it was good because none of them needed to worry about it.

But at the same time, it was sort of, I was the lucky one to get it first.

But there's nothing you can do about it.

And I think it is good to know.

And for me, it felt, even though I already had it, to have the report come back and a letter telling me this is what you've got and this is the name of the gene and that sort of stuff.

It is, I don't know if comforting is the right word, but it feels good to know and have that written down and be able to see it and know that that's the reason why you've got whatever you've got.

So would you say it gave you some kind of clarity to what the reasons were that this was happening?

Yeah, yeah, it's not just when you can see this is a gene that has sort of gone wrong or malfunctioned or whatever and this is what it's led to.

And also being able to then know that there's loads of other people in the world that that's happened to them as well.

I think that does lessen the fear of sort of thinking, oh, you know, where did this come from and what have I got?

And then suddenly it's this is the name of it and this is what caused it.

And, you know, you're part of a big group of people who have got the same thing as happened to them.

Yeah, it does give you a bit of comfort, I'd say.

And in terms of you mentioned that both your sister and your parents have all tested negative.

How have they coped with that result?

I mean, there hasn't been, we haven't sort of discussed it that much, really.

I know that they had the initial testing and then there was also follow-up testing sort of years down the line, which was also clear.

And I guess it's, you know, they were glad to know that they didn't also, didn't have the genes, so you don't have to worry about something that's going to rear its head at some other point.

But I think it was just, you know, I was the first person to have it and I did begin to get more symptoms from it and things.

So I'm not sure how much of a difference it made.

I mean, the more that we sort of looked into the condition, you know, and there's famous cases of footballers suddenly passing away on the football pitch and things like that, which can sort of bring it home a bit and make it a bit more scary.

But at the same time, my condition was caught way before anything like that happened.

And I think I was very lucky in that way because it might never have been picked up.

So I did feel, I felt sort of lucky that it was picked up.

And then also knowing that my family were sort of clear was reassuring too.

Yeah.

So after your appointment at the LGI, you got your diagnosis, tell us a little bit about what's happened treatment wise for you since then.

Yeah.

So with the appointment at the LGI, that's when sort of more in depth testing was done in terms of ultrasound and ECG and sort of stress testing and things like that.

And that's when it sort of became apparent that my condition was fairly serious in terms of the thickness of the septum, the middle of my heart was quite high, which sort of had some electrical implications as to the propagation of the heartbeat.

Due to those circumstances, it was very heavily suggested that I have a defibrillator fitted, just purely as a just-in-case, because actually nothing has ever been picked up that was a potentially dangerous moment on my heart rhythm, so nothing has ever happened.

But I think that was the more...

that decision definitely weighed heavier on my mind than any other part of it, as to whether to get the defibrillator fitted or not, because that has sort of quite more wide consequences, just in terms of...

I mean, it doesn't in everyday life, it doesn't have really many consequences at all, it's just something that's there just in case, but it does mean that I now have a foreign body implanted in me for quite a while and the leads go in and once they're in there for a while, they don't come out again, so that's something that I'll always have.

Or just you're going through an airport security and you need to say, I've got a defibrillator and you can't go through the metal detectors and stuff like that.

I think looking back on it, it gave me more trouble than it should have done, the decision, because I decided in the end and it was the right decision to just to get one, because why not really?

It was always going to be the right choice, but it took me a while to get there.

But I think one of the main things was just knowing how fast medical things can change and advances in medicine.

It was giving myself sort of guaranteed time for who knows what to happen.

You don't know 10 years down the line what treatments might be available.

It was just the right choice to make.

And yeah, I don't regret it at all.

So you mentioned it took quite a long time to come to that decision.

So what helped you work through that?

I think my family were obviously quite keen for me to get it as well, because it was an element of safety and making sure that something didn't happen that I would suddenly die, basically.

And if there's something you can do to avoid that, it should be done.

But I did wrestle with it for a while.

But I think it was just the thought that the potential downsides of it were completely dwarfed by the good it would do in the event that I needed it.

And if I didn't need it, it was fine.

It would just sit there and make sure I was safe in the event of something happening.

And it hasn't.

And that doesn't matter.

It's still there.

And I think I was sort of thinking, if I didn't get it and then something happened, that would be ridiculous.

I wouldn't have given myself the chance to get to a point where something else could be done or anything like that.

So I think it was probably a bit of denial of not wanting something to change my life a bit and to undergo like a procedure.

But yeah, I got through that in the end.

Yeah, I can understand that.

Big decision at a young age to come to.

And like you said earlier that the process from your diagnosis was a relatively smooth one until that appointment at the LGI where a lot hit at once.

It sounded like you had good support from a professional team in adjusting to that.

But still an awful lot at a young age.

And there's a few young men of that age that do with that.

So I hear what you're saying about that being a very big choice to take even if the answer to a lot of people can seem obvious.

It sounds like you went through a journey of working out if that was definitely the right option for you.

And you mentioned your family were naturally very keen for you to take it for them.

It wasn't a question, or rather it was a question, but the answer was obvious for them.

Did you use anybody else in you helping make that decision?

So was there any patient groups or did you have any peer support from your friends?

I don't think I hugely discussed it with many other people.

I mean, that is a sort of, or at least was more a personal character trait of mine was to, if there was something that was worrying me, then I would try and just work it out myself rather than talk about it.

I think that's a bit different now.

One thing was that there is quite a lot of sort of online forums and groups.

I mean, you've got the British Heart Foundation, and you also have groups for specific conditions like mine, which are helpful.

I didn't massively engage with them, but it was useful to be able to go online, for instance, and see people talking about it and know that they had what I had and were thinking about the same sort of decisions and see what they were saying about it and what they decided.

Staff at the hospital as.

It was always my decision, and it was respected, which I think helps as well.

It helps you come to the decision on your own, and it helps you take other people's opinions, give them the correct weight, really.

If someone is trying to badger you into doing something, sometimes, especially when you're maybe a bit younger, it makes you more not want to do it.

So that definitely made a difference, I'd say.

And if you could go back to either being fly on the wall for that appointment at 16, or that appointment even at around 18 when you were seen at the LGI, and if you could give a message to you in that room at that age, what message or advice would you give?

I would tell me to not worry so much and to just make the decision that I did end up making, but just to not worry about it and just make that decision.

Because it's difficult to get the perspective sometimes when you're trying to make a decision like that, but I know that that was so long ago, and I've sort of done so much in my life and got to various points, and luckily I would have got there anyway, because it's been fine, but I would have been denying myself the whole rest of my life if I decided not to do it purely just because I was maybe scared.

And then if something had happened, it doesn't bear thinking about really.

So I would tell me to definitely do it and just think about what you're gaining by making that decision, which is the whole rest of your life.

And we mentioned right at the beginning the name of the condition, which is hypertrophic cardiomyopathy.

So if you could talk to a patient or maybe a staff member who was coming across it for the first time, how would you describe it?

So hypertrophic cardiomyopathy, I mean, the words are large, sort of enlarging of the heart muscle.

So for me in particular, it's increased thickness of the septum.

So it's several times bigger than it should be, which then means it can impact on some of the valves.

There's less room for pumping blood around and also thicker muscle can sort of make it harder for the signals to pass across the heart to make it beat properly.

I think the thing is that some people, most people would not even know that they had it.

Mine was picked up by chance.

I did also have symptoms, so I would have probably known that something was wrong in trying to do strenuous exercise and struggling with that.

But yeah, it's a tricky one because it can be completely hidden.

But I think just knowing how differently it can present is very useful.

And just, yeah, it's tricky.

I know that for me, some of the symptoms it gave me, I might struggle sort of walking up hills or something, and how that is perceived by various different people.

It might just be, oh, you're just a bit unfit or you're just a bit slow, maybe.

But it could also be something else.

So yeah, I think it's just keeping an open mind as well.

It's very useful.

Yeah.

So do you feel like it's altered your perception of other people, that experience?

Yeah, I think so, because you never know what, you know, it's, I guess, I don't feel like I've got a disability.

And these days, I am active and I don't really have many symptoms from it, which is great, but you never know, you know, you never know what someone might have going on that's not necessarily obvious.

There's plenty of things that you can't see.

So it's just to be mindful of that.

And maybe if someone, you know, maybe if one of your, someone in your friend group is struggling a bit, you know, just maybe pay a bit more attention and see what the reason is for it.

But just, yeah, for just people to have a bit of an open mind, I think.

So you mentioned that your diagnosis is made when you were referred to Leeds General Infirmary and that it was a gradual process up until that point where you'd been received this suspicion that there might be something and there was kind of ongoing management for a few years.

And then you were referred to LGI.

And you explained that kind of a lot happened in quite a quick session at that point.

How did the question about genetic testing come about?

So I think just with the nature of the condition that I had, sort of the fact that it is often genetic and passed down, there was sort of, I do remember questions to my parents about family history and things like that, but nothing came out of that that was particularly significant.

So then I think it was just a case of being referred to the clinical genetic service for that.

But there was never a big, from what I remember, there was never a big debate about whether to have that done or not, which I can understand how there can be at times, but for me especially, I think the fact that there wasn't anything obvious in family history was just sort of, let's find out more and see if it is something genetic and what exactly has gone on.

So can you tell me a little bit more about your time with clinical genetics then?

How was that and how was that process?

It was great, to be honest.

The genomic counsellor that we had was fantastic.

She explained everything very well.

We were interacting with her a lot and she felt like family at some points.

Even if we were in LGI for something else or to see the consultant and she popped by, it would always be recognised.

She was great and there was never any sort of difficulty or bad feeling around how the genomic testing itself went.

It was just we chose to have it done.

And I don't remember any particular sort of delay or anything in getting the results, just that the results did come back and confirmed that I had a variant and that none of the rest of my family did.

And I know they've been tested again sort of years ago and the same thing.

So I think it was all positive, really, to know that and to, like I said, to see it on paper and put a name to it sort of thing.

So did you receive your result by letter or by, was there an appointment?

It was an appointment.

I mean, I think there was a letter following the appointment as well so that it was in paper.

But the first time you learnt it was in person?

Yes, yeah, yeah, with our genomic counsellor to explain it all really.

Which was, yeah, it was great.

I mean, it was just another part of the process that had been going well up until that point too.

So yeah, it was definitely useful.

It's always, I think, useful to have the opportunity to ask questions when things like that are being told to you and to also have it in writing as well so that there's something that you've not taken in, you can see it as well.

And it's you, it's about you.

So you should be able to refer to it and find out as much as you want.

So how did it feel then?

So you're there in person and you're receiving results.

How did that feel on receiving that positive result?

I mean, it was good to know what had happened and that I had that variant and that everyone else was okay.

I know that sort of a bit later on was feelings of not, you know, it was completely by chance that I had it, in which case, you know, it was some tricky feelings about it not being fair that I had just out of the blue got this.

You know, I hadn't done anything that had led to me getting it.

So why did I just suddenly get it and no one else did?

You know, especially when you're young and you're with your friends and everyone's doing normal sort of young people things and then, you know, you've been told you've got a genetic heart condition and there's all sorts of other sort of decisions that need to be made that come from that.

And yeah, I do definitely remember at times thinking that it wasn't wasn't fair that I had that I'd got it and for no reason.

And how did you or did you address those feelings?

I think, I think, luckily for me, I do sort of think logically quite a lot of the time.

I mean, obviously you get emotional about things too.

And I think the emotional side of it was that this isn't fair.

And then the logic side of it and sort of understanding that it was just a sort of a random occurrence.

You know, it's not about fairness.

It's just, it's just that it's happened.

And then you just need to sort of get on with it really because there's nothing you can do about it.

And being sort of angry or upset about something that has happened just, you know, randomly.

It's not going to help anyone.

It's not going to help yourself.

And it's not going to help anyone else that's, you know, your family or your friends, you know, there's only one way through it really to just sort of get on with it.

So I think that's the approach I took.

Yeah, it sounds like you've reflected quite a lot on that.

As you say, as you mentioned earlier about, you know, you often think it through yourself rather than necessarily seeking support from others.

And it sounds like there's an element of that there of kind of working through on the more logical side and coming to a middle ground between the two.

So looking to the future, and obviously a big part of genetic conditions are that it doesn't just impact on you, but it also has the added complication of potentially being something that you could pass on.

How are you feeling about that?

Yeah, it's funny.

I mean, for quite a while, that was not even in my head, really.

It wasn't something that I'd thought about.

And I'd forgotten what had ever been said about the chances of passing it on until recently, really.

And then I sort of looked into it a bit more.

And so there's sort of a 50-50 chance of passing it on.

I mean, my experience and the fact that I know that I've got it, makes a massive difference.

So choosing to have kids would then be just being aware of it.

And obviously it's then on my medical records, and it's something that would be checked, and it's something that would be kept an eye on.

So with my experience, it doesn't really make a huge difference.

I mean, there is that sort of feeling of, I don't want to actively give what I've got to someone else, but at the same time, it's 50-50, and I got it for no reason.

You know, you just, you don't know.

So yeah, I think it's definitely good to know.

You know, it allows me to actually think about it and also to discuss it with a partner as well.

But no, I think just the knowing is the most important thing, because that will just let us stay informed like every step of the way.

It sounds like you've taken a really positive view of it, which is great to hear that it's allowing you to be able to walk into something knowing about it, and it removes some of the uncertainty and gives you a little bit of, you sound quite empowered, that, you know, if you were to have children, then, you know, as you say, it's been prepared and forearmed.

Well, Jack, it's been absolutely fantastic to hear your story.

Thank you for sharing it so openly with us.

And I hope the listeners have enjoyed listening as much as I have.

If you'd like to learn more about any of the issues that we've talked about today, then you can find some relevant links on the podcast page of our website at www.neygenomics.org.uk forward slash podcast.

Thanks for listening.