[00:00] DR ANTONIS PANTAZIS: Hello and welcome to the Big Heart Conversation, a non-promotional, educational, hypertrophic cardiomyopathy podcast series brought to you by Bristol Myers Squibb. Today’s podcast is called Getting to the Heart of the Matter, living with hypertrophic cardiomyopathy. I am Antonis Pantazis, a cardiologist in London at the Royal Brompton and Harefield Hospital. I have the pleasure today to be joined by two great guests.
[00:30] BETHAN COWLEY: Hello Antonis, my name is Bethan Cowley and I’m a Clinical Nurse Specialist in inherited cardiac conditions.
[00:40] MARIA PSARA-PARKER: And hello, my name is Maria Psara-Parker and in my professional life I am a programme manager for a supply chain distribution company. In my personal life I was diagnosed eight years ago with hypertrophic cardiomyopathy.
[00:59] DR ANTONIS PANTAZIS: Maria, can you please share with us your experience with your diagnosis and the journey you have gone through so far?
[01:08] MARIA: Yes, Antonis, thank you. So, in 2015 I was pregnant with my son and one hour before I was due to give birth, I found out that I had hypertrophic cardiomyopathy. Prior to this, I have never had any symptoms with this condition, I have never had any health issues and the only thing I might be able to say is I was out of breath quite a lot during my pregnancy, but I thought this was because of my pregnancy, so it was never picked up by the healthcare professionals prior to just an hour before giving birth.
[02:08] MARIA: So, after I gave birth, I was referred back to my GP which is a general practitioner and then I went through my referral process and the GP referred me to a hospital which was a general hospital near the area I was living in and then I had to be seen by a cardiologist but the lead time, it was quite a long time for me to actually be seen by a cardiologist in a hospital. In the meantime, as well, I was looking after my son who was only a baby at the time.
[02:50] MARIA: So, after I was referred to the local hospital I was seen by the cardiologist, and I had some tests done there. I had an episode in the hospital where my heart stopped for seven seconds when a loop recorder was to be implanted and that was the time I had to stay in the hospital for a couple of nights and the cardiologist then referred me to a more specialist clinic, specifically they were looking after patients with cardiomyopathy. The waiting time was a long time, I was on the waiting list for about three months’ time and once I was referred then everything kind of changed for the better.
[03:39] DR ANTONIS: Maria, which have been the most stressful moments in all this experience?
[03:45] MARIA: I would say it is the unknown, not knowing much about the condition, not having much information at a primary care level with the general practitioner or even at the hospital, the general hospital, having much knowledge about this condition so for me, the most hard is the unknown and me trying to find information on the internet. Then some of the information on the internet can be negative, quite negative so it would have a massive impact on me mentally and then at the time, obviously it was the physical difficulties I was getting with the condition as well, so all of that contributed to my overall wellbeing.
[04:40] DR ANTONIS: Did you consider this condition from the day of the diagnosis as a genetic condition which could be passed on to your children?
[04:48] MARIA: No, I didn’t know much about the condition. I was looking online to find as much as I could about the condition. I could see that some of the articles mentioned about genetics but because I haven’t had my family history, we have never had any heart conditions and also for me, because of when I was diagnosed I was in my 30s, early 30s and previous to this I had never had any symptoms, I just didn’t think that … I couldn’t believe actually it was something genetic.
[05:29] DR ANTONIS: But when you learned that this was or could be a genetic condition, did that generate a lot of concerns for you, given that you were a young mother?
[05:40] MARIA: It did, it did for me, yes, because I didn’t know how the future was going to look like for me and also I was very worried about my little boy because if it was genetic, that meant that he could have also the condition.
[06:01] DR ANTONIS: Did you at any point struggle with physical symptoms?
[06:05] MARIA: After I gave birth from the start, yes, lots of physical exhaustion. I couldn’t go up the stairs for example, I couldn’t walk very far, very out of breath, I used to feel dizzy all the time. As a 30 year old at the time I couldn’t do many of the things I could, I should be doing. And then on the other side, I had a small baby as well and I had to look after it and I used to feel quite a lot of guilty, feeling I wasn’t being a very good mum or I couldn’t give what I wanted to give to the baby. When I say caring, I couldn’t even do the little things like going out for a walk, I couldn’t do the easy tasks.
[07:03] DR ANTONIS: Professionally, did it affect your professional life, this diagnosis?
[07:07] MARIA: It did. Because I couldn’t do many things, I wasn’t able to work for a little while and that also impacts me mentally as well because I used to be a person prior to the condition and prior to find out, I was very socially active, I used to enjoy going to work with my friends, colleagues and now all of a sudden it was just a totally different scenario, sort of inbound at home with a small baby and trying to go through things that I had to go through.
[07:49] DR ANTONIS: Are you in a better place now?
[07:52] MARIA: Yes, most certainly I am in a much, much better place now. I work full-time and also I look after the little one, I have a small family, it has given me since I’ve been referred to the specialist clinic and having the treatment and the care I have received from my healthcare professionals, my mental health, my physical health, everything has improved.
[08:33] DR ANTONIS: Did the treatment help you a lot? The medication?
[08:36] MARIA: The medication did help me a lot from having struggled quite a lot from the start and going on to the medication, it did help me. It improved a lot of the daily tasks I was doing at the time but it wasn’t 100%, I wasn’t 100% like my old self but it definitely helped improve my life at the time.
[09:11] DR ANTONIS: Young patients don’t usually like taking medication; did you like it – did you have any side effects from the medication?
[09:21] MARIA: Well, I was happy to take the medication as long as I could get some kind of improvement with my day-to-day life, definitely. There were some side effects but trying to balance everything, I would much rather take more medications to help me than having to deal with the side effects.
[09:50] DR ANTONIS: Bethan, how do you usually see the compliance, the adherence of the patients to the medication you recommend?
[10:01] BETHAN: Well, with someone like Maria who is a textbook dream patient, it’s not an issue at all because you know something is going to be prescribed and Maria will take it and the adherence in those situations makes all the difference but not everyone is Maria unfortunately and hypertrophic cardiomyopathy affects a spectrum across all ages.
[11:00] BETHAN: When Maria presented to the cardiomyopathy service, I remember the first time I met you and I saw the medications that you were on when you came into clinic and how unwell you were feeling and I knew at that point, because you were so keen and engaging, I knew it would be even easier and with that, some of the lifestyle suggestions that we made as well but yes, going back to your question, it certainly is based on the person, their age, where they are in their life, we have got people with all different backgrounds, different careers. Some people have side effects and some of these medications can be quite debilitating, they can make you very tired, as you mentioned with some of the medications you had; blurred vision and that stops a lot of people from taking certain medications because they might need to drive to get to their work. So, it’s a balancing act, it’s a balancing act with everything.
[12:12] DR ANTONIS: Talking about the diagnosis of hypertrophic cardiomyopathy, do you think patients enter the service late, do they enter the service at the right time or is it very variable?
[13:44] BETHAN: It’s very variable. I guess there are two kinds of stream – maybe more than that even – of people that present. One of them will be those that present locally and then get referred to us as a specialist centre. Sometimes we can get them in at the time that they get presented in a timely way and other times they are quite advanced in how they’re feeling and their symptoms. There are others there I guess who we diagnose on family screening so we do get a fair few people that get referred to us for that basis alone and we make diagnoses from that.
[13:12] DR ANTONIS: And does it have an impact on their overall clinical course, the timing of the diagnosis and whether they get the right treatment at the right time?
[13:26] BETHAN: I think anecdotally, maybe. People presenting further down the line when they are really quite unwell and we are limited in terms of options for them with treatments, then not only are you kind of fighting a war with their condition and their symptoms but also psychologically too. They might not be in a psychologically great place to deal with some of the more advanced invasive treatments and we see that a lot with people who are really unwell with obstruction.
[14:00] DR ANTONIS: I wonder if the delayed diagnosis leaves less room for manoeuvres at the end because patients have changed their lifestyles to adopt to the condition and it’s sometimes very difficult to go back to where they were before and therefore the earlier this diagnosis takes place, the more the options these patients have in terms of management and better prognosis.
[14:32] BETHAN: Absolutely and the earlier we are able to intervene, the more options we can present to people and they can become more of a stakeholder in their own care and decision making and that’s really, really important. Another thing is what we see is that some people present and objectively you are looking at their information on echocardiography, on a treadmill test and they look like they should be having a lot of symptoms and we’re not here to talk them into having symptoms but then through really key questions and information finding and clinical assessment, I think people that work in this area and specialise in this area can hone in on this relatively quickly is that you notice a pattern of adjustment, adaptation even to the symptoms … not to the symptoms but I guess to their limitations so I know Maria, you said you had absolutely no symptoms and a lot of time we might hear that but actually when you talk to people, they did but they didn’t realise it. They’ll say I’m fine, I’m not getting breathless, I can walk down the street but actually when you ask them, they are walking a lot, lot slower so they don’t push themselves into getting any symptoms.
[15:56] DR ANTONIS: Considering the course of your condition from the diagnosis until now, are there any easy steps to fix, do you have anything which is on your wish list which if it could be different it would help a lot? Is it communication, is it the information you get back from the healthcare professionals, is it the way you contact them and the access you have to them?
[16:30] MARIA: I think if I could go back, I think communication, like you said, I think from the primary care and then maybe in between the primary and the secondary care or maybe the healthcare professionals at that level, they need to have more awareness of the kind of services that for example here in the UK are offering for specialist clinics like the one I was referred to or maybe the waiting times could be less or even leaflets or instead of me for example going and looking at things by myself online, which might not have been quite useful to me, having some kind of reassurance from a healthcare professional at the time maybe would have been easier. I know, Bethan, you mentioned about the medication and when the patient is referred to the clinic sooner, the medication will help but also it is that time that the emotional and mental impact, this kind of condition, will have some on that. It will take them longer to be referred and to have the right medication at the time so everything is impacted, physically and mentally and mental is a big issue as well, mental health.
[18:14] DR ANTONIS: Bethan, the healthcare system is structured in a way that we can probably not change very much for the purpose of delivering care for hypertrophic cardiomyopathy so the specialist knowledge is concentrated in some areas and in most areas there isn’t much specialist knowledge about this condition. However, patients have hypertrophic cardiomyopathy in all areas and they live everywhere so how do you think we can assimilate the knowledge and help healthcare professionals in all places have at least the basic knowledge, be able to respond to patients and possibly forward their care to more advanced stages?
[19:03] BETHAN: So I guess the first thing is probably what Maria touched on which is signposting, at the very least signpost to your service that can help. I guess it’s about working as part of an MDT, so a multi-disciplinary team, and that doesn’t just mean within one centre, it could be networks with other cardiology services in and around maybe a more specialist centre. There are lots of things, specialists in cardiomyopathy for example can advise on and can be easily carried out more local but when it comes to discussing … some of these patients can be really complex and let’s remember, it’s not just hypertrophic cardiomyopathy, often they come with comorbidities as well that have got to be thought of and factored in too. So, approaching things from more of a multi-disciplinary type view in terms of meetings with external colleagues, sharing case studies, reviewing case studies, learning from that and then that information then gets brought back locally too. Obviously doing podcasts like this also help to share the knowledge and not just at cardiologist level but I’m talking about all healthcare professionals, so certainly within nursing there’s big movements with cardiology in nursing, there are big societies and networks. There are lots of different avenues but I guess first and foremost it would be knowing where to signpost to and when.
[20:44] DR ANTONIS: Yes, I agree and I think on this topic the pandemic has helped a lot because it has advanced a number of changes within the healthcare system which would otherwise take many, many years to be implemented and I think key in all this is to share, to share the knowledge, to share the experience; to work together, not in silos and I think that part of this sharing is the education so delivering education at all levels is very important. Another part of this sharing is the clinical protocols and the management of difficult but also easier cases in an environment as you describe which is collaborative and people attend in order to find answers to their difficult questions and at the end this all describes a network. I think working in a network for all the conditions but more specifically hypertrophic cardiomyopathy is the way forward. The network will enable patients to have pretty much the same care whichever entry point they approach of this network. This will enable also the experience to be shared between all centres and I am pretty confident that all centres have something to contribute even if they are not the very specialist in this particular condition but they have a lot to contribute because of the experience they get from the patients, they face different problems which perhaps a specialist centre has never thought of and so it’s very important to take all the opinions on board and this can now happen without the geographical boundaries.
[22:45] BETHAN: And I think we have seen that no more so than with a familial condition because not all families are looked after in one centre, it doesn’t happen or work like that. Families are geographically all over the place now but to be able to liaise with other centres in a more collaborative way, to be able to look after families, I think only reaps benefits when it comes to information sharing, in being able to properly characterise the condition within a family which we know is really, really important when we are looking at diagnosis and treatments. Again, anecdotally, we’ve seen that being really quite beneficial within our own centre.
[23:29] DR ANTONIS: Maria, you don’t live in London but you have most of your care delivered in London. How would it be if you were in your local hospital and you knew your local hospital is constant and uninterrupted communication with the centre you visit in London, without you having to travel and physically attend clinics in London?
[23:56] MARIA: It would be my preference if that could happen because it’s not only for me now, my son has got the mutation of the condition so I have to travel to London for him too so it would be much easier to manage, especially as he is a little boy and to manage the travel, doing it from my local hospital would be much, much easier.
[24:29] DR ANTONIS: Everyone would be in a good place if this were the case in that the specialist would have an easy way to share with their colleagues what they have learned over the years and through research. The local services would benefit from the expertise of the centres that have the experience and the patients would have their care delivered locally but with the quality and the contribution, the input of the specialists.
[25:07] BETHAN: Just to add to that as well, you have been relatively well, Maria, but there are people that have acute issues and problems and symptoms, whether that be fainting syncope or palpitations or chest pain and they will go to their local hospital, they will present at their local accident and emergency department which is exactly what they should be doing but what we often hear is that local hospitals then get a little bit more frightened of the condition than anything else and will maybe monitor them for a bit and then discharge the patient and say contact your specialist service. Maria, I know that you’ve had that, haven’t you?
[25:54] MARIA: Yes.
BETHAN: So, to be able to have more of a collaborative and an interest locally as well would be safer for the patients that are presenting during acute phases
[26:05] DR ANTONIS: Historically, hypertrophic cardiomyopathy has been considered the condition that can cause sudden death, there was a lot of fear about it and rightly so obviously because this is a very tragic adverse event in the clinical course of hypertrophic cardiomyopathy. However, what has not been discussed very much in the previous years was what is the impact of hypertrophic cardiomyopathy on the daily life of the patients who are diagnosed with this condition and I think we are gradually now shifting towards this type of discussion, so Maria what do you think hypertrophic cardiomyopathy has been for you? A fear of sudden death maybe initially or the daily struggle with all the issues you have described earlier?
[26:54] MARIA: I think a combination of both. At the start it was the sudden death, it definitely was a scare for me reading about it in articles but then having to live with that and then the physical impact as well and the emotional impact that I had. I talked earlier about not being able to do things so how I can describe it is like I was feeling imprisoned in my own body. I was a young person is my early 30s and not being able to do tasks that a normal young person can do, it was that, I felt like imprisoned so it impacts everything, this condition. It is not only the physical, it’s mentally and physical and in my view, having the right care with the right people, the right healthcare professionals, the right medication and the treatment as well is very important.
[28:02] BETHAN: It was interesting actually what you just said about being young and imprisoned in your own body. You associate heart problems with older people and it is quite often I will get the younger people that we look after contact me from a hospital bed in another hospital, they are on an adult ward and they might be 17 or 18 and they are surrounded by old people and they discharge themselves on that basis.
[28:30] DR ANTONIS: Bethan, what do patients usually complain of during their regular follow up appointments? Is it the main question of sudden death again and again or are they more worried about their everyday life symptoms, their future with a professional life, a family life and similar things?
[28:51] BETHAN: So, actually in my experience, when I started in this area 15 years’ ago I thought it was all sudden death, sudden death, sudden death, articles on sudden death, risk stratification, keep them well, etc, etc, etc. As time’s gone on what I’ve realised is that actually one, it’s not … obviously we have got to keep them safe and make sure that we do assess that risk but you know, it’s pretty small once people are being looked after and even population wise it’s small. Although it can be devastating, it’s not the biggest concern clinically when it comes to managing people and families. Very rarely do people mention it, rarely in my experience do people mention sudden death, it’s more about being able to access treatment, having issues maybe locally with getting prescriptions, travel insurance is one, life insurance is another, family planning is a huge thing – they may have children, they may want to go on to have more children and be able to manage them through that. It all comes back to living with the condition and their quality of life. It will be symptoms of course, we manage and look after symptoms, people feeling unwell, unable to do things but rarely does anybody mention sudden death yet it is something that still remains quite a focus I think within cardiology, it always comes back to sudden death as a hard outcome.
[30:33] DR ANTONIS We have gone through a number of important aspects of hypertrophic cardiomyopathy today. We have started from the diagnosis which can be delayed or it can be timely but often comes with challenges because it is not just the diagnosis. This condition was previously considered to be rare and not much thought has been put into what happens after the diagnosis but the diagnosis is just the beginning of a journey for the patient. They have to live with the condition, they have to adapt their activities, their lives, their hobbies and make sure that they can come as close to normality as possible. In this long journey they need some clarity; they need probably clarity all the time, whatever the plan is and the management proposed and recommended is, it has to be discussed in clear terms with the patient because they are the partner in this journey. They need to understand, they need to know, they need to express their opinion. A good healthcare system should be able to do that. provide the relevant information when needed in order to assist the patients to make the right decisions.
[32:00] DR ANTONIS: The healthcare system needs to be able to individualise the management and escalate it when needed and for all this, the specialist input is necessary but the specialist input can be provided in many different ways these days. It can be provided through education, it can be provided through exchange of opinions, it can be provided through a multi-disciplinary care model which is nowadays easier than ever and it is very important that we try to apply this for the care of hypertrophic cardiomyopathy.
[32:40] DR ANTONIS: Important also is to get the patients feedback on board at all times. We call it patient recorded outcomes these days, it may change its name in the future but it is important that the patients have their say when the healthcare professionals recommend different options, from the options that are available at any time. It is important that the patient understands what suits them best, what suits their families best, what is in their best interests. In order to achieve all this, I think the healthcare system has a very important role, It has to enable a partnership between all relevant parties with the patient in the centre so that the care for hypertrophic cardiomyopathy brings back to the society these patients as very active and not debilitated individuals. Hopefully, with the technology and with a different understanding of the condition and of the care for this condition, this will be achieved soon.
[33:57] DR ANTONIS: Thank you, you have been listening to the Big Heart conversation. I also thank my guests Maria Psara-Parker and Bethan Cowley for their excellent participation in this discussion which was brought to you by Bristol Myers Squibb.
