Matt Burgess (00:08):
Hi, and welcome to Demystifying Genetics. And today on the show I speak with a social worker, John Conaghan. He's a social worker who has training in social work and also in law from Newcastle. And today we talk all about Huntington Disease. So if you'd like to find out about Huntington Disease today is the podcast for you. My name's Matt Burgess. I'm a genetic counselor, and if you'd like to know a little bit more about me, maybe check out my first podcast called Demystifying Genetics with Matthew Burgess. I'm really excited to have John Conaghan here this morning on my podcast, the Mystifying Genetics. And I think today I'd really like to talk about all things Huntington Disease with you, John.
John Conaghan (00:59):
Sure. Matt.
Matt Burgess (01:00):
So you're a social worker living and working in Newcastle, and you have many, many years working with families with Huntington Disease. Maybe first things first, can you tell us a little bit about Huntington's and like sort of how you describe it or how you explain what it is to people?
John Conaghan (01:20):
Sure. Huntington's disease is an inherited neurological degenerative condition that has onset usually in about midlife. Although onset can occur really at any stage during life from childhood into old age
Matt Burgess (01:36):
Uhhuh <affirmative>
John Conaghan (01:38):
When it manifests, it usually creates a sort of an increasing cognitive impairment for people. And also they develop involuntary movements become unsteady on their feet, eventually lose the ability to, to mobilize themselves independently. And thirdly Huntington's disease is associated with personality change, which involves the sort of propensity to be, you know, more irritable and argumentative and just a, a little bit more difficult to get, to get along with. Yeah. In general.
Matt Burgess (02:17):
Yeah. And so sort of working in, in your job are you involved with the, the testing of unaffected people or are you more sort of working with people that are affected and sort of helping them with, with sort of like social work things?
John Conaghan (02:36):
No, my, Matt, my work involves coordinating the presymptomatic testing program. The people who are, have a parent, I suppose the usual case as a parent known to be affected by the condition. So the gene for, he was discovered about 25 years ago. So that's enabled people who have a parent with Huntington's disease to find out if they carry the gene before they may develop symptoms. Uhhuh <affirmative>, of course, they've got a 50% chance of having inherited that gene when they were conceived. But I also have contact with the families and assist with some of the, you know, as you suggested, more of the social work type duties or care in terms of ensuring that they've got the right care and support at home that they need.
Matt Burgess (03:24):
Yeah. Okay. And so were you working in this area like 25 years ago when that genetic test became available? Or did you sort of start in this area a bit after that?
John Conaghan (03:37):
No, Matt, I was fortunate enough to be working in a unit at the time when the gene was discovered back in 1993. And some months after that discovery was made, labs were set up to accept samples from people and testing started from there. So I think the first sample that I I sent to the laboratory was late 93, so. Wow. we, I, I was on, I was there when, from its inception, that is the inception of the start of the genetic testing program Wow. In Newcastle.
Matt Burgess (04:13):
So working with families before that did, were you hopeful that a genetic test would become available and, you know, like, is that what people were sort of hoping for?
John Conaghan (04:24):
Well, in a, in a sense, I think that was, that was the big star on the horizon for, for many families at the time. There was a form of testing available to families, which was called linkage, which involved looking at the blood samples of affected and unaffected relatives and the person whom was undertaking the test as well. Yep. Comparing those samples. But there were problems with that form of testing that was that often involved getting in contact with relatives that you might not have necessarily been close to you also because you were having to talk to 'em about providing a sample didn't have any privacy or confidentiality around your need to have a test. So yeah, there were problems that were embedded in linkage. So a direct gene test allowed families, or not just families, but allowed members of families to, to have a genetic test in private, if that made sense and could do what they wanted to do with that information. Oftentimes telling families, but not sometimes delaying telling families for a number of reasons. Yeah. Yeah. So I think the discovery of the gene was also attached to a degree of hope that if we had discovered the gene that in the ensuing, you know, 5, 10, 15 or 20 years, 25 years, you know, perhaps there'd be a better treatment available. Mm-Hmm. <affirmative>, as I speak to you at the moment, though, that treatment hasn't quite surfaces yet, although things look promising again on the horizon. But I, I may get into that a bit later with you.
Matt Burgess (06:10):
Okay. Yep. Yep. And so I know sort of early on in the literature, the, the worry was that if people found out that they were definitely going to develop Huntington Disease sort of down the track in their life, that maybe there would be a higher chance that people would, would die from suicide. Is that, and my sort of understanding is that that really hasn't sort of happened at all. Can you tell me a little bit, sort of more about that particular topic?
John Conaghan (06:43):
Yeah, sure. I think, you know, what you say is correct. There was a certain concern primarily amongst the medical profession that, sure, we, we've discovered this, the gene for quite a you know, a chronic and severe human condition, but all because we've discovered the gene for, is it appropriate for us to provide a genetic test for those that typically call that risk of the condition? What happened in, it was interesting from my reading of this, what happened was that despite the concerns that the medical profession had, that that people in finding out they had a, had the duty for a condition and then obviously would go to develop it, which may cause them to harm themselves, there was, for the want of a better word, I think a, a strong proclamation from the lay community that this is their information and they had a right to access that information irrespective of what other people thought about what they might want to do with that information.
(07:50):
Mm-Hmm. <affirmative>. And, and as a consequence of that in the early days of the provision of genetic testing for those at risk of Huntington's disease, there were sort of relatively strict protocols in place under the guise of research to try and ascertain what were the adverse effects that were gonna come out of provision of the provision of genetic testing for Huntington's disease. And you know, through the voice of the lay communities, genetic testing slowly became available throughout the developed world and later in third world countries. And people have accessed those services to a lesser or greater extent in different countries depending on you know, perhaps the incentives or the costs that people see associated with finding out that information. But as you said, testing has proceeded, and the adverse consequences of, of Huntington's disease, I think, have been less than what was first anticipated.
(08:52):
Mm-Hmm. <affirmative>. There was a study back in the late nineties which looked at the adverse consequences of predictive testing, and they found a, a very low rate of adverse effects. And that was encouraging, not that it was meant to say, look, we, we provide this test to people with, you know, less less safety mm-hmm. <Affirmative> or safeguards in place, but, you know, people were using this information for other purposes. They were using the information to essentially to plan their life Yeah. To decide, for example, whether it was better to do the things they wanted to do, perhaps they were planning to do later in life, but planning to do them earlier in life when they could. And, you know, other decisions, like for example, having children or not to have children, what way was it best for us to conceive children? And also, you know, was it worthwhile perhaps doing other things like perhaps studying, you know, undertaking some sort of training that may take years, and people contemplated this with the information that they received through the, their genetic tests. Mm-Hmm. <affirmative>. So in summary, contrary to what the initial concern was, the test has been provided throughout the developed world with, with very, very small adverse consequences. Mm-Hmm.
Matt Burgess (10:20):
It, it sort of brings up that idea of medical paternalism and you know, on one hand I think that most medical people really want the best for their clients and their patients, and they, they want to do what, what's right. But yeah, I would agree that it, it really is the information for the clients, and it really should be up to each individual who's at risk to sort of make up their own mind about how they, you know, if they would like a test and when they would like a test, and maybe even how that test happens.
John Conaghan (10:57):
Absolutely.
Matt Burgess (10:58):
And yes, sort of just on that point, like I know the way that you know, in, in genetics we talk about predictive testing or, or presymptomatic testing. So with Huntington Disease it, it's a genetic condition. So people are, are born with the, the gene change or, or the fault in the Huntington disease gene, but they don't necessarily develop symptoms till later on in life. So unaffected people can, can have testing and, and that's called predictive or presymptomatic testing. Sort of, you kind of alluded to it or mentioned at the start, it sort of was much more rigorous and yeah, sort of quite paternalistic, like, this is how it's going to be if you, if you wanna test, you're gonna do it this way. Mm-Hmm. <affirmative>, have you kind of seen that process change or become more relaxed, and is that a good thing?
John Conaghan (11:55):
Well, I think it has relaxed, I mean, early on, and I'm not saying that I can't speak for all testing centers because I, I'm not involved in the testing in all testing centers, obviously. But to a lesser or greater extent, I think that people's access to the tests and the testing processes or procedure has become somewhat more, more accommodating, I think, to people's needs. I I can remember in the early days or, or, or, or the early guidelines for the provision of genetic testing for HD that people suggested that they should see the guidelines, I should say, suggested that people should see a neurologist or even a psychiatrist before they had the test. But what we've seen today is a, a lessening of the imposition of those, you know, pre-test consultations before people receive a result mm-hmm. <Affirmative>, and, and, and I, and I say again, I think this has been in response to not only what research has found, but also the voice of the people themselves saying, look, I, I'm requesting a genetic test because I'm at risk of Huntington's disease.
(13:14):
I'm not seeing why I should be burdened with having to go and see a neurologist or a psychiatrist in an effort to find out this information, which is important to me in which I need to know, you know, to plan my own life. Yeah. and, and I think some of the relaxation, if I could say we use that word has come about through the engagement of the you know, the Huntington's disease community throughout the world in describing what they would, what they experience or what they'd like to see as a reasonable having reasonable safeguards but not owner and safeguards in place for them undertaking the test. So yeah, there has been a relaxation that, and I, and I, and I think that in response to that, some of the people have, you know, some of the comments that we've heard over the years is, look, if I have the gene for Huntington's disease, I'll certainly need to consult a neurologist at some stage in the future, but I don't necessarily see the need to do that before I find out whether I have the gene or not. Mm-Hmm. Because obviously I might not need to see this person if I don't have the gene. It sort of, in a sense, one could argue a waste of sort of valuable resources. Mm-Hmm. So it, it come about through stronger voice from the lay community. And their concerns have been listened to you know, in accordance, you know, the experience of the professionals working in the area and what the research has shown today
Matt Burgess (14:59):
Mm-Hmm. <Affirmative>, and I know that sort of in the literature or, you know, when people are talking about Huntington disease and, and testing of unaffected people, they, they talk about the, the concept of people self-select. So the, the people that do come forward for testing are a particular type of person. And I don't know, I used to kind of think that was people that thought that they were unaffected or people that I don't know what I used to think, but now I, I think now it's kind of changed. It, it's like people that think that they're, they're ready to actually think about the test. You know, is that something that you see, or like, do you talk about you know, this concept of people self-selecting for testing?
John Conaghan (15:52):
I'm, I'm aware of, you know, the literature in that area. I, it's not in a sense the way I see it completely. I, I do think there are some people, obviously who have caught long and hard about having a test and come forward. I think that the implication, the implication, I suppose of, I think of using a term like self-selection, which is obviously sometimes associated with some sort of ego strength that the person has in coming forward, because it sort of connotes the person who has come forward has a degree of capability or competency about the way they might handle the information for which they're about to receive in terms of the genetic tests. But I, I think it's one, I think it's one factor that that plays or determines who comes forward. In my experience with families, one of the things that I, I suppose in relation to testing that is that you can determine when you're going to find out if you have the gene or not mm-hmm.
Matt Burgess (17:14):
<Affirmative>,
John Conaghan (17:16):
But you can't always determine what's happening within inside the family at the same time. Mm. And what I mean by that is that, and I'll give you an example. If a person is at risk, they may have other siblings as well, but if, for example they might have lost an uncle or an auntie to Huntington's disease, they might have a parent that is very unwell with the condition, the extent of the grief within that family can be quite high.
Matt Burgess (17:45):
Mm-Hmm. <affirmative>
John Conaghan (17:47):
Having a genetic test and finding out that information can sometimes in, in a sense, add to the, to the grief within the family. And I think having a genetic test sometimes can almost collapses time. It brings the future forward. Mm. And in, in a sense, I think people who were determining the timing of them having a genetic test, sometimes I think take into consideration factors outside of themselves. And I think consider at times the, the broader family, not only their nuclear family, but perhaps some, sometimes even their extended family mm-hmm. <Affirmative>. So I'm hoping my making this clear that while strength is one factor, I, I don't think it's the only factor that determines why people come in to have a genetic test. Mm. As I say there's a lot of grief associated with Huntington's disease, and I, I think the timing of a, of a result, because it can be shaped around the person's needs.
(19:00):
I'm not saying only their needs, but sometimes considerations are taken into account of just what, you know, the nuclear family or their close family is also experiencing at that time. Yeah. Yeah. I also wanna say that the other thing i, I wish to say is that when people have lived with Huntington's disease for quite some time, and many of the people, well, not a reasonable amount of the people that I see have lived with the parent with Huntington's disease for, you know, five, eight or 10 years mm-hmm. <Affirmative> so they've, they've witnessed it, they've experienced it, and some of those people wanna find out as early as possible whether they carry that gene. And, and so they're coming from a very informed position. They might only be 17, 18 years old, but they, they wanna ascertain from a very early age where they stand with this condition so they can be in a position to plan mm-hmm.
(20:02):
<Affirmative> not that, you know, they come and sometimes they get, obviously a result, which says they don't have the gene. Other times they find out that they do have the gene, but they're in a position to, to have that information and to make the plans that they want to and shape their life in accordance with the way they want to. Whether it's about having their own children earlier than what they expected, for example, or doing something earlier than what they might have first anticipated. They might wanna do something. Mm. So going back to your original question, whilst it may appear that people who have a strong sense of confidence or ego strengthen themselves would come forward and have a genetic test I think there are other reasons why people either refrain from having a test but may have it later on. Mm. but don't come forward initially when they, when they've got the opportunity to. I hope that makes sense. Yeah,
Matt Burgess (21:06):
No, it makes perfect sense. I, I think, you know, it really demonstrates that this is a, a complex and and complicated condition. You know, I love genetic counseling and you know, I think hopefully it doesn't sound too twee, but you know, like I think it's a real honor working with this condition. Like Huntington disease is a, a horrible, terrible condition, but it's sort of one of the ones that you know, I enjoy working with the most at, at work. Mm-Hmm. And I think for, yeah. You know, the things that we ask our clients to do or, you know, you know, with the, the example you just gave of like a young person coming forward you know, not only are they dealing with the, the, the loss of the healthy parent but also thinking about, you know, future planning and, you know, when a lot of their friends and you know, are out having fun and being normal sort of teenagers or normal young people. And you know, our, the clients that we're working with are, are making these sort of huge decisions and mm-hmm. Yeah. It, it's, it's really difficult.
John Conaghan (22:15):
Mm-Hmm. And they, as you say, they're, they're introduced to a caring role very early in life.
Matt Burgess (22:22):
Yeah. Yeah. And you sort of mentioned that like the family dynamics and, you know, Huntington disease is a, a condition that follows a, a dominant pattern of inheritance. So that means when mm-hmm. <Affirmative> a mom or a dad, when a parent is affected, there's a 50% risk of each child sort of inheriting the condition. And I always find it interesting when we, you know, work with families and, you know, there, there's lots of children and, you know, in some families, and, and you know, it's obviously just the lack of the draw with dominant conditions, but we see some families where everyone tests positive and then other families where everyone tests negative and Mm. It sort of really highlights sort of yeah. Family dynamics and how things can change in a family.
John Conaghan (23:17):
Absolutely. Absolutely.
Matt Burgess (23:20):
And like I know with you know, there are families where, you know, all of the children have tested positive except one, and you know, it's almost you know, it's this thing that we sort of you know, we've labeled survivor guilt and, you know, you kind of as a, as a person that hasn't really thought much about it, you would think, oh, you know, they must be really happy that they've tested negative. And, you know, isn't that a great thing? But you know, that that happy result or that negative result actually does have a, a, a twinge of you know, sadness there as well.
John Conaghan (24:01):
Yeah. I think you're touching on something that's very peculiar to Huntington's disease testing in a sense that I think some people can feel, you know, an initial sense of relief about their own future if they find out they haven't got the gene, but in a way their life is, is going to be always sort of somehow connected or hinge to the condition because, you know, they have one or two other siblings who may be affected by the condition and their life will be continued to be affected in a way by Huntington's will well into the future. It, it sort of, with other people having other siblings, it, it, it sort of, you, you see it a act as a sort of some sort of restraint on people sometimes to sort of fully sort of be you know, just generally pleased about their own testing outcome.
(25:02):
But they, they feel very they feel for their, their loved, you know, they very much loved siblings and the focus is upon their sibling rather than themselves. Mm. Much, much the same as it as a parent often has their focus on the children rather than themselves Mm. And concerned for this, for their offspring rather than their own self and the future. But the sense of so survivor guilt, it, it's something that I, I think is there that in, in a sense people have to deal with and try and get on and live their own lives so much, very much like ex experiencing, you know, our own grief and bereavement that we have in our own lives. We, you know, we still have to continue to do the things we need to do in our own life, but it, it's shadowed by that you know, the ongoing grief that's often associated with HD and seeing, you know, not only a parent, but also a sibling deteriorate with the condition
Matt Burgess (26:17):
Mm-Hmm. <Affirmative>. And, you know, when we're working with families and, and offering testing, you know, most of the time when people sort of come forward for testing you know, I feel like they're experts in Huntington disease. They've, they've lived with mm-hmm. <Affirmative> family members that have been affected. They've, they've seen the different stages of the condition. And you know, I think that they really have a, you know, a, a, you know, a fully sort of lived experience of the condition. And I think when I sort of started out, I used to think, oh, you know, working with this type of situation is difficult. But I think now one of the difficult things I see is when I'm organizing testing in someone who's at risk, but they don't actually know the condition. You know, they, they haven't actually lived with an affected person or they've never really seen it, and somehow they've learnt that they're at risk and they've sort of presented for testing.
(27:22):
And, you know, like everybody, they've, they've got a right to testing. And I kind of always question, you know, if, how much I should tell them this is a really bad condition, or, you know, like, I feel like it's my job to sort of talk about the condition. And most people have sort of already looked it up themselves, but I, I kind of wonder whether they, they really get it or, you know, not that I think I really get it, but, you know, do you know what I mean? Like, is that something that you see as well?
John Conaghan (27:53):
Well, yeah, you, I suppose you see this, I was just thinking of cases where there's a new mutation in the family and you know, people, as you say, didn't know of the existence of the condition in the family. It's, it's some something that you know, normally I, I have people generally ask questions about, and we try to have a conversation about it in terms of the, the symptoms that people are experiencing at any one time, but trying to inform people that things are, things will change over time. Huntington's disease, as you know, Matt, is a, it's a, it's a slow progressive, but inexorable condition which just gradually ever so gradually over like a 15 or 20 year period takes away people's mental and physical abilities. Mm-Hmm. <affirmative>. So yeah, it's a difficult discussion to have with people sometimes. I'm not sure whether I'm, you know, I'm actually, you know, identifying with their, not wanting to talk about it either, but I'm, I suppose there's part of me that's a guiding principle in my work with people is that I try to, I try to start where they're at and what their needs are or what they express to me, which raises an interesting question, doesn't it?
(29:29):
About the role of counseling in terms of trying to be preemptive or preparatory for clients in a way. And I, I must say that I, I, I, I think my style is to more respond to their questions rather than putting something on their plate, so to speak, without necessarily getting their permission for that. Mm-Hmm. or thinking that they might need it. Sometimes I ask them, I ask people if they need further information to come back to me. Sometimes I provide some written information. Sometimes people do ask questions, but oftentimes they leave and then I might see them, you know, at follow up with a neurologist sometime down the track, but mm-hmm. <Affirmative> and, and new things have happened and they might have questions about them, but I don't, I don't tend to have a, an open, you know, full frontal, I suppose, discussion about hd. I don't initiate that on my own. I try and see where they're up to and go from where they're up to and what I see as what their needs are at that time. Does that make sense? Yes.
Matt Burgess (30:53):
Yes. Yeah. And, you know, I'm kind of sitting here listening to what you're saying and sort of your style and, you know, how you work with people and sort of comparing and contrasting to, to what I do. And it sort of reminded me of how in genetics we're seen as the gatekeepers and that it's almost like people need to play by our rules to, to get the test or get what they want. And, you know, sometimes people go and see their GP and they say, oh, I want the test for Huntington Disease, and the GP tries to order it. And you know, in Australia, gps aren't aren't allowed or they can't order the genetic test for Huntington Disease. And as a community, we, we say that people need to have genetic counseling. And I feel like, you know, on one hand I kind of wanna bring up these issues with people when I'm talking to them and, you know, to have a, a facilitated discussion. But, you know, is that for my benefit, you know, is, is that helping prepare the client and are they just participating in that conversation? Cause they think shit like, I just have to answer Matt's questions or is not gonna let me have the test. Mm-Hmm.
John Conaghan (32:08):
<Affirmative>. Yeah. Yeah. I, I think you raise lots of ethical issues there. And I, I suppose one of the guiding lights of my practice is that this test, you know, should be provided within the recommended safeguards, but it is a piece of health information that belongs to them and no one else. And they should have a right to that information without unnecessary burden or imposition put upon them. And I, despite recommendations being there, which are helpful, at times, I try and downplay the role of the need for counseling and, and express to people that one of the essential roles of pretest counseling for me at least, is to sort of get to know the person and get to meet them because, as well as explain things to people about what the test does and, and, and what it measures and how it's interpreted.
(33:09):
So they've got full information when they get a result. But to, to sort of create that working relationship with people that enables them hopefully to feel some degree of, degree of comfort or if you could ever say you feel comfort going through a genetic test, but that, that they feel that they're behind the driving wheel mm-hmm. <Affirmative> about how they're gonna go through the test. So I try and provide options for them, options about when they're gonna have blood taken, when they're gonna get their result, they don't wanna have the result, then, you know, they can choose a time that's better for them. Yeah. So, you know, even when they don't feel there's options available, I, I try and create them for them, you know, in terms of like bringing, bringing a support person along, you know, the recommendations say that, you know, there's a benefit for bringing a support person along, and that may be true for a lot of people, but it's not necessarily true for all people. Mm. and, and so I, I don't, you know, I avoid trying to get into any you know, the recommendations say blah, blah, blah, so this is what we should do, blah, blah, blah. Yeah. I give it as a choice and I respect the people's choice that they make or the person's choice they make at any particular time.
Matt Burgess (34:36):
So really patient-centered care,
John Conaghan (34:40):
Well, I, I endeavor to be that way as much as possible and, and to give them some self-determination in the whole process, which I think is important based on, you know, the, the guiding lights of social work and what we stand for as social workers.
Matt Burgess (35:00):
And this morning, I, I was a little bit flustered when I started this podcast. I, I really hate being late, and I actually left the house early this morning. I thought I'd get there, get to the studio with plenty of time to spare and, and go through my notes. And I was sort of two thirds of the way to the studio, and I realized I'd forgotten my mobile phone. And I don't know your phone number, your phone number's in my phone. I, I need my phone to do this podcast. And I thought, oh, I, I need to go home. And, you know, I can't even remember the last time I left home without my phone. Like, as I closed the door, I always, you know, do this check of my pockets. Like, do I have my wallet? Do I have my keys?
(35:44):
Do I have my phone? And for whatever reason this morning, I, I just didn't do that. And I, I was driving, it kind of made me think of people going through the process of testing for a disease like Huntington's Disease because it does have that sort of cognitive component, like all of us forget you know, items sometimes, or we all walk into a room and dunno why we've got in there, or we go to the shops and for, you know, forget what we needed to buy mm-hmm. <Affirmative>. But for most of us, it's like, oh, you know, that was pretty silly. And we kind of get on with life. But, you know, with people with Huntington Disease I know that they would do something like that and think, oh my God, is this the first symptom? Is, is this the start of it? And is that something like when you are sort of talking with people at risk, do they sort of talk about being worried about what symptoms they, they've got?
John Conaghan (36:50):
Yeah, no, I think it's a, yeah, it's a very pertinent point that you make that people with Huntington's disease are almost hypervigilant in relation to symptoms or signs that they see or experience. And, you know, I, I've had people bring in mobile phone recordings of, you know, sort of some type of involuntary movement of people's hands or fingers or toes, and people telling me different aspects of what they've experienced. Like I met a person once who was a, was a writer, and the person said to me that they, they'd almost, that they'd lost their ability to, to write. And so worried were they, that they, they felt that this, this seeming loss of skill was associated with, with Huntington's disease. And oftentimes not just one symptom, they, they, people often can talk about being a bit more grumpy being sort of more impatient and dropping things.
(38:12):
And I I must say I'm at one when I listen to these stories. I suppose there's one part of me that identifies or with their concern for themselves and, and, and feels a degree of empathy or sadness for where the position they're coming from. But I, I, I'm also very careful as well that that just simply being at risk for HD can be such, or, or provide such a disturbing psychological experience for someone that it can create signs and symptoms that resemble Huntington's disease. Just living with being at risk of hd mm is an uncomfortable, subjective experience. I am very, very careful, particularly careful and I'll highlight that for not to you know, I empathize with people about their concern that they have themselves at that particular time. But I never, ever say to someone that you know, it, it, it, it sounds like that those symptoms are, they may be hd, like, but I, I, I'm not, it's not my role to confirm whether those symptoms are that they're experiencing are in fact hd or not.
(39:54):
Mm-Hmm. <affirmative>. And very often what's often happened is that the people who have been most anxious, if I could use that word, are anxious about the manifestation of these, what what they're noticing in themselves quite often don't have the gene. Mm. But what, what we are seeing is that, you know, just, you know, just the difficulty living with this condition that sort of follows you around like a cloud on over the, over your shoulder, everywhere you walk, and how it sort of infiltrates into every moment of one's life. It just, you know, feels like it just never goes away. And I think for that reason for that very reason, people in the end decide, well, it's better for me to know one way or the other because not knowing is just so damn cruel to me and, and to the people around me that it's just better to know.
(40:56):
And if I do have it you know, I can adjust and learn to live with this and, you know, be in a position, as I said earlier, to plan for my life. And if I don't, well wacko I'm doing all this unnecessary wasting of energy and just this terrible contortion that it can have being at risk on a person's life Mm. Not having to worry about that anymore. So I think it's a very pertinent point that people at risk of Huntington's disease do, or very sensitive to things that they perceive as being to hd not concentrating, not being able to concentrate reading a book, not following a movie properly, or forgetting someone's name or birthday or dropping things or tripping over that, you know, the concrete in the footpath. Yeah.
Matt Burgess (41:53):
Which is all stuff that we
John Conaghan (41:54):
Do, what have you. Absolutely.
Matt Burgess (41:57):
Yeah. But then
John Conaghan (41:58):
Absolutely,
Matt Burgess (41:59):
Sort of on the other hand, a really interesting and fascinating part of this condition is sometimes or a, a lot of the time when, when people are in the early you know, si of early stages of, of the condition one symptom that we see often is that they have this lack of insight that something that may be obvious to everybody else in the room, the person who is sort of starting to show symptoms can't actually see that themselves. Yes. And you know, like you, you kind of mentioned that pe some people with Huntington disease or one of the symptoms as kind of involuntary movements and, and people can have these movements but not be aware of them and Sure, sure. It's just, it's a fascinating condition.
John Conaghan (42:51):
Yeah. And, and it, it's very interesting. And, and, and, and you're right, what you say that in you know, probably a majority of people with Huntington's disease, they, they sometimes yeah, just unaware of, of, of the, the manifestation of the condition in them. I, I often sort of use the the metaphor that Huntington's disease has this sort of insidious onset where you don't, you're not aware of it. A bit like going to sleep in the middle of winter or sometimes summer, but, and then waking up and, and there's a fog outside. But overnight, the fogs come down, but no one, no one ever knew or was aware of it through the night. Mm-Hmm. <affirmative>, there were no sort of warnings or anything. But when you wake up, you can't, you know, or you can barely see across the road. And you know, things are sort of heed in a little bit, but I, I think that's the closest analogy I can think of that that just comes without warning for some people.
(44:06):
Mm. But you, you, you as well probably may have had people come to you who are already manifesting or showing signs, you know, like physical signs, involuntary movements are, are quite quite obvious to anyone else at times mm-hmm. <Affirmative> for a genetic test. And, you know, I know when genetic testing first became available, that those people were thought to be unsuitable for testing because it was deemed that they weren't in the correct psychological place to receive genetic test information. But I often thought that was a very cruel thing a cruel response for people because it was thought that they were in denial. Mm. Yet it, it wasn't at all, it was more a function to do with the way the disease was progressing within the people in the person themselves. Mm-Hmm.
Matt Burgess (45:13):
<Affirmative>
John Conaghan (45:14):
And, and, and, and the question that they were asking wasn't about whether they had Huntington's disease or not. The question they were asking was whether I had the gene or not. And, you know, people progress in all sorts of ways through this condition progress psychologically. I mean, and I had always respected the way that people did that. And I, I think it's important that we you know, we, we pay homage to how people do present to us sometimes. And, and not being necessarily judgmental about the psychological space that they may be inhabiting in terms of having symptoms and not their inability to recognize those symptoms as being a flaw in their psychological makeup. Because, you know, eventually I do encourage people to go and see a neurologist, and no doubt the neurologist will on examination, tell the person that they, that, that the neurologist believes they have some, some signs of HG already. So it's a process and one that we need to be treated carefully and I think pay the highest amount of respect that we can to people in a position that they find themselves, they need to be treated with respect and dignity.
Matt Burgess (46:43):
Definitely. Yep. No, I agree. I, I'm just looking at the time. I, I, I'm really grateful for this discussion and I you know, I don't wanna keep you all day and I'm, I'm looking at my notes and I still have sort of half a page, but I just thought maybe the last thing to the, you know, that I'd like to sort of discuss was, you know, we sort of talked about how Huntington disease is a dominant condition. So when an affected parent has children, their children are at a 50% risk. What do you think about testing someone who's at 25% risk? It, it's something that I, I've been involved with a little bit, and I always find that it's a really difficult situation. Is that something that you have come across a lot yourself in, in your practice?
John Conaghan (47:37):
Certainly Matt, not, not, no. I wouldn't say a lot necessarily, but certainly have had to, to do with situations like that. I suppose the, I'll just start on the, what I see is the policy framework around, or the, the, the guidelines and the framework that they provide in dealing with this situation. You know, we live in a a sort of a, a neoliberals society, which acknowledges the rights of the individual very highly. And the recommendations sort of reflect this in a sense by allowing people at 25% risk to find out or to ascertain the information that pertains to them irrespective of whether they're their parent who is at 50% risk, as you say, has determined their genetic status already. I suppose the way that I tend tend to deal with it is I do encourage people to to talk to their parent, their parent who, who's at risk of Huntington's disease about this, but that, that raises a whole heap of other dilemmas as well, because a, it somehow impinges upon that person's right to have a test with some degree of privacy.
(49:03):
Mm-Hmm. <affirmative> it, it, it sort of you know, am I asking the person to do something that they might not normally consider doing in the sense that there might be some estrangement within the relationship between the mother, the, the, between the, you know, the offspring and their parent. So it, it's, it's, it's a dilemma. And because as you know, that the likelihood of 25% at risk person, you know, that is an offspring of a 50% at risk person finding out that they have the gene the genetic test result tells us information about, not only about the person who's having the test, but also their parent mm-hmm. <Affirmative>. And so how do we deal with that which is the conundrum. And and I must admit that I, I, I suppose I, to some extent, I go along with how people, you know, how, how what the state of relationship is between their, them and their parent is at that time.
(50:31):
And if for some reason there's some estrangement I feel like I, I'm asking an unreasonable amount of them to, to, to talk to a parent and who they haven't related to for some time. It's not always the case though, you know, sometimes people come and they get on well with their parent and they discuss that their wish to find out, and the parent has given that person their willingness or consent to find out their information and and, and they're happy to find out what their result is. Other times they say, look, you know, you find out the result for yourself, but you don't have to tell me, I don't want you to tell me what your result is if you've got the gene. But then again, it, it becomes more convoluted because if they don't tell them what the result is it, it almost means that they know what the result is because they haven't told them.
Matt Burgess (51:29):
That's it. And I, I don't
John Conaghan (51:31):
Know how you manage this either, but it, it is a, it is a conundrum
Matt Burgess (51:35):
And I, I kind of think in my family, like, you know, I, I don't have a family history of Huntington disease, but would I be able to keep a, a secret like that? Or, you know mm-hmm. Would, you know, in the families that kind of say, oh yes, you know, I can have testing and it will be simple for me not to tell mom or dad what my result is. And I just think, I don't know if that's possible. You know, like if you are really upset for, for a few weeks, you know, don't you think your parents are gonna kind of figure that out or yeah, exactly. I just think this, this horrible condition really brings up a lot of of interest in genetic counseling sort of issues. And I've been
John Conaghan (52:25):
Absolutely
Matt Burgess (52:26):
Really grateful that I've been able to talk and sort of explore and go through some of those things with you today. So thank you, John.
John Conaghan (52:36):
Been a pleasure. Matt, thank you very much for having me on the show. And wish, wish you and your listeners all the best.
Matt Burgess (52:43):
So I, I think that you've got this beautiful, calm and gentle and sort of kind way and you know, I, I think that your, your clients are, would be really lucky to, to have you on their journey. So thank you, and I'll let you go and hope you enjoy the rest of your day.
John Conaghan (53:04):
Yeah, Matt, all the best. Thank you for your kind words and, and all the best to you.
Matt Burgess (53:08):
Okay, thanks John. Bye-Bye.
John Conaghan (53:10):
Bye. Matt,
Matt Burgess (53:12):
As always you can find more information about our discussion today about Huntington's Disease on my website. I'll have a fact sheet and that's at Insight Genomic a.com au slash podcasts.