Demystifying Genetics
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au
Sponsored by TrakGene
www.trakgene.com
Demystifying Genetics
Demystifying Genetics with Kathy Langley
Kathy Langley opens up about her family's struggles with Huntington disease, sharing her personal journey from the silent pain of knowing her father's condition to advocating for awareness and support in the community. She highlights the emotional complexities surrounding genetic testing decisions and the need for improved education on HD within the healthcare sector.
• Kathy’s early experiences with her father's HD symptoms
• The emotional impact of discussing HD in the family
• The dilemma of wanting children while facing genetic risks
• Insights into the testing process and its psychological effects
• The role of stigma and the importance of awareness
• Advocacy for education on HD for medical professionals
• Support mechanisms for families affected by HD
• Kathy’s efforts to raise awareness through social media
Demystifying Genetics is sponsored by TrakGene
https://www.trakgene.com/
Hi, my name is Matt Burgess and I am the host of Demystifying Genetics. I am a genetic counsellor with over 20 years clinical experience. In this podcast, I speak with guests about genetic conditions that they may treat as clinicians or that they may have a more personal connection with. Today, my guest is Cathy Langley. Her father died from Huntington disease. Join me for a conversation where Cathy discusses HD in more detail and the issues surrounding pre-symptomatic testing for this late onset neurological condition. Hello, cathy, and welcome to the Demystifying Genetics podcast.
Kathy Langley:Thank you, I'm happy to be here.
Matt Burgess:Now I connected with you on LinkedIn a few months ago and I saw that you were posting a lot about Huntington disease, and Huntington disease is obviously something sort of close to to you. Um, can you tell me, when you're talking about Huntington disease, how do you sort of describe it to someone who doesn't know what it is or who have never heard of it before?
Kathy Langley:um, I can only describe it as pretty much as it was described and it's rare. A rare disease, genetic, neurological, and is fatal, no cure, and all children born to an affected parent someone's got HD have got a 50% chance of inheriting it as well.
Matt Burgess:Okay, yeah, no, it sounds like a terrible condition.
Kathy Langley:It is.
Matt Burgess:Yeah, so you have quite a strong family history of Huntington disease. Yeah, can you tell me sort of more about how you realised that you were part of a HD family?
Kathy Langley:You know it's funny. It was in the adult years I was told about it, but in hindsight I could see I've known something was there for a long, long time. But it was when I was thinking of extending my family that my mother decided she better this was after we had lost dad, that my mother decided she better this was after we had lost dad that she um asked me to sit down so she could tell me why I shouldn't extend my family.
Matt Burgess:Oh, okay, so you.
Kathy Langley:You knew so, your dad had Huntington disease yes, my dad had it and he got it from his mum and it went back further.
Matt Burgess:Okay. So then he passed away, but you had a husband and you were thinking of children, and then your mum sort of sat you down to warn you not to have children. Was that what?
Kathy Langley:Yeah, she was. It was dumped in her head and that's the words she used by the specialised doctors and that the only way of stamping out Huntington's disease is to stop having children.
Speaker 3:Okay.
Kathy Langley:And that's exactly what she said to me.
Speaker 3:Yeah.
Kathy Langley:And it wasn't until later, much later, that the testing became available.
Matt Burgess:Okay, much later that the testing became available. Okay, so how? What was it like to hear your mum saying you know, love, I don't think you should have any children well, I have to say.
Kathy Langley:First, mum never called me love, but um no for her to even ask me to sit down. She had something to tell me. I knew that that was something serious.
Speaker 3:Yeah.
Kathy Langley:Because she wasn't in the habit of doing that. So just from the word go I knew, okay, what she's going to be telling me is something serious. So I listened to her and I said, okay, thank you. I said okay, thank you. She had known, they had known the extent of it about the time my dad was, yeah, hospitalised or whatever. But they didn't tell me because they wanted to protect me, because I had children already. But what that did was made me decide no more children, no more Okay.
Kathy Langley:I've got my children. I don't need any more.
Speaker 3:Yeah.
Kathy Langley:And I took it on board seriously and then, when testing became available years later, then I had the test.
Matt Burgess:Okay, and do you think that your mum had the same conversation to your brothers and sisters?
Kathy Langley:I think she was a little bit more sceptical in having a word with them because at one point she did try to raise awareness herself and family made it quite clear they did not want that happening.
Speaker 3:Yeah.
Kathy Langley:And so because mum, because she was she, miss Dad, it was like she relied more on her children to be there for her and she wasn't going to do anything after that. She wasn't going to do or say anything that might, you know, upset the apple cart, so to speak.
Speaker 3:Yeah.
Kathy Langley:The sister, my first person that died after Dad. Yeah, she was aware and I think if anyone was able, if Mum was able to talk with anyone, it would have been her. But um, um, other than that, I think she just relied on the, um her children to be able to tell their prospective partners yeah, okay, because how old was your dad when he passed away? Um 40. I know I should know this apart, but it was 40, 45 or 48, wow, okay so mid 40s so yeah, yeah yeah, very young.
Matt Burgess:Yeah, I know sort of in the textbooks when we read about huntington disease they say sort of the average age of onset is sort of 30s or 40s, but it can sort of start much younger or symptoms can start much older. Do you remember a time where your dad was sort of normal or?
Kathy Langley:oh, yes, yes he changed a lot, which is why I can look back and think, yeah, okay, he was becoming symptomatic when I was younger I was maybe 15 when I think back to how we started changing.
Speaker 3:Yeah.
Kathy Langley:And it was no longer the happy-go-lucky person. No longer the happy-go-lucky person. But what happened is and I think you'll find a lot of families that think this way you put it down a lot to work problems, daily stresses in life, because it was like it just became more serious and moody, depressed. But it was such a gradual process at the beginning.
Matt Burgess:Yeah, I guess it sort of would happen so slowly that if you're living through it you may not notice it, but sort of in hindsight it's sort of much clearer.
Kathy Langley:Oh, yes, for sure.
Matt Burgess:Yeah, when I sort of describe Huntington disease, you know, sometimes I say you know it's sort of like a combination of Alzheimer's and dementia and Parkinson's. Yeah.
Kathy Langley:The word is ALS, parkinson's and Alzheimer's, all symptomatically so, all together, yeah, and it was years ago classed as a devil disease.
Speaker 3:Yeah.
Kathy Langley:So yes, all that is true.
Matt Burgess:So I mean, it sounds like you saw your dad's personality change in and sort of his mood. Did he have any of the more sort of physical features of the disease as well?
Kathy Langley:Not till later. He wasn't jerking in like a drunk, so to speak, which is one of the things I say. The jerking can make you look like you're drunk.
Speaker 3:Yeah.
Kathy Langley:He didn't. There wasn't jerking, but not severely. Not in the no not as long as I can remember okay.
Matt Burgess:So do you think he sort of had awareness that maybe he was affected with the condition?
Kathy Langley:that was in his family. Yes, yeah um, they all do. I believe they all do, certainly in my family. It's one of the things that frustrates them, gets them angry. The thought of suicide can be there in place. There's many here that will think in suicide.
Speaker 3:Yeah.
Kathy Langley:So it's, and especially when they've witnessed before. If you're going to hear something that you've been diagnosed and you haven't seen it before, then you might be less likely to get worked up about it, but when you have witnessed before it can be frightening.
Matt Burgess:Yeah, I think that's a really good point because I know when I was sort of helping people through the testing process, it definitely was different, for, you know, there were some people that were requesting testing that had never sort of met anyone or seen anyone with Huntington's disease, yeah, and sort of I felt sort of like an obligation or you know, it was really hard because, yeah, it's like they didn't really appreciate or really have an understanding of what we were testing them for, whereas there were other people where you know, they had seen many, many family members sort of get the disease and then pass away and I felt like they really sort of got it.
Kathy Langley:Yeah, yeah, it's, yeah, yeah. From what I've learnt to more recently, because I've done my own research, is there are still a lot of families out there who are unaware of it existing, who have been unaware until someone's in the family has been diagnosed, and that too, that can cause so much hurt and feeling let down by the family that they're married into or whatever.
Matt Burgess:You know that's got this disease, so the potential for sort of like regret or anger, or yeah, that's difficult.
Kathy Langley:I remember when I learned the extent of it and I told my husband, he was like, well, I should have known about this. And I said, well, it's all right, I probably should have too. But I didn't, so I couldn't tell you, but he handled it well.
Speaker 3:Okay.
Kathy Langley:But not all of them do. I'll give you an example. Um in one of the researches I did um someone told me that they weren't informed anything about it until a week before he got married.
Matt Burgess:Oh, and he said he felt trapped, like he had no choice to get married yeah you know, so I guess, on that point and this is something that I I do discuss with young people, um, that are presenting for testing for huntington disease when do you think is a good time to to tell someone like you know, is it too early to say on the first date or, you know, do you wait until you get?
Speaker 3:like it's a very difficult thing to sort of work out, isn't it?
Kathy Langley:oh geez, I've only just recently started sharing videos of such a thing. Um, I came across a video of um, a man who was about to tell his partner, the lady he was seeing, and he was talking about the concerns and how she's going to react and all this sort of thing, and I could only imagine it. You know, yeah, like he said, it was hard. Are they going to walk out and leave me? You know, no longer want me in their life? And he said that she accepted it. And then she looked into it a bit more and met his family, his father having it, and it really shook her, but she still went ahead. But what they also did was make them think, really think, about children. Yeah, they wanted children, but how are they going to do it? And so that goes on to another situation of deciding how to have children without them um being affected uh-huh yeah it's so you're sort of involved with?
Matt Burgess:um, you know different people and in the huntington disease community do you find that the young people are talking about how to have children and how to have unaffected children?
Kathy Langley:um, I'm not seeing it that much in Australia, to be honest with you. You might, but I don't. I hear in America, for example, where there's more of it, that they are looking at options. You know other options, ways of doing it, you know allowing it to happen, how and all that. But yeah, so there's more thought going into it, but not a lot here. I don't think.
Matt Burgess:That's just what I've seen yeah, I guess, just for the listeners sake. Um, there are ivf techniques that people can use to create a number of embryos and to test the embryos and then just implant the unaffected ones.
Kathy Langley:Yeah, well, this is what this chap was saying. They got into that and he said that you've got to be so prepared because he said he felt so guilty watching his wife go through all the I think it was four or five times that she kept on having to go back and try, each of them having that gene.
Speaker 3:Yeah.
Kathy Langley:They had to keep on trying. And he said and the money is incredible. The cost is incredible.
Matt Burgess:Well, it's like it's stressful, it's expensive. You know it's time consuming. You need to take time off work. Yeah, you know it's not the most romantic way to make a baby no, but you know, some people think that all of that is worth it to be able to stop this horrible disease from being passed on.
Kathy Langley:It's not an easy decision the thing is, he said, though not everyone can afford to do that cost wise, um, mentally, you name it, you're just not everyone's able to do it exactly right, yeah and they were in good mind spaces with both of them and he said it was a that was hard on them yeah, yeah.
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Kathy Langley:Well, that's why I'm talking about it, because I don't agree with it. There's too many people hurt in the long term. I've seen too much hurt with not just my family, but I know of other families who have. It's taken them really down to a terrible place, you know. And children, the children that get affected they're traumatised with what they witness sometimes and so and I can see how how, um, yeah, families are broken up. That can split families, um, and I thought you know what. I've had enough of this uh-huh um, and that was the truth.
Kathy Langley:I just thought I'd have enough of this and I'm going to do what? Continue on what with what mum had started all those years ago and um and raise awareness. But it started in a. Really, it wasn't me going out deliberately to do it, it just the way it fell into place. Um, it just sort of, yeah, it just felt right for me to go as I am now, which is, um, I was going to write a story and have that published about the, the disease itself, but I thought, no, no, it doesn't feel right, I've got to make noise somehow elsewise. And so that's how I got into it um, emailing everywhere.
Kathy Langley:And, yeah, I started off doing some talks with Rotary Clubs uh-huh but I felt I wasn't getting heard enough yeah and it wasn't good for me to keep on, you know, and feeling like I wasn't being heard enough, and um. So then I decided, okay, I'll look into the social media uh-huh and that's when things started happening okay.
Matt Burgess:So you, you sort of been posting about it and then people are sort of reacting and picking up on that.
Kathy Langley:Yeah, yes, so not all social medias, but one in particular. That, I think, has been good.
Speaker 3:Yeah, oh good.
Matt Burgess:And so when you like. So the gene was sort of like. You know, they've known about Huntington disease for many, many, many years. And then you, you know, our genetic testing knowledge sort of got much better in the 80s and 90s and then they sort of isolated the gene and were able to offer testing to unaffected people, I think from the mid-90s onwards. Um, how long had you been sort of thinking about testing before you were able to have a test?
Kathy Langley:It was because testing wasn't even a thought of. I don't think. Well, it was. I didn't hear about it, put it that way. So I think when it became available, I knew straight off that I was going to have to have it. But, I was in a position where I couldn't have it straight away. I was living far away from the testing place. I thought it could happen, but I'd say it was. I don't know, I'm just guessing it was months a year.
Speaker 3:Okay.
Kathy Langley:So yeah, I did as soon as as I could. We'll put it that way. To me it was just a normal, the natural thing to do. It's not for everyone, but it was for me.
Matt Burgess:Perhaps instinctively, I knew that I was okay okay, you think you sort of knew on some level that you maybe you were negative yeah yeah yeah, I did.
Kathy Langley:It was early on the morning that I was getting my results. I thought, oh, what if I'm not? What if I'm not?
Matt Burgess:and do you think that the, the counselling process, or the, the testing process um sort of helped you like with those kind of thoughts, or do you think that the testing process was a little bit too prescribed? Oh, are you there?
Kathy Langley:Yeah, I don't know what happened there Testing the cancelling. No, at first I thought oh my gosh, because she told me it'd be six months of cancelling. I thought oh my gosh, and she said you will get no results until that's done yeah and um, it was like oh and anyway, I accepted it and it changed my thinking.
Kathy Langley:To be honest with you, uh-huh, at the very beginning I thought I had to sacrifice my life to be there for my family, hands-on all the time, yeah, and by the time that we finished the counselling, I just knew that I had my own family, my own life, my own problems, and so I knew that I had to address that but help where I could otherwise.
Speaker 3:Yeah.
Kathy Langley:And because I didn't live close to them initially, it was a lot of phone calls.
Speaker 3:Uh-huh.
Kathy Langley:And, in all honesty, I think it worked out better that way, because mum, for instance, would ring me and I'd be the one to hear her what she had to say about the whole thing, and likewise for my siblings.
Speaker 3:Uh-huh.
Kathy Langley:It gave them a chance to be able to, you know, ring me or I'd ring them and you know we'd be able to talk it all out.
Speaker 3:Yeah.
Kathy Langley:So it worked out well for us, I think.
Matt Burgess:Okay, because I know when the test became available and people were able to sort of access genetic testing to see whether they were going to develop Huntington disease or not, the, the idea or the thought was that everyone who was at risk, would you know, line up and sign up. But um, what we've kind of seen is, you know, most people choose not to have testing. Does that surprise you?
Kathy Langley:no no no, because I know it's happened in my family, but without going there too much. Um, I'm reading about it in other families and um, I've even been told that they have gone for the test but they haven't gone back for the result because suddenly they're too scared. You know, and I understand that completely, I told you the morning I was going to find out the results. I was like, oh what if I'm positive?
Speaker 3:Yeah.
Kathy Langley:And then I thought, oh well, I had kind of thought, yeah, okay, this is what I'll do if I test positive. When it comes to the reality of it, you know it was a bit scary.
Speaker 3:Yeah.
Kathy Langley:So I understand how they feel. But there's also and this I can't answer for is I'm not in that position and never been really in that position, and so how can I think like them? But I sort of think, maybe if you're new you can rest easily or you deal with it in the best way you can.
Kathy Langley:But I don't know what it is, but just a lot of fear. And yes, it has been said about the insurance side of things, but how many that is vectored that way, I wouldn't know. But yeah, it's a lot of fear. And I was talking with someone the other day who's actually dealing with a family member, a non-blood family member, in fact I've talked to a couple of them and one was saying not to even mention it in the household, it's bad Okay. Saying not even mention it in the household, it's it's bad okay. And that person's having trouble dealing with it because, um, he can see it standing a mile. All I could do is advise him who to contact, you know, if he needs to talk to someone who's closer to it yeah to me um, it is, yeah, it's all.
Kathy Langley:It's all a concern, which is why I'm trying to turn things around a little bit, change, make change by getting emailing politics and that sort of thing, emailing the politicians, that I can and, like I know, in our genetic counseling training we learn about huntington disease.
Matt Burgess:So even though hd is rare as a genetic condition, it's sort of one of the most common genetic conditions and genetic counselors and the genetics doctors definitely know a lot about h HD. But what do you think about the level of knowledge of Huntington disease in in the rest of the medical community?
Speaker 3:people just don't know about it no that's where I'm saying we need education yeah.
Kathy Langley:I'm really pushing that strongly. I even asked my own doctor some time ago um, do you know huntington's disease? He said yes, but I don't know what symptoms to look for. Yeah, and I said, oh seriously, um, anyway. So I approached the the reception at that particular clinic and asked if I was to give them some information, would she share it with all the doctors so they could learn about it?
Speaker 3:Uh-huh.
Kathy Langley:And she said yes, definitely.
Matt Burgess:So yeah, so the receptionist was able to share the information with all of the doctors.
Kathy Langley:Yes, yes, she did, and they all learned a lot, apparently.
Matt Burgess:Oh good, and what reception. How well have you gone with sharing this information with politicians?
Kathy Langley:There's probably very few that I haven't shared it with Uh-huh, but a political adviser has seen me on LinkedIn I'll mention that name and he's approached me and so he said the awareness is vital and now that they've got me talking, that's going to help a lot in getting further.
Speaker 3:Yeah.
Kathy Langley:So he said it is very important we get the awareness out as much as possible, because even those that we approach may not have heard about it and may not know the extent of it. So this is where I have still got to step in and give my experience and see what comes from that.
Speaker 3:Yeah.
Kathy Langley:But it's good to know that he's there. He's made it clear I can get in touch with him any time and update him with anything and hopefully we can get somewhere. In the meantime. I am like I'm talking with you. I've got another podcast coming up next month and that's being done by someone who was a nurse and is an educator now and she's very keen to get it going.
Matt Burgess:Wow, you're a busy lady, yeah, and you know. I know we were talking sort of off air a little bit before. You mentioned that you wrote a book. Yeah, and I guess when I heard that you had written a book, I thought it was to educate other people, but you sort of explained that it was more something that you wanted to do for yourself and for your family, that's right. Can you tell me a little bit more about your book?
Kathy Langley:Yeah, sure, it was a book that had nothing to do with HD whatsoever, but in looking into it, was a book for my mother's birthday.
Speaker 3:Uh-huh.
Kathy Langley:We got pretty much all her story out when she passed and I sort of looked at it and I thought, well, thank goodness I managed to get what I could, you know, learn from her about her family. And then I started thinking about things and I thought, well, I'll go into Dad's family a little bit more because she married him, and that led me down a complete different path.
Speaker 3:Yes.
Kathy Langley:That led me into hunting for the disease in a good and proper way, and I got so much information from doing that because I just the curiosity in me just got to a point where I had to keep following up until I got the answers I wanted.
Speaker 3:Uh-huh.
Kathy Langley:And so I had researched through death certificates, hospital files, cemeteries, you name it Trove newspaper. That was a good one, because you go back in time with that, and then I sort of put a lot of these. It's like a huge jigsaw puzzle. I'm putting all the pieces together. And then I remembered we've got some step family elsewhere. So I contacted them and I got some answers there and I was wrecked. You know what I learned from that? It's the importance of looking into family history.
Matt Burgess:Okay.
Kathy Langley:That was the big learning thing there. That's another thing I forgot to mention the war notices, because when you've lost people, we don't know whether we've lost them to war or or whatever. Yeah, what I found was some did go to war, they did come back with injuries and that, but their actual um, they were later diagnosed so so their the family history was is huge so when you say the importance of the family history, do you mean that it's important for younger people or younger generations to find out and talk about the conditions in their family?
Matt Burgess:Is that sort of what you mean?
Kathy Langley:Yeah, but it's not just Huntington's disease. You can look in your family history and you can learn other things that could be. You know, the genetics could be in your blood, sort of thing. You know, uh-huh, heart phase cancers, anything like that can be handy for anyone. In this case, my case, it was HD and it told me um, who had it, how common, how, how many had it? Um, and how, especially when they're in the hospital. It talked about the hospital files, talked about their um day-to-day activities, behaviors, um, mood, all that sort of thing. It gets very in-depth because they're monitored every day and it was through that I learned just how my grandmother died and you know they're just so good to get into. You know, especially if you think that there's a possibility of some disease like Huntington's you know, yeah, there's a possibility of it then check it out, you know, don't be too scared yeah, okay and and how do you think we can support our like the people that are caring for people with Huntington disease?
Matt Burgess:like it's such a a hard, terrible, nasty condition and but people that are affected, especially sort of in the later stages, do need a lot of care and support and that must be incredibly difficult.
Kathy Langley:Yes, and I've heard a few stories about that too, um, so what I would like and I have mentioned this, to have said this to the politicians is um education for all who are supporting families the, the individuals and their families. I'm talking about healthcare, I'm talking about social service, I'm talking about anyone in those areas who are likely to be supporting Huntington's disease people and their families, and I'm also aware that they're going to be um. There's different, different categories of where they're likely to be um, educated, like to be caring for them. There'll be some that have been a more severe, there'll be some that have been not, not as severe, and that's where I've suggested well, how about you have focus? It's on the area where they work, how about they assist in, how much are they trained with it, how much are they educated? You know, but everyone needs to have an online access to education in some form.
Kathy Langley:Everyone so it education in some form, uh-huh Everyone, so it's in those areas, and I also think it's very important that family are aware that that's been done so they can feel better about it too, because so many have told me about their concerns about the lack of education.
Kathy Langley:Yeah, like people just not knowing or never heard of the condition yeah, yeah, I also see that, if it can start from the main ones, um, go through more like teachers for the children, you know, the students who go to school, who are living with this at home, for the teachers to have an understanding of it, you know. So it all flow on. That's my, my plan, my goal excellent.
Matt Burgess:Well, congratulations on working um towards that goal and thank you for your time tonight. Was there anything else before we finish up that maybe you wanted to to say that we haven't sort of mentioned, or do you think we've covered most of the things you wanted to say?
Kathy Langley:I think we've covered much. Just say I'm trying hard.
Matt Burgess:Well, I think you're doing a great job and, yeah, I'm grateful, or I'm happy, that I'm able to help in my little way myself. Thank you. Yeah well, thank you for your time and I wish you all the best with raising awareness about Huntington disease.
Kathy Langley:No worries. Thank you very much for having me, and I appreciate it.
Matt Burgess:Okay, thanks, cathy, bye, bye, bye, bye.
