My dad, his ‘incurable’ disease, and hope at last

0:00This is The Guardian.

0:09Today, finally, a treatment for one of the cruelest diseases.

0:23You ready then, Josh? Should we do this? Let's do it. This is Josh Holliday. He's The Guardian's North of England editor. My old job. I've known him since he moved up to join my team. We hit it off straight away. Always the first on the dance floor at the newsroom Christmas parties. Once we turned up in London with Gallagher Brothers masks and DJed a set of Northern classics. No Southern sissies allowed. But behind the dance moves and the jokes, he had a secret. I hadn't really told anyone. Even my best friends didn't know about my dad. But that was one of the main reasons I wanted to leave London, to be closer to my dad.

1:00Josh's dad, Phil, has a devastating neurodegenerative disease, which for the past 17 years has been robbing him of his voice, his independence and his mobility. And Josh was terrified that he had it too. Birthdays were always a really tricky time for me. People celebrate you for that day, but it's a number that's going up. And for me, since I was 19, it was a number that was potentially getting closer to the end.

1:31You might not have heard of Huntington's. It's pretty rare. It's caused by a faulty gene which creates a protein that damages nerve cells in the brain, attacking the whole nervous system. Around 75 ,000 people have it in the UK, the US and Europe. But hundreds of thousands more carry the gene mutation that means one day they too will develop its harrowing symptoms. Josh was away at university when his dad was diagnosed. stop. It came mostly completely out of the blue. Looking back, maybe there were some signs that he had some of the psychological symptoms of it, which can be mood swings, depressive illness, but I didn't see any of the motor signs, jerky movements, involuntary movements.

2:20Huntington's presents like a mix of Parkinson's and dementia, and in its early stages, it can make people behave unpredictably, impulsively, sometimes unpleasantly. As it develops, patients struggle to swallow, their muscles spasm, and they can no longer talk or communicate. And there's never been a cure until now. Huntington's disease has been successfully treated for the first time, according to the results of a trial that has just been released. The trial was shown to slow the progress of the disease by 75%.

2:56The breakthrough is incredible news for everyone affected by this horrible disease. The word that people kept using was hope. For the first time there had been hope. From The Guardian, I'm Helen Pitt. Today in Focus, a family living in the shadow of Huntington's disease.

3:18can you start by telling us about your dad about phil what was he like when you were growing up yeah well my dad phil i mean he was every boy's little dream as a dad really i mean he loved absolutely loved football leeds united he liked going to the gym he was hard working he was playful he was strong macho he was a postman so he would be up every morning at four o 'clock going to work always wearing shorts you know whatever the weather and the smell of bacon sandwich just takes me back to being a little boy and my dad that's what he'd have after his shift every day bacon sandwich in a Mars bar and also I was walking down the street in Manchester the other day and I smelled a Marlborough classic cigar and that was what he used to have on holiday and it just grabbed me instantly so he was great yeah I looked up to him and he had a sort of secret private passion didn't he he did yeah I don't know why he kept it so private but he was a very talented watercolor painter and it didn't fit with his kind of macho profile you know the tattooed postman but he was fantastic there were a couple of paintings that took down the side of a dressing table in his bedroom that me and my brother used to go and have a quick look at when they didn't know we were doing that I don't know why he kept it private I wish he could have spoken about that a bit more but I loved that he had that side to him.

4:39And can you remember when you were told about his diagnosis how were you told the news and what did it mean to you as a 19 year old very young man? Yeah I mean I was at university at the time in my second year and I don't remember too much about it. I remember coming back home from Sunderland back to Bradford we must have been sat down with my mum, my dad, my brother, who was 16 at the time. And my mum just explained that my dad had been diagnosed with something called Huntington's disease, which I'd never heard of. We didn't know it was in our family. And my mum gave me a leaflet to take back home to Sunderland.

5:19But I don't remember too much about it, to be honest. All I can remember is putting it to the back of my mind and try not to think too much about it. And life was busy. So I just carried on. And do you know what prompted him to go and get tested? I don't know. No, really? You've never asked? It's quite difficult to talk about Huntington's disease within a family because it's so all consuming. It has so many different impacts on everyone in the family. So no, I'm not sure what prompted the test.

6:00How old was he when he got diagnosed? He was 52. Okay. And do you know when his symptoms started? We don't, but usually it's in your mid-30s to your 40s. So cruel, isn't it? So it could have been a decade earlier. So cruel, right, when you're in your prime. Absolutely. Yeah. And so by the time we became friends, so about 10 years ago, don't you remember, we were on a story together in Bradford, and we drove past a pub. I think your dad quite liked drinking in and you'd said that they'd refused to serve him because they thought he was drunk because of his movements and was it his slurring of speech tell me about that yeah that that was one of the most upsetting things about this disease is that it slowly takes away someone's ability to do the things that they love doing and my dad had just gone to the pub I think he'd had one drink and they refused to serve him another because they thought he was drunk and they made him leave.

6:53I mean I still feel quite upset about that to this day. It was heartbreaking but that is the timeline of someone who has Huntington's disease. Slowly they get their liberties and freedoms taken away from them. My dad's driving license being taken away from him felt like another big moment. And talk me through over the last 17 years since he got diagnosed how has the disease progressed in him well he's now a very advanced stage of it so right now he's lost the ability to walk talk feed himself do anything for himself it feels like it progresses quite quickly but I think that might be because as I was away all the time I was only coming back every few months yeah from my dad yeah from union then from work in London so I would noticed changes every single time his speech was diminishing yeah his movements were coming more jerky he was becoming more unsteady on his feet and then it's kind of a rapid decline from there it's just incredibly cruel it affects every single part of your ability to function and you know it's incredibly difficult for my mum obviously as um you know now as his full-time carer she had to give up work but that's how we saw the disease progress so your mum had to stop work to care for your dad how has it been for her my mum's incredibly strong stubborn as an ox you know she took those vows all those years ago 42 years ago when my mum and dad got married you know in sickness and in health and you know she carries on she's brilliant I would say she's not a natural carer.

8:35I think she would agree with that. Sorry Barbara if you're listening. But she's fantastic. She's full of love and loves my dad more than anything but it has been incredibly difficult. You know she's had to give up work. She had to give up most of her social life. She's told me that when my dad was first diagnosed she only told a couple of close friends. She didn't tell people because she didn't want to be seen as the Huntington's family and it's hard to talk about for her because you know it's her husband and she's now having to do things for him that you don't sign up for but also it's not just the effect of caring for my dad which is completely all-consuming for exhausting 24 hours a day and so many things can go wrong when you're caring for someone with Huntington's.

9:22You know, one of the cruelest aspects of it is that people with Huntington's disease, they usually don't die from Huntington's disease itself. It's either pneumonia or from choking when they can't swallow anymore because it robs the ability to process food. So she's constantly on tenterhooks with him constantly in my dad's side. It's been incredibly difficult for her.

9:57In the UK right now, it's estimated that between 6 ,000 and 10 ,000 people have Huntington's disease and 20 ,000 people carry this faulty gene. And it was only in 1993 when it was given a name and that scientists discovered this genetic link that anybody who had Huntington's had a 50-50 chance of passing it on to their kids. And how was the genetic element explained to you and your brother? I don't remember how the genetic element was explained. I assume we were told that we had a 50-50 chance of getting this disease ourselves. But, you know, as young people do, you kind of put it away and get on with your life.

10:35I was loving life at university, the social aspect, but also I was really driven in my course. I was desperate to be a journalist and channeled all my energy into that. but in the sort of quieter moments in the darker moments it creeps up on you and you can dwell on it and as I got into my 20s become more of an adult you start thinking a bit more about your future don't you and to be honest I began to feel that I definitely had Huntington's as a toss of a chance and I felt that I had it what made you think that so I felt I felt like I had the start of the physical symptoms and the psychological symptoms to be honest I felt like I I had low mood I had mood swings I felt I had involuntary movement to my fingers sometimes I felt off balance when I was walking and I really began to focus on it on these things and were you internalize this were you were you telling Helen your girlfriend now your wife I wouldn't really tell anyone I wouldn't tell anyone I wouldn't even really tell Helen I'd you know kind of bottle it all up push it to one side it's not a healthy way of dealing with things but it's it's an incredibly lonely illness because it's very little understood you know only six seven thousand eight thousand people in the UK have it it's rare it's not as well known as other conditions and it's one thing telling someone that your parent has a neurodegenerative illness and you can say it's like alzheimer's and parkinson's and motor neuron disease mixed in but it's a whole other thing saying it means i've got a 50 chance of having this myself because it opens up a massive conversation and it's actually a really difficult decision to take isn't it to decide whether or not to get tested and live with the knowledge that if you've got it, it's only a matter of time before you start showing symptoms.

12:34Such a difficult burden to carry. Do you remember talking with your family about getting tested and what made you decide to finally take that leap? I think as a family, we discussed it every now and again, but not often. I think it was sort of felt that until me or my brother started seeing symptoms then we wouldn't get tested because there's no cure so what do you do with that information what is the benefit of knowing other than knowing that you have an unknown amount of time to get the best out of your life as you know fully healthy adult so that's where I stood and to be quite honest I felt that if I got tested and it was positive as in I had the Huntington's disease symptoms I don't know if I'd have been strong enough to carry on with that knowledge I couldn't imagine living life after 40 couldn't imagine anything about what that future might mean you know because you know you're seeing what happens to someone when they have it my dad is there in front of me dying that's quite common I think the studies show that only 10 to 20 percent of people who are at risk actually get tested Really?

13:45It's that low? It's that low because, you know, mainly because there is no cure.

13:55So my view always was that unless I firmly felt that I was starting to develop symptoms, although every now and again I did, I wasn't sure I would be able to cope with a positive test, so I didn't get tested. But then my daughter was born in February 2021, and that changed everything for me really overnight I felt like I became my purpose was for someone else finally you know I wasn't here for myself anymore and I felt that whatever happened whatever the result I could cope with it because I wanted to be here for as long as possible for my daughter and I wanted to see what my life with her looked like I wanted to know if I did have the disease I'm going to squeeze every single moment out of the good 10 years 15 years I might have left if I didn't have it then unbelievable you know I can I can start to dream about what her future looks like and be there you know through all the big moments of her life my brain would race forward decades thinking about her life in a way that I'd never felt about mine you never imagined yourself in mid life, later life?

15:10No, never, never. I didn't look to the future at all. And Helen used to call it my birthday breakdown because, you know, I'd have a glass of whiskey or two and, you know, to celebrate. But there was something inside me that just felt like I'm not going to have many more of these. So it felt like a closer step to death, to be honest. And some people listening might find it surprising that you and Helen decided to have a baby without getting tested. Yeah, people might find that surprising, but I think we put our faith in science, to be honest. I think we both felt that by the time our daughter was 10, 15, 20, two decades down the line, who knows what scientists will have found.

15:56So we were hopeful that there would be a cure by then, or at least a good treatment. And then those first few weeks, that's when I decided to take some control of my life.

16:14And talk me through taking that step. The first thing you do is speak to your GP and then they refer you to genetic specialists. And what you then have to do is go through a series of counselling sessions effectively to make sure you can cope with the result either way it's over about four or five months these counselling sessions and then you have a bit of a break and then if you're still wanting to go ahead with it you have a blood test and I think it was about six to eight weeks after that you get the appointment to get the result and at any point even on the day you're expected to get your result you can say you don't want it what a thing to have weighing weighing on you yeah it's it's a huge step to take because it feels like there's no going back once you've picked up the phone to the gp it feels like you're hurtling towards a cliff edge it's a 50 50 chance completely out of my control no treatment no cure something that you've pushed to the back of your head is right at the forefront you there's there's no ignoring it anymore this is happening i remember at the time when you had told me and our colleague Maya we were holding our breath for you and I remember reading a really powerful article in the Guardian archives from a writer called Charlotte Raven who died quite recently of Huntington's this was written about 15 years ago and she was talking about taking the test and there was a quote that I wanted to read out to you she said I thought taking the test would be like finding out the weather before you go on holiday if the outlook was gloomy at least I'd know what to pack in reality it was more like finding out there was a bomb on the plane when you were already airborne.

17:58I felt impotent and envious of the uninformed majority. I wish I didn't know. Does that resonate? Yeah, that's brilliant. That's exactly right, because what can you do with that information? Yeah. And talk us through the day you got the results. The build up to the day of getting the result, I'd felt incredibly down and gloomy. And, you know, I'd be stood there watching my little daughter dancing in the kitchen and a song would come on the radio and I'd be hiding tears because it felt like I was about to find out how I was going to die. The day of the test was ordinary enough. Walking past all the commuters in Manchester going to work.

18:43I've got clammy palms actually talking about it now. We got there really early, St Mary's building at Manchester Hospital. we went up I think to the fifth floor and you know gleaming white waiting room my heart rate was like double or triple what it should have been I stood still but it was racing Helen my wife was on the verge of tears she didn't say very much I could tell you know she was preparing for the worst and then we got called in a tiny little room the consultant had a Covid face mask on he looked a little bit like gareth southgate that's the first thing i could think and then he said words to the effect of are you ready to find out and it's just yes and he said i'm really pleased to tell you you're gene negative me and helen just looked at each other what no way are you joking i just didn't believe it And it felt like winning the lottery, becoming a billionaire or getting a second chance at life.

19:54That's really how it felt. It felt like a physical weight off my shoulders. I really felt a lot lighter.

20:09The first thing I did was to ring my mum. She was in tears. My brother was on holiday at the time. sent him a text and he was over the moon as well. Helen still says it's the best day of our life, even though we've had two children and got married. And I wanted to ask about your brother, Jack. You said he was over the moon for you, but it had ramifications for him as well, didn't it? Yeah, of course, because, you know, he also had the 50 % chance of inheriting Huntington's disease. and even though this makes no rational sense if your sibling has tested negative I think the the natural thing to do is think okay well I must have it then odds are that that I will have it so you know although this was an amazing result for me it gave me a slight sense of dread and guilt because of the impact it might have on Jack you know I felt like it slightly forced his hand in a way to get tested and the decision he took was that he would get tested and my brother went through the same process as me and he got his result back and it was good news again so my brother's result was slightly different than mine in that it meant that he had no chance of developing Huntington's disease but there was a fraction of a chance about two percent he's been told that if he has children they could develop it but the science around that is still quite uncertain and unclear there are tests that you can do on on the embryo to see whether the Huntington's disease has passed on your mum must be so relieved yeah she said she'd sell everything that she has for for these results she can't believe it honestly it does it doesn't feel real it feels like we're incredibly incredibly lucky because we are you know this isn't um we didn't have a small chance of developing Huntington's disease we had to 50 chance each so it's feels quite amazing that neither of us have it yeah and meanwhile your dad has been deteriorating is he aware that you and Jack got tested and that you don't have it yeah we told him when we got the results.

22:29He doesn't really react much anymore to things, so it's difficult to know how much it went in. Sometimes you see a flicker of a smile from him if you're telling a joke, or he can tell that there's something funny going on in the room, but he can't verbalise, so it's really difficult to know, but, you know, I'm sure he'd be absolutely over the moon.

22:52Coming up, hope for Huntingdon's families.

23:11We heard some absolutely amazing news about a breakthrough in a treatment for Huntington's disease. And it's a gene therapy which has had some really, really stunning results in a trial, a small trial of 29 patients in the UK and the US and it slows the progression of the disease by about 75 % and it's potentially giving people with Huntington's decades of good quality life and we'll get into a bit more detail about what this treatment is but can you just tell me where you were when you heard the news? Yeah I was in Manchester at work I just popped out of the office for a sandwich and I felt the breaking news alert go off on my phone had a quick glance and I saw it said Huntington's disease and I sort of didn't dare read anymore so I put my phone quickly back into my pocket, went back to the office.

23:56By the time I'd sat down, I'd already had a couple of texts from friends saying, wow, amazing. So I read the story and it was just complete shock because this seemed to come out of nowhere and the results seemed astounding.

24:21It brought back all sorts of feelings, emotion, you know, the feeling of, I wish this could have been 20 years earlier. Because then it could have helped your dad. Do you think it's too late for him? It's definitely too late. But, you know, it could help millions of people worldwide, especially, you know, younger people who could now take the decision to get tested, knowing that there may be a treatment around the corner if it gets approved. Yeah, and it is a bit complicated, this treatment, but can you do your best job at explaining how it works and what exactly it is? Yeah, I'll give it a stab.

24:58So it's a gene therapy and it's brain surgery, effectively. So they've developed a sort of harmless virus that can get infused into the brain that silences this mutant version of the Huntington's gene and stops it killing the other healthy genes. But they've got to do it very carefully. I think it's over between 12 and 20 hours and in two separate parts of the brain. So it's high risk. I read a quote that said, this virus that your brain is infused with, it acts like a microscopic postman delivering the new piece of DNA inside brain cells where it becomes active. And then it does its good work.

25:35I love that analogy because my dad was a postman. Yeah, exactly. And is it just a one-off thing or do you have to have it every year, this treatment? As far as I know, it's a one-off, a single treatment. So does it sort of stop it in its tracks? I think it slows it. It slows it, okay. Very significantly slows it. So it's still there, it's still developing. But say if you started developing symptoms in your 30s and you had this treatment, then maybe it would slow it enough so the symptoms wouldn't happen until your 60s or your 70s. Do we know anything about how much it will cost, whether the nhs will license it all we know is going to be incredibly expensive there are similar treatments that cost 2.5 million per patient people think it will be in that ballpark but the nhs does pay for that and these are people who can contribute to the economy you know 2.5 million pounds is not a lot of money if you're giving you know someone the chance at being a healthy, productive member of society.

26:40And do we know about that? What are the next steps from taking this trial to actually making the treatment available? So now the scientists involved, the company is seeking approval from the Federal Drugs Administration in the US. So I think the hope is for that to happen in the next year. Once it's approved in the US, they then hope to get similar approval from regulators in the UK and Europe. So fingers crossed we could start seeing this treatment being delivered in the next few years. One of the amazing things about this new treatment is that one of the scientists called Professor Tabrizzi is working with a group of young people who are in what they call stage zero of Huntington's.

27:24That's where they've tested positive but don't yet have the symptoms to see if this prevents it from developing completely so this is already good news it could get even better and the scientists have spoken about it being used potentially for other conditions as well not just huntingtons other neurodegenerative conditions like parkinson's like alzheimer's it's really amazing that they've pulled this off albeit with a small sample but it's a real moment of hope for lots and lots of people it's absolutely amazing isn't it i'm so glad that you've come in to share your story today that neither of us have cried because i did think that was oh my god i'm going now deep breaths thank you so much for coming thank you so much you didn't make it to the end nearly though thank you

28:20that was josh halliday thank you so much to him and lots of love to the whole halliday family if you appreciated this episode then perhaps you would consider leaving us a review we always enjoy hearing what you think of the show and it also helps other people to find us and that is all for today this episode was produced by ruth abrahams and george mcdonough and was presented by me helen pidd sound design was by ross burns and the executive producer was hummer kalili We'll be back tomorrow.