Transcript
Speaker: Hi, I'm Sylvain Bertolo and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who live them every day. My guest today is Marguerite Hughes and we're going to talk about her son Louis and Prader-Willi syndrome.
Speaker: Hi Marguerite, thank you for joining me. How are you? Great. Hi Sylvain, thank you for having me. You know, I love starting with a song, so I'd love to hear which song you or Louis chose and why, please.
Speaker: Okay, so so much of Louis' life has been dominated by Prader-Willi syndrome, and I think the same is true for my own life. But not everything has been about PWS. So i find myself I find it rather helpful to periodically remind myself of this. So I asked Louis for a recommendation for a song because he is far more knowledgeable about music than I am. He has selected Say Something by Justin Timberlake featuring Chris Stapleton.
Speaker: So it is just a random popular song that a truly lovely 21-year-old man likes to listen to. Brilliant. I don't know that song, so I'll have to listen to it now.
Speaker: Does he like music? Like you said, he's more knowledgeable. Is it important for him in his life? Yes, he's always loved music and he has very eclectic taste, which which means he has something to talk about too I think, people of all generations. And he played the piano for many years. So yeah, he loves music.
Speaker: Oh, nice. So I don't know much about Prader-Willi syndrome. Would you be able to tell us a bit more about what it is and how it impacts Louis' life, please?
Speaker: Sure. i think the words that people use typically when describing Prader-Willi is complex. So it is a rare disorder, but it's not ultra rare. So typically one in around 15,000 people and births results in Prader-Willi syndrome. and It is a genetic disorder caused by an abnormality on chromosome 15.
Speaker: in In terms of Louis' life, he was born prematurely. He came eight weeks early. It was immediately apparent that he was very unwell. He couldn't breathe or feed independently, so he was rushed to intensive care where he spent the next 12 weeks, and it was during that period that he was diagnosed.
Speaker: Diagnosis is relatively easy. Once med to suspect PWS and to send a blood test for testing. and So in the early years of Louis' life, he was very hypotonic or floppy. and He had a lot of therapies. So for the first three years of his life, once he left hospital, he averaged over 100 medical appointments each year. So between physiotherapy, speech therapy, occupational therapy, all the medical specialists he needed to see.
Speaker: So there were hormone deficiencies which can be treated. He had various physical issues, so scoliosis emerged, he had sleep apnea, he needed a number of other procedures.
Speaker: As he got older, some behavioural and mental health challenges also appeared, which is typical of Prader-Willi. So persistent anxiousness or anxiety came to the fore. He also had a focus on quite a small number of interests. There was clear signs of very and rigid thinking, and He had challenges transitioning from one activity to another or indeed from one topic to another. So to support Nui, we needed a very strict and clear schedule. And I think he needed quite a stress-free life to be able to thrive.
Speaker: People with PWS also experience particular challenges in relation to food. So the first of these is that they typically need a lot fewer calories than their peers. So around 60 to 75% of the calories of peers.
Speaker: Because of their physical challenges, most also find it hard to take strenuous exercise. So if they gain weight, and it's harder for them to lose weight because they are already on a low calorie and diet and the exercise can be tricky.
Speaker: And finally, there is a really huge problem called hyperfasia, which is an insatiable drive to eat, which can emerge as young as two years of age and is characteristic of PWS.
Speaker: So for most people with the PWS, they need to have food secure environments throughout their lives. So when Louis was nine, we were very fortunate because he had such a good understanding of his own needs. He came to us and he said, you need to lock the kitchen because it's just too hard for me not to take food. Similarly, in his school, all lunch boxes had to be locked away at all times. So we lived, as people with PWS do, in this very unusual world where food was of course, a positive and an essential feature of life, but it was also a threat to him. So we had to protect him from food, which he cooperated with us on.
Speaker: and In the past, it was assumed that people would become with PWS would become obese and that they would have very short lifespans. But that is no longer the case. If food is appropriately managed, if access to food is restricted, then there's every reason to think that people with PWS can live long and healthy lives.
Speaker: And certainly Louis has never been overweight, and I have no reason to think he ever will be overweight. and In addition to physically managing food, people with PWS also need food security.
Speaker: So they need to know when the next meal is coming. It has to be right. There has to be certainty around that. So a lot of different elements go into, I think, making up the syndrome.
Speaker: Yeah, you can see me making notes. There's there's so many questions that I have already. Let's stay on food. First of all, as a nine-year-old, you must have a very good understanding of yourself to be able to say you need to lock the kitchen.
Speaker: Do you think he was aware already at that young age that it was PWS having this impact on him wanting food all the time?
Speaker: Absolutely. i mean, we were very open with him from a very early stage. You know, that he had when he was young, we said he had a special tummy and other people's tummies told them how much they needed to eat, but his didn't. So we would tell him how much he needed to eat.
Speaker: We were fortunate because we live in Ireland and there is a very active Prader-Willi syndrome association here. So even though the community is small, it is very close knit. So at least once a year, we would go to a weekend with other families. And I think that was just invaluable because that normalized the reality of PWS for him, even as a young age, because he saw other people who would say, no, it's not your snack time now. You will have your snack in an hour. you saw other parents who were saying, I will give you your sandwich and this is the correct amount.
Speaker: He learned about people who who had locked kitchens, So for him, this became normal. And I think that was extremely helpful. And then it was quite a natural thing for him to say, you need to do this. And at a later stage, indeed, when it came to him moving to so a supported living setting, and something very similar happened. He was aware of other adults who lived in that setting. And he told me he wanted the same.
Speaker: and Okay. Wow. Do you know if it's because they can't eat as much, so they're always hungry? Or is it more of ah the brain telling them that they constantly need to have food?
Speaker: Yeah, it's the brain. So even if someone with PWS had the typical calories, that wouldn't be sufficient. So, I mean, there was there is research pointing to... people needing dramatically more calories than the norm to achieve satiety. And even then, within a very short period of time, this drive to eat comes back.
Speaker: So, I mean, there is, as you would expect, a lot of research ongoing. But yeah, it is it is a bigger problem than people not getting enough. Though I think you point to an interesting...
Speaker: factor, which is, as it's a rare disease, of course it is misunderstood. So, I mean, there have been occasions when people said, and wonder he's hungry, you only gave him that tiny lunch. And that's not the problem. The problem is something else. Yeah. And then if you say, well, no, it's not time to eat, is it fine?
Speaker: Does Louis accept that well? For Louis, because he has always grown up with this and we've always had, you know, he has three meals and three snacks every day. That is the routine. We do not vary it. There's so many other things I've done badly, but I've done that well. That's the one thing that has to be right.
Speaker: So I think because he has always grown up with this, he does not question it. But that is not the case for everyone with the PWS. There are some people with PWS that who would have greater difficulties with that and who very frequently would say, i want something to eat. When is my lunch? Is it lunchtime now? and So I think we are fortunate.
Speaker: the The intellectual ability of people with PWS also varies. So most people with PWS have a mild intellectual disability. Some have a more severe challenges in that area. Louis actually isn't intellectually disabled in that sense at all.
Speaker: So I think perhaps he has more understanding. Yeah, like you said, I guess it's a lot of explaining and controlling an early age to to get to a point where he understands and he trusts that you you you mean well, in a way.
Speaker: And I think that maybe that is one of the big challenges with this syndrome. The family, they hear... all these things that sound frankly unbelievable at the start. And they think, how could you possibly live with all the food locked up all the time? It sounds like something you could not do.
Speaker: But once you get over that and you think, okay, there is a way for our son to have a good life. And this is what it takes. Once you decide, yes, we're going to do it, then actually it's not, I would say that difficult once you've made that decision. But overcoming that initial shock at the prospect, that is perhaps the hardest part. Yeah. yeah I'd like to go back to something you said as well, that there's a lot of anxiety, anxiousness with Prader-Willi syndrome.
Speaker: And you mentioned that you strive to create a stress-free life. but What does that look like? Because it sounds impossible to reach.
Speaker: Yeah, it's certainly not easy. I think the first thing... that one should do is throw all societal expectations about how you should live out the window. You do whatever suits you and to heck with what the rest of the world is doing. So, you know, there's certain norms that involve stress and we try to engage in a few as few of those as possible.
Speaker: So i think you also have the the right to say to family members and to friends, thank you very much, but we don't do that. And we're not going to go to this event or to that event because it doesn't suit us. So we tried not to overload Louis in terms of the number of things he had to do, even though his intellectually is very strong. We never put any pressure on him in relation to school. He never did any exams.
Speaker: and He attended... a mainstream school up until he was about 11 12. But after that, he entered special education, which was a quieter environment.
Speaker: As it happens, Louis also has a diagnosis of autism. So he was able to access some classes for people with autism, which were quieter and helpful for him. So yeah I think sticking to the routine, not trying to do too much, letting, not worrying about the small things.
Speaker: I suppose in the early years, Maybe things like, let's all try and look nice for a family photograph. That might have been important to me. That didn't last very long. I don't care what anyone looks like. I don't care if the house is falling apart. As long as we're all safe at the end of the day, ideally happy, that's what matters now.
Speaker: Has it had any impact on the family having to say no to those social events, for example? And it's not always easy to set, even with friends, with your own family, to set expectations that differ differ from the norms.
Speaker: Absolutely. I think it's very difficult for siblings. Louis has one sister. She's six years younger than him. She's wonderful. She's 15 years of age now. and i think she would say that she learned a tremendous degree. She matured far younger than her peers. She's a very independent person, but it is very challenging growing up because essentially the same rules had to apply to her as applied to him.
Speaker: So, you know, we couldn't do a lot of things that other people would do. And i know you know, when she went to school initially, she was clueless in terms of lot of the outings that her friends were talking about in terms of trips to McDonald's. And she just had no experience of that world whatsoever. She was this oddity who did all these other things. So yeah, I think for siblings, it's hard because they don't have the disability, but they have to live the life to an extent of the person who does have the disability. I think
Speaker: There should be more social care provided to families so that it is there is time for parents to spend, I suppose, one-on-one time with unaffected siblings so that they can do some of the things that don't suit the person who has Prader-Willi syndrome.
Speaker: But yes, I think it has enormous impact on the family in terms of the levels of stress, the relentlessness of the support needs. In many cases, at least one parent will end up giving up work. And so, yeah, it would be hard to overstate the impact, frankly.
Speaker: Yeah, yeah. You mentioned social care. What do you mean by that? Could you expand a bit on what you think would be good to have and what you lacked as Louis was growing up?
Speaker: I think we had wonderful medical services when Louis was growing up. And there were moments during his life that medical services, they saved his life, starting from the when he was born and he was rushed to intensive care. Without those services, he wouldn't have survived.
Speaker: He received many treatments, medications, therapies, which greatly enhanced his quality of life. And I'm grateful for all of them. And I'm very conscious that we're fortunate to live in a country with and high quality medical services. So I completely respect those services.
Speaker: However, I think that the advantages of medical services are are in many cases not more important than social care. So for much of Louis' life, what kept him alive was not medical services. It was the care that his father and I provided to him, whether that was ensuring that he got the right quality of food, that he did his physio every day, that he and wasn't put in a position where he could have hurt himself, jumped in front of a car, had an accident.
Speaker: So we also kept him alive. We also ensured that his quality of life was higher than it otherwise would have been. It can be a 24-7 job, and that's not an exaggeration. and you know There can be tasks to be fulfilled throughout the day and at night. And in order to relieve alleviate stress for the person, I think parents try to do things when the person is not with them. So for example, if I'm preparing meals, I would try to do that when I'm not also trying to look after Louis, because that's not something that would be helpful for him. So you look after the person, then you try to do all these other tasks so that you will have
Speaker: all of your attention to give to the person, that is very difficult to sustain over a long period. It's disappointing to me that there is appears to be a hierarchy when it comes to health service budgets.
Speaker: And medical services are often understood as something that are essential and they have to be provided. And at least where I live, social care is something that's seen as a nice add-on if there's money left over. And I think that is not the way we should be approaching this if we want if our interest is genuinely to support people who have this syndrome.
Speaker: My message would be social care is just as important as medical care, and both are essential. yeah Yeah, I agree with you. And I'm pretty sure that's the case in many in most countries.
Speaker: there' So sufficient social care is probably the exception, not the rule. I agree, I agree. yeah yeah Do you know if there's any progress in that respect? Well, I suppose I can only speak with confidence about my own country. So as I said, I live in Ireland. i think we've been tremendously fortunate because there is much greater understanding now of the social care needs of people with the Prader-Willi syndrome. So Louis, when he finished school, when he was 18, he moved to a PWS specific residential setting.
Speaker: So there he lives in his own apartment in an apartment block with six apartments, each of which have one resident with PWS. There are extremely high rates of staff support in that setting. So every day he has a staff member who is allocated to support him exclusively and there is staff support during the night.
Speaker: That level of care and specialised care by people who are very experienced in the syndrome means that he can live a life that works for him. So he can get up in the morning and talk to his support worker for the day and they can come up with a plan. So i I think that service wasn't available in Ireland but for most people when Louis was born. So I think I'm very grateful that, in fact, he's living at a time when he is, when he's able to access that and he's able to live a life that he leads rather than if he were at home, he would probably be living a life that his dad and I were leading.
Speaker: So he gets to make choices and he has the support to enable him to access the world. And I'm very i'm very grateful for that. That's amazing. It's the first time I hear of something like this.
Speaker: With so much support that's specialised for, in this case, Prader-Willi syndrome. that That's amazing. It is. And I suppose, even though I'm, of course, proud of what's been achieved in Ireland, I know when that was being researched for Ireland...
Speaker: The people involved visited similar settings in Germany and Denmark and the USA. So PWS specific settings do exist. And the reason governments are sometimes willing to fund them is because there's an understanding that people with PWS don't do well in mixed settings.
Speaker: Because in that case, you either have to lock up food for everyone, which isn't going to be acceptable, or you expose the person with PWS to risk, which also isn't acceptable. So the specific settings tend to be needed and to make it work well. how does What does Louis think about it?
Speaker: Does he like it? Oh, he does. And once again, louis led. and And I'll be honest, it was something i wondered about when he was a younger child. How do I explain to him that...
Speaker: you should want this thing that you've never experienced. Because within our immediate family circle, he wouldn't have been familiar with anyone who lived in a supported living setting. So I thought it would be natural for him to want to live as his father and I do, or as his aunt does, or as our neighbours do. So you think, how is he going to want something else when he doesn't even see it?
Speaker: So I did wonder about that. And again, through our interactions with other people with Prader-Willi syndrome, that situation more or less resolved itself because one day when we were leaving an event he saw two adults with PWS who he knows getting into the same car and he said mum why are they in the same car do they live near each other and I explained actually they live in this house where there are staff and they live together but there are staff to support them and help them with things they find difficult and I'll i'll never forget the moment because he was in the back seat and I was looking in the rear view mirror thinking how' is this going to go down
Speaker: and he said, Mom, when I'm an an adult, I definitely want to live in a place like that. And it it made it so easy for me because then my job was clear. All I had to do, which wasn't easy, was convince and our health service to pay for it. But at least I knew what he wanted and he never changed. He always said he wanted that. And I'm glad we were able to convince the payers to give it to him.
Speaker: Yeah. Well, ah going back to what you said earlier about expectations, that's not something that any parent would think that their child would end up doing.
Speaker: From your personal point of view, and maybe your husband's as well, has it been a difficult journey to adapt and accept it? m Very occasionally, I meet people who are the same age as Louis, let's say children of friends, and I see them living a very different life and they seem happy. And I think, oh, if circumstances were different, Louis would be living a life like that.
Speaker: But I don't find it anyway in any way upsetting. When Louis was born, i had already been working for, I think, five years for a humanitarian relief and development organisation. And it worked with disadvantaged communities throughout Asia, Africa and Latin America.
Speaker: So many of my colleagues were in places where the health services were not good. So my immediate instinct when Louis was born was relief that he was in a place where there was an intensive care, where he could get a diagnosis, where he could survive.
Speaker: And i've I've always kept that feeling with me throughout his life. Yes, in one sense, he is very disadvantaged, but in another sense, he's incredibly lucky. You know, he had a family that had the time and the knowledge to support him. He's in a country with good services.
Speaker: So no, I don't feel, i don't believe it was that difficult to accept. I mean, some people say, why did this happen to me? i think I would probably think, you know, why shouldn't it happen to me? Or why shouldn't it happen to my child as opposed to anybody else's child? So I think sometimes he is not happy. And of course, that's sad.
Speaker: But often he is happy. And I look at him and think, my child is happy. That is a good outcome. So no, overall, I think I've i've absolutely accepted it, if if that's what you're asking. Yeah. Yeah, yeah, yeah. and and And I was asking about the the journey to get there as well from a like, not a mental point of view, but more societal expectations that should get a job, everyone should get their own apartment and be independent.
Speaker: Not that I'm saying where Louis is, is not good, not at all. But was just wondering if it was a journey from your point of view to get there. Yeah, I think that's a fair question. Yes, I suppose it was. I mean, certainly if you'd said to me on the day he was born, by the way, he'll always need a high level of support, I probably would have been horrified.
Speaker: and So you deal with the the challenge in front of you at that moment, and you can put off dealing with some other challenges, I think. and So yeah, initially, I would have been horrified by that. But you know, you grow, you learn things, you get old and your thinking evolves, hopefully. So maybe I hope I'm a bit wiser at this point than I was then. And yeah, I accept it. And I think it's, it is good to reflect on why the world is as it is and why we put so much value on people doing things, usually things related to money or status. and
Speaker: You know, why do we respect those to the extent that we do? I look at my son, he's a nice guy. He makes people happy. He tries his best. You know, what is there not to be proud of? Yeah, yeah. yep fully agree.
Speaker: So you referred to meetings with the community a few times. How did you get to meet the PWS community? When Louis was diagnosed, honestly, I'm not sure who first gave me a number. and I don't even think we had much of a website back in the day, but Ireland is a small country, so everybody and will put you in touch with somebody. So yes, I met somebody else, another parent,
Speaker: And i think i think we believe that there are up to 150 people who have PWS in Ireland at this point. There wasn't anybody living probably within an hour of us at that stage, and but they hold annual meetings. and I started going to those. I joined their board. i think I was on it for five years, which was really helpful at just understanding how the community worked.
Speaker: Then I joined the board of the International Prader-Willi Syndrome Organization and I spent six years on that board. and later i became the CEO of that organization for another five years. So I think I found it tremendously helpful to understand how people in different contexts live with the syndrome. And if you like, it provided a nice...
Speaker: antidote to the norms that the rest of the community and were living by because I got to see exactly how other families were dealing with challenges and that was tremendously helpful and fun and I think there is a shared understanding among that community. You know I've i've often said even working internationally you know I've had found I've had more in common with, let's say, families in Iran or Colombia or South Africa than I have with my next door neighbor, even though culturally we're coming from a very different place because we have this one huge thing in common. So, yeah, I got in touch probably through a personal connection and I i feel I've i have never left the community and I don't expect I ever will.
Speaker: Yeah. What was the drive to be so much involved with the community? It sounds like you wanted to meet other families, which completely makes sense.
Speaker: That's one thing. And then becoming the CEO of ah the organization seems like you you wanted to help others as well. Is that a fair comment?
Speaker: Well, I was very busy, Sylvain, so I didn't think too much. And I just stumbled along. And all of a sudden, I was doing different things that I had never set out to do. It seemed like a natural progression and one thing followed another.
Speaker: But yes, i I did join because i wanted to help my own family initially. And I wanted to understand more. But absolutely, I think I also did want to help other people.
Speaker: You know, I've always felt so strongly that, you know, it's our world is so unfair. And even with a diagnosis. people Families of people with the PWS2 can do so much to support their family member. And I think it is a ah tremendous shame that so many people are not diagnosed, even though the diagnosis is not that expensive and it's and it can make such a difference. So yes, I felt there was an incredible injustice at least with Louis growing up, I was always able to say to myself, even if things were hard, that he is getting all the services that are available. We have pretty much all the knowledge that is available. We are doing the best we can. But if I were in a situation where I either didn't have a diagnosis or i had no medical professional to support me who knew anything about it or I couldn't access a treatment that people in another part of the world were accessing, i think I would find that extremely difficult.
Speaker: So yeah, I mean, my heart goes out to people in that situation. And I did want to, in a small, small way, do something to try and help other people. Yeah. And for those people, so if if someone is listening and they've just had a diagnosis, what would you tell them? What would be the first step that you would recommend?
Speaker: Well, if there is a national PWS association in their country, and there are 47 countries in which there is, then I would recommend they connect them with them, find their tribe, find people who can guide them, who can laugh with them, who can tell them how they navigated similar challenges.
Speaker: If there isn't, i would recommend they contact the international organization and because perhaps the international organization will say, we know some other people in your country or we know this doctor in your country who has knowledge of it.
Speaker: and So I think my advice would be reach out. and You'll meet a lot of people and from a lot of backgrounds, but you will have something in common with them. And you can be as involved as you like. if You can turn up once every five years. you can be involved every week, whatever you want. But I would say Find your tribe, find your people, and they'll help you.
Speaker: Sound advice. have one last question for you. You decide if you want to answer for yourself or for Louis. What's your happy place, place where you feel at peace?
Speaker: I didn't discuss this with Louis, but I think he would agree with the answer I'm going to give you. and When Louis was a small boy, i would say our happy place was the couch in our sitting room, surrounded by a huge pile of children's books,
Speaker: because I just adore children's literature and i hope I passed on that love to Louis and we spent hours and hours and hours reading books together and he's always been a great reader and I i just loved every minute of that time.
Speaker: More recently, I would say that our happy place is anywhere scenic where we can go for a long walk, whether it's a beach, by a river, in a wood, ideally when it's not raining, then we will have a lovely day out together and I hope you know for decades to come we'll continue to do that.
Speaker: Amazing. Amazing. um I'm going to put you on the spot here. Favorite children's book? Oh my goodness. That's a tough one. Okay. I'm going to say people.
Speaker: P-E-E-P-O. I won't tell you anything else about it Oh, okay. I'll have to check it out then. Well, thank you so much for your time, Marguerite. It's been amazing talking to you and learning about Louis.
Speaker: For me, the strongest message is is to not necessarily follow the social expectations. Because yes, a lot of people can do like everyone else in society.
Speaker: But actually, that's not the only way of doing things. And there are other options. So it's creating this life that works for you. Absolutely. And thank you so much for having me, Silvan.
Speaker: Well, it's been a pleasure. Thank you.
