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Patient Perspectives: Maddie Stoodley – Gaucher’s Association Ambassador and UK Board Member

Maddie Stoodley is a rare disease patient and Gaucher’s Association Ambassador and UK board member. Stoodley was diagnosed at 16 months with a rare metabolic condition, known as Gaucher’s disease (type III). As a young patient advocate, Stoodley is very open about the impact living with a genetic condition can have on mental health and family life. For her dissertation, Stoodley explored the impact of Brexit on rare-disease patients in the UK.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello, everyone and hello, Maddie. Thank you so much for joining me today for the latest patient perspectives as we take a look at the impact that genomics is having within patient lives. Today, we are joined by rare disease patient, Maddie. So, Maddie, if you could just introduce yourself and tell everyone a little bit about what you do as well.

Maddie: Yeah, hi, everyone. Thanks for having me. I’m Maddie Stoodley. I’m 26. And I have Gaucher’s disease type three. And I’m currently working for the UK Gaucher’s Association as their Project Coordinator. And I also work part time at Aparito, which is a med tech company, and I also do some project management for them as well.

FLG: For those who don’t know, would you be able to give us a little bit of information about what Gaucher’s disease is and what the symptoms are as well?

Maddie: Gaucher’s disease is an enzyme deficiency disorder, which basically means that I lack an enzyme to break down these fatty acids – is how I would describe them – that build up in my vital organs. So, they build up in my spleen, liver, lungs, and because I have type three, it also affects me neurologically. So, I have the cells basically multiplying in my brain all the time. And because of this, I need the enzyme to be put back into my body to basically break down those cells. Otherwise, my organs would shut down quite slowly. So that’s basically what it is in a nutshell.

FLG: When did you first present with symptoms and when did your parents first think there may be something that’s not quite right?

Maddie: I was diagnosed when I was about 16 months old. And about three months prior to that, my mum was concerned because I was becoming quite withdrawn, and I was quite a happy baby and quite sociable. I didn’t really appear to have any developmental delays or anything like that. So, she sort of put it down to the fact that, at the time, my grandfather had passed away, and everyone was quite low in the household, and she basically thought that perhaps it was an emotional reaction to that. But she took me to the GP anyway, because she was slightly worried and just wanted to check it out. So, we went to the GP, they couldn’t immediately see anything wrong, but they thought it might be an ear infection. So, this was just before Christmas. So, they sent me home with some antibiotics. And they said to my mum, ‘Well, if she doesn’t improve in the next couple of days with these antibiotics, make sure you bring her back. We know it’s Christmas but it’s fine, we’ll accommodate her’. So, I went home, took the antibiotics, nothing changed or anything. It got progressively quite worse. So, I started having what looked like bruises and then also a distended stomach, so my stomach was becoming quite big. And I was just latched to my mum the whole time, I wouldn’t let go of her, and, as I said, I was pretty sociable, so that was out of character.

So, we went back to the GP. They did some blood tests and realised that my haemoglobin was really low. He also noticed that, obviously, I had this swelling on my stomach. So, they immediately thought perhaps it was leukaemia and that I might have a tumour. And we were actually really lucky because we lived in Watford at the time, so I was referred to Watford General from my GP who did the blood test, and they then referred me to paediatric oncology at Great Ormond Street, which would not have happened if they didn’t have a joint partnership. And I honestly hate to think how many years or months it would have taken for me to get that diagnosis had they not had that partnership. So, I went to Great Ormond Street. They did a bone marrow aspiration because they thought it was leukaemia. Turns out, it wasn’t leukaemia, but it was some a very rare genetic condition, called Gaucher’s, which my parents had never heard of. And I think at the time, my parents took a bit of a sigh of relief because, of course, I think whenever you hear cancer or leukaemia, you think the worst straightaway. But Gaucher’s was unknown to them, they have no idea what it was. And I think they were just relieved at the time that it wasn’t cancer and didn’t quite know the repercussions of this condition. So that was basically how it was first identified.

FLG: What was the molecular diagnosis that you received?

Maddie: My haemoglobin was really low, and they also identified these Gaucher cells in my blood. So, they tested both of my parents and both my parents were carriers of the genotype L444P homozygous, which is the gene that is basically related to Gaucher’s disease type three. At the time, they weren’t entirely sure that I had type three because I was quite young. I wasn’t presenting that many obvious symptoms from the outside, apart from the sort of distended stomach et cetera. There wasn’t anything neurological that they thought could be related to type three. So, then I had to undergo neurological testing and they basically monitored my eye movements and then made the diagnosis that I did indeed have type three.

FLG: What impact did this diagnosis have on your family? How did you make sense of it as you got older?

Maddie: I think it had a really big impact on my family. My parents sadly divorced about six months after I was diagnosed because my mum was in hospital with me constantly. And because of our financial situation at the time, my dad had to go back to work. So, he worked full time and didn’t see me as much as he would have liked. My grandparents lived in Gloucestershire at the time. They would literally come up all the time. And I think my dad felt that he wasn’t as involved as he should have been. Unfortunately, they grew apart because of it, and then sadly split up. So that had a really massive effect on me, and sort of changed my whole life to be honest with you. And I think my grandparents, to an extent felt quite guilty. I think people forget that because it’s genetic, obviously, you inherit these genes from both sides of the family. We didn’t have my maternal grandparents tested because they didn’t want to know. But even to this day, my granddad still can’t watch me have my treatment because he feels so guilty about it. And for me, that is quite heart-breaking because obviously, as his granddaughter, I love him, and that wouldn’t make a difference anyway. And, you know, obviously, my parents have the same thing. And then I have siblings. Obviously, because my parents split up, I don’t have any full siblings, but I have two half-sisters and a half-brother who have all had to have genetic testing, which then just carries on really, because, you know, when they have children, they need to be genetically tested. And yeah, I think people forget that side of things and how it affects the family.

FLG: You are currently on maternity leave. What support did you receive trying to go through that process?

Maddie: So, it was slightly different for me, because COVID. I didn’t want to mention it, but I have to. So, basically, my partner and I, we had the discussion that we wanted to try and have a family. And one of the reasons for that was that there is potential in the next couple of years to either have an oral therapy, which would mean that I wouldn’t have to have my infusions every two weeks, or, you know, at some point, hopefully, gene therapy. And the thing is, when you’re on these clinical trials, you can’t be pregnant, because they monitor the effects of the drug, and if your hormones are all over the place, then they can’t quite identify what’s due to pregnancy and what is due to reaction to the drug. So, we thought we’ll try to have children now. And, yeah, it was a really difficult time, because ordinarily, I think we would have got at least three appointments of counselling. They would have gone through everything with us. You know, obviously, it’s a massive thing to go through because you never know. Like, people were saying, ‘Oh, it’s a one in 40,000 chance’ and all of these statistics. And you think, yeah, okay, but then both my parents had it, and they didn’t know.

And so, because of COVID, we only had an hour, which was slightly tough. So literally, we had this discussion, what would happen if my husband was a carrier? What were the chances of the baby having Gaucher’s? And all the different options we had. And then, you know, talks about other options that if he was a carrier, we could go through IVF, et cetera. And then they actually did his bloods at the end of the appointment, and we were told that we would get them back in about three weeks. So, at this point, I was actually already pregnant. I wasn’t aware that I was pregnant, but I had a feeling that I was, so I was slightly worried to say the least, because at this point, we would have to make a difficult decision if he was a carrier. But I didn’t say that to my doctor because I wasn’t quite sure. And it did turn out in the end that I was pregnant at the time of that appointment. And so yes, they did the bloods, and we didn’t hear back for 13 weeks.

So, it was quite difficult, because obviously, with COVID, we had to be patient and understand that the hospital was very busy – everyone was very busy. So, we kept calling and calling and weren’t really getting any answers. And then eventually, the results were given to the midwifery department at my local hospital, but I didn’t realise this at the time. So, even though they were available from 11 weeks after, we didn’t get them for 13 weeks. So that was really quite worrying, because at this point, I did know I was pregnant. I had the first scan, and everything was going really well. And luckily, they were negative. But, you know, I think I just I don’t know how I would have felt had the results come back positive. I think we were just very lucky that we weren’t in a position to have any of the conversations about what we would do next basically.

FLG: Would you be able to discuss a little bit more about what treatment there is and some of the potential experimental therapies that are being explored?

Maddie: So yeah, so I have enzyme replacement therapy (ERT) at the moment, every two weeks. And I’ve had that since I was diagnosed at 16 months old. And my husband administers that now, which is really good, because it gives us a lot of flexibility, a lot of flexibility around at work, et cetera. But as I said just now, there is a possibility in the next couple of years to have an oral therapy, which would basically be a tablet once a day. And that would be it, basically. I wouldn’t have to have any injections, and it would just be life changing practically for me. Because at the minute, even though my husband does my infusions, even things like having the drugs delivered, I have to stay in for a whole day to wait for those drugs to be delivered. And I’m quite lucky that I work from home. So that doesn’t really impact me. But I know that a lot of my friends at university, or who actually go out and work, that it’s really hard logistically to actually organise that. So, that is actually very important for people’s quality of life and something that people forget about. So, I think that would be pretty life changing.

And then also, obviously, gene therapy, which would be amazing, because I don’t think I mentioned before, but the enzyme replacement therapy that I’m on doesn’t cross the blood brain barrier, which means that my neurological disease is progressing continuously because it can’t be treated. If gene therapy was created, that would be something that would be able to basically, hopefully, stop the impact of the disease in my brain in its tracks. So, it wouldn’t cure the disease, but it would basically prevent it from ever getting any worse, which, for me, is the ultimate treatment I could ever receive. I think one of the important things that I’ve thought about gene therapy because I’ve been on quite a few calls recently, talking about what patients think about gene therapy. And I think that, although it is an amazing piece of science, I think that it also carries a lot of risks. And like, for instance, you would have to come off your enzyme replacement therapy in order to have the gene therapy. And if you are stable, like myself, and you have been stable for 20 odd years, I think that is a massive risk, and it’s just weighing up all of the different factors and also how it affects your family. Going up to hospital and having that sort of invasive procedure is something that involves everyone, not just me as a patient. So, my husband, and then of course, my children. So, those are the treatments that are coming along, hopefully, in the next couple of years.

FLG: Your mum is heavily involved in the Gaucher community. What has it been like watching her advocate for the condition? And what support as she provided you with?

Maddie: I’m incredibly proud of my mum, I think she is such a strong person. And I think my attitude towards my condition is probably 100% down to how she brought me up, and the fact that she’s always said, ‘This condition doesn’t define you’. And she’s never pushed me, but she also never wrapped me in cotton wool, so to speak. And, you know, I went to school, and I was always told, ‘Do your best, and that’s all you can do, but you need to try and there is no such word as can’t’. I think I really struggled as a child, especially with my peers. Because, as I said earlier, not a lot of my symptoms are visible to the outside world. So, when you’re at school with young ones, unless – this sounds bad – you’re in a wheelchair, or you’ve got something very visibly wrong with you, it’s sort of like, you’re receiving special treatment and we have absolutely no idea why. And I think if I hadn’t had my mum, I think I would have really, really struggled.

And, you know, she always made sure that I had support at school. I was under special educational needs because of my neurological issues. I needed extra time, writer’s scribe in every exam (and that even included university). And she basically didn’t take no for an answer. I remember at school, they used to call her the dragon. She was just ruthless. She just fought tooth and nail for everything that I had. And without her, I probably wouldn’t be able to work full time and all the other things I do. And she doesn’t just do that for me, she does that for so many patients, and so many parents. And now she’s doing so much work in countries like India or Pakistan, trying to get humanitarian aid into those countries. And she would say that she did all that for me and now I’ve flown the nest and I’m independent and all the rest of it, and now she wants to do that for other people. And I just think that’s amazing. And to have that sort of person as a role model, it’s just incredible. I think she’s now coming up to 16 years. She’s worked in the UK and then, recently, she moved over to be the CEO of the International Gaucher Alliance. She’s an incredible person!

FLG: What has it been like for you sharing your story and getting more involved within the community yourself?

Maddie: Yeah, I mean, this definitely wasn’t something that I thought I would have done when I was at primary school, because, as I said before, that was quite a difficult time for me. And I wasn’t angry at the world. That’s not the right expression, but, you know, I wanted to be just like everyone else – I wanted to fit in. As I got older, I realised that I could pretty much do everything that my peers did, and I could also use my experience to help other young Gaucher patients. And that’s basically what I try and do on a daily basis, is make sure that the younger ones know that, like my mum taught me, your condition doesn’t define you. Yes, you live with it. Yes, you have your ERT. And yes, you have to go to hospital and all of these other things. But actually, they have so much potential. And I think it’s really important to have an older – I mean I’m not that young anymore, I am 26, but I’ve always thought of myself as the older one that they could kind of look up to. But I think that there’s like 10 of us that are about my age and we’re all different. We all have different symptoms; we all do different things. But I think that it’s really good for the young ones to see us go through school, go through college, go through university, work, have relationships. All of these things are possible.

And I think that when I was younger, having someone like that would have been really useful. And obviously, I had my mum, but 20 years ago, we still didn’t know that much about the condition and treatment was still quite a relatively new thing and before that, people were having bone marrow transplants, which is quite a risky procedure. And so, I didn’t necessarily know anyone that was particularly older than me. So, I think that’s why I got involved and that’s why I love doing what I do. And actually, you know, the older I get, the more involved I get into it, the more knowledgeable I am, and it just drives me to spread more awareness and just be an advocate basically. It just spurs me on to fight harder!

FLG: You are very open about the impact that your diagnosis has on your mental health. What advice would you give to other people? And how did you deal with that yourself?

Maddie: I think one thing I would say is to get help and accept help. I went through a phase where I absolutely did not accept any help, did not want any help and was completely in denial that I needed to do anything about how I felt. Because I was thinking, well, it’s all the outside world and unless the people around me change, then nothing’s going to change. There’s no point in me having counselling or anything like that. And I sort of went through having depression for about six years and anxiety – I still struggle with anxiety quite a lot. And I would say, looking back now, that was a mistake, because it would have helped me come up with some coping mechanisms. And actually, I just isolated myself even more by just saying that I didn’t want any help. I think that’s really important. And now, mental health is becoming so much more important for people in our community, it’s one of the things that we sort of advocate for the most. Because in our specialist centres, we don’t have a psychologist, for instance, but I know that in some other specialist centres, they do. And it would be something that I think would be absolutely brilliant. But it’s just a matter of resources, really, and having the finances to fund that. But the UK Gaucher’s Association does have a patient family support worker who is on the end of the phone if anyone has any issues or just wants to chat. And that’s been something that’s relatively new. And that position has become more important as the years have gone on. And yeah, I think that’s been a great resource.

FLG: I think it’s definitely important if people need help that they go out and seek that. If we look at the rare disease community as a whole, when you were at university, you wrote your dissertation on the impact of Brexit on the rare disease community. Would you be able to summarise what you found and the impact of that now as the UK has finally left the European Union?

Maddie: It was a really interesting piece of research, actually. I interviewed five professionals about what they anticipated to happen after Brexit. And it was quite interesting. So, I think, four people I interviewed were extremely negative about it. One of them actually said that it could delay our access to ERT by a number of years, because the EMA would no longer oversee the safety protocol of the products used in the UK – those products would have to be relicensed under the MHRA. And that process could take three to six years. And we may not actually have access to that ERT in that time. So that was a pretty devastating thing for me. And that person actually did work in the EMA for a while. And so, when they said that, I took it quite literally. I couldn’t believe it, really. And luckily, that hasn’t happened so far. I do know that at some point it has to happen. I don’t know whether treatment is going to be withdrawn from patients currently on ERT, but I’m more worried about the impact it will have on newly diagnosed patients because I think the financial burden of treating the patients who are going to be diagnosed in the next few years, I don’t know whether the government are going to agree to finance them. I’m not sure. So that’s going to be a big thing for us. And I know that UK Gaucher’s Association is anticipating having to go through relicensing for their products and they might be judged to be too expensive to fund. So, we’ll just have to wait and see on that one.

And the other big impact, like I said about gene therapy and other clinical trials coming through, is that pharmaceutical companies will target the European market because it is a massive market compared to the UK market on its own. So, we sort of have to rely on pharmaceutical companies investing in the UK even though we are such a small market. The good thing with Gaucher’s is that we do have so many experts in this country that running clinical trials in the specialist centres over here is actually well, hopefully, quite beneficial for them because the physicians are so clued up. So, I would say that those two things were the most significant things to come out of the research. And I’m definitely hoping in the future to do some more research on this type of thing, because it was fascinating to me. It was definitely disheartening – it wasn’t cheery. But how things sort of fitted together, I never quite realised that. I think it also helped me to come to terms with my condition even more, and as I said before, just spurred me on to do some more research and just keep doing the advocacy work that I’m doing.

FLG: Well, I can’t wait to see what you get up to next! Thank you so much for joining me today, Maddie, it’s been really interesting. And it’s been great to hear you share your story and I hope that it resonates with other people as well. So, thank you so much.

Maddie: Thank you for having me.

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