Patient Perspectives

The patient journey | Pompe disease

September 15, 2021 Season 1 Episode 4
Patient Perspectives
The patient journey | Pompe disease
Show Notes Transcript

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.

Infantile Pompe disease is the result of complete or near complete deficiency of GAA.  Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections.  The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. 
Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge.  
Most babies die from cardiac or respiratory complications before their first birthday. 

Juvenile/Adult Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.  The heart is usually not involved.   

In general, the later the age of onset, the slower the progression of the disease.  Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.

A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.  

Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.  Carriers are most reliably identified via genetic mutation analysis.

Guy Lacey  5:17  

Welcome listeners. This is the patient perspectives Podcast, where we talk to patient advocacy leaders, patients and thought experts on a particular disease to understand the burden of needs, the patient journey and potential future developments in an area. Our focus is to amplify the understanding and disease areas which may not have the voice they need. 

Today, we introduce two guests, Allan and Rowena who will talk about Pompe disease, Allan and Rowena, welcome to the podcast. Thank you. 

So, I'm going to have each of you introduce yourself, tell you a little tell us a little bit about your backgrounds and how you've been involved in really the progression of Pompe disease and understanding the condition. 

 

Allan Muir  6:09  

Hi, my name is Allan Muir. I'm the founder and chair of the Pompe support network in the UK. And I'm also vice chair of the International Pompe Association. So, over the years, I've become familiar with many people, patients, patient advocates, professionals, health care professionals, scientists, and industry partners in our journey to find good treatments and improve treatments for Pompe disease. And my journey started in very early 1990s, when our son was diagnosed with Pompe, he was a floppy baby at the age of two. He's now pretty healthy, 31 year old. And so, he's been a good survivor, but he's had issues throughout his life. He worn foot splints and leg splints to try and hold his legs in shape. As he grew, he wore a back brace for a couple of years, which can't have been pleasant at all. He's had scoliosis correction. And so, he's been through the wars. But he's still can play a game of tennis and enjoys swimming. And has been stabilised by Enzyme Replacement Therapy since he was 15. 

 

Guy Lacey  7:52  

Thank you, Allan for the introduction. Rowena we're going to have you introduce yourself now.

 

Rowena   7:59  

Hello, my name is Rowena. And I have late onset Pompe Disease, which means I made it through first years of life. In early onset, the children don't live to a year old. I was very ill as a baby, but a long time ago, so they can't say now if that that was Pompe or quite what it was. And I wasn't actually diagnosed until almost 18 years ago. So, I was in my mid-40s. At the time that I was diagnosed with Pompe, having been living with it unknown for all those years. If they had known or realized what was wrong with me, when I was born, they would have told my parents that I would only live about nine months. Because at that stage, it wasn't known that some people make enough enzyme to survive, but not enough to get through life without eventually having symptoms. And these come on at various stages. 

Sometimes it's when in childhood sometimes, like the older and some of us make it through to mid-40s. Before that becomes absolutely apparent that there is something wrong with me it was the fact that I couldn't walk upstairs. By the time I went to find out what was the matter. I was getting upstairs on all fours and had been doing for some time. So, once I was diagnosed, it's easier because then you know what you're dealing with. That's my journey at the moment.

 

Karl Freemyer  9:59  

Wow, the clinical manifestations in this disorder are not always clear cut, leading to an immediate diagnosis just as you just shared, and obviously, you reach a point where it becomes clearer. And in your case, it was fatigued walking upstairs. And that was apparent later in life. Allan, what kind of clinical manifestations did you experience? Did your family experience with your son as he was getting diagnosed? And 

that process was ongoing? Was there anything in particular that you guys noticed? 

 

Allan Muir  10:38  

Yes, he was a floppy baby. So, the first couple of years of life, he was, he didn't have the muscle strength to, to support himself, always. He would, it was quite amusing at times that, you know, if he were standing at a game playing and you make a joke, he would laugh so hard that he would fall over backwards. And you laugh about it now, but we were constantly picking him up. But also, his night times, were bad. They became, you know, parents become very frustrated and angry with a child. And you feel incredibly guilty about that afterwards. But what was happening was that he was waking throughout the night in hot sweats. And it was because his breathing wasn't as efficient as it should have been. So, his night time breathing, needed support, really, which he didn't get until much later in life. But you know, the carbon dioxide would be building up in in his body and causing him to sweat and to wake. 

So that was partly the reason that my wife took in local paediatrician initially mean that in the fact that he would actually stop breathing, it was like, particularly at night, he would see him with severe sleep apnea. He wouldn't be for a long time, but he was suddenly sort of grunt and snort and start breathing again. But it was disconcerting to see that. But he could also do it during the day, if he was angry or having a tantrum of some sort, he would actually, his throat would seem to close up and he stopped breathing. And so, by the age of two, my wife was screaming at the doctors that you must do something, because we know there's a problem here and he is going to die if you don't do something. But I don't hear that as a common story from people. But it was our experience. And we asked for his tonsils and adenoids to be removed because it had been suggested that that can help and that did cure his problem. As it happened. His breathing became, but his sleep apnea is stopped. And his breathing improved. But the crunch came when he actually had a respiratory and cardiac arrest. It stopped breathing one night. And in the morning, my wife found in blue. She was a midwife, so she managed to resuscitate him. But it was at that point, the medical profession took it very seriously. And after a few weeks, we got the diagnosis of Pompe disease, and no treatment as such just suggesting a high protein diet may work. But at least we knew what the problem was, and to try to do something with diet. He actually managed his own physiotherapy because kids do that they run about and he was always a determined child. So, he he'd run about eventually playing football with his friends. Not always coming last in a races at school, but second to last. But in fact, got good grades for his physical exercise. Because of the effort he put in, and I think that really served him well in later life.

 

Karl Freemyer  14:49  

Wow, that's a really amazing journey. The fact that he was inevitably diagnosed is a real relief I’d Imagine. My brother didn't have Pompe, he had paediatric leukaemia, but we went through a similar situation with him where we didn't have a diagnosis for a long time. And, one morning, he woke up with basically anaemia, his lips were blue. And it was that point, it was that breakthrough symptom that led to a diagnosis. So, I can understand how you must have been feeling there. And it is a bit of a relief, this but you know, despite the fact that it is a severe diagnosis, at least then you have a diagnosis and a prognosis and a treatment strategy. Right, you know, what you're facing?

 

Allan Muir  15:35  

Yes, I mean, I was a relief in in many ways, knowing what was causing the symptoms. But the medical books that I went out and bought, told me that he wouldn't survive his teens. And so, it was a difficult few years, you know, thinking that if we didn't get the diet, right, that maybe we would be responsible for an early death somewhere, you know, so it did create strain on the relationships and everything.

 

Karl Freemyer  16:12  

Undoubtedly. Yeah. So, Rowena, your journey was a little different, obviously, given that you were a late onset Pompe disease patient, were there any precursor manifestations that you felt prior to, you know, having the issues walking upstairs? Or was this a sudden onset of a symptom? Is there anything that really is markedly different from the perspective that Allan shared that you'd like to tell the listeners about the late on stage, Pompe disease onset?

 

Rowena   16:45  

It was interesting what Allan said about Jamie working with night sweat, because my mother says she didn't have me at home for the first three months because I was too little to come, to be out of hospital. But once she did have me home, she said she was forever buying the new pillows, because she said they were just wringing wet the whole time. You just couldn't know, whenever I've been asleep, I must have sweat so much in my head. And there must have been the same thing, because I wasn't breathing properly. But because they didn't realize what was wrong. And they just said it well, it was the baby. They said, let me cry as much as possible, because that would exercise the lungs. And I just managed to keep going. 

I fully sympathise with Jamie being second to last all the time. That's where I was. As for the school rope. I mean, I've got quite strong arms and shoulders, I could get onto the rope okay but as soon as it came to wrapping your legs round, and using muscles to move upwards, nothing happened. I can remember I'd be about seven or eight, go into a girl who was really good in the class at going up and saying, Joy, how do you do this because I can't do it. And we just didn't work out why I couldn't do it. But I couldn't swim properly. I know how to swim. But I couldn't swim more than across the pool and swim alone. I couldn't get out of the pool when I got in it because I can't go upwards. And the I couldn't walk up a hill very well. I can walk, I could in the past. As far as any other member of the family, when we went out for walks or whatever you try and take me to the Lake District where it's hilly, I couldn't do it. Since it's uphill, hopeless. I just don't have those muscles around my thighs to use. So, once I stopped being able to walk upstairs, it wasn't a case of being slow. Or it taking a long time or not being able to breathe through it. It was, I physically couldn't put my foot on the step and move upwards. It just doesn't happen. And now I've got that one doorstep is as much as I can manage and even then have to grab hold of the doors and pull myself in. Nearly all my movement that should be from the hips is coming from my shoulders. I can't turn over in bed. It just doesn't happen. And every movement comes from the shoulders really every upward movement. I press down with them to come up. You see what I mean? It's just a problem with Pompe is it affects so many different people in different ways. There's not one common symptom. Breathing is affected, walking is affected, but not always in the same ratio, or at the same time.

 

Karl Freemyer  20:25  

Understood, and obviously, that probably is a major contributor to why this is so commonly mis diagnosed. Right, that the difficulty in landing on a diagnosis is the heterogeneity of the population, but also the variance in these clinical manifestations at different stages of life, I presume, is that accurate? 

 

Allan Muir  20:50  

Yes, it is misdiagnosed. And I mean, the statistics quoted in the literature, which suggests there should be many times more people in the UK diagnosed and there are I don't know whether that will be true or not. But we do know that when, when people were screened, who had limb girdle muscular dystrophy, they did find a significant number of people who had Pompe. So that's that seems to be a very common misdiagnosis. But you do wonder if people who have say chronic fatigue or any if they were just given the test, maybe find an element or Pompe in there somewhere. 

 

Rowena  21:57  

Like Allan was saying earlier, Jamie would be alright, and then suddenly would go down. This is the thing, you wake up in the morning, hopefully, with a reasonable amount of energy. But it doesn't matter the day. So what you can do in the morning, you can't do in an evening. And I'm at the stage now. Because I can't have the drug because my body's rejected it. I only have a certain amount of energy per day. So the time I've got myself up and breakfasted. Quite a lot of that energy's gone. So I've got to look at the whole week as what I'm going to do because you just don’t have the energy to do everything I had to. It's one thing a day, apart from looking after myself, in general, what you have to do to life, this is my activity for the day. I won't do anything else except to feed myself and go to bed anymore. And if you overdo it, then you're liable to fall. And on the floor, I can't get up again. Absolutely no way. You really have to be careful all the time.

 

Allan Muir  23:24  

That is a common theme. Sure, it's a symptom, but fatigue was identified as a major symptom. Sometime after the drug was developed, I think actually, it was a survey that was done through the IPA and the Erasmus Medical Center in Rotterdam discovered a number of things that there are things that people don't talk about, like gastrointestinal problems that is very common as well. But the fatigue is, is quite debilitating because people find it affects their employment, you know, they cannot work a full day or certainly a full week. If they push it too hard one day, that writes off the next day. So you know, to have to manage energy levels as Rowena says a bit like the Spoon Theory. You only have so many spoons that you can use in a day.

 

Karl Freemyer  24:39  

That's interesting imagery. Yeah, I can't imagine having to choreograph your day and then ration your energy to accomplish the things that you would set out to do. And obviously, you know, variety is inherent in our lives, right? So you can't predict everything. So that's just one of those quality of life things that you don't even think about necessarily make sense? So on the treatments, you mentioned, Allan, there's enzyme replacement therapy, which becomes standard of care. How does that help with these symptoms? And these clinical manifestations? And? And ultimately, how does that mechanism impact the human physiology because obviously Pompe is impacting the physiology and in this treatment is counteracting that in some capacity. So let's have your perspective first, and then Rowena, we can get yours?

 

Allan Muir  25:31  

You have given us a slightly simplified version, I guess. But as it says, principally a muscle disease, which includes the heart and the enzyme replacement therapy has stabilized muscles in many people. And so, for instance, my son has been very stable for the last 15 to 16 years. That's not to say it will continue like that, because the evidence was, after a few years that after three or five years, the benefits started to wane a little bit, not massively, but the progress of the disease would continue to progress. But with the infants, the classical infants who would most likely die within their first year of life, it did work wonders on their heart, and their heart would reduce back to close to normal size. And I wouldn't say they could have a normal life because I don't think the standard dose is sufficient for most children. And, in fact, it's been modified kind of off licence in America and in the Netherlands, and I think in Taiwan, but in the UK, we might give children a chance of having a slightly higher dose, but it's not funded. Presently, that's the other thing that you must get the correct dose as soon as possible. And before symptoms really, ideally, so on the standard of care, if you're starting to progress, it's almost too late to put the dose up. But you will get some benefit from it, we would have. And so something that we campaigned for, through the drug companies is flexibility in dosing. And I think in the next generation of drugs, we will see a little bit of that. But I think adults find that they can carry on walking, perhaps increase their stamina a little bit. Breathing certainly improves state. But not massively, but at least, that the relief is generally that the disease will stop progressing. In fact, I had a lady in the Netherlands ring me when she got the drug before it was approved. And she said, Allan, it's wonderful. I said, but now I have to think of a pension. You know, and before that, she thought her life was going to be severely limited, but now she could see a bright future. So it was a huge psychological effect as well as the, the physical.

 

Karl Freemyer  28:52  

Thank you for that. And Rowena, how is your experience on treatment? And how did that impact kind of your physiology and your symptoms when you I know, you just said that your body can't tolerate treatment anymore, but maybe you can just walk us through that journey a little bit.

 

Rowena   29:10  

I started to notice that something was wrong. Before I was diagnosed, I was quite lucky as I was diagnosed within a year of going to my GP and saying, look, there's something wrong. And then I waited, I think about another three, three and a half years, because at that stage my drug was only in trial stage. So then it got the go ahead, and then I waited a little bit longer and then they suddenly said you need to go on it and I noticed, I think, which is common with a lot of people, for about the next 18 months, I felt better than I have done. And then I sort of stabilized back to where I've been. Then that was sort of a level playing field for perhaps the next three years. As I came up to the five-year point of having the enzyme replacement therapy, I started to get hives. And we had to give me antihistamine to get me through the infusion. And then it got really bad. And they decided to slow everything down. So the infusion would take four hours instead of two. And then after another 18 to 20 months, I started to reject again. And I did actually go on a trial for another drug. But I wasn't on it very long. And luckily, I was in hospital at the time, were you on a trial. And I just rejected it completely. I just passed out. By the time they got me sorted out, I was no longer on the trial. And afterwards, he said we can't put you back on the other one either. You just can't tolerate it. So my position now is that there is nothing else I can do apart from physio therapy. I'm very careful with diet, I'm careful not to get overtired. Because I've no way of picking up again, can't recover. And I worked till the end of that year, I was working in school. But not as a teacher, I was a school librarian. And I was only doing three days a week, but I only managed to do till the end of that year. And then I had to finish. Which is awkward, because I'm not yet old enough for my state pension. So there's been a rather nasty gap, which I'm having to manage. And I mean, now I regret having worked that last year, because I got so tired, and you never get that back. It doesn't matter what you do, you can't get back to how you were before. If you have a fall, and you're really not well, you never get back to exactly where you were, it's sort of a gradual decline, and then in lockdown I had to shield. I've had to be very, very careful. And I've lost a lot of walking ability in that time. Because the hospital was saying you just mustn't catch this virus, you mustn't go out. So that's fine. In many ways, I'm perfectly alright. But I have lots of walking ability. I'm now heading for an electric wheelchair, not to use all the time. But so the fact that when I go out, I can do more than just a very limited amount. So it's more gradual thing. But there's no stopping it without any treatment.

 

Karl Freemyer  33:41  

Understood. And your point about these chronic conditions being progressive, and it being very hard to get back to baseline, I fully understand and appreciate that point, even an error even in areas where you have acute and acute event, like an exertional heat stroke event where your body temperature rises to 104 degrees or higher. You run the risk then for many years thereafter of overheating as a result of just that one seminal event. And that's an acute event. So I can't even imagine the sort of ramifications of a chronic disease like Pompe that you're trying to manage over the course of a lifetime. So it's a great point you bring up and I thank you for sharing that. So just to focus in a little bit on a couple things you mentioned, we've talked about the clinical burden quite a bit. What about the economic burden of managing this this disorder? And also, are there any other perspectives on burden you'd like to share like a carer perspective, or familial perspective? Rowena, we'll start with you and then Allan, we'll hear your opinion.

 

Rowena  34:50  

Well, as I mentioned on the economic side, I was lucky in many ways in that I did have qualification and the career that allowed me to work part time. And I already had all those qualification things before I was diagnosed. For the young people who are diagnosed, before they finish their training or when they haven't even started. It limits everything that you do, because people don't want to train someone who may not be able to use the qualification. So the whole thing is very difficult. I mean, the economic side is hard. Think probably for me as well, I think with quite a lot of other late onset Pompe it destroys the marriages. Because you don't always have the understanding from the partner. And then the end, you have to decide between coping with your own life and managing that the 100% that you have to and the relationship and you just have to choose one or the other I’m afraid. And I think that's happened to quite a lot of instances, which is very difficult. But I think you've just got to take a deep breath and do what you know, you have to do in these cases.

 

Karl Freemyer  36:46  

That makes sense. Yeah, definitely the impact on the spouse is something that I can imagine would be very difficult because you try to put yourself in that other person's shoes, but it's always going to be difficult in that situation. I appreciate that point very much. And then, Allan, from your perspective, any burdens that we haven't mentioned? 

 

Allan  37:18  

Just to agree with Rowena, that when we went to our first patient meeting many years ago, before treatment, so children weren't surviving, we sat around the table to talk about our little boy. But we were on a table, a small table, and three of the families tell us about their children who subsequently all died, you know, so it wasn't looking good for our son at the time. But also, the parents were going through very hard time, relationships did break down. And so these diseases do put a huge pressure on, on relationships, and they don't always survive. And that's without this sort of some of the cultural aspects of life where it's seen as a disgrace, almost, but thankfully, we don't see too much of that in this country. But economically, yeah, I know that many people who are unable to work a full time, so their income is going to be diminished. If they can find employment that will take them I know people who work from home , for instance, and even then they weren't able to put in a full week. You know, it will be part time work, because that's all they are able to do. Thankfully, there are benefits available to people in the UK, at least. But there's benefits to try and supply transport for people on this fundamental ability a little bit doesn't always overcome the burden. The sort of hurdles which are put in the way, public transport isn't very disabled friendly at the moment. It's improving all the time, but it's certainly not there yet. And we have many examples of that.

 

Karl Freemyer  39:53  

That's a good point you bring up so even if you're in a white-collar vocation that isn't very labour intensive. You still do have to get to the office, you have to get to the lab, you have to travel to and fro and that in its itself, if you're choreographing your day, as Rowena said, that can take up a huge percentage of your fuel for the day. Right? And yeah. So, given where we are managing Pompe, what do you think is the number one unmet need? Is there a number one unmet need or a couple of unmet needs that exists? And, Allan, we'll get your perspective on that one first.

 

Allan  32:22  

I think it's well known that there is a variable response to the current therapy, and it works reasonably well for some, not for others. It's not a cure by any means. So, it stabilizes and gives some hope to individuals and families. Respiratory and muscle function can continue to decline that. And so, we do need something that is a little bit better, well, considerably better, rarely, but will sustain for comfort for much longer. When asked this question, a lot of patients say Well, yes, I want to, I'm very happy with my stable muscles being stabilized. But what I want to say is some return of muscle function. And there is a prospect for muscle regeneration, there is research in that area, but a long way to go. Muscle function may be improved by drugs, or even electrical stimulation to improve the signal from the brain central nervous system to the muscle, because there is glycogen storage involved in that pathway. And that still has some potential for improvement there I guess.

 

Rowena  34:00  

I think that is right, we need the drug companies in the medical profession to keep looking at us to find other ways to help, enzyme replacement therapy is marvellous if you can have it. But I can't be the only one who's they have said no. And we just need something else, and we need something that will look at different areas. But Allan will say, just somehow stimulate the walking and the movement, but also perhaps something else for the diaphragm for the chest. There's so much involved, that can go wrong with Pompe that no one thing is going to be sufficient for us, we need various types of therapists aimed at different parts of us or needs as the disease progresses.

 

Karl  35:14  

Understood. Yeah. And on that note, do you think that today the education level, on the physician side, the caregiver side? Has it improved? Since you were first diagnosed? Can we get better? How equipped are physicians to make an accurate diagnosis at various stages of Pompe diseases onset and to treat it effectively?

 

Rowena  35:36  

I think in the 18 years that I've been involved; I think things have come on incredibly. And I'm very lucky in the hospital I attend, because they don't just look at what they perceive to be the effects of the Pompe. They look at the whole person. I see neurologist, I see physios, I see less specialists in the pond pay. When I need, there will be chess consultants there, you know, they are, they are getting a lot, a lot better, or they are very good. But they are always increasing. And the way they looked as it's just that they understand or there's still an awful long way to go. And without some more drugs, there's nothing I can do anyway. So but I think there is an awful lot more to be learned about this disease. And I would like some research to be done into our carriers, because I think that would get a lot of insight as well, particularly as they get older. And just general recognition that some people get I have but some people I think perhaps don't get that this is a lifelong disease. I mean, at my age now in my mid-60s, my muscles are in my mid-80s. I mean, the things that I've experienced, I wouldn't have experienced for another 20 years. And I just have to deal with that. And you've just got to keep going and keep positive. Because there isn't anything else. Please can we have something else to help? Because it's going to be a long haul to get through to late 80s, which I am determined to do. But yeah, it's not easy. When you haven't anything to take, give you a help every so often, or even a one off like one off gene therapy for the diaphragm or something like that, say, we just need all the help and information and knowledge that can be got.

 

Karl  38:02  

Your point on understanding the burden of carriers had resonated with me, especially given the emphasis today in drug development on precision medicines, where we try to understand what genetic variant is driving a phenotypic characteristic. And then how penetrant is that genetic variant in that characteristic. So, there could be people , I think you kind of intimated this, that actually have a genetic variant for Pompe. But the manifestations, the penetrance of the gene aren't strong enough to even necessarily make a clinical diagnosis during your life. But you're still struggling with some of the side effects effectively are the symptoms. And then there's others who have it very penetrant gene and it impacts your physical characteristics substantially from an early age. So, it's, I think, as we evolve our understanding of that we will decode the condition and then and then be able to treat it and better.

 

Allan  38:59  

My thoughts about the education of physicians and the health teams. I guess it's something that I've been aware of for a long time, because when our son was diagnosed, there was very little known about Pompe disease at the time. 

In fact, it was proper disease in children, but in adults, it would be known as acid maltase deficiency or AMD. And they were almost treated as different conditions. And it was, as you might expect, neurologists would manage care for most of the adults. Now that there are treatment centres in the UK, for adults, there are five in England, and then we have Wales and Scotland, but they're mostly lysosomal storage disease specialties, which are metabolic clinics. 

So, we do still have one or two neurologists who have a strong interest in Pompey, which is good. But the, the knowledge has been distributed a little bit differently. But, you know, for example, we will have some of our best metabolic consultants now lecturing on Pompe Disease, as they treat them, and they see them day to day, and so they are very knowledgeable. But it I guess that's good. In the end, there was a debate about the specialized centres of whether you should concentrate the knowledge in one place or or try to spread the knowledge wider across so many more clinics, many more physicians, health care professionals, but I think we've got quite a good situation in the UK, and we're very happy with the relationship we have with them. They clearly have a lot of work to do. And so sometimes their ability to push research forward is not what we would like. But at the moment industry does seem to be doing that, pushing the boundaries a little bit further. 

And we have international centres, that's the other thing that we are well connected internationally. That's how we started and how the drug was developed as a sort of patient organisations, to opinion leaders, which there were very few, you know, the research scientists in Holland and America, Australia, working together, and that was how the drug, the first enzyme Replacement Therapy came to be. And there is still that global collaboration between the whole Pompe community, which is so vital to get good quality drugs that meet the needs of the patients. In fact, we did write a paper on that which was called the Pompe model. Because at the time, we felt it was pretty unique. The way that all the professionals and patient groups worked very closely together, which brought about the result we needed.

Rowena

I think like Allan, there's a long way to go, but I feel, having been at two of the centres in this country, we do have reasonable coverage. It may be that people still find it difficult to get the diagnosis they need. If they can't get it from their GP, perhaps, but I think things are improving a lot. And as Allan said the more research and the more information we know; the more doctors and patients are going to find out a lot more about it and people are going to realise what's wrong with them. 

 

Allan

That's a good point, actually. One thing we haven't discussed is the diagnostic journey for most people, which is still far too long. I guess we can't educate the whole of the medical profession. Many of them will have heard of Pompe at medical school, but very briefly. We do interact with other charities and the medical professionals to try and improve that. There's an organisation called medics for rare diseases, which is trying to enhance that education of medical students and young medics, get them interested in metabolic medicine and with the hopes that they will be able to identify these rare diseases much earlier.

 

But the other thing of course we need to do for instance, is newborn screening. Because infants, classical infants Pompe disease must be treated very early within the first month of life. And what we see quite often, what we have seen in the past is that a sibling would be diagnosed early, only because his brother or sister had died and we don't want to see that.

 

But when they are diagnosed early, if they're treated within a matter of weeks and given the right dose of the drug to, to make sure that later on they can have the best life possible. They can do very, very well. And hopefully some of these new drugs coming along and maybe the gene therapies and other medicines will do even better next time, only time will tell.

 

Karl

Absolutely. There’s great horizon in medicine, right? We're always sitting on the shoulders of giants with advanced innovation and, and that's the optimistic part of this whole journey, which I think it's a nice way to sort of cap this off. Thank you, Allan.

So, thank you, Allan, and Rowena for sharing your perspectives today. 
 As always, it's super humbling to hear what you've been through and what you currently going through. And I just want you to both. Certainly, Guy and myself were inspired by your journey. And I know people that are listening to this will feel the same way. So, thank you for all that you do. And thank you for sharing your perspective before we totally wrap up is there anything else you wanted to say to the listeners? 
 
 Allan

Well, I think like Rowena said, we could probably talk about this subject for hours, much longer than somebody who would want to sit and listen to a podcast, but. I think we've covered most of what I would have said. 

 

 

Karl

Thank you both. Absolutely. It's been a real pleasure to spend this time together and we  appreciate it very much. And we'll hopefully speak with you soon, especially if we get a big advance in treatment and then  it would be nice to have you guys back on to share your perspective on that one.