Episode 37: Will Greene, Prader-Willi Syndrome patient advocate, Healthcare Engagement Lead at Roche

Episode 37 January 24, 2024 00:41:31
Episode 37: Will Greene, Prader-Willi Syndrome patient advocate, Healthcare Engagement Lead at Roche
Few & Far Between
Episode 37: Will Greene, Prader-Willi Syndrome patient advocate, Healthcare Engagement Lead at Roche

Jan 24 2024 | 00:41:31

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Show Notes

"The history of rare disease drug development indicates that once you start looking harder for cases, you often tend to find them." - Will Greene, Prader-Willi syndrome patient advocate and Healthcare Engagement Lead at Roche

Welcome to Biorasi's first Few & Far Between episode of 2024! Join host Chris O'Brien and guest Will Greene, Prader-Willi syndrome (PWS) patient advocate and Healthcare Engagement Lead at Roche, as they explore rare disease diagnoses and the importance of newborn screening as a public health tool.

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Episode Transcript

[00:00:16] Speaker A: Hello and welcome to the few and far between podcast. I'm your host, Chris O'Brien, CEO of Biorassi. Embracing the philosophy of find your tribe, connecting with like minded individuals can lead you on either a personal or professional journey. Our next guest is finding a way to bring both pathways together and create a new course for his life in rare disease advocacy. Will Green is a healthcare engagement lead at Roche Diagnostics, Asia Pacific. He is also the parent of a child with Prod Willie syndrome, or PWS, a rare disease characterized by developmental delays and hyperphagia sensations of extreme hunger. This diagnosis has led Will to new discoveries about himself and the importance of being at the epicenter of rare disease advocacy and drug development. Will and I had a chance to talk about his family's diagnosis journey outside the US, the Prodar Willie community, and his focus on next generation sequencing as the key driver in expanding coverage for newborn screening. It was a great conversation, and I hope you enjoy the episode. Okay, let's start the podcast. Will Green, welcome to few and far between. [00:01:27] Speaker B: Hi Chris. Great to be here. [00:01:29] Speaker A: There's lots of stuff that we can cover today and lots that will be interesting. But let's start with your own personal journey into rare disease. Would you tell me a little bit about how that first started, the path to diagnosis and kind of all that stuff? [00:01:43] Speaker B: Well, my journey into rare disease was very unexpected, and it was unexpected for multiple reasons. The first is, to be honest, before my son was born, I never really thought that much about rare disease. I didn't know so many people with rare diseases, and I never worked in the rare disease space, so I had only vaguely heard of this whole field in general. But when my son was born and he was diagnosed very quickly with a rare disease, I realized just how dynamic and large a community this is, and realized very quickly it was something that I wanted very much to be a part of. [00:02:16] Speaker A: So let's zoom in a little. Your son is born. And then what happened? What were the indicators that there might be a condition? And tell us a little bit about your path to a diagnosis, if you would. [00:02:26] Speaker B: Sure. So there were no signs or symptoms before he was born that anything was wrong. But when he was born, he came out low birth weights, developmentally delayed, would not cry or suck, and generally had what is clinically referred to as hypotonia. So his body was like a rag doll. And so pretty quickly, our neonatal pediatrician realized that something was wrong, something was off, and took our son over to the neonatal intensive care unit, where, after a couple of days of observation based on the clinical signs and symptoms. He said he thinks our son has Prudder Willie syndrome, but it would need to be confirmed by a genetic diagnosis. So that was the point at which we realized, whoa, all of a sudden we were part of this whole prodar Willie and rare disease world. And we went through the whole diagnostic experience. We considered a few different testing options. We ultimately went for a straightforward dna methylation test that confirmed the Prader Willie diagnosis. And that was at about five weeks that we found out for sure that we were very much for life on this path. As rare disease caregivers and advocates, how. [00:03:31] Speaker A: Did you decide on that particular diagnostic path? Or was that obvious? Is that the strong recommendation you got from people? Maybe you can share with us where you were and what you were doing, but you were outside of the US healthcare system for sure. [00:03:44] Speaker B: Yeah. And it's an interesting question because we did have multiple diagnostic approaches that were offered to us as possibilities for figuring out what exactly was wrong with our son based on the clinical signs and symptoms he showed at birth. So the first option was what we ultimately chose, which was a straightforward dna methylation test that more or less rules in or out protter Willie syndrome. We were also told that we could consider a neuromuscular panel test that might cast a slightly wider net and cover a few hundred conditions. And then we also were asked to consider if we wanted to do whole genome sequencing. Now, at the time we were in the NICU, we were tired, we were scared. We didn't really have a lot of mental bandwidth to consider these options carefully. And so at first we jumped at whole genome sequencing based on the simple logic that, well, it's the whole genome and so therefore it's most likely to pick up whatever condition it is. And even though the clinical signs and symptoms pointed strongly towards Prader Willie, it was not definitive based on observation what was wrong. So we ended up going to the lab, getting a trio blood draw, having that sample shipped off to the US and starting the process of waiting for results. However, through that process, we decided to change TaC. And the simple reason why was that when we ordered the whole genome sequencing test, we were told by the pediatrician at the time, who was a pediatric neurologist, that it would cost $5,000 US. When we got the bill at the hospital, it actually turned out to be $10,000. And this is a point at which we said, whoa, whoa, whoa, hold on 1 second. This is way more expensive than we thought. Let's stop, let's take a moment, let's think a little more carefully. And because in Singapore, the level of insurance coverage for rare disease diagnostics, clinical care medicine, et cetera, is extremely limited and practically nonexistent, we had to be very conscious about money at that time, and therefore we decided to change course. Just do the dna methylation test to rule in or out Prader Willie and then go from there. And lo and behold, that one test did confirm that he did have the condition. [00:05:46] Speaker A: Was your physician giving you advice on this or were you guys really kind of operating on your own? [00:05:51] Speaker B: Our physician presented these different options and was sort of half advising us to go with a more stepwise approach, but she was really putting a lot of the decision on our shoulders. And so we spent about six to 12 hours thinking about it, going back and forth, asking more questions. She did tell us that we were more likely to get a definitive diagnosis through whole genome sequencing, but that more people would typically go with a more stepwise approach. And she was more or less saying, take a decision. And so, therefore, with all that uncertainty, we initially took a decision that probably, in retrospect, was not the right decision for multiple reasons. And therefore, we did end up, though, on the plus side, with the right decision with the test that was targeted towards our son's condition and which confirmed what we needed to know. [00:06:40] Speaker A: Yeah, for a rare disease, this is an incredibly fast diagnostic path. Right. You knew, how old was your son when you had a confirmed diagnosis? [00:06:47] Speaker B: It was approximately five weeks that he was confirmed. And, yes, we realized in retrospect that we were actually quite lucky. Lucky on multiple accounts, lucky that we had a neonatal pediatrician who could spot the signs and symptoms of Prader Willie syndrome quickly and therefore put us on the path towards diagnosis right away. And then lucky also, you could sort of say lucky that he had a condition that was easily identifiable with the test that we chose, because I think we all know in the rare disease community that that's not normal. In fact, many parents and patients will go years from specialist to specialist, bouncing around, trying to make sense of an increasingly worrying set of symptoms, and only finally getting a diagnosis after years of effort, huge amounts of cost and all sorts of emotional turmoil. So we feel, in some ways, unlucky that we have to deal with a very challenging condition, but we also feel lucky that we weren't one of these people who went on a lengthy diagnostic odyssey and lost lots of time in the quest to figure out what to do. [00:07:47] Speaker A: Now, I'm sure most parents in a similar situation would prefer what happened to you than a long diagnostic journey. But I guess in a way, the downside, if you will, of a quick diagnosis is you had to make these decisions, I guess, kind of on your own. Whereas we've talked to some folks in the past who found a community that could sort of guide them through process, whether that was to treatment or at least through diagnostic options, let's say. So you guys didn't have that, is that right? Did you find a Prader Willie community afterwards? Talk a little bit about that, please. [00:08:14] Speaker B: Yeah. So it was after we got the definitive diagnosis that we started really diving deep into the Prader Willie community. And fortunately, pretty quickly, we found our way to a few patient organizations and also a few parents of children with Prader Willie who were able to advise us on a whole range of things, everything from clinical care and treatment to potentially further diagnostics if needed. Because in the case of Prod Willie, as is the case with some other rare diseases, there are multiple subtypes. And therefore, after you get the confirmed high level genetic diagnosis that it is, Praderwilli, some people choose to go on subsequent set of steps to determine what subtype it is. But that's in and of itself a difficult decision. How? When do you go about that? Does it provide clinically actionable information? Is it something that's worth the money? These are all things that are up for grabs. Unfortunately, we did find our way to patient groups that advised us on that, as well as so many other aspects of care that allowed us to get started very quickly in caring for our son and giving him what he needs to have the best shot at a full and hopefully somewhat independent life. [00:09:21] Speaker A: So we will tag in the podcast description, Prod or Willie. So let's spend a couple of minutes on this. Now, tell us a little bit about the syndrome and maybe treatment options and the path into the clinic and how things look from the parent's perspective. If you're advising another parent who's starting this journey. [00:09:37] Speaker B: Yeah. So Prodder Willie syndrome is a complex genetic disease that occurs due to something going awry on a region of the chromosome called chromosome 15 q. And so it's not a monogenic disease, it's a chromosomal condition that impacts multiple genes, and the exact mechanisms of action are not fully understood. It's because it's a complex disease. It's something that scientists are still working hard to understand exactly the nature of. But the result of this genetic defect, if you will, is a wide spectrum of developmental, medical, and behavioral issues that can be very challenging to manage over the life course. So on the developmental and cognitive side, many children with proper Williams syndrome tend to have what they call mild to moderate intellectual disability. In terms of the medical side, they often have a range of health conditions. They're prone to scoliosis, diabetes, other types of medical issues. But the single hardest aspect of the condition for many caregivers and many people living with the disease, as widely reported and studied, is the behavioral issues associated with the condition. And so children with prodarwilli tend to have a wide spectrum of behavioral problems. They tend to have obsessive compulsive issues, anxiety. But the single worst aspect of those is what they call hyperphasia. So this is a situation in which children, and often young adults, and even adults, too, with prod or willie, just feel hungry all the time, no matter what they eat, no matter how much they eat, no matter when they eat. And so when you combine this sensation of constant hunger or constant preoccupation with food, with the intellectual disabilities that make it harder to self regulate and understand social context, you often end up with children who become morbidly obese because they're eating constantly and eating far beyond what makes sense for them. And so this is part of a broader metabolic dysregulation that also predisposes them to be obese and have diabetes and a whole wide spectrum of issues. So this is something that makes life very, very challenging for many patients and caregivers. We hear stories in the community of people who have to literally lock their fridges or their kitchens to prevent their children from compulsively seeking food, installing motion sensor cameras, locking the doors at night to their house to make sure that their children don't run away. This food seeking behavior due to hyperphasia, it doesn't impact all children with prodder Willie, but it impacts a lot of them. And it's something that really is a nightmare scenario for many parents and caregivers. [00:12:07] Speaker A: Let's talk about treatment. What are treatment options? Are there mitigants? Are there tools the parents are deploying? [00:12:12] Speaker B: What I can say about treatments is that there have been decades of research now into treatments. And so far, the only truly approved and widely established treatment for the condition is growth hormone therapy, which typically starts at a very young age. In our case, our family started it at about five months. Some families start even earlier. Many families start later. Typically, it's recommended to start within the first few years. And what this does is it helps to normalize some of the developmental issues associated with the condition. So children who get on growth hormone tend to do better across many parameters, cognitively, physically. But it seems that growth hormone does not address some of the behavioral issues, at least substantially enough to make parents feel like they have enough in their medical arsenal to address the condition. So, as of now, on top of growth hormone, there is a pretty exciting pipeline of medicines that are being developed to treat a wide variety of different symptoms associated with the condition. But many of those treatments are specifically geared towards hyperphasia and some of the behavioral issues associated with the condition. And some of them, at this point, are in late stage trials and showing somewhat promising results. So, for a young parent like myself, there's actually quite a bit of hope that by the time our son grows up and reaches the point at which some of these behavioral issues become a factor in our lives, that there will be medicines to treat them. But we're not sure that's going to be the case. And that's why we as a family, feel it's so important to support research and support the patient groups that are driving a lot of these trials and are driving a lot of the basic science that's providing hope of better treatment options for the future. [00:13:51] Speaker A: And will, is there excitement or thinking about ozempic and the new class of anti obesity drugs that are coming online? Are those something that's possibly relevant here, or you don't know, or not so. [00:14:01] Speaker B: Much so I actually haven't myself heard of any serious evaluation of these medicines in the context of Prader Willy right now. I'm sure there are some people who are thinking about that, some people who are excited about that. However, what I will say is that the history of drug development in Prader Willie does indicate that treatments that work on the general population don't necessarily, and often don't at all work on the Prader Willie population. And the reason being that the Prader Willie brain and body are actually much different from that of the general population. So I've heard in the past of, for example, anxiety medicines or sleep medicines or other types of standard medicines that are used in a more general population, being tried on the Prader Willie population with mixed or negative results. And so, therefore, I don't want to be so blase as to think that these upcoming medicines that are being developed for a general population of people who are trying to control their weight is going to work for my son. So, therefore, we got to keep the funding going and keep the research going to try all these other approaches and therapies, because this is the single biggest issue in Praderwilli for many families, and it may be for mine, too. This hyperphasia, this anxiety, all of this food seeking and behavioral issues. [00:15:17] Speaker A: Well, do you have a sense of how big the patient population is here? [00:15:20] Speaker B: Yeah, here, too, we have a pretty good general sense, but a lot of the details are still being fleshed out based on ongoing research and inquiry. But at a high level, Prader really impacts roughly one in 15 to one in 20,000 people today. This is what is believed to be the case, and it is what some data seems to suggest is the case. However, there are some arguments to say it might be a little more prevalent than what we believe to be the case today. And so there is a researcher down in Australia right now who is pioneering a newborn screening test for protter Willie, which holds promise to have unbiased diagnosis and screening of the condition, which might actually alert us to cases that are not being diagnosed early or at all. And so, therefore, as with many rare diseases, in the case of Willie, we have a decent high level ballpark figure, but there's still a lot that's not known about the disease, and it's not being screened and diagnosed for in many places. So therefore, a lot of cases are being missed. So we think it's one in 15,000, which translates to a few hundred thousand cases globally. But we're not totally sure yet. And I think also the history of rare disease drug development indicates that once you start looking harder for cases, you often tend to find them. [00:16:34] Speaker A: Yeah, great point. Hi, this is Chris O'Brien, host of few and far between. We'll be right back with this episode in a moment. I personally want to thank you for listening to our podcast. Now in our third season, it continues to be an amazing opportunity to speak with some of the top thought leaders in the clinical trials industry. If you're enjoying this episode, please leave us a review on Apple Podcasts. It really helps people discover the podcast. And don't forget to subscribe to few and far between so that you never miss an episode. One last request. Know someone with a great story. You'd like to hear me interview? Reach out to us at [email protected] thank you. And now back to the podcast. Okay, so you are now, this kind of catalyzed a move for you into the rare disease space. So will you talk a little bit about what you're doing, your current project at Roche, and kind of where you see this evolving for yourself. I know that this is increasingly central to what you see as your life's work? [00:17:39] Speaker B: Well, it is. And so in terms of my day job, I work for Roche Diagnostics Asia Pacific out of their Asia Pacific regional office in Singapore. And my job today is what's called the healthcare engagement lead for the organization. And what I do for this organization, which is a market leader in laboratory diagnosis, is that I work with all the different business teams and many other different stakeholder groups within the company to define key priorities for thought leadership and strategic business development and stakeholder engagement. So it's this awesome strategic job where I get to work across the entire company, across an entire region. I get to go all over Asia, meeting experts in various fields related to clinical lab diagnostics and broader healthcare transformation themes. But I don't do, and I historically have not done very much in the rare disease space for the simple reason being that my company has a relatively small footprint in rare disease diagnostics. However, after the diagnosis of my son, I decided pretty quickly that I wanted to align my personal situation with my professional work. And so I wanted to do more in the space of rare disease, professionally as well as personally. And fortunately, Roche, because it's part of Roche Diagnostics, because it's part of the Roche group, which happens to have a large pharmaceutical division, which happens to have a relatively substantial portfolio in the rare disease medicine space, I was able to find people across the company who were willing to work with me on various rare disease oriented projects that did link back to my day job in some ways in rare disease diagnostics. And so Roche has been a great platform for building out some of those projects and some of that expertise. And my long term goal professionally is to do this full time. Right now I'm still doing it about half time. I'm spending about half my time on rare disease topics and rare disease diagnostics, and then the other half the time working on all the usual stuff for the day to day business in Roche diagnostics, things like oncology and sepsis and infectious disease and women's health and the kinds of areas where the company excels. But more and more thinking towards a future where I want to specialize in rare disease. [00:19:45] Speaker A: That's great. I think the rare disease community will be lucky to get more of your time. So tell us a little bit about newborn screening and rare disease diagnostics. How has this changed and where do you see it going? Equally importantly, so I think many of our listeners may have some familiarity with genetic testing, but things are changing almost in real time. So tell us a little bit about where you see the state of things now, and I don't know what you think the next couple of years might look like. [00:20:11] Speaker B: Yeah. So just to rewind, when I started poking around within Roche and looking for opportunities to get experience and exposure to the rare disease space, I started on the side of rare disease diagnostics because I work for the diagnostics division and I didn't find so many people who were dialed into that space. I found a few, and I found a few projects that were ongoing. But when I went over to the pharma side, I realized that actually they were very interested in rare disease diagnostics to help drive identification of patients for their medicines. And also that newborn screening was an area that various groups within the company had focused on. So I started to look into this topic of newborn screening, something that I honestly, even as a clinical lab diagnostics industry professional for nearly five years, it's not something that I thought very much about. And as I started digging into it, I realized that it was a very important public health tool for detecting and managing a certain limited spectrum of rare genetic diseases. And also that it's a really innovative and dynamic segment of the rare disease space because it's being impacted by all these new technological innovations that promise to increase its size, scale and impact dramatically. So it ended up being quite a fun little niche to start digging into. And it's where a lot of my professional work is currently focused. [00:21:29] Speaker A: Where are we in the change curve? Is it nearly vertical or is it 45 degree angle? Five degree angle. How fast are rare disease diagnostics, or newborn diagnostics in general changing right now? [00:21:39] Speaker B: Well, I'll start with newborn diagnostics because, of course, rare disease diagnostics, it's a very broad space that can encompass everything from non invasive prenatal testing to newborn screening, to pediatric or even adult diagnostics technologies. Much of my work has been in newborn screening over the last few years, and that's where I have the most visibility on how things are changing. And what I can say is that from a technological development perspective and from a research perspective, the change is quite exciting and dramatic. Many groups around the world are currently piloting and pioneering NGS based approaches to newborn screening that promise to increase the panel sizes of these newborn screening test kits fairly substantially. [00:22:23] Speaker A: Let's spell out ngs for folks who might not be familiar. [00:22:25] Speaker B: Sure, NGS means next generation sequencing, and so it is based on sequencing technology. And today, most newborn screening systems are actually using a slightly older and more well established set of technologies, including something called tandem mass spectrometry, as well as some molecular tests and other types of testing modalities. And many of these modalities are such that have been in place for, in some cases, decades, and which are well established in terms of their clinical utility and in terms of their accuracy and in terms of the overall benefits that they produce for health systems when used towards a limited set of conditions related to rare genetic diseases. The problem with these technologies and the overall systems that encompass them is that they tend to be publicly funded and they tend to be relatively limited in their coverage. So today, the largest newborn screening systems in places like the United States and Australia and Italy and a few other leading countries tend to only cover 40, 50, 60 conditions. But we know that there are thousands and thousands of rare genetic diseases, and at this point, there are hundreds that we know that will benefit from early intervention and treatment. And so, therefore, the difference between what the legacy technologies are doing today and what is possible based on these novel sequencing technologies is actually becoming wider and wider. And there are many groups around the world who believe, and who are studying how to put those sequencing technologies into practice for newborn screening and go from 50 or 60 to 500 or 600, and maybe one day thousands of conditions relatively quickly. [00:24:07] Speaker A: So that's really exciting. Obviously, what are the biggest obstacles to that change? Is it an expense thing? Is it technology adoption? Is it awareness? What do you think stands in the way of that thrilling potential? [00:24:19] Speaker B: There are multiple obstacles, and one of the first key obstacles is that public health systems, especially, and also payers of various sorts, need more data just to know for sure that these systems work, that they produce clinical benefits, and that also that the implementation doesn't lead to adverse, unexpected consequences. There are a lot of people who legitimately fear that providing too much genomic information to clinicians and individuals before those people are ready to actually make sense of all that information, could lead to more harm than good. It could lead to people having in some cases, a false sense of security or a false sense of danger, and acting in ways that are not in the best interests of the patients. And so I think, first and foremost, when we talk about obstacles, we still need to build out that evidence base. However, that being said, the evidence base right now is still large enough to say, hey, this looks pretty good, this looks pretty exciting. It looks like it's on its way. So that's obstacle number one is the evidence base. I would say obstacle number two is perhaps the willingness of healthcare systems, clinicians and patients to pick up these technologies. So just because they're there doesn't mean that people are going to flock to them. But what I can tell you is not an obstacle, or increasingly not an obstacle is the cost, because the cost of these systems is dropping dramatically to the point where we're looking at being able to do newborn genomic sequencing within the next five to ten years for hundreds of dollars per patient. [00:25:47] Speaker A: Yeah. Stunning. [00:25:48] Speaker B: So going from the $10,000 that I was looking at when my son was supposedly going to get diagnosed via that approach, to now hundreds of dollars for potentially whole genome sequencing, it's not there yet. We're still years and years away, but everything is moving in that direction. And so therefore, the cost increasingly is not going to be the obstacle. [00:26:09] Speaker A: And I guess we've come down from $100,000 and not so long before, millions of dollars in order to achieve some version of this result, probably with higher fidelity now sort of more actionable data as well. Yeah, that's really exciting. Let's go back to the point you made about, I guess I'll call it the sort of ethical deployment of access to this kind of information. What's your view on this? Do you think this is something we have to proceed cautiously with, or do you lean towards sharing that information with parents and caregivers more broadly? [00:26:37] Speaker B: What are your thoughts on my side? I lean less towards caution and more towards rapid adoption and acceleration. And I do believe it is really important to make sure that people can opt out or opt in with appropriate consents. That's critical because some people may genuinely not feel ready or want this information, and if they don't, that's up to them individually. But I feel like, especially for parents of young children who have clinical signs and symptoms of genetic disease, it's really important to pursue the best quality diagnostics as quickly as possible and not delay. And I almost will say that delaying is almost bad for children. We want to go and we want to figure out as quickly as possible when something looks wrong, what's going on, so we can engage in proactive treatments if available. There are some people, however, who would rather delay decisions, who would rather not see these things diagnosed early, who might say, well, if there's nothing I can do, or if there's no treatment, or if he's fine now and it's later, that it's going to happen. I would rather not know, I'd rather not doing anything about it, and I would say that's up to the individual. But I really hope that for parents who are facing a situation of a potential rare disease, or who have a confirmed rare disease, that they get into high gear as quickly as possible, get involved in research, get involved in patient advocacy groups, get going, because for many of these conditions, the outcomes are quite scary and the availability of treatments is quite limited or nonexistent. And really, the entire field benefits when more of us in the community get active and get involved, and when more of us get active and get involved early and quickly and proactively. So I believe, personally, that these types of technologies should be deployed more widely and in the right way so that more parents can know more quickly if they're facing a situation like mine. [00:28:31] Speaker A: Yeah, I think you said that really well. If a parent doesn't want to know, I think that would be regrettable. But the parent's decision, parents choice. But I would hate to think that medical gatekeepers were not encouraging parents to pursue this kind of information and get to diagnosis as quickly as possible, even if the diagnosis is a tough one. I think my view is families are better off knowing, and in many cases, there is stuff they can do. Okay, so let's switch to that. So if you are, imagine you are a generic person who has a generic child who has a generic rare disease. How should that person get started with starting to get educated, getting involved? What do they do first? [00:29:06] Speaker B: I think that one of the most important things to do first is to find your tribe, connect with other parents, or connect with a patient group if it's available now. For better or worse, there are a lot of patient groups today, and many of them are quite good, but not all of them are particularly large or active or well funded. And it may be the case that this generic person is facing a more ultra rare disease where there isn't an active patient community or caregiver community, or clinician expert knowledge base that they can tap into. And so when they face that type of situation, there are special communities that help people with ultra rare diseases broadly. And those communities might be the tribe that could be a starting point for a parent of a child with an ultra rare disease. If it's a rare disease, a more generic, like one in 5001 in 10,000 type of situation, there probably already is a patient group somewhere. It's probably already been around for a while. And if you can plug yourself into that, that's one of the best things I believe you can do. And one thing I think that most parents should also do, but should do with caution, of course. Ingest as much information as you can. Go Google away. I know Google sometimes has outdated information, sometimes might lead you to information that's inaccurate. And so that can happen too, and that's the danger. But certainly, you want to go and find out as much as you can about this condition, but also about the broader field of rare disease patient advocacy and drug development and diagnostics and clinical care and all that kind of stuff, too, because with many of these rare genetic diseases, these are really tough, complex conditions that will require, in some cases, a lifetime of care from a multidisciplinary care team. So there's a lot that you'll need to learn, a lot that needs to be coordinated, a lot that needs to be prepared for. I would just say, get going. Don't kick the can down the road. Start learning, start networking as quickly as possible so you can give your child the best possible shot at the best possible future. [00:31:13] Speaker A: That's a wonderful call to arms, and I love the idea of find your tribe. If someone does have an ultra rare disease on their hands, are there specific places they should go and look, or should they just be googling resources for patients with ultra rare diseases and anything specific you want to name? [00:31:29] Speaker B: Well, I can't say that I'm an expert in ultra rare diseases. I mean, fortunately or unfortunately, my son is not in that category. But there are a few communities that I did come across in my whole care journey and my journey into patient advocacy that I could call out. So the first, and this comes before diagnosis, it's an organization that I read about not too long ago that I was intrigued by, is called the Undiagnosed Diseases foundation. It's actually this nationwide network of clinical sites dedicated to solving medical mysteries and so helping people who have been going through a lengthy diagnostic odyssey, and perhaps due to the ultra rarity of their child's condition or their own condition, have not been able to find a diagnosis. And so this organization has these teams of experts in genomics and rare disease and everything else that you need to solve these types of medical mysteries. And so I thought that that was a really fantastic concept, and I'm happy that organizations like that exist also. Most likely the big pan patient advocacy organizations, like the organizations of organizations like global genes or Nord or eurodis in Europe. They also almost certainly have resources in subcommunities for ultra rare conditions, too. So those are also great organizations as a potential starting point to help navigate the broader journey in terms of caring for a child with one of these conditions. [00:32:56] Speaker A: Terrific. Are there any rare disease organizations, patient organizations, advocacy groups that you can point to if someone wants to see what excellent looks like? Were there any that stood out to you? [00:33:06] Speaker B: Yeah. So there are some patient advocacy groups that have set the standard for how patient advocacy can progress, some of which have been around for decades, have raised millions or in some cases even billions of dollars for research and clinical care. Some of the ones that are best known as really being trailblazers in the field are the Cystic Fibrosis foundation, which was one of the first rare disease patient organizations to raise huge amounts of money and drive towards at this point, turning a condition that was once almost uniformly fatal and terribly fatal, often in early adolescence, to now a manageable condition where people can live long, relatively full, relatively healthy lives, where they can contribute to society and in some cases, give back to the cystic fibrosis community through research or fundraising. And I've heard stories like that. [00:33:58] Speaker A: Extraordinary. [00:33:59] Speaker B: So that's one example. I would also say the organization that I'm part of, while not quite as long standing as the cystic Fibrosis foundation, has done tremendous work in the more or less two decades that it's been around. This is the foundation for Prader Willie Research. It is a parent founded, research focused patient organization that has raised around $20 million for research over the life of its tenure in the space, and which has not necessarily gotten us to cure or even highly effective treatments yet. But if you look at all the effort that they've done over the last 20 years, they've built a lot of the infrastructure to make our community research ready. So a lot of the data is there from patient registries. A lot of the basic science has been funded through the foundation and through other organizations to understand some of the basic underlying mechanisms of how this condition works. And thanks to an organization like that, parents like myself, who are still very new in this journey, have a lot of hope for the future. And I got to say, beyond just research, even in terms of the general work they're doing, in terms of community building, content creation, even a little bit of policy advocacy, too, they're doing a lot of great work. So shout out to the foundation for Prader Willie Research as well. I'm currently in Denver. I had just spent the last few days at their annual conference. Very exciting to see some of the progress in research. Very inspiring to connect with other parents, and overall, just a great organization. [00:35:23] Speaker A: That's wonderful. And so if you're listening to this and there isn't an organization or there's not a robust organization for a condition that afflicts someone in your family that you're taking care of, do check out the Prader Willie. Is it the Prader Willie foundation? What's the correct name. [00:35:38] Speaker B: The foundation for Research. [00:35:40] Speaker A: Thank you. Because it's extraordinary what parents in many cases of children with these conditions have accomplished. And the best in class organizations are really impressive in some cases, getting stuff all the way into the clinic, and in other cases, as you said, doing all the fundamental work that prepares the ground. So that makes a ton of sense. Okay, will, if we think about what comes next in your journey, where do you think things go for here, personally and professionally? [00:36:06] Speaker B: Well, personally and professionally, I'm most likely to return to the United States within the next couple years. I currently live in Singapore. I've got a wonderful job, a great lifestyle. The problem with life in Singapore is that it's lacking two things that are really fundamental as a parent for effectively managing my son's condition in the long term. The first is extremely limited reimbursement in both the public and private sector for rare genetic disease. And so despite actually actively looking for insurance policies while my wife was pregnant and beforehand to cover situations like what I'm in right now, I couldn't find any in Singapore. And my employer plan doesn't cover rare genetic disease and the public health system doesn't cover. So the costs are quite high and they will only continue to grow as our son gets older. So for that reason, we probably have to skedaddle from Singapore and then also in the US. The US really is still the epicenter globally of rare disease advocacy and drug development. And unfortunately, compared to Asia, in Asia, there's not as much action as there is here. And I want to put myself as close to that epicenter of advocacy and drug development as I can because I want to help steer it as much as I can, and I want to be there. Once we do figure out treatments and interventions to help people like my son, I want to be the first to get them. And so the US seems to be the best place to do that. And for that reason, I'm already actively working on professionally my next steps. I definitely want to stay in the rare disease space, and I am hopefully going to find something that allows me to do that full time. But as of now, I'm not necessarily rushing back to the US. Most likely it's towards the end of next year that I'll be coming. I still have some projects to finish up with my current employer, things that I'm very passionate about, things related to rare disease diagnostics and newborn screening, things related to the broader rare disease portfolio. And then, of course, all the things just in my day job that I've committed to doing that I have to do for the sake of my colleagues. We're all wonderful people. So most likely personally and professionally, I will be beating a path back to the US by the end of next year. [00:38:17] Speaker A: Well, I think the US will be happy to welcome you back, Will. I'm not aware of rare disease advocacy organizations outside of the US that are on the scale of the kinds of sophisticated organizations that exist here. If anyone's listening to this, and no, no, you don't have the plot right. There are organizations in Europe or Asia or elsewhere that we should know about. We would certainly be interested in hearing about that. The wonderful thing here is a highly collaborative community within conditions and across conditions. In many cases where people are sharing ideas and techniques and in some cases, technology. We wish you the very best with that. Any place that people should go to follow you or see the stuff that you're putting out into the world? [00:38:57] Speaker B: Sure. So, Chris, I think you and I discovered each other because of some of my content. And as part of my rare disease caregiver and advocacy journey, I've been creating a lot of content, both about my personal story as well as about broader themes and trends in rare disease diagnostics that I think are interesting. So for my personal story, I do have a medium account. You can search for me. Will green at medium I'm on Twitter, where I'm not super active on Twitter, but I always share when I have a new article or a new initiative. My handle on Twitter is at Tiger Miner. Tiger like the animal miner, like M-I-N-E-R like a gold miner. And there's a whole story behind that name, which I won't get into. And also on LinkedIn, too. Find me, Will Green. And I work for Roche Diagnostics, Asia Pacific. And so if you type those words in, you'll probably find me. And LinkedIn is also an area where I'm fairly active, where I often post about things, and then I try and write for lots of different media as well. So you might also, if you read about rare disease topics, about policy trends in the space, you might see my name pop up on other platforms and forums as well. But please do reach out and connect. I love speaking with other caregivers, advocates, people working in industry, people working in the ngo community, anybody who is working to make life better for people with rare genetic diseases, I want to get to know. I want to work with you. I want to help you. [00:40:20] Speaker A: Well, who could ask for more than that? Wilt Green, thanks for joining us today on few and far between. It's been a pleasure. Thank you for listening to the latest episode of few and far between. Our podcast is now available on Apple Podcasts and other major streaming services. Please take a moment and leave us a user review and rating today. It really helps people discover the podcast and we read all the comments. Those comments help us to make few and far between better and better. Also, be sure to subscribe to few and far between so that you don't miss a single episode. Got an idea for a future episode? Email us at [email protected] or contact us on our [email protected] I'm your host, Chris O'Brien. See you next time. Channel.

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