AUDIO Epi 9: STOP ignoring patients' lived experiences for innovation

AUDIO Epi 9. This IPZO facto, Innovation: No Way But Forward Podcast Episode 9 (Patient Advocates: The Lived Experience) features Sabina Kineen, a dedicated *patient advocate* for the rare disease community, sharing a compelling *chronic illness story**. Her family's journey began with her father's unexpected diagnosis of **Fabry's disease**, a **genetic disease* that highlighted significant *healthcare challenges**. Sabina's work within pharma and biotech ecosystems aims to amplify patient voices in drug development and promote greater patient **lived experience* data for optimal clinical trials and therapies.

Sabina provides a poignant account of her family's journey with *Fabry's disease**, shedding light on the struggles faced by the **rare disease community**. She emphasizes the critical role of a **patient advocate* in amplifying patient voices within drug development, especially for conditions like this *genetic disease* where *clinical trials* are scarce. This narrative underscores the significant *healthcare challenges* and the urgent need for greater understanding and support for rare disorders.

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Sabine Kineen, Rare Disease Patient, Caregiver, and Advocate   / sabina-kineen 

InnoPathwayZ (IPZ)   / innopathwayz-llc 
Zina Manji, Founder & Principal, Regulatory Strategist, InnoPathwayZ   / zina-manji  

Because with healthcare Innovation, there is No Way But Forward!

Transcript

My name is Sabina. I represent the rare disease community. I'm a patient caregiver, amplifying the patient voice in drug development. My father was to do a routine employment physical. Youth in that doctor and that curiosity set us on this trajectory determined that my father has Fabry disease. 


Rare disease is genetic. There were no clinical trials. So many other challenges that we share within the rare disease community. It's a rare disease, but in your circle, it is not rare. My sister and I, speaking at some FDA hearings, and pretty much begged for help, were able to get my father on expanded access. 


Women, there's a lot of medical gaslighting. And it's so easy for women to be forgotten. Fabry is multi-systemic. Initial diagnosis is so difficult. The biology wasn't really understood. It wasn't understood. 


That's the thing. They were accepting. They had 23 patients. There were a handful. They were accepting women. The next 12 years, I spent traveling from here to another state to make sure that pharma and biotech are seeing the burdens that patients face. 


You know, I'm a firm believer in having that patient voice. They're just looking at it on paper without really discussing that the true lived experience of the patient and caregiver really is going to lend itself to a much more successful trial experience. 


Data drives decisions. Fabry disease is one of only 5% of rare diseases that have approved treatment. 95% of these diseases out there. And I said 300 million people worldwide. Our impact has manifested itself completely different in all four of us. 


Every body is different. Right. Everybody, every body. I could be one of maybe five patients in the entire conference because everyone has a voice. Everyone has a voice. The lack of patients. Surprising and upsetting. 


No idea because they're so focused in on the sales pitch to actually, I can get so frustrated sometimes because with a vendor that has no interest in speaking to a patient, their end user, if you want to say, really. 


And you know, it's funny how you said the patient-centric and patient-centricity and patient-first. You know, those words that we've been hearing for, yeah, over 10, over five, 10 years and think that patient engagement is just fluff and just checking the box off. 


Well, I think that a lot of really good things are happening out there. I just think that there needs to be more of it for biotech companies having the true focus on patient advocacy infused throughout their daily activities. 


I think that's incredibly important. In the end, you're talking to people, how we can all make each other's lives better. Well, hello. Welcome to the next episode of Ipso Facto Podcast. I'm your host, Zina Manji, and I am thrilled to have with me today Sabina Kanin. 


Sabina, I met earlier this year, and she is a patient advocate for rare disease. And she has, in her experience, has also worked with pharma and providing insights. And it's so important to have the patient voice in advocacy, but also in development. 


And so I'm so happy to meet Sabina with this podcast. I think this is a really important episode to bring some messages forward to you, the audience, and what you can do with, if you're going through some struggles and what you can do and how you can help in sharing your information as well. 


And I hope, I think you'll learn a lot from Sabina's story. So Sabina, thank you so much for joining me today. And if you could introduce yourself to the audience and also what inspires you most in doing what you do. 


Thanks again for having me, Zina. And it was a pleasure meeting you. And like you said, I just really have the pleasure of working with pharmaceutical companies and other people within life sciences and other patients. 


But really, you know, what inspires me is just, again, helping others who are along this, who are taking this journey and really, again, as you said, amplifying the patient voice. I think it's so incredibly important for so many different reasons to hear the patient perspective, especially within drug development, you know, starting from the beginning, but it's just an honor. 


You ask me what inspires me, you know, listening to the cure and thinking everything was grand. My father was in his 40s. I am the youngest of six. We're an immigrant family. And again, my father was in his 40s and he went to his family physician to do a routine employment physical. 


And with that employment physical, they did a urinalysis and happened to see that he was spilling protein in his urine and a pretty significant amount, which indicates a decline in kidney function. Well, my father, otherwise seemingly healthy, this young doctor directly out of his, you know, just finished his residency, was curious why my father was having issues with his kidneys. 


And I think that youth and that doctor and that curiosity really is what saved, kind of set us on this trajectory because he wanted to know what was happening and kept pushing and pushing, asking my father all kinds of questions. 


And, you know, we never would have believed it, but he narrowed it down after a battery of tests and sending out lab work and going up to teaching hospitals in bigger cities, determined that my father has Fabric disease. 


So that's F-A-B-R-Y Fabric disease, and it does fall under the rare disease distinction here in the U.S. It is multi-systemic, but one of the classic symptoms is kidney failure. So when my father was diagnosed, it is genetic. 


It kind of opened the doors and opened our eyes. In fact, when a person is diagnosed with Fibro disease and they're the first in the family, it's an average of five other family members that can be diagnosed with that. 


So it explained right away why he had two older brothers that had severe kidney dysfunction and his mother had an early stroke. And there was a whole other host of things that kind of pieces fell together. 


But it's interesting because my father, again, I said otherwise healthy, like so many other undiagnosed rare disease patients, these symptoms become your norm. Like you don't realize that you have pains every day or GI issues or headaches. 


And I think that's what makes it challenging for so many people in the rare disease world because you've got like a, I say this, like imagine trying to put together a puzzle and you don't have that picture on the front of the box and you have all these different pieces. 


And I think that's what it kind of the doctor did. He took those pieces without that picture and he put it together and really went forth and diagnosing not only my father, but ended up diagnosing my four sisters and I, because it is carried on the X chromosome. 


And I can explain that as well. But that in itself lent it to an interesting journey for the next 40 years, especially with women. But yeah, it's the again, going back to the original question, what inspires me, it's my family. 


You know, for the next 40 years, you know, I've been fortunate enough to use my voice. And it wasn't always easy. There was just so many ups and downs in this journey. But, you know, 40 years ago, nobody heard of Fabré. 


There were no clinical trials. So talking to a doctor, talking to anyone in drug development was just nearly impossible. So we've come a long way, come a very long way. Wow, Sabina, that's quite a story. 


And I guess for the audience who may not be aware of what rare disease means, could you go into how something is defined as a rare disease? Yeah, you know, it's kind of, I always laugh is that the word rare is a little misleading. 


It really truly is. It's rare individually, but collectively, the number of people who suffer from a rare disease, there's over 300 million worldwide. So that's not a small number. It's just right now, I believe the number is about 10,000 or so distinguished or named diseases that fall under the rare disease category. 


Here in the U.S., it's anything fewer than 200,000 patients in the U.S. I believe in the European Union, they define it less than five within 10,000 people. So with Fabre disease, I'm not sure that the statistic always changes with new diagnosis and new ways to find people who have it, but it used to be one in 40,000. 


So I used to explain to people, like, okay, picture a large stadium with 40,000 people in it and only one person has Fabroid disease. So that was describing it. But again, you know, it sounds like there's so few of us, but really together, there's just yeah, and it's a very powerful thing, too. 


It's a strong community, and I'm very honored to represent it. And it's wonderful, Sabina, that you're taking your situation and you're contributing to advancement. You're contributing to just knowledge. 


And also, I imagine you're also, you're connecting, as you said, with other patients with the same condition and the support network and where people can go, which doctors know about it, which, like you mentioned, teaching institutions and all of these things where, you know, they can go a little deeper into research, right, typically. 


And so let's talk about that a little bit, your experience. I guess it started with your father, and that's when you became aware of it. And because of this physician, you had a lot of curiosity for, for whatever reason, it didn't come up before. 


You know, something that is rare, you have to, you do, in a physician level, I guess you do have to really hunt for what could be causing these conditions. And when it started to, I guess in my words, start to flare with your father, where we're concerned enough to come to the physician, right, and say, look, can we see what's happening? 


And the physician, too, understand that there's something a little bit different here. Let me find out more. That was your father's experience. Now, your experience. I guess you were then diagnosed as a young child, but this previous. 


Yeah, I was a teenager and it was subsequent to my father's diagnosis. And so with many genetic diseases and within the rare community, a lot of times, again, once one person in the family is diagnosed, then it kind of opens the door and you're able to go through the family line and look for symptoms and ask questions and then, of course, go through diagnostic process. 


So because Fabry is carried on the X chromosome, we immediately knew that my four sisters and I would have it, but we did have the testing. But interestingly enough, Zena, so I'll kind of cover two points here that I think are important to this question that you said. 


One, you asked me, you know, about like, you know, it did start with my father, my advocacy. And when I say my, I'm also going to say on behalf of my sisters as well, because, and my whole family, we have a very strong family and we have a close family and everyone is very, you know, this impacts so many of us in here. 


So I'm speaking on behalf of my family. But so when you have that diagnosis, you know, your first, especially a rare disease that nobody really heard of, or you don't have any clear understanding of, or it's not in the news, or you're just not, it's not well known. 


So your focus isn't on that family member at first. And you're trying to find either treatment or, you know, just trying to get your bearings. Well, then you have, then you realize, well, maybe you're not alone. 


So then you start looking for other patients. Well, in our case, 40 years ago, that was before the internet, before podcasts. Everything. And there really wasn't a lot out there. So we didn't have anybody else. 


But then we were able to connect with a few other, you know, a few years down the road, we were able to connect with some other patients through a few years. Yeah, oh, yeah, yeah. And then through the Fabry Support and Information Group, which is a group that I'm now involved with, which I hold with such high esteem. 


But you then, again, you connect with other patients within your specific disease state community. But then you realize, you're like, wow, having a rare disease, you know, someone may have, say, another fairly well-known rare disease is cystic fibrosis. 


Well, you have cystic fibrosis. You know, yes, people have heard about it, but it is still considered rare. Well, they face a lot of the same challenges, even though our disease states are completely different, our symptoms and such. 


But we have challenges with insurance, with people understanding what's going on in our body, fighting invisible disease, dealing with your school, work. There's so many other challenges that we share within the community. 


And then you realize that, you know, in my case, I realized that, you know, then it's, it even, my circle has widened because then I realized patients of all, of all sorts, and we're all patients at one point in our life. 


You know, nobody has gone through life without having to go to the doctor or have a family member that has some type of illness. So when, you know, that's where I've kind of branched out and really begun to speak more to just bigger sectors of pharma and life sciences and realizing, especially like within clinical trials, that, you know, it's just, we all, there's so many of the same challenges, but I'm not just only representing rare disease, 


even though that's where my heart is, but just the patient voice in general. Right, right. I guess with rare disease, it puts a focus spotlight, right? It does. And it's kind of supercharged in a higher level of intensity because there's fewer and there's not as much known, right? 


But as you say, the patient experience, whoever the patient is, whatever disease, it's a similar kind of need, right? In terms of care, how you access care, how do you know where to get care from, from whom, you know, and who else has a similar condition. 


So I can see, I mean, like you mentioned, it's a rare disease, but in your circle, it is not rare. It's your family. You're all going through a similar situation, I suppose. And I guess you learn from each other, right? 


You're all talking to doctors and going through your own experiences as well. So each of you, I guess, are sharing, well, this is what I'm doing. This is what I heard this here. And this doctor said this over there. 


And my appointment. It also relates to the rest of you, right? It does. And, you know, again, I'm very, very fortunate that we have our family, even though there's several family members that are involved, or should say, impacted directly with the disease. 


And we're all impacted. Let me just, let me put that all out. And then not only the ones who have the disease itself, but our spouses, our other children, our siblings that don't have it. Everyone is impacted in the family for a variety of reasons. 


But yes, we do have each other. And that's what's, I think I feel very fortunate to have that. But there are so many family, excuse me, Fabry patients and other rare disease patients, and many have never even met another Fabry patient. 


Maybe, you know, have a much smaller family or have no one else that's impacted. Because there are definitely cases of spontaneous mutations where there's only one family member who has been diagnosed. 


So yeah, we're fortunate. And again, you have to seek out the community. And the community is so much broader within the rare disease space because it's not only just the patients, but again, it's the caregivers, it's the family, it's the researchers, it's the people in the biotechs and the pharma companies that are working on finding, you know, or they're working in drug development to better the lives of the rare disease patients. 


It is a wider community, and I think that that's really important to lean into and to, you know, remember you're not alone. That's one thing I'm always trying to get across to patients, especially those that are recently diagnosed, that you are not alone. 


You may feel it, but you're not. Yeah, exactly. And you do hear about those patients who, you know, it is very rare, even in their own circle, right? Especially with rare disease with children as well, right? 


There are those situations and, you know, struggle to find anyone else who has the same disease because they might be in a different country even as well. And you mentioned clinical trials and with rare disease, you know, how did you get connected or what do you know about rare disease and how people get connected with any trials that may be going on? 


Certainly if your healthcare professional is involved and research is more, I guess that's where the search starts and started to connect with, well, who's really researching in this space? But it can be quite challenging, right? 


Well, that's a really tough one because, you know, ideally, having a rare disease, well, first of all, true rare disease specialists are going to be only located in centers of excellence. So then you're talking major capitals, major cities, and you think of the wide scope of our country in the U.S. 


at least and across the world. There's so many patients out there that don't have easy access to these sites of excellence. So even, you know, I'm fortunate. I live in an area where I can drive an hour and a half and I'm, you know, right there with a specialist. 


But driving an hour and a half is also a big deal for some people because they may not have, you know, they may not have transportation or even just taking off work. But going back to starting with how you find out about clinical trials, that's a tough one. 


I will tell you. I mean, clinical trials, you'd think that your physicians would be coming to you and saying, oh, here's, look at all these trials happening. Well, that's not always the case. And it certainly was not the case for me years and years ago. 


Again, turning back the clock here and 40 years ago, there were no trials going on. So I was diagnosed in 1984 and the first trials didn't happen until the 90s. And at that time, you know, we found out about it. 


I mean, it's interesting because I did find an old email. I printed it out. I had sent in like 1992 or something, you know, maybe four emails were super popular. But I was reaching out to someone in Germany, and I can't remember the position. 


But here I was in the U.S. trying to find a trial for my father. Again, our focus was on our dad. And there were, then once trials started happening, you realize that the inclusion and exclusion criteria that is created for these trials are so tight. 


And I understand you too. But it's like, you know, if you really want to include these patients and you need to get patients, because we all know that people, you know, you always hear it that in pharma and biotech when you're trying to get a trial started, oh, patient recruitment is so dumped. 


Well, don't make the exclusion and inclusion criteria so tight that you can't have these people. Like, for instance, my father, his kidney function, he was turned away because his kidney function had declined too much. 


And so it's like telling someone, no, you're too sick. I'm sorry. We can't help you. So that in itself is a kick in the gut. That hurts, right? Because you're in a condition where you feel you need more help. 


You need more. You're more in demand. So it took a number of years and it took a lot of pushing and being very vocal, including my sister and I speaking at some FDA hearings and pretty much begging for help. 


We're able to get my father on, I guess, I guess it would be considered expanded access trial here in the U.S. So he was on a trial for like seven years, but that also included travel, two and a half hour drive each way, every two weeks for infusions, which I was. 


And you were living in the Northeast. I am, yes. Again, very, very fortunate to be in the Northeast where it's a hotbed of research and amazing medical centers. But again, I know how fortunate I am where we're talking, there's so many people across this country and across the world that don't have that access. 


And we had to fight for that. We had to fight to bring that in. And my dad did well for quite a long time. And I look at that trial. He was on that for seven years and then ended up having to come off of it, not because of my father's health or any other reason, but for other reasons within like the company ended up discontinuing the trial here in the United States. 


But, you know, that gave us seven and then eventually my father, I guess, maybe a total of 10 more years of life with my dad. And those 10 years were amazing. He got to see all his grandchildren born enough to make solid memories with him. 


And, you know, that was really special. He lived far beyond the life expectancy that was first thought with his Fabry diagnosis. So again, we were very fortunate. So again, our focus was on all my dad. 


And I guess, Zina, I really haven't touched on the point where women, it was a big challenge for women. I think this is a good challenge. Yeah, it was a very big challenge for women with Fabry disease because, you know, let's just face it, even today, women, there's a lot of medical gaslighting. 


I mean, men and women, but it's so easy for the women to be forgotten. So again, why... Is that because of how the symptoms show up for this? Well, and this is interesting. So 40 years ago, even the top researchers in Fabry disease, wonderful, talented researchers, but they truly thought that it was X-linked recessive and that women would have symptoms. 


In fact, with that, our first diagnosis, when we were sitting around the table at the genetic counselor and the physician, they straight out told my sisters and I, don't worry, you will never have any symptoms. 


You will, you know, pass it along, but you will never suffer any symptoms. Because of what they believe the genetic makeup. They just didn't understand. And that's the thing you're constantly learning more about with rare diseases. 


They also had said some other things, which you would never say these days, where they pretty much said that we should not have children. And if we got pregnant, we could terminate the pregnancy, which you'll never hear out of a genetic counselor's mouth now. 


But so for many, many, many years in the Fabry community, the females were just called carriers. And in fact, if you Google it now, there's still the worst use of the word carrier. And it's incredibly frustrating because women are not. 


I guess that's been perpetuated. It has been perpetuated. So thankfully, you know, reality has caught up, research has caught up with reality and women are recognized as having Fabry. Now, some women are much more, like, less symptomatic than others. 


Some women have more symptoms than some males. I know it does, without getting into the biology of it, but the ex-lionization and the randomization of the activation of the gene in each cell is a little bit different with women. 


But, you know, right now, and it's interesting, I'm without, okay, so with all rare diseases and with all diseases and stuff, we have a gene variant. And of course, that gene variant is carried down through our family line. 


So we have the same gene variant as my father. He passed it down to my sisters and I. You would think that you'd be able to look at that specific gene variant and determine how Fabry would impact the body. 


Because one thing I didn't talk about is Fabry is multi-systemic. So I did mention the kidney decline, but it also causes GI issues. It causes heat and cold intolerance, extreme pain, fatigue, depression, cerebrovascular events. 


Like I personally have had several TIAs. Oh my gosh. But, you know, there's a whole host of other things. And they're all happening at different times. So if someone doesn't know about this condition, it could be misdiagnosed. 


Oh, it's constantly misdiagnosed. I mean, if you think about it, you hear about all those symptoms, they could be attributed to initial diagnosis is so difficult. But again, so let's see, going back to my teens and through my 20s, and I'm just going to speak for myself, even though, again, my sisters and so many other women within the Fabry community also experienced this. 


But my personal experience, I had migraine, I had pain, I had embarrassing GI issues all through school. I had episodes of syncope. I had all these different things. I even had my first TIA in my early 30s and it like nobody pieced it together. 


I would go, I mean, if you think about it, I had an official diagnosis. But even though, yeah, right. I had an official diagnosis of Fabry disease, but I would go to the doctor and they're like, oh, it can't be your Fabry because women don't aren't impacted or they're not affected by it. 


So it was just that awareness wasn't there. It wasn't there. So it took many years. The biology wasn't really understood. Yeah, it wasn't understood. That's the thing. So eventually, like I said, researchers kind of and clinicians finally came to the conclusion that women did in fact have the same symptoms and can be impacted detrimentally. 


And so we, going back to the clinical trials, we had my father kind of settled. And at this point in my life, I'm married. I do have amazing children who I'm just grateful I have. Didn't listen to that genetic counselor. 


But I decided it was time to kind of take a step and help myself. So I started researching to try to find a place to file. And I went to my favorite website in the world. And this is before you had children? 


This is after I had children. Okay. So I was, I had two young children. We're a blended family, so I had three children, two biological. But I decided to find a trial for myself, and I went to clinicaltrials.gov. 


Not the most patient-friendly trial, especially, or excuse me, site, especially 20 years ago, I guess. And I found one. I found one. It was this small biotech never heard of. And it ended up being, you know, they were accepted. 


They had 23 patients starting as a phase two. And I said 23 patients, I think, worldwide. Wow. And I think, I can't remember how many here in the U.S., but there were a handful that were accepting women. 


And I was super excited. So for the next 12 years, I spent traveling from here to another state and with flying. And I was part of a trial from phase two all the way through fruition and FDA approval, 12 years ago. 


But Xena, let me tell you, it was so worth it, but there was so much sacrifice, so much sacrifice. And this is what happens with rare disease. You know, if you're able to get on. I guess you're not really getting much of a choice, right? 


No, and that's the thing is. The rest of your life has to work around it. Yeah. So I think that a lot of my experience with clinical trials has shaped my advocacy because I've seen the possibilities. 


Now my voice, I lend it to like in the drug development world and say, you know, the sacrifices that I had to make back then without the resources that we have now and the capabilities, meaning I had to travel, I would fly to this other state to get a urinalysis of blood draw and a history in an EKG. 


And I would lose two days of time, two days of work, taking care of my family. Well, think about this. If we're trying to get a diverse patient population, how many patients can do that? I quit my full-time job and was like, was depending on my amazing family and friends and supportive husband. 


Not everyone has that. And I was able to do that. So now, like I said, I try to find ways and to make sure that pharma and biotech are seeing the burdens that patients face when they're either trying to get on a trial or trying to stay on a trial. 


And what, you know, even trials that are happening in their own hometown, you know, there's so many different sacrifices. So, you know, I'm a firm believer in having that patient voice as part of that and really helping the whole process run a lot smoother and be more effective. 


So it's a win-win situation for both all stakeholders. Yeah. I guess the, yeah, and that benefit comes about when there's access, right? And with, you know, so-called remote child, decentralized trials, all these different tools that are available, I think there's a lot of opportunity to do things better to get closer to where the patients are and still be able to run a robust trial. 


Oh, yes. Oh, yes. Things have changed dramatically since I first started or even back, you know, when I was first diagnosed. So yeah, just to have the simplest thing. And I think like a big thing is just having, being able to, well, one, number one, I always say, is have a patient and caregiver part of the protocol writing and development. 


Because I can't tell you how many times you know, we all know how many times do companies put literally millions of dollars and they invest all this money into putting together a protocol, selecting sites, you know, recruiting investigators and all of these things. 


And then, but never speak to a patient until they're right at the end. And then you have to realize that what they're asking of the patient community is just not feasible. And it's not, maybe not, it's not filling a need. 


It's not filling like they're assuming that they know what the patients need or what they want, like what their endpoint is, because they're just kind of looking at it on paper without really discussing the true lived experience of the patient and caregiver. 


So if you do infuse that perspective in from the beginning, you're going to save so much time, so much money, and it really is going to lend itself to a much more successful trial experience all around and hopefully better the lives of the patients. 


Yeah, absolutely. And so let's double down on that a little bit. So you talked about the patient lived experience. You know, we also talk about the voice of the patient into clinical trials, into development. 


And what you described is exactly that, because I think where it helps companies to talk to patients in the design, in the clinical design aspect is really, as you described, is we need to understand how the disease is experienced, right? 


How is the patient experiencing disease? So therefore, you can also see how the patient is experiencing the treatment or the trial, right? And if you think about it, you know, we designed, ultimately, there would be design these pivotal trials and pivotal trials for the purpose of registration, right? 


And if those pivotal trials are designed in a certain way, that becomes a basis of how the drug is dosed, how it's administered, who it's administered to, timings, condition of use, etc. And if that trial is not optimized to bring in that patient experience of using the product or the caregivers, it can create some barriers to actually use that product more optimally, whereby you get more of that development. 


So really, having that patient experience in from the beginning and designing a trial, you know, you're actually, like you said, it's not designing it on paper and it's not an academic exercise, right? 


It's actually how is the patient going to use this, understand what they're going through, not just biologically, not just clinical numbers, but what are they actually experiencing such that they will even stay in the trial and the trial itself doesn't create a barrier. 


Oh, yeah, no, and that's exactly the things that I try to discuss with organizations is, yeah, if you have to find out what their real experience is, you know, and again, whether or not, you know, if, for instance, a lot of Fabry patients are infusions and take infusions every two weeks, and which, you know, is a very difficult thing. 


But, you know, even just working around that, well, what does it mean? Is it an infusion that that is going to take six hours? Is it an infusion that's going to take one hour somewhere they can do at home? 


Do they need to go into a center? So again, that's even like, you know, past the trial that's post-market. But those are, those are incredibly important things. You know, what if you have, you know, you need some type of flexibility? 


There's so many. Again, we talk about accessibility to not only the trial, but to just care in general, even post-market. But listening to the patient and caregivers. And I always say caregivers because so many of these conditions require a caregiver. 


And I'm not even just talking about pediatric. I mean, that's a whole other thing where there's, you know, again, so many rare diseases impact pediatric, pediatric population. But also, you know, adult caregivers and support, like my husband, you know, I don't necessarily rely on him for daily activities, but he's also my caregiver. 


What if I have to go to the hospital for the emergency room? So it all kind of like he needs all of these perspectives in play here to really make it a valuable situation or successful situation too. 


So yeah. And they just, that's where I think the patient voice and the caregiver voice really needs to be heard and amplified. Yeah. And if you really think about that, that patient experience in the child, right? 


If they're sitting for a six-hour infusion, I mean, can they be mobile, right? Is there a way that they can be mobile? Can it be done remotely in any way, right? Or at home through a caregiver, perhaps? 


Or, you know, how, and you're bringing to mind that when patients are accessing these trials, accessibility of the trial, well, if they have to fly to a center to get checks and for, you know, progression tests and things like this in between for assessment. 


If they have to fly and do that, that means if they're working, they have to take time off of work. You know, what's coming to mind is, you know, oftentimes you're a professional patient. Yeah. I mean, you can't work because there are things that you need to do or maybe, you know, hopefully you would hope that these days with remote working possibilities and that corporations would be more understanding and allow people to also work as well. 


It's really not about the work or the capability, but how do you provide that work? It can be provided in several different ways in many companies. You don't actually have to be in the office, or you can flip your timing so that you can still take care of yourself. 


And at the same time, still work. You don't have to quit. You have to look for flexibility all around. And it's always each individual person, each individual participant in the trial, for instance, they're in a unique situation. 


Well, again, I was able to fly, but and to take time, or as you said, maybe work remotely. But if I'm working at the local grocery store or if I'm working, you know, there is no such thing. Work remotely. 


And if you really want to have a diverse population, you want to make sure that you are covering all the bases and you are removing these burdens that are so easily that they're just overlooked. And that's where, you know, when it comes down to writing the protocol and, you know, having that voice and really looking at it in just a wide angle and trying to imagine all types of patients and what they're facing, 


you know, how will they be able to achieve, you know, how will they be able to successfully participate in this trial? And that's where, you know, there's so many different tools even to find that. There's satisfaction surveys out there that help you find out, you know, what the site, it all goes down to what site. 


You take a site that is completely inaccessible to a large community. You know, that's a big thing. You know, now I'm a big proponent of having sites that are local to especially underserved communities and underrepresented communities, where they don't necessarily, they can just take a, they could just take a one quick bus ride versus change buses, get on a train, you know, go this and then whatever to get to the site. 


And maybe they're only taking an hour or two off. Maybe they have child care issues. They're single family parents. So really, if you're going to reach a diverse population, you need to make sure you are understanding all of the types of burdens. 


Because it's very easy to fall into what, you know, what would be a burden to me, what would be a burden to you. But you really have to be able to think about a wider spread of people because we all live unique lives and we have unique challenges. 


Yeah, and you know, with this day and age, as we say, and advancements are happening every year, every six months, really, there's new things coming. It should be a continuous process to look for better ways, but it all starts with understanding the patient. 


Exactly. Yeah, it's understanding that and to plan ahead to get to say this. You have the voice in there and you're planning and then you're budgeting for these things. You're budgeting for reimbursement for transportation. 


You're budgeting for child care or that type of thing. And you're understanding that because if you truly want your trial to be successful, you're going to need to put the dollars where they need to be and not let them be wasted with a failed trial because you didn't listen to the patient in the beginning. 


Yeah, yeah, exactly. You're illuminating a lot of things here, Sabina. I think, you know, we always hear about, you know, a voice of the patient and this, especially in recent years, I would say, much more stressed. 


But when you really put yourself in the patient's shoes, you're actually feeling the voice of the patient is another thing versus just kind of saying it academically. Oh, I'm sorry. No, I was just going to say that there, one thing that I'm really passionate to about is trying to get hard data. 


So everything that I'm sitting here saying, I'm, you know, there's so many, there's organizations and there's researchers out there that are very passionate about patient engagement. And they're working hard to find hard data to take back to people in a complete to show that all of these things that I'm talking about really will impact your ROI. 


I mean, that's what it comes down to. I heard in a recent conference, you know, data drives decisions. And so many people think that patient engagement is still fluff. It's not. It is not fluff. And that it's more preferences versus necessity. 


And I think that that's, I mean, that's where I'm trying to get is like, again, that hard data and the reports and the abstracts written and the white papers written that show that everything that I'm sitting here talking about is proven fact and it's needed. 


It's really needed. Now, especially in the case of rare disease, because you need more patients, right? You mentioned this trial you were in, I think it was 23. So that's a small number, right? When you look at more common diseases, it's a very small number. 


So even more so to make it more accessible in a rare condition. Because like you said, in your situation, the biology was still being researched. I guess there's still a lot of learnings happening as well still. 


But if there's no research done, if you can't access patients, then nothing will progress. Correct. And so it's so critical to use the tools and advancing tools to figure out how we can make it easier to bring patients in and really see how much of an improvement is there. 


You know, it's not just an improvement in numbers, but it's an improvement in life and life experience. You know, how you're experiencing that treatment in a better way. And I think often that that's an innovation in itself, right? 


You have drug A and drug B, but if, you know, they both might work well clinically, but drug B might be more suitable for patients' lives and how it's administered and how many tests may have to be done in between or even how often it may be provided. 


I mean, we look at HIV drugs and how those have advanced significantly in terms of how often to take them, right? You know, it's interesting you brought that up because when you read about Fabry disease, again, this is another reason I feel so fortunate that, you know, Fabry disease is one of only 5% of rare diseases that have approved treatment. 


You think about that number. 95% of these diseases out there, and I said 300 million people worldwide are impacted. You know, 5% have treatment. Fabre has now have three in the U.S. And, you know, we are just incredibly fortunate to have choices. 


So I've been asked, well, why do you keep pushing for more research and Fabry? And I said, because one, that's a perfect example of HIV. You know, things are always improving. Things become easier for patients, which makes them more compliant. 


And it just improves their lives. Well, maybe, you know, there's now there's gene therapy studies. There's so many different things. But also, you know, just like people seem to think that if they just develop a treatment for a disease, a rare disease, that it's going to work for everyone. 


I mentioned to you, you know, my sisters and I all having the same gene variant. Well, the disease has manifests itself completely different in all four of us. Really? So, and we've all four of us have reacted differently or responded differently to different levels of the different treatments out there. 


So one treatment that seems to work for me has not worked for my one sister. So it's very hard. You know, that's this kind of thing. We're always, always, always pushing for more research, more, you know, data collection and stuff just because we need more choices. 


Can't just assume, yeah, one drug is going to work. It's going to be a cure-all, everything for everybody. And the drugs are based on smaller populations than more common conditions, right? So you are really seeing the differences in post-market when patients are actually using the product. 


With more common diseases, you have a much larger population that ends up using it post-market. But with rare disease, it's still a small amount. So you're still learning about how the therapy is working, actually, even though it's FDA approved. 


Exactly. It is. It's interesting. Yeah. It would be nice to know, just be able to say, oh, this is going to work for you. And, you know, but that's not the case because every body is different. We all know that. 


Yeah. Right. Everybody, everybody. Yeah, exactly. And so, Sabina, you talked about how you were, you looked up clinical trials, right? And you actually found one. Would you, was, was that the beginning of your kind of interaction, I would say, with kind of the development side of? 


Well, I mean, ironically, my husband and I met prior to that. You know, at this point, I had mentioned that, you know, we were, we had our family started. But my husband and I met when we were both working at a clinical research organization, a CRO, a small one. 


But it wasn't, I had nothing to do with the development side. I was in human resources and he was in IT. And you just happened to be. But it was a small, a small CRO. And I definitely picked up on some of the lingo. 


We'll just say that. I was a little bit more comfortable, had a little bit more of that literacy down pat, which again, I was very fortunate. And that made it a lot easier for me to do the research and to kind of understand what was being asked of me. 


But, you know, we joke about that all the time that, you know, how did we end up at a CRO? And here I am, you know, full circle working with industry again. But yeah, so that's kind of, that was, you know, my search, my dive into clinical trials is where I started to make connections within the broader community. 


And yeah, I was just asked to share my story, share my voice. And I've been fortunate enough to be introduced to people like you, Zina, along the way at different conferences and invited into situations like this. 


Or, you know, more important, not saying more importantly, I should say that another way that I, you know, been able to do that is I've been asked to review things like reviewing protocols and reviewing language summaries and marketing materials and different things like that and just kind of consulting in various ways. 


Interesting, speaking on numerous panels, covering a wide variety of topics that are near and dear to my heart, kind of hinted around health equity is incredibly important to me. And I think that that's just kind of, it's just organically grown where, as you can imagine, I like to talk a lot, as you can see. 


So I'm kind of always pushing. I'm pushing my way into conversations at conferences and always introducing myself and, you know, as the patient, because in many, many conferences, I could be one of maybe five patients in the entire conference. 


Yeah, isn't that interesting? And I think that was your palace. So how did you, yeah, so how did you, how did you start to think to go to conferences? And, you know, I just, because of my curious mind, I found my first conference. 


I found, I just went to, I looked up saying, you know, conferences in the area. Again, I'm near the Philadelphia region, so there are conferences all the time. And I reached out to the coordinator, the event coordinator, and asked, do they have any patient scholarships? 


And they didn't at the time, but they said, but, oh, well, you know, that makes sense. And I was invited in. And then shortly thereafter, and I just kind of attended, didn't really say much, just kind of, you know, looked around and got to know a few people. 


But then shortly thereafter, someone who I truly admire in the biotech industry was supposed to be speaking on a panel at an event, and she was unable to. And she suggested bringing me as a patient. And they didn't have any patients that were speaking at the entire conference. 


And then ended up not only bringing me as a panelist, but actually creating a rare disease panel. And we brought someone in from National Organization of Rare Disorders. And then it just, that was probably, I don't know, 10 years ago and maybe a little less. 


And it's just grown organically. And I just do it on the side. It was never my full-time job. It never has been, but it's something that I see as an honor. If I can represent and be the voice of those who don't seem to have, you know, aren't able to share their voice. 


And everyone say don't have a voice because everyone has a voice, but aren't able to share their voice. Then, you know, I find it an honor and I will take advantage of every opportunity that I can. That's amazing, Sabina. 


And okay, so that was 10 years ago, right? And even with other conferences that you've been to, I think you mentioned that there's still a handful or maybe less than a handful of patients in conferences, even today, 10 years later, right? 


And so actually something maybe a bit provocative. Why do you think that is? And also, so let me list a few questions and then we'll take them in time, not necessarily chronologically, but why do you think there's still less than a handful of patients at conferences? 


And I still haven't seen a huge focus on patients. There is, even in patient engagement conferences, I'm not sure that there's always patients there, right? That's one thing, right? The other thing is, the other question I'll ask is what surprised you the most? 


And let's start there and then I'll ask some other questions that came to mind. Did you surprise me the most at my early, the early conferences? Or just overall in your experience of engaging with the development side of life sciences. 


Well, again, the sheer lack of patience is kind of surprising and upsetting, frustrating. I think that one of the things that's interesting that happens a lot. So, you know, picture the normal conference setting where there's, I should say that, you know, there's the big exhibit hall and they have all these providers that are there, either companies or vendors of some sort. 


So, you know, we have our badge on and my name will be there and it'll say patient advocate. And, you know, you walk up to any of the vendors and this happens so often. I was just at one a couple weeks ago and it was a large, large conference. 


I walk up and they immediately do the little look down to see what your name is. And they're trying to see what company I'm with. And it doesn't have a company. And it just says patient advocate. And they said, oh, you know, where are you from? 


And who? And I said, I'm, you know, my name is Sabina. I represent the rare disease community. I'm a patient and caregiver. And they're like, oh, okay. And they don't know what to say. Like, I said, tell me about what you're doing to support drug development. 


What are you like? And they just, they have to. You're asking, you're the one who's engaging. You're asking the question. They're blown away. They have no idea because they're so focused in on the sales pitch and have no idea that they, you know, talking to the end, their end user, if you want to say, really. 


Yes, right. I mean, it happens constantly. And I can tell you, Zena, it's actually, I can get so frustrated sometimes because I have been blown off so many times by, and just like they try to do it politely, but I literally said to one of them very tactfully, but again, this is my voice, I said, you do understand that, you know, more and more patients are being invited into the C-suite to discuss their thoughts, 


their reasoning. And it really, and I go on my scale about how important it is to have the patient voice. I said, I have, I consult with companies, the ones that come to me and say, what do you think? 


You know, but if I'm here with a vendor that has no interest in speaking to a patient, they're not, you know, I'm not going to recommend them to a organization that's trying to improve their, you know, what their focus on patients. 


And that's the hard part. It still surprises me. And even going back to the events themselves, I can't tell you how many times I've been invited to speak on a panel and I feel like I'm just like a still like a check mark, like tick the box, had a patient. 


Yeah. But I'm not really able to, I'm not given the platform where I can truly share my opinions. So that's still happening. And some are wonderful where it's the absolute opposite and the focus is completely on the patients. 


But, you know, just keep. And as you mentioned, you know, the patient is the end user, right? And who are we doing it for, if not for patients and for improvement of the condition? So it should be front and center. 


And I guess this is an evolution in companies and in departments where I would say it's probably more in the last five years where I hear more about, you know, patient-centric, patient-first. But it's not always practiced in every context. 


Oh, no. Right? No. And even when we're looking at marketing or sales areas or even writing a submission or, you know, beyond the clinical, let's say, beyond the clinical where you're really dealing directly with the patient in their condition is in the clinical trials directly. 


But in every context, if we put the patient in mind where the patient's involved, it can change what decisions you may make. Oh, yeah, yeah, definitely. And, you know, it's funny how you said the patient-centric and patient-centricity and patient-first, you know, those words that we've been hearing for, yeah, over 10, over five, 10 years now. 


But I have definitely come to learn that there are quite a few, for lack of a better word, posers that are out there just saying that because it is the thing to say. But like you said, I think a lot of these departments, especially past like the clinical side, that they're still living in silos and they're not hearing the same thing. 


They truly are. They're operating and living in silos because we all know that they have their own goals and that they need to meet their agenda. We understand that. Patients understand that. And that goes back to what I was saying about trying to gather hard data to try to show these people who are skeptics and not think that patient engagement is just fluff and just kind of checking us on the box, 


checking the box off. But I will say that there is a lot of hope out there because I have met, personally met some companies. And it's kind of funny because it tends to start with smaller biotech companies. 


Yeah, I was going to ask you that. Yes, especially those in the rare disease because the companies that start in the rare disease space are generally have some personal skin in the game, if you want to call it that. 


And they see the importance of patient engagement. Ideally, you know, the ideal world is to have every company have a patient advocacy department, a large one, not five people in a department of a company with 50,000 employees. 


I think, you know, that that's possible. And they might not even be full-time in that role, right? There might be, the roles might be split. Exactly. So I know of companies that have done, I mean, there's so many ways, practical ways that companies can infuse the patient voice in the daily activities. 


Like, again, having a strong department, patient advocacy department, where you have members of that department that sit in meetings, true decision-making meetings within other departments. Anything, any decision, major decision meeting that is happening that's going to impact the patient. 


So go to a marketing, have them go to a marketing meeting, be the patient voice, go to, you know, clinoxes. Cross care, exactly, to make sure that the patient voice is truly infused in all that they do. 


Making sure that new hires understand what it means like to be a patient, bringing patients in, not just marching a patient in every once in a while to share their journey. And again, mark that off, but really having people, like some of my biggest joys have been being able to go to a company and talking to the accountants, the people in the custodial thing, all of those people, especially the smaller companies that are working so hard to meet a goal and that have never met a patient. 


Or those, I remember speaking, I had an opportunity, there's a couple times I spoke with young students that were working in a lab for two years on working with mice models and stuff for Fabry and have never met a Fabry patient. 


And I sat with them and they were just talking questions, but they're putting their heart and soul into this. So it kind of brings the patient voice there and put a face to their work. And it adds value to their work. 


Makes it more real versus. It's like speaking to a graduating class of genetic counselors. I talk to them about what you're going to deal with when a family is diagnosed. But anyway, but that's kind of, I'm kind of going off tangent here, but these companies that are, you can tell the difference that of the ones that are just saying they're patient-centric, but those that are truly put the patient at the heart of everything that they do. 


Yeah. And Sabina, so given all that, you've probably somewhat answered this question already, but let's put a focus on that. Why do you think at these conferences, there's not an not larger number of patients? 


Well, one, I don't think we're invited. I mean, like, I, and I don't think some, they just, the event coordinators just don't think to reach out. And maybe they don't know where to reach out, but there's so many amazing patient advocacy groups that can tell you, you know, this community member is comfortable speaking or they have a unique story. 


They have, you know, this or asking, you know, people within industry who they've connected with, what patients they've connected with. I think that that's, you know, that's important. They just need to reach out. 


I just don't think that they just think that that's either a possibility or just don't, they still don't see the importance of it. So you just mentioned about inpatient advocacy groups saying, well, we have a speaker who's comfortable with speaking on such and such and such areas and topics. 


So how did you become a patient advocate? Sounds like it was kind of organic in the way you got into it, right? And you had that curiosity and such, so you kind of went and sought it out. How do you counsel other patients to be patient advocates? 


Do you think that there are barriers from patients' point of view where they could be advocates, but maybe haven't thought about it? Yeah, I mean, I think that, you know, you have different types of personalities that one, you know, they're definitely the introverts. 


It is very personal, right? It is very personal. You know, how do you feel about sharing your story? But I think that the people, okay, there's a lot of people out there that want to share their story and they may not know how to. 


And there are resources out there that help patients truly build their storytelling techniques and their skills. I think that I would love to be like mentor other patients to be able to do that. And I've spoken to many, but there's, I just think that just them giving the opportunity and then understanding this is a big thing too. 


So many event coordinators will still invite patients to come speak on panels and not give them either a discount, like for like invite them, either pay them as they would in any other expert speaker, or they treat them as like a pharma rep or a biotech rep, not understanding that they have anyone paying their way. 


So I was invited to, I'll give an example. Just recently, I was invited to speak at a show at a conference, be a panelist, and they told me that they'll give me, you know, speaking, I'll get a discounted rate of $1,200. 


Well, I, in no way, am I spending $1,200 driving somewhere, speaking for 15 minutes, and then coming back, and I'm paying them or just, you know, you're asking me. You're also traveling. But I also am not working for a company that's going to pay for that. 


That's right. I'm not representing, you know, any of the, you know, big pharma or biotech company. I am a patient advocate. You want a real patient or real lived experience. It's not necessarily going to be someone that works for, you know, a company that's going to be able to pay for it. 


So be prepared for that and offer them free, you know, registration. Come, you're invited to stay all three days of the registration. We'll give you a stipend and we'll pay for your hotel. And, you know, fortunately, you know, I'm blessed with a lot of event coordinators who will do that now. 


But so many out there still don't see people as the expert or they won't pay them like they would a physician that's speaking. But there's, and there, there are truly, there are scales out there. There are resources that help determine like the standard payment scales or what's appropriate. 


And I can't think of the word which one it's out there. But, you know, there are compensation like schedules that you can look at, what's appropriate to pay for a speaker. But I think that's something that I think event coordinators really need to take into consideration. 


Yeah, it's really going deep on what's the purpose of the patient being there, right? And then you take that decision because that's the value add for the conference as well and for the discussion. And it's not an organization representing their data or talking about their research. 


It's actually someone who's going to use the product potentially or speak on behalf of others who would be. Exactly. So given all of your experience collectively now, and you may have, you know, you kind of hit on this as well, but let's go a little deeper if that's possible. 


What would you like to happen? I mean, what have you thought about and said, if only this could happen? It's another way of saying what's a gap, but in a more positive way in terms of the opportunity for life sciences, for biotech with patient advocacy. 


What do you think they haven't thought of yet that they could, that might be based on a gap or an unmet need, but also an opportunity how the experience of patients could advance based on current knowledge of patients, how it could advance what's being done today. 


Yeah, well, I think that a lot of really good things are happening out there. I just think that there needs to be more of it. I think what I talked about about the smaller biotech companies having the true focus on patient advocacy throughout and fused throughout their daily activities. 


I think that's incredibly important. I think the communication, the open communication between the patient community and the company needs to be always flowing. It needs to be going back and forth. I think that patients should be able to reach out with questions and concerns when whether it's in the drug development process or other aspects or post-market. 


I think there needs to be resources well connected and again, easily accessible. One other thing I think when you talk about a gap, again, I kind of leaned into this a little bit earlier, is reaching a much more diverse community of patients. 


I think there's a huge gap in the underserved populations. I think populations, you know, you think of just, you know, race, but there's also there's age, race, disability, age. I think the elderly population is overlooked. 


I think the pediatric population is overlooked a lot. I think the indigenous people population is overlooked tremendously. So reaching out to them and providing the resources that make it easily accessible for them, you know, those are, there's so many things that can be starting, but it's going in the right direction. 


And I always, always, always try to remain hopeful. I mean, it's very easy to be negative and think that it's not, you know, you know, things are always bad and people don't care and they don't want to hear the patient voice. 


But then I look back at the 40 years, these past 40 years, and how my life has changed drastically and the people I've met along the way and the advances in science and the advances in just community building, you know, that have come together. 


So I truly, I had a lot of hope moving forward, but there's still a lot of work to do. Yeah, and I guess, you know, this is a great point, Sabina. And you just have a glow around you as well and can see a lot of positivity. 


And I'm sure it's difficult, but you seem to have a lot of positivity within you and wanting to advance also a lot of curiosity and how things can be done better and lending your voice as well and being involved and having the curiosity on, well, how do things work in the corporation? 


Let's get real, so to speak. Well, how do you get involved with the patient? I love how you describe the experience of going and talking to the vendors and actually asking them the questions. That's, you know, I think you may not get the best answer at that time, but, you know, it could be the next time you ask somebody, that person I'm sure was probably thought, probably made an impact and thought, 


you know, hmm, I couldn't answer that question, right? I hope so. Yeah. So I think to your point, the continuous engagement is important and to have that two-way communication and to keep being present there as well. 


And as you said, a lot of things have progressed. I think where the opportunity gaps may be is that a lot of things have progressed and they could progress more if not for more knowledge, right? More awareness. 


So maybe that's where also the need for more awareness and first-hand experience and after putting yourself in the patient's shoes and looking through things and getting out of the slide deck, out of the, you know, the protocol paper and really kind of going, well, what's really happening in life situation? 


I think I often feel the more and more technology is advancing and we've got all these digital tools and they're becoming more and more and AI and all of this that we need to make sure we don't forget the humanity, right? 


That human connection is so important. Looking in the eye and the touch and feel as well. All of these things make a difference. And that's what you have to really think about when you are designing trials as well. 


What is the patient touching and feeling? How are they, you know, interacting? And what's happening with their day? No, I firmly agree. It is very easy to just forget the person. But really, that's what it's all about. 


In the end, you're talking people. You know, it's talking about the heart of what's happening in their experience and how we can all make each other's lives better and easier. Yeah, absolutely. So if, Sabina, if people want to get in touch with you and bring you on into their conversations and whatever format or context that may be, you know, you're very easy to talk to and you have extreme, you have a lot of knowledge and a lot of experiences. 


And you can speak on so many different levels. So if people want to contact you, what's the best way to do that? And what's the best way that you like to get involved? Oh, probably just find me on LinkedIn. 


I'm always writing something or sharing some article or commenting on someone's post on LinkedIn. You just find me under my name. But yeah, I like to always see what's happening out there. So anyone could always reach out to me. 


Fantastic. So we'll have Sabina's information in the show notes. So do reach out. Anything you might be curious about. I think she can engage with you or perhaps recommend who you could engage with, I'm sure. 


Sabina, thank you so much for joining me on this platform, on this podcast. I think after meeting you in the spring and we shared a cab and it was so enlightening talking to you, Sabina. I learned so much and I thought, you know, if this, if anything is ibso facto, it is this, right? 


It's about the voice of the patient and remember who we're doing this for. So I really appreciate you coming on today, Savina. Thank you so much. Oh, thank you so much for having me and I wish you the best of luck with this. 


Thank you. Take care. Thank you.