Metabolically Speaking

10. Finding Your Rare Disease Community: The Power of Being Seen with Kevin Alexander

• Ajinomoto Cambrooke, Inc. • Season 1 • Episode 10

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Finding Your Rare Disease Community: The Power of Being Seen
With Kevin Alexander

Kevin Alexander shares how living with a rare metabolic condition can often become deeply focused on the practical side of management from strict diets to clinics and daily routines. What can sometimes get lost in these necessities is the bigger picture of connection and belonging. As a PKU advocate and storyteller, Kevin opens up about his ongoing work to bring greater visibility to the true lived experience of PKU, exploring how identity and community shape everyday life in often unseen ways.

In this episode, we explore Kevin’s personal journey from quietly navigating his condition to recognizing the profound impact of shared experience. He reflects on the pivotal moment when opening up through a single personal story sparked a much wider conversation about finding belonging within the rare disease space. We delve into the importance of vulnerability, the search for connection, and what it really means to finally feel understood by those around you.

We also hear about Kevin’s broader mission to elevate patient voices through his various storytelling platforms. At its heart, this is a conversation about moving beyond the clinical diagnosis, the unifying power of shared narratives, and ensuring that everyone living with a metabolic condition knows they are not alone.

Disclaimer: The opinions expressed here are those of the guests/authors and not necessarily reflective of the views of Ajinomoto Cambrooke Inc. Individual experiences described herein are unique and not necessarily representative of typical outcomes. The content shared today is for educational purposes only.

Show Notes

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SPEAKER_00

For many people living with a rare metabolic condition, life can become very focused on the practical side of management, such as diet, clinics, and routines. It's not always easy to see the bigger picture of connection and belonging. In this episode, we're joined by Kevin Alexander, a PKU advocate and storyteller. Through his work, he has helped bring greater visibility to the lived experience of PKU, exploring what it means beyond the clinical picture of how identity and community shapes everyday life in often unseen ways. We explore his journey from quietly navigating PKU to recognizing the impact of shared experience and how opening up through one personal story sparked a much wider conversation about belonging and what it really means to feel understood. Welcome to Metabolically Speaking, the podcast that dives into life with inherited metabolic conditions, proudly brought to you by Pam Brooke, delivering therapeutic nutrition for more than 25 years and empowering families to live without limits. I'm your host, Meredith Baker, and I've lived with PQU my whole life, so I know the ups and downs and all the in-between moments that come with navigating a rare condition. Each month I sit down with experts, advocates, and people with lived experiences for honest conversations about what it really means to live with a metabolic condition. Whether you're newly diagnosed, supporting someone you love, or been on this journey for a while, this space is for you. So settle in and let's get into it. Joining me today is Kevin Alexander. Kevin is a PKU advocate, storyteller, and filmmaker. Through his work, he shares lived experience of PKU and explores themes of identity, connection, and what it means to live with a rare metabolic condition beyond the clinical perspective. Kevin, we're so happy to have you here with us today. Welcome.

SPEAKER_01

Thank you so much. Looking forward to chatting with you.

SPEAKER_00

Of course. Thank you. Well, I'm ready to dive right in if you are. Sounds good.

SPEAKER_01

Let's go. Yeah.

SPEAKER_00

Perfect. Okay. To start, could you tell us a bit about your journey with PKU so far?

SPEAKER_01

Yeah, sure. So, you know, actually for most of my life, I didn't have any connection with the PKU community, didn't know anyone uh affected by PKU. In fact, um I actually would never have imagined years ago combining the two words, PKU and community, in the same sentence. It just wasn't even part of uh my thinking growing up. And um, you know, so I I lived in isolation for a long time, and then it was 2011 when I produced my film, My PKU Life, and that that's what kind of introduced me to this idea of oh, there's an there's a real community out there. So it was uh it was an eye-opening experience for me.

SPEAKER_00

That's great. Thank you for sharing just the start of all of your work that you've done. We often hear similar themes across metabolic communities, such as isolation, identity, and finding your people. Why do you think that is?

SPEAKER_01

You know, I think part of it is because there's just so much um variety, I guess, in the PKU lived experience, or really any any metabolic disorder. But when you look at PKU in particular, because um, you know, the community has been around for so long now and there's there's so many different treatments available, there's so much variety in that lived experience. So you might have someone who is on the very, very low end of their tolerance at one or two, maybe four grams of protein or eight grams of protein. And then, you know, um, like me before, so I'm on uh Sapritarin, and before that I had about 20 grams was my tolerance before that. Um these days I um I can eat about 50 grams, so pretty unrestricted. Um I still eat pretty much vegetarian, I don't eat any meat, but I can eat a lot more than I used to. Um but my point is that when you have a condition that affects people of so many different levels, it's it's kind of hard to look just at the medical aspect of it alone and find that point of commonality. But there's, you know, the there's a there's a shared identity that comes with it though. I mean, um, you know, for anybody that's been to an any PKU conference or camp or any event for that matter, um, if you sit down at a table and have a conversation with each other, you can either talk about PKU because you know the other person understands, or you can not talk about PKU because you know the other person understands. So it's just uh it's something that um I think is um it's just a very, very unique experience, and I think the more you get involved in the community, um you get to see what life is like for other people affected by this, and it kind of shapes your own understanding of what it means for you to live with it.

SPEAKER_00

Absolutely, for sure. What was the moment you realized you weren't navigating PKU on your own? Do you have a story to recall on that?

SPEAKER_01

Yeah, um, you know, I I would have to say that the very first time I actually I met someone with PKU um was was at a clinic visit, and then I was 30 years old. So I was 30 before I ever met anybody else affected by PKU. Um my my family had met someone, another family in the region um when I was younger, and um and we just never really uh got to connect too much with them over the years. But so I didn't I didn't grow up knowing them. I've since connected with them on social media, but um back then I didn't I didn't know anybody else affected by PKU at all. And so um I was at a clinic visit one day and just struck up a conversation with a woman who had a son with PKU and he was um he was young at the time. And um they were my first connection, and then really um after I produced my film and I started traveling and meeting other people, that's the moment when I really understood you know the power of community.

SPEAKER_00

Absolutely. That's a great connection. Thank you for sharing that. We often focus on managing PKU well clinically, but how do you describe the difference between doing well on paper and actually feeling connected or being seen by others in the community?

SPEAKER_01

Yeah, you know, my take on this is interesting because I understand, completely understand, that from a clinician's point of view, that the numbers matter, that doing our fee levels that matters. Um it's it's how they can measure how we're doing, and I completely understand that. Um But I also, in some ways, I also kind of take an intuitive approach to life too. Because, you know, when I'm having a bad day, I'm not immediately thinking what's my number. I'm thinking I'm having a bad day, you know, and so and so I know all the steps that I need to take to kind of course correct, you know, you know, track the food I'm taking or do a blood level or take some formula, whatever. I understand all of that. But I think that um, you know, people with PKU, I in I think we just have a a very intuitive understanding sometimes of our bodies, our condition, because we've you know, we have such a unique relationship to food. It's not something that we can just casually think about. It's a very, very there's always a decision there for every piece of food that you eat. So you you have a very you have a different relationship to food than the average person does. So I think there's so I think there's so much variety in the lived experience that um that just focusing on the the biological factor of our fee levels and how we're doing, that's a very, very important component, but that also affects so many areas of our lives that for me personally, these days, I'm I'm just much more focused on mental health and how I'm doing you know overall, because you know, if I'm doing it's just it's just a symbiotic relationship. You know, my mental health influences my ability to cope with my physical health and vice versa. So I, you know, I think it's um I don't like to look at life as just isolated pockets of, well, this is you know how I'm doing with my PKU diet, and this is how I'm doing with my mental health, and this is how I'm doing with my overall fitness. I to me it's all connected.

SPEAKER_00

Absolutely. It's health in general that all connects us, um, that everyone deals with, but specifically those with PKU have to take some more things into perspective. Just adding on to that question how do you protect your mental health while being an advocate, if you don't mind me asking?

SPEAKER_01

Yeah, um that is always ever evolving. Um and it's something I I've I've tried to start talking about more in the last couple of years because I had that wake-up moment of realizing, oh my goodness, it's been 14 years since I produced my film. Fifteen years, 15 years this year. And um, and honestly, I think the only the only reason that I have been able to keep doing it for so long is because it's only been in the last four years that I've really started thinking actively about mental health. But when I look back at my entire advocacy journey, I realized that I would take periodic breaks. You know, especially when COVID came along, I was I was very burned out on advocacy at that point. And I was pretty much not involved in the community for about two years at all. And um and I I definitely needed that. Um in coming out of that experience, one of the things that I realized is that I had spent so much of my time focused on advocacy that I wasn't really focused on my personal support system. So uh, like in the last few years, I've made a concerted effort to try to connect with other people in the community more on a personal level, not just based on, hey, we're working on this project together, we're working on this campaign together, we see each other at these events. Um, my PKU support system is not just my PKU support system. A lot of these people are like family to me now, and they're part of my just everyday support system.

SPEAKER_00

Yes, that definitely makes sense. And it's just going back to the family we get to choose, and we're lucky to be able to have the connections with having social media and everything now to keep us connected with all those in the community who are happy to do the same.

SPEAKER_01

So I think one thing that's really special about the PKU community is you know, in my in my day job, you know, I work in in video production, commercial video production now. And um and so in in that job, I do a lot of medical work, a lot of medical work. Um and so I get to interview, we get to interview a lot of doctors, we get to interview a lot of patients, we get to, you know, a lot of different aspects of the medical community. And there's just something really special about the PKU community as far as how tight-knit we really are can be. Umly, and for some people it's a little bit less personal, and that's that's understandable because everybody has a different way of approaching relationships. But uh, I have noticed that when you look at the PKU community as a whole, compared to maybe some other medical patient populations, um, it's just a different experience. And I and I do see that in other rare disease communities as well. Because it's so rare, it binds you together in a different way than say if you were affected by another more common medical condition. And I and I see that sometimes when when speaking with either you know physicians or speaking with others, you know, kind of in in my professional world, of you know, once they kind of maybe go to a PKU event or and see somebody else, they start to understand it's just a little bit different because it's so rare. There's just that bond that can that can happen in a very unique way.

SPEAKER_00

Absolutely. I couldn't agree more with that statement. So thank you for that. I know as a filmmaker, you recorded Finding Your Rare Disease Community while you were at the 2023 ESPKU conference. Can you tell us how this unfolded and what happened after you put it out into the world?

SPEAKER_01

Yeah, so that was actually an episode of my podcast, which I did that for a I did that for a few years, I did about for about two years actually. And um and that story in particular is actually sponsored by Cambrook. Uh they sponsored my trip to uh the ESPQ conference in Birmingham, UK, in 2023. And um I had the idea of, hey, let me interview as many people as possible at this conference, which sounded great on paper. But interviewing interviewing 26 people in two days is a lot. It was uh it was very now they weren't in-depth conversations, obviously like this. Um but uh but you know, I I um I just had this idea. I had spent um because my podcast was really not just about the PKU experience, but about the rare disease experience as well. I wanted to create a story that maybe it took place at a PKU conference, yes, but it was about more than just PKU, it was something for the entire rare disease community. Um and it it's something that I just again, when you go to any PKU event, there's just something special that happens when you see other people. You know, I've had that experience of meeting people who have never met anybody else with PKU before. And they have that same experience that I had when I was 30 years old. And um, and then they go to an event and they meet other people, and it's just this light bulb goes off and they just get it. And they they didn't they didn't even realize that how isolated they felt sometimes. And so um when I went to that conference, um, I interviewed 26 people affected by PKU from around the world. It just so happens most of them, uh unplanned, most of them were adults living with PKU. And so um got to interview people from all over, and uh again, the same story over and over and over again, you know, people talking about how just how essential it is to have a sense of community, um, and uh and and realize that it's just such a foundational part of that experience. So it was uh it was a it was a special um story for me for that podcast. I um uh released it shortly after I returned home and uh was just really, really pleased with it because it really did um there was something I wrote in my journal and I've been sharing on social media every now and then over the last couple of years, and it's PKU has no borders. We're one global community and we are all in this together. And it's something I I passionately believe. I wrote it in my journal while I was there, and uh I've been trying to share it as much as possible ever since because you know it's just something special that you can go to any PKU event in the world, and even if you don't speak the same language, you speak a different kind of language, and that's just you know understanding the PKU experience.

SPEAKER_00

Yes, and I think that's very important when also knowing you're going into these conversations that you have at these conferences or camps or whatever events you're going to, and you just can get there and bond and connect so easily, and I think that's what you're also getting to is you might not know the person in the room, but you also understand them.

SPEAKER_01

Yeah, and it's you know, and again, I I understand, and I say this there's certain things that I say all the time, yeah. It's just it's something I believe. And, you know, I encourage people to share their stories, I encourage people to connect with other people. Now, granted, somebody might be very introverted, they might be very shy, they may not want to be out there on social media, they may not want to, you know, connect with a lot of people and be a content creator and things like that, and that's perfectly fine. When I when I say go to a conference and meet other people and it'll change your life, I don't mean if you're an introvert, you have to put yourself out there, or that you, you know, you you must be forced to speak from a stage or you must be forced to meet hundreds of people. I'm what I mean is just if you're living with PKU by yourself, sometimes having one good friend can really make all the difference in the world. Having, you know, um, having somebody you can genuinely talk to. And those are the kind of experiences that happen at PKU conferences, camps, and different events. It's just such a uh a magical thing. And what's what's amazing is that once you've been in the community for a while and you've met people, and then you start going to these conferences, less with the idea of what can I get out of this myself, but if you start going to these events thinking, how might I be the person that can help someone else and and change things for them? And the thing is, there are so many opportunities to serve in the PK community, there's so many different organizations you can get involved with, there's so many different ways you can contribute on social media, there's there's not one path to advocacy, but the amazing thing is that it's everybody can find their own path. And if that path and if that path means you go to an event and you find one person that you connect with and you sit down and you have coffee and you have a conversation, that's the best thing you can do.

SPEAKER_00

That's great, Kevin. For someone listening who doesn't see themselves as an advocate, how can simply sharing their story, even in a small way, be meaningful?

SPEAKER_01

Yeah, so this is something that I'm passionate about because it's my career. Storytelling is my career. Storytelling is just an essential part of the human experience. It's just something we naturally do. Um, when we talk about our day, we tell a story. You know, we talk about the movie we saw, we tell the story, you know. It there's just so much about life that's just a story, and the reason why I focus on on storytelling as a form of advocacy is because it's so natural. It's because, you know, if if you're someone who needs to get involved in legislative advocacy because you're trying to get access to your PK medications, for example. Well, if you if you get your mind too focused on all of the details about, you know, uh the information sometimes, you can trip yourself up and you get stuck in your head and you can feel like I'm not doing this right, I'm not a good legislative advocate. You know what? The best thing you can do is to go in and have a conversation with your representative or their staff. You know, tell them your story, tell them what life is like for you. You know, you can take, you know, information can be communicated in a variety of ways, and you can take a one-pager in there and say, here's the information, but when you have them face to face and you're looking them in the eye, there's nothing quite like telling somebody else your story. And so, um, and I think that's true with legislative advocacy. I think that's also true like on social media. Um, you know, one of the reasons I I personally use social media so much for advocacy is because it's just a great way to number one, connect with people, um, but number two, it's a it's a great communication platform. And you know, we we take it for granted these days because it's been around for so long now. But, you know, it's it's become such an essential part of you know the advocacy experience and the PKU experience, and and it's it's something that anybody can do. You can go create a social media account and you can start sharing. And um and and so it's but the number one thing is finding a way to do that that just fits you and fits what you are passionate about and fits what you know you want to do in life. And you know, for some people these days, you know, producing reels is it's what gets the most attention and visibility and that they love to do it. Awesome. The reason why I don't do it, honestly, as much as I normally as I probably should if I wanted to get a message out there, is because I produce videos all day at work. Yeah. I don't want to go home and produce more videos. Yeah. And um, but uh but I also like to write. And um and so you know, I I have chosen in the last couple of years to just, you know, I've I've produced PKU films, I've produced a podcast. I'm just more focused on my website these days and writing longer articles because I enjoy writing. And and it's something that, you know, it's also something that when you do when you when you write something, it's easier for it to be translated. And we forget, if you live in an English-speaking world in the P in the English-speaking PK community, there is a whole world out there. And and you can do things in a way that might help somebody else who might just need to take what you've done and translate it. Um so there's there's there's so many different ways to get your story out there. Again, it's just about figuring out, you know what, what works for you. Don't look at anybody else out there in social media, don't look at what they're doing and and ask, well, why did they get success? Because none of us know why. The algorithm is friendly to us one day and then it's not friendly the next day. Yeah, definitely. So uh so don't look at other people and what they're doing. Just figure out what works for you and just be true to yourself.

SPEAKER_00

Yeah, and it definitely sounds like you found your niche through different seasons of life with living with PKU, with the ways you put out your work that you do, whether it's writing, videos, all the media that you do. It's nice to hear the different seasons that you also go through with your art, essentially.

SPEAKER_01

Yeah. Yeah. I mean, you know, when I was uh when I first started doing this, um I was younger and um I had more time um to produce things. And uh and the stuff that I do, the way that I do it, just takes a long time to produce. Um even my pod even my podcast, you know, I did um a couple of seasons of my podcast, and each season basically took like six or seven months for me to produce. So it's just it's just time intensive. And um, and sometimes in certain seasons of life I have more time, and other seasons I don't. And right now I'm just in that season where, okay, I mean I can write something while I'm at Starbucks in the morning because I'm at Starbucks all the time. Um but uh but you know, maybe in another season of life I'll do something else. I don't know. You know, it's just you know, we put so much pressure on ourselves sometimes, I think, because of you know, what does the social media algorithm want me to do? And I'm like, you know what? If you if you live your life on a 24 7 adrenaline rush, a Trying to please an algorithm, you're going to burn out really quickly. You know, all you can do is figure out what works for you, and in some seasons of life, you might be going through things in life outside of PKU advocacy, outside of the PKU experience, and you just need more time, and that's okay. And I think the important thing is, you know, to remember it's a community. It's not up to one person to do everything. You know, when one person needs to take a step back, whether that's social media advocacy or legislative advocacy or being involved in an organization, there's other people willing to sta uh to step up. And um, and I think that remembering that helps to take some pressure off of feeling like, well, I have to do this, I have to do this. Like, no. I think, I believe that any advocacy that someone affected by PKU can give is a gift, no matter what it is. It's not an obligation, it's a gift. Each you know, every single one of us is also dealing with PKU, whether we have PKU, whether we're caring for someone who has PKU, you know, we're all dealing with PKU, we're all dealing with life. The advocacy thing is something that some of us can do because we have the mental and emotional bandwidth to do it, but that doesn't mean that we always do.

SPEAKER_00

That's great. Great way to word all of that. Going back to advocacy, what does authentic advocacy look like to you beyond visibility or self-promotion?

SPEAKER_01

I think it's just important to remember that you know, we all have different skills and abilities and talents and gifts, and all that's okay. You know, some people might have more of an administrative mind, they might be really, really good at you know logistics, and so their ability to give to say to an organization might might appear in one form where you have somebody else who, again, is more of an artist, more of a creator. You know, and so it's it's a lot of times I think people we we look to the examples of people who have come before and who have done certain things and think, well, I need to do it that way. And to me, the way I look at it is no, don't look at what everybody else is doing first. Don't look at the results. Just take a step back and look within yourself and figure out, okay, what's what's my thing? You know, maybe there's a musician out there who wants to write music, and maybe it has nothing to do with PKU. But if you're someone who has PKU and you're involved in the community and people see you playing music, then that parent thinks, well, there's hope for my child. You know, and and you might not even be thinking that my ability to play the guitar, play the piano, play the drums, has anything to do with PKU advocacy, and ultimately it doesn't. But I think the gift that those of us who have PKU, adults who have PKU, can give to the community is sometimes just being ourselves. Because there's a parent out there who just found out that their child was diagnosed and they're scared to death. They've shut the doors, they've shut the windows, and they're in panic mode. And they go to social media and they try to figure out what's going on. Is my child gonna be okay? Can I handle this as a parent? And just the fact that we are out there living our lives, it's the best advocacy we can do.

SPEAKER_00

I agree. Sharing your story definitely means more than what some people believe. That even if it's just simply playing the guitar like what you're talking about, it gives people hope. So I think that's definitely something that you're sharing that is great for us to reflect on. For anyone who's feeling inspired to start sharing their own story, what do you think is a good place to begin with? I mean, I know you talked about finding your niche and your outlet, but just curious if you have any other um thoughts on that.

SPEAKER_01

In 2012, when I created my Facebook page back then, it's PKU Advocate Kevin Alexander's my Facebook page. I have a digital creator account now on Facebook just because pages are working a little differently these days. I'm on Instagram. Um, you know, those are the platforms that work for me. I'm also on LinkedIn where I connect with a different crowd there. It's more of the like the professional crowd and the new board screening world and you know, clinicians, physicians, that world. Um but social media is just what what worked for me, and um and my but my approach with it is just a little different. You know, I mean that was a long time ago, and for me, I had come from the broadcasting world, and I just basically treated social media as if it was TV news. You know, so I kind of did the same thing I used to do in TV news, and I did it on social media instead. And um, but that's what worked for me, and my approach, you know, uh I don't always share about my day-to-day life with PKU, it's just not something I do. Um it's not that I um have a problem with it, of course. It's not that I don't believe in it. I actually love following, you know, content creators who do that. It's just not what I do. And so, you know, I figured out, you know, well, what what is it that I do? That's what I'm gonna do. And um, but social media, I think, is is a great kind of low barrier to entry, you know, path to advocacy, if you will, because anybody can just create a social media account and start going. Whether that's you know, on TikTok, whether it's on Instagram, whether it's on Facebook, whatever it is, you know, there's there's all sorts of different paths for someone, but the one thing that I would say, and and this is where I'll take a step back for a second and say, you know, this is where I feel a little bit old in the sense of my approach to social media, um, but I remember a time when social media felt more like connecting with people. And I miss that. Um I I think that you know, content creation is a great thing. You know, whether you're talking about on you know traditional social media like Facebook, Instagram, TikTok, or you know, YouTube and looking at that as a social media platform too, um, I think it's great. It's a great way to get your message across, absolutely. But I think that one of the reasons why early on social media took off and really grabbed a hold of the culture the way that it did, it's because of authenticity, it's because of people connecting with other people. And if you put yourself out there on social media or you make videos for YouTube or whatever it is, but you're only thinking, what can I get out of this and how can I get my message across, and you're not thinking about how can I give back or how can I connect with other people, you're gonna miss out. Um, I think that social media works best when specifically, and I'm talking specifically about in the PKU community or in rare disease advocacy, because yeah, anybody can you can go out and create a social media account and you can try to reach you know the masses and you know have something you know to try to literally reach everybody on the planet and get millions of followers and millions of views. But let's be honest, if we're talking to the PKU community, you're not gonna get millions of followers. You're not gonna get millions of views. That's not the goal. Um, we're trying to reach a specific community. And I I feel like social media is pushing us away from that. I I don't like that. I still think like that, you know, I've had situations where on my PKU advocate Kevin Alexander page that I've posted about something completely unrelated to PKU because I was just trying to share my life with my PKU followers. And then the post blows up, and then people completely outside of the PKU community see that, and I think, well, that's great, but you're not gonna get most of my post, you know. And so uh, and I see that these days where I've I've seen friends who are content creators on Instagram who've shared reels about life with PKU, and they just get horrible comments from people who don't understand PKU. And again, the algorithms they're prioritizing reaching as many people as possible. My whole point in all of this is just this however you use social media, do what works best for you, absolutely. But don't forget that ultimately, if you're doing it to try to reach the PKU community, the best thing you can do is use it to try to actually connect with other people with PKU. Because there's an authenticity that comes across when you put yourself out there and people reach out to you asking for help and you just take the time to give it to them. You know, you can take literally, you know, five seconds to answer a message, and that could that one message to someone could mean more to them than you'll ever know, and you may not even know it for 10 or 15 years. So I just I think there's there's um there's a lot of potential in using social media to reach people with a message for PKU advocacy, absolutely. But to me, the best thing is it is a great tool for us to use to stay in touch with each other. You know, we might go to a PKU conference and meet each other there, and then you just all stay connected on social media. So um I just think it's a it's a it's a great tool when used with authenticity and when you remember that ultimately it's all about connecting with people.

SPEAKER_00

We've talked a lot about storytelling today, especially with you as a filmmaker. How has that approach shaped your work in areas like newborn screening?

SPEAKER_01

Yeah, so newborn screening advocacy has been another part of my journey that's really been as important to me as PQ advocacy. And and part of that's because um, you know, I produced my film, My PK Life, in 2011, and shortly thereafter, one of the first uh events that I went to was a newborn screening symposium. And um and that led to a variety of opportunities over a few years to speak at newborn screening conferences. And that really was just as eye-opening of an experience as going to a PKU conference for me. Because at that first event, it was a symposium of newborn screening researchers and people who work in the laboratory environment and people who work in the policy side of newborn screening, and they don't get to see or meet the people whose lives they're changing, whose lives they're saving. And and so I got to I got to speak and share my film and then just kind of share about my life with PKU, and and that really um kind of led to a long journey. At the same time I'm doing PKU advocacy, to me, newborn screening is just it it all goes together. Right because the history of newborn screening is and the history of PKU are just are forever linked. Dr. Robert Guffery, who invented the blood spot test for newborn screening, it's how they detect PKU when we're you know shortly after birth. Um it's it was all created for PKU initially, and then it expanded after that. So the history of newborn screening, the history of PKU, they're just forever linked. And and so over the years, um, newborn screening advocacy in particular has become a huge passion project of mine because I think there is it it's sometimes a challenge to speak about PKU outside of the PKU community. Because let's be honest, it's hard for people to understand sometimes. Not only do they not understand we have a medical diet or medical treatment that we have to follow that's this this diet thing.

SPEAKER_00

And it's not an allergy.

SPEAKER_01

Right. And it's and it's not a choice. It's not like they can wake up someday and say, I don't want to do the diet today. I mean, you kind of have to do it, you know. I mean, the PKU diet isn't really a diet, it's something that we really from a medical standpoint, we kind of have to follow it. And and to people outside of the community, they don't really understand that because to them a diet is a choice. So um it it's sometimes hard to speak about PKU with them, and then you add on top of that the fact that there's so much variety in the community now and different tolerance levels. So, what I what I found over the years is that when I'm speaking to somebody who doesn't know about PKU and I'm trying to share about it from an advocacy perspective, you know, in in journalism school, they kind of teach you the so what factor, right? If you're doing a story, if you're telling someone about you know trying to share some information, you gotta put that information in there so somebody understands, like, what do I do with this? You know, and so that so what factor is like, okay, this is great, but how does it affect me? And when you're communicating about PKU and you're sharing you about your experience with PKU, that other person may never encounter PKU ever again. And so if you're trying to share about something that's important to you, they're not gonna see the value in them remembering it unless you frame it in a way that they can understand and see how it's relevant. So what I've chosen to do over the years, when I talk to somebody outside of the PKU community about PKU, I eventually go into newborn screening because they may never meet somebody else ever again who has PKU. But everybody needs to know about newborn screening. Because it's, you know, it's not something we can really take for granted because newborn screening is not just really a test, it's a that you know, the the people who work in newborn screening call it a newborn screening system. It's this entire process from the beginning to the end that helps make sure that the test is performed, but that the diagnosis is confirmed and given to the family. And there's a whole process in between that every step in the chain has to work properly for this whole diagnosis thing to happen. And so everybody needs to understand it because they might live somewhere where newborn screening is presented to them as an option. And one of the films that I produced years ago was called 4K, and it was about a girl born in Mexico whose parents were given it, it was provided as an option, and it was told to them that it wasn't really that essential. And so they chose not to do it. And um and and when I interviewed them in the film, it it you could tell that the father really carried a lot of guilt about that decision because he said it was his choice to make and he felt like he chose wrongly. My point is that newborn screening is something that the rest of the world doesn't really know about, but they should know about because it's the it's the conversation that people should have when they're planning their pregnancies and they're finding out that they're pregnant and they're you know uh in the whole process, it doesn't need to be something that is just you know um it just happens and they don't know that it happens because I've interviewed a lot of parents for different videos uh who are uh parents of children with PKU, and for many of them they've never heard of newborn screening until they found out there was a problem, right? And you're they're already in a position where there's a problem, they don't hear anything else. So um, you know, I just believe that if people were aware of that it's happening, number one, if it's provided to them as a choice, they know that they should choose it, number one. Number two, that they should ask to make sure that it happens and make sure that they get the results. But number three, if they have a diagnosis that's communicated to them, at the very least they know that this test took place and they're not completely blindsided by it. So I think it's just something that over the years I've chosen to try to communicate to the average person about newborn screening more than just PKU because it's something they can walk away from the conversation and know that they can they have some information they can actually do something about.

SPEAKER_00

Yes, that is a great point. And newborn screening is connected to PKU and other IEMs in many ways. So I love how you're able to connect that with the community now for parents, teens, and adults listening, how can community needs and desires look different at each stage? And how do those needs evolve over time? Do you have any thoughts on that with your experiences?

SPEAKER_01

Yeah, sure. So I mean, part of that um is just my experience of living with PKU. I know that um that at different phases of my life I've had different relationships to PKU. Um I mean, when I was young, it was just something I knew about and I didn't, you know, question it or anything. But the understanding of PKU has changed a lot over the years. And when I was younger, they told me that maybe when I became an adult, I might be able to go off diet. So um I never went completely off diet. However, um, you know, I I did eat a lot of foods that I shouldn't have eaten, and I wasn't great at um you know, at tracking all the time. I tried to basically eat a basic vegetarian diet, right? And I knew that PKE was a thing I needed to take, you know, to remember and and take stay on top of, but I just didn't think it was that important, so I was just very kind of lax in following the diet very strictly. And um and then it was in my when I was in my 20s and started working um that I realized I'm not feeling well, I'm exhausted all of the time, I need to do something, I can't think straight half the time. And um, and when I got in touch with the clinic, that's when they told me that you know, diet for life or now treatment for life was the accepted practice. And so, you know, my my relationship with PKU changed a lot just in the course of just you know, when I was a teenager to my 20s. Um now these days I feel like I'm in a good place with my you know personal kind of like following my treatment, and it's just easier for me now that I'm sapotean, I have a higher tolerance, I still drink formula, um, but it the the day-to-day part of dealing with PKU is easier for me. However, um the advocacy part is has complicated things, you know, because because you know I have I have I have my personal life, my family life, I have my work life, I have my you know, PKU life of friends and you know PKU family in that world, and then I also have the advocacy part. And the the gift of that is that I have been able to travel and meet a lot of people, interview a lot of people, and I mean I went from literally knowing nobody at all affected by PKU to meeting a lot of people with PKU. And it's been a great gift because I've seen how so many different families all over the world treat it differently. Um and the that that one thing that I have learned is that everybody approaches this differently. And and your understanding of it might evolve and change over your own lifetime. Or you might have events outside of PKU that happened to you that affect your ability to cope with PKU. And all of that's all of that's normal. All of that's okay. I think there's the the one thing that I try to push back on these days is um, and I'm not saying that people have had bad intentions with it, it's just the way we've spoken about PKU for a long time. But we talk about things as if PKU like is this thing that we have to perfectly follow, and if we don't, then we're you know, we're just completely wrong and horrible and everything else, right? Or, you know, we talk about the diet as if like it's just simple, just do it. Well, the the the reality is it's you know, there's a lot of people that struggle with it. And um, you know, for in some situations you struggle because you can't get access to your treatment. I mean, it's really hard to follow a PKU diet very strictly if you also can't get your formula, because then you can't get good healthy nutrition, you know? Or um, you know, people's understanding of what um their education and their understanding of what foods they can and can't eat might be different. Or or they might have different tolerances, and so if you get two people with PKU together, but you don't know what their tolerance is like, and you see one person eating a high protein meal, you can't judge them because you don't know what their tolerance is. And and and so I I see a lot of times people will have that mentality of, well, just do it, just do it. I just don't think that's very helpful. And um, and I even uh years ago, I found uh I have a great relationship with my clinic these days. Uh I do, that's a great team. When my parents, you know, I yeah, I don't remember this, of course, but when I was very young, I actually found the um uh the some of the results that my family got back or communications they had from clinic, and they were using phrases back then like you've got to do better. And I'm like, that is just not helpful because you know, my parents are doing the best they could at a time where there wasn't any information really about PKE that was easily accessible. Their only knowledge of PKE is what they had with the clinic. They couldn't go on Google, there was no Google, there was no internet, there was no Facebook, there was no TikTok, there's no Instagram, there's no YouTube, you know, it's just everybody was kind of living in this isolated pocket unless you live somewhere where there's other people nearby. And uh and so my point is everybody approaches this thing a little bit differently, and I feel like that instead of judging other people and condemning them, if they struggle, or if they do things differently than us, or if you know, we know maybe what we what the medically optimal, you know, if you get involved in advocacy and you get to meet a lot of people and you get to meet a lot of doctors and you get to get all this information, you go to conferences, you're inundated with information, and it becomes second nature to you. But this you know, other person that maybe has never been to a conference, they've never met anybody else with PKU, um, you know, they may not know certain things to do or not do. And the worst thing we can do is judge or condemn them. The best thing that we can do is just show up as a community for each other and support them the best way they can. And everybody is on a different, you know, their own kind of journey and their path with PKU and understanding it. And the best thing we can do is just try to help them and not be so critical, but just you know, show support and show up for each other.

SPEAKER_00

And meeting people where they're at is a great place to start. So that is great. When you reflect on your journey with all of your experiences, what do you wish you would have known earlier about finding out about connection and confidence with approaching your PKU lifestyle now?

SPEAKER_01

Um, you know, I try as best in life to not live with regret. Um it's it's easier said than done. As you get older, you definitely regret certain things, you regret doing things, you regret not doing things. Um I won't say that I regret this, but I mean there's one thing that I I do wish, and that is I wish that I had the opportunity to meet people with PKU when I was younger. Um, you know, I what I what I love, you know, um one of the many things I love about going to a PKU conference or PKU camp is seeing the community relating to each other. People from all different ages. Um it's just a really special, beautiful thing to see young kids being able to interact with adults at a PKU. I can't I'm getting emotional now as I think about it because I can't even imagine what my life would have been like if I'd had a role model to look up to and tell me, you know what, it's gonna be okay. Um that's why I say the greatest thing that someone with PKU can do if you want to go to an event or you want to get involved in the community, um, you know, not everybody's at a place in life where they can give a lot in the community in in these outward visible ways, right? Not everybody's at a place where they can show up to, you know, meetings or be heavily involved in organizations. I've been involved in organizations, you know, my entire time. Um, but I've also gone through those seasons where I haven't been able to. And um and so I have gone to, you know, some conferences I've gone to and I've been heavily involved with what's going on and other conferences, I've just had to show up. The best I could do is just show up and be there. And all of that's okay. Because if you're if you have PKU or if you're caring for someone else who has PKU, sometimes the best thing you can do is just show up and give your presence. And and I what I mean by that is you can go to an event and you can sit down at a table and just your presence there might be the thing that's helping somebody who's silently struggling in the corner. You know, when they look you got a new parent who's terrified of how their child's going to turn out and they look across the way and they see a group of adults hanging out having fun. That right there does more than anything else at any sort of PKU event that's that's that's life changing. And if you have PKU just to go to uh an event and to be there around the other people who have PKU themselves too it can change your life in ways you can't even imagine. And I say that as someone who grew up completely isolated from the community and then I go to these conferences and events and you know there are people that I met at conferences in 2012 and 2014 that are some of my closest friends in the world. I don't remember anything that we talked about at those conferences back in 2012. I don't remember anything. But I remember the people that I met there and that's that's the gift of PKU events that, you know, that it's it's it's yes the information that you learn at these events and the experiences that you have there, the fun that you have there, it's all important, yes, absolutely. But what I think is equally just as important is every day after that conference and every day after that camp and every day after that event where you now have people in your life that you can reach out to not just about PKU but when you're just having a bad day and you're going through a rough time in life and you have a friend to reach out to and talk to and you can't really understand how powerful that is until you experience it.

SPEAKER_00

I agree. That being said I would say and you can give me your opinion on this but just being able to connect with someone as we've been talking about this whole episode by going to a local event or a camp or a conference it means everything. And I think you can agree with that Kevin but it's true. And I feel like I don't know if you remember but I did meet you at the first ever conference at the NPKA conference and I was 10 years old. But but I was looking at you across the room and like what you're saying and maybe it was doing more for my parents at the moment than me because I'm just a 10 year old but what you're saying is exactly right with how each generation in the PKU community is going through a different type of PKU with different education that we have in those moments. Because what you and your parents were told at diagnosis I'm sure was not the same for me and my parents but we're able to grow and connect and the whole community is able to just experience this life together and it's very meaningful.

SPEAKER_01

Right exactly I mean it's it is the the connection that can happen at any of these events if you've been to one of those events you understand it. And I understand that for some people sometimes the ch the challenge is traveling to events depending on where you live and I do understand that. I will say if you're ever able to to you know if you're ever able to go if you have the opportunity and even if it's going to be a little bit of a sacrifice I personally would say make the sacrifice. I have chosen myself to prioritize when I look at taking certain vacations you know planning things out for the year whatever I always try to prioritize a certain amount of fat time to PKU conferences you know because I've been around the community for a while it's not that because I'm just trying to go to hear the information which I think is super super important. I'm also connected in the community and talk to people frequently so I get a lot of that information. But for me I show up number one because I need the support of someone living with PKU first and foremost but I also understand that other people out there you know might just need to meet somebody else who's doing okay and just meeting them and having a conversation with them might be the thing they need.

SPEAKER_00

Absolutely well thank you so much for joining us today Kevin and for sharing so openly through this conversation on your experiences it's been powerful to hear your reflections and connection and the role of storytelling and advocacy and how it can all play a part to help people feel less alone with PKU or another IEM. The way you've used your own experience to open up and space for others it is really meaningful and a reminder that shared stories and quiet forms of advocacy can bring people together in unexpected ways.

SPEAKER_01

Thank you for having me.

SPEAKER_00

Of course now it's time for community questions in this segment we'll ask questions you the audience have submitted giving us a chance to explore our guests story and new and personal perspectives ready Kevin? Ready so our first question today comes from Pauline she wanted to know how did you learn to advocate for yourself?

SPEAKER_01

Well hi Pauline You know that's been a um it's been a journey for me for sure um before I got involved in advocacy I didn't talk about PK very much. It was something that for most of my life I kept quiet about I just didn't talk about it at work. I mean yes people at work knew about it but I always tried to kind of minimize it and just kind of you know have as least communication as possible about it and just make it through the make it through the day. I have a different attitude these days I talk about it a lot more frequently but for me it was I I like the way that you phrased the question because a lot of times when we talk about advocacy we think we're thinking or at least I'm thinking advocating for other people I mean I I like words and defining words and everything and literally an advocate is somebody who speaks on behalf of another but I do think that advocating for yourself is the best place to start. Honestly it's how it started for me. The reason why I produced my film My PKU Life is because I heard that that I might be losing support for my PKU formula. And so I wanted to do something to kind of raise awareness of the issue. So it started as me trying to advocate for myself and just kind of went in a different direction that I didn't anticipate. But but I learned through advocating for myself what it also means to advocate for others. But that that you know that focus on learning how to speak up for myself it's something I'm always you know constantly trying to understand.

SPEAKER_00

Our next question is from Carolyn. She said I'm wanting to raise awareness for PKU in New Zealand. I've connected with the rare disease community but I'm not sure what to do next. I'm looking at running events, coffee mornings, podcasts or whatever other ideas might come to mind where I am living at what advice could you give me for raising awareness on PKU in New Zealand?

SPEAKER_01

Oh hi Carolyn it's nice to hear from you first of all if you're having a coffee event I better start booking my uh flight now and join you in New Zealand because I love coffee and coffee in PKU I mean come on that's just like you know I have a few friends that we uh when we meet up at PKU conferences we always joke that we're sitting in the back as close to the coffee as possible. Now I think really um the best I can advice I can give is uh is to first of all do what feels natural for you. You know it can be as simple as finding a way to host a meetup there in your city. And if that's just a few people that's okay. I mean you you know I don't know exactly where you live and if what the population is of BKU population is like in in your area but all that matters is getting a few people together to have that common bond. So I would say yes a great thing a great thing is hosting a local gathering because you know again I love social media it's a great way to stay connected with each other but there really is nothing quite like sitting down face to face and having a conversation so definitely think that hosting an in-person event would be a great idea.

SPEAKER_00

Absolutely I love that idea. Our next question is from Debbie and she said I know there isn't a crystal ball to tell the future but how do you imagine your life over 60 personally and do you imagine there'll be a cure for PKU by then? This is a tough one.

SPEAKER_01

Yeah first of all hi Debbie it's great to hear from you um you know I I kind of have two answers for that question. First from a PKU perspective yes I I mean I do have hope at least that sometime in my lifetime we will have a cure for PKU. I don't know if that'll be by the time I'm 60 or if that's just going to be later in my life. Maybe it'll be before then I don't know but I definitely when I look back at when I was growing up I never thought about a cure for PKU. And and truth be told I don't actively personally think about you know a cure for PKU me personally day to day but that's also because I you know I'm doing okay with my PKU experience it's not something that I'm just constantly actively thinking of because you know my situation is is just easier for me to cope with now right um so I do have hope that someday um that we will have a treatment. But the other part of my answer to that is um you know when you when you uh talking about the future I think it's important to plan for the future absolutely but you know I've had some experiences in the last few years that have really kind of um been eye-opening for me personally and I just try to live as best I can day to day um fully alive fully awake fully in the moment it's a lot harder to do than it sounds um but you know there's no guarantee I'm gonna live that long let's just be real you know um something can anything could happen and I yes I you know daydream and think about what my future is going to be like absolutely I just try not to think about it too much because I don't want to get so stuck in my head which I can do that I stop living in the moment I stop appreciating where I'm at right now in life so um there there's that's kind of two different answers um but you know it's just the way that I look at it I'm trying as best I can to you know live life right now and um make sure that while I'm alive that I'm actually living.

SPEAKER_00

I like that answer Kevin and I think this is a topic that we could go on for for hours and this is a topic that I've actually had with other PKU friends at different events but also like if there is a cure do you want to take the cure is another point of view. And I'm not saying you have to answer that. I'm just saying like if the cure was sitting at a table in front of me and I had the option to take it today I don't want to be cured and that's a hot take. And some people will not understand that and that's okay we're all in our own different phases of life but it's different with different perspectives living with PKU the providers who are working for people like ourselves with PKU the caretakers everyone who's a part of this journey but if the cure is there when is it going to be and do we want it in that moment or is that for the future if it's available?

SPEAKER_01

You know I can't really answer I don't know what I would what I would do if there was a cure it really depends on what you know what it is like just to be honest you you know you ask I'll answer this part I just personally wouldn't choose to do gene therapy just not something I'm interested in. I just don't want to do that. But you know I also know that I'm on saperin. I know there's other people on other medications. There's some people who don't feel comfortable with those treatments and that's their choice to make too so I'm gonna answer this in a little bit different way which is not necessarily medically but I personally I love studying psychology. It's one of the things I've studied in school I think it's very important no matter what choice you would make medically or biologically I think it's very important that everyone living with PKU understand one thing and that's just you are perfect the way you are. There's nothing wrong with you because you have PKU. Yes it's a biological thing yes it's a medical thing yes but that doesn't mean you're any less of a person because you have PKU and I know because I'm on social media I've had conversations with a lot of people over the years a lot of people honestly all the public work that I do the the films the podcasts the articles I love it it's what I do creatively and I love it absolutely but the most important thing to me that I do is just talk with other people at PKU and the constant thing that I see from a lot of people is people who feel unsupported and people who have felt judged and condemned and criticized their entire lives not necessarily by their family but you know we all we all we all have a social you know circle of different kinds. And some of us have a tough time in school some of us have a tough time at work some of us have a tough time with family. It's just people are so different and you don't know what somebody else is going through. But I see that story over and over and over again of somebody who has PKU who feels just like there's something wrong with them. There's nothing wrong with you. You have a medical condition absolutely we all have something we're dealing with we didn't plan for and we've got to learn how to deal with it and we all have to learn how to deal with it in our own way. But that does not mean there's anything wrong with you. And so if a cure shows up and if it's a choice for you to take that's your choice to take medically absolutely it's it's your choice to make but psychologically don't do anything because you think you need to fit in with other people don't do anything because you think that there's something wrong with you because of the way that you are there's nothing wrong with you the way that you are yeah and you don't need to be fixed.

SPEAKER_00

The cure isn't gonna fix you.

SPEAKER_01

Correct it's it's it the cure is something yes that would do that would make a biological and medical change in your life and if it would make your life better then great. And it's I know that that's very very important for very many people. And so I'm not and I'm not commenting on it either way. But all I'm saying is that don't let that desire to fit in with everybody else around you be the reason why you choose to do anything and I mean anything. You know I I I talk to people who are you know ashamed about taking their formula in front of other people. And that's a personal choice. I understand that you know frankly sometimes you want to do it alone for a variety of reasons. That's understandable. But what I'm saying is don't make any choice just simply based on you're afraid of how other people are going to treat you. And if if you're in an environment where people are treating you that way, the best thing you can do is just get out of the environment. And that is one of the great things about going to a PKU event is if you're one of those people who's seriously struggled with the social aspect of PKU that's affected your mental health because that can be when you're surrounded by other people that you feel like don't understand you and are judging you and condemning you that has an effect on your mental health. And the best thing you can do is try to go to a supportive environment and that's one great thing about a PKU event of any kind is you're gonna be around people who understand but are also going to support you and have your back.

SPEAKER_00

Right. And with this conversation there's different opportunities and different types of formula different treatments as you've talked about and just like the cure in the future hopefully if we do have that option I should say when we do have that option of having the cure um there's different times of life where it might work and be great to take on but thinking about it now is also important. Is this what I want now or is this something that might be great for us in the future and that's with treatment different types of formula different flavors everything that's a part of this whole journey. But the great thing is we go back to community and how we all have the support of each other and whether that's from our care team in the clinical setting home friends the social media community all of it above I think we all have a great future coming to us with all of the options we have right now and more that are to come.

SPEAKER_01

Yeah and and one quick thing about that is um you brought you brought up a great point of the choice that you might make uh the choice that you might make medically about a treatment or a cure someday does also depend on what phase of life you're in. And a quick example of that is um Sapritarian had been around for a few years before I started taking it. And the reason why I chose not to at the time is because I was in graduate school and I felt like that I needed to finish you know what I was doing and be out of school before taking on something that I didn't know how I was going to respond to it. I didn't know you know at the time I was I was you know I was anxious about it but it was a great choice for me but I waited until the timing was right to make that major change in life and that is something I think people do need to understand is if you if you take any new treatment whatsoever and if it works for you it's gonna change your life. It's there's gonna be aspects of it that you're not you know to go from thinking if you have a response where you can eat more protein let's say to go from thinking don't eat too much protein don't eat too much protein don't eat too much protein to now eat more protein eat more protein it that it it it messes with your mind. You have to get used to that and that's if you respond to it there might be other changes that you go through that are unrelated to even just the medical side that you need to factor in and realize there might be certain seasons or times in your life where it is better where you can focus on that exclusively and sometimes being in school or if you're you know you have something going on with your job maybe that timing just isn't right yet.

SPEAKER_00

Right. I love that thank you for sharing that Kevin That is all for today's community conversations. If you want to include a question in the future episodes keep an eye on our social media posts as I'll regularly ask for input from our community. As we wrap up today's show remember that you can find helpful resources as well as more information from Kevin in the show notes below. Thank you for joining us today Kevin and thank you for sharing so openly throughout this conversation it's been powerful to hear your reflections on connection and the role of storytelling and advocacy and how it can play in helping people feel less alone. The way you've used your experience to open up the space for others is really meaningful. It is a reminder of how shared stories and quiet forms of advocacy can bring people together in unexpected ways.