From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency

[00:00:03] I'm Effie Parks. Welcome to Once Upon A Gene, the podcast. This is a place I created for us to connect and share the stories of our not-so-typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can hear the triumphs and challenges from others who get it, we can find a lot more laughter, a lot more hope, and feel a lot less alone.

[00:00:31] I believe there are some magical healing powers that can happen for all of us through sharing our stories, and I'll take all the help I can get. Once Upon A Gene is proud to be part of Bloodstream Media. Living in a family affected by rare and chronic illness can be isolating, and sometimes the best medicine is connecting to the voices of people who share your experience.

[00:00:56] This is why Bloodstream Media produces podcasts, blogs, and other forms of content for patients, families, and clinicians impacted by rare and chronic diseases. Visit BloodstreamMedia.com to learn more. Hi there, and welcome back to the show. This is Once Upon A Gene, and I'm your host, Effie Parks. I have a really fabulous guest for you today, and you might have seen him around lately.

[00:01:21] He's an extraordinary storyteller whose journey in rare disease definitely transcends the ordinary. He is the recent champion of the Beast Games, where he won $10 million, and he is the force behind the Ruck for Rare challenge. And he's going to talk a little bit about both of those. But mainly, what I really hope that you get out of this is a story of resilience and passion and heart.

[00:01:48] He really opens up about his life as a dedicated dad and sharing the deeply personal challenges of raising his son, Lucas, who lives with a creatine transporter deficiency.

[00:01:59] Really prepared to be moved and uplifted by our conversation that celebrates monumental achievements, but really shines a light on the courage that it takes to turn personal struggles into powerful advocacy and just really getting to know yourself and make yourself better for your entire family. So I hope you love this conversation as much as I do. Please welcome my guest, Jeff Allen.

[00:02:30] Hi, Jeff. Welcome to the podcast. Super excited to be here. Thanks for having me. Yes, I'm excited to have you here too. I've been seeing your face all over the place, as I'm sure many of our friends listening have. And they're like, who is that guy? Where did he come from? So yeah, I'm excited to have you here and introduce you to the families who may not know you as well. So can you start by telling us a little bit about yourself and your son, Lucas? Sure. I'm Jeffrey Allen. I'm mid-40s. I'm a father of two and a husband to Jen.

[00:02:58] My oldest son, Jack, is nine and his little brother, Lucas, is seven. And Lucas has a rare disease called creatine transporter deficiency. The easiest way to think about it is our bodies make creatine naturally and so does his. But then it goes into the bloodstream and gets taken to the organs that need creatine as energy. The transporter that takes it from the blood to the brain or the blood to the muscles is defective.

[00:03:19] So his brain doesn't get the energy it needs to function, develop and thrive. And so he just has a ton of challenges with regard to kind of his development and his functionality in an everyday basis. What does that look like on the daily for him? So for him, he's seven, but cognitively and developmentally, he's kind of way behind. So he has a few words that mom and dad can understand. So challenges communicating, challenges expressing himself. Three out of five kiddos with this condition are epileptic. Knock on wood, Lucas is not seizing.

[00:03:48] Hypotonal, just a lot of challenges that a lot of kids in our community, a lot of overlap. But I'd say the beautiful thing about Lucas is he doesn't worry about what he did yesterday, is not concerned about what happens tomorrow. He is here in the moment, in the present moment, and he is a sweet boy. So he has taught me more about life than any coach, mentor or teacher. And he's just, he's a sweet boy.

[00:04:10] I think every single parent listening has that same sentiment toward their kid and how much sort of changed our, our perspective on so many things. If you can think of something off the top of your head that has sort of been, I guess, sitting in your heart lately, what's the top thing that he's taught you that none of those mentors taught you? Yeah. You know, everybody always tells you that life, you know, is not going to be easy, that you're going to have challenges. Lucas has taught me that there's beauty in these bumps.

[00:04:37] You know, understanding that, yeah, no one kind of wakes up one day and says, hey, I want to have a, I want to have a child with a rare disease. That's something I want to do. So when it happens, you have to like, for me, I have to find the reason I have to find the beauty in it. He's transformed my life. You know, my older son, Jack brought kind of sobriety to my life. Lucas brought faith back into my life amongst other things. And now I can be able to kind of look backwards at different things that happened in my life that I would constitute as challenges or bumps. And I can see the beauty that came from it.

[00:05:06] So I'm not saying, hey, like bring on challenges left and right. But I do have just a lot more confidence that when challenges come my way, Lucas has taught me that there is beauty in there, dad. Like you just got to go find it. I love that so much. There's so many folds to that too, right? Like facing adversity. Obviously, of course, you don't want to. It sucks and it's uncomfortable and can be completely horrific. But there are those lessons, right? And there is that point of digging deeper and seeing this whole other light that you never would have seen.

[00:05:34] But also just the coping skills that every time you face something difficult gives you for that next hard thing. A hundred percent. I mean, like in that it's, you know, I recently rucked across the state of California. So rucking is when you carry weight on your back and you walk. And so I walked, I rucked 365 miles from the Nevada border to the California coast to represent the 365 days that Lucas carries the burden of CTD.

[00:05:59] And I was so scared. Like, how am I going to do this? I am not an endurance athlete. The most I've ever rucked is 15 miles, but I got up and I did it. And it just kind of, again, teaches me that like, there's so many things that I don't think I can do. There's so many things that right now I might put limitations on what Lucas can do. And I guess I have to keep reminding myself is try not to put limitations on it. Be open to all and go out there and try something. Who cares if you fail? Who cares if it doesn't work out? At least you have more confidence to try more things out.

[00:06:27] Amen. I think that's a really important muscle too, that you gain and you don't have to start perfectly, right? Like you said, you'd only rucked 15 miles. You don't have to be perfect and be a professional at something, no matter what it is from podcasting to long walks and hiking. But once you just begin, you can find your footing. Totally. No pun intended for your ruck.

[00:06:48] But it's so true. And I've always been adventurous. I've always kind of like liked to do things, but I rarely did them where they were consequential or where a lot of people knew about it. And I think this is one of the cool things about the ruck and even about being a rare disease, special needs dad is I've had some friends who were like, Hey, I'm really proud of how you're handling over the years, how you're handling being Lucas's dad and how you're open about it. I'm like, was there another way? Like what else would I do?

[00:07:13] But I realized that a lot of people might not have the courage or confidence to go out to dinner or to feel kind of judged or looked at when you have a child that behaves differently or looks differently or acts differently. And so like stepping into that and doing it once allows me to do it again, do it again. And then I realized, gosh, you know, people aren't judging. People actually want to learn. People want to help. And I think just being a rare disease dad, I've realized that there are more people who care than I ever thought would ever care.

[00:07:41] And it's a, it's gives me a ton of hope for humanity. It's like one of the best bonuses in all of it, right? Because it never stops. I feel like every single day, there's like a new person that comes into my path for the exact reason that they're supposed to be there for our kids or our family. And it's just really marvelous because I don't think that before having a child like Lucas, like Ford, that we necessarily would have put as much weight or notice to something like that.

[00:08:07] You're spot on. And the thing that I've realized too, is that these people that come into our lives, they're exactly where they want to be. So not only do we get the benefit of them coming to our lives, they get the benefit of sharing their specific gift or talent or money, whatever it may be, or time. And I think for me, like that's like, I think our ultimate purpose here on earth is to learn how to share more. And so if we can allow people to share their gifts with our children, with Ford or with Lucas, we're doing a service for them too.

[00:08:35] Amen. Amen. Back to the Ruck for Rare, because I want to highlight a few cool points. One, good job. It was so awesome. There's a lot of footage online that people can go watch it at. So let them know where. And it was fun too, to see some of the videos because you were with a buddy most of the time. And it was just genuinely adorable. But I loved your mission. And I loved how positive it stayed. You know, obviously, I know your feet probably had blisters and all of the things.

[00:09:01] But what about having someone there with you sort of helped carry you through that? Yeah. And how much did that sort of impact your progress? It was huge. And just to kind of give you a perspective to the listeners is this is another contestant who I met on Beast Games. And he was Jeremy number 991. We became friends early on. And then when we were, I think it was episode five, we were on the island of Panama.

[00:09:27] And we were sitting out underneath the stars at night just chatting, you know, and he's got four kids, I got two. And he's like, Hey, you know, I saw your Instagram, I saw that you do these walks over for walk for strength to raise awareness and raise money goes, because you got a great story. He goes, I'm a documentary filmmaker, he goes, I would love to help you for free. Like I want to how can I help you share Lucas's story more. And we started thinking about ideas. And so even before I won Beast Games, we had this idea of let's do something that's super challenging on us.

[00:09:57] Where we can tell Lucas's story and go do it. And so it's just neat to from an idea to an actually for it to come to fruition is one thing. The second thing is, he's become like a soul brother to me. I've gotten to know him really well. We have a lot of kind of overlap when it comes to family and faith and kind of adventures. And it was just to your point, Effie, we had this amazing kind of banter back and forth. We're like two brothers who are picking on each other, but it's fun. Absolutely.

[00:10:23] And yeah, the rucking across California every day where you wake up and you do the same thing could be monotonous and could be like, oh my gosh, just let me get this over with. But we made it so fun. And this won't be our first adventure like this will do. God willing, we'll have a handful more in the future. Again, the people on the path when they're supposed to be with the gifts that they bring. Totally. There's so much proof to it. Was there any moments on that long walk that sort of brought out some emotion that you didn't expect?

[00:10:52] I know like, you know, even just doing yoga sometimes it can really come up. And I wonder if having sort of like that solitude of walking and the movement in your body, if it did that for you at all. Yeah. Great question. So we started in Death Valley, then went to Panamint Valley, then went to Kern Valley, and you see the terrains change. You know, it goes from desolate desert to a little bit of greens.

[00:11:14] And then we ended up kind of in the orchards of Southern California. But I remember in Panamint Valley, and this was our first day where, you know, people could donate and take weight off our back. And someone donated to take weight off our back for a couple hours. And we hiked up this really high, really steep hill and overlook Panamint Valley. And I just started crying. I was like, Oh, my gosh, like, this is so beautiful. I would never have walked. I would never have I've never been in this part of California, I would never have walked this, even if I drove it, I wouldn't see how beautiful it was.

[00:11:42] But it was because someone helped take the weight off my back, carry the burden for me, that I was able to experience this differently. And it just, you know, allowed me to like, think more about I might thought a ton about my family, I thought a ton about my wife, and both Lucas and Jack. And just to think that Lucas traverses this crazy world with a rare disease with a smile on his face. And, you know, just, again, I was able to see the beauty in all these different terrains and all these landscapes.

[00:12:08] Some days where I catch myself, gosh, I'm just trying to get this over with. And there's other days where I was like, man, embrace it all. And so it was, it was awesome. But every different day, every different terrain brought a different kind of view for me. And I tried my best to stay present and keep with it. That is so beautiful. And also just really goes back to like our real day today, where those days happen where we're like, Oh, my gosh, please make this stop. Why is this happening to then just being like so deeply in the moment and grateful for everything around you.

[00:12:38] Yeah, it's, yeah, it's, I'm so glad I did it. You know, I was nervous to do it. I didn't, I didn't realize how beautiful it would be to do and to experience and also to allow people support. I mean, I had seven or eight friends who came and rucked at least a day with me. And they wanted to, I shared it earlier, but I have to say it again, is like, when, when you go out and do something, and you, you want to kind of raise awareness or raise money, people want to support us, people want to help us.

[00:13:07] And I think part of our duty as a rare disease parent is to be an advocate to allow other people to kind of share in different ways where they haven't. I can't wait to do it again.

[00:13:16] Such a good point to really highlight of the letting people in and letting people help and letting people carry some of your burden, but then also coming in as a partner to be able to identify your story in theirs, even though they're so different. There's so much human connection through all of our experiences, and it doesn't have to look the same to resonate with someone. Totally.

[00:13:39] Yeah. So you mentioned the Beast Games. We can't leave without talking about the Beast Games. I didn't even know what they were when I heard your name for the first time. I feel like I knew that this Beast guy was a YouTube guy just from being on social media. But you just like came out of nowhere to me and brought like this giant rare disease awareness campaign through being able to do this too, which was so amazing.

[00:14:02] And we're always so thrilled when we can get past our rings in society to let other people know. So can you give us a rundown of the Beast Games? How'd you get in there? How did you win that? And where can people go and check it out? For sure. Before we kind of get to it, do you know Terry Jo Bichelle? Of course.

[00:14:20] So I need to thank Terry Jo Bichelle for the inspiration. So Terry Jo Bichelle runs Combined Brain. She was the keynote at our Association for Creatine Deficiencies Patient and Scientific Symposium in 2022. And while she's up there, she goes, hey, by the way, I've discovered the silver bullet for curing a rare disease. And so everybody's on the edge of their seat. Like, what is it? Oh my gosh, please tell me. Like, we want to know. And she goes, you need to find someone with notoriety or a celebrity who has a child with one.

[00:14:47] And I'm like, oh, I'm like, okay, I'm not a celebrity. I'm just a, you know, sales leader. I'm just a dad. But what can I do to figure out a way to get a platform? And so when I saw Beast Games, the application for Beast Games in early 2024, and by the way, Beast Games is a game show that's ran by Mr. Beast. Mr. Beast is the number one YouTuber in the world. He has 370 million subscribers. If you know anybody under the age of 25, ask them if they know Mr. Beast. Nine times out of 10, they'll say, oh my gosh.

[00:15:17] Yes, I know Mr. Beast. So he's an amazing guy. So when I saw the application, I go, hey, this is my shot. I can get on here. I can have a platform to talk about Lucas's condition. And, you know, God willing, if I go far enough, Gary Joe Bichelle, I can, you know, become a kind of a pseudo celebrity and have a better platform. And so I applied, got on, and I did not expect to meet so many amazing people. Like, I think that's the biggest takeaway for me, even though I won and I won a handsome sum.

[00:15:43] The second biggest takeaway for me was there was amazing friends who are really good people. Gave me a ton of hope for humanity. And I was kind of the odd one out. I was definitely one of the older ones there. There's a ton of 20, 20-somethings, 30-somethings who were absolute terrific people. So I got on, and my ultimate aim was, can I get far enough to where I can talk about Lucas's condition, creatine transporter deficiency, on global television.

[00:16:09] So this was aired in over 140 countries in the world. And so I did. I got to the top 10, and I'm like, oh my gosh. Like, they're asking me questions about Lucas. Like, this is going to be on TV. And then I realized, wow, I'm in the top 10. I think I have a shot to win this thing. You know, fortunately, with some good luck and some good playing, I was able to be crowned kind of season one champion, which ended up with a, you know, a handsome sum of money that I can help kind of help my family out and also help fund research to ultimately find a treatment.

[00:16:38] What's been really surprising for me is the amount of support I've gotten over direct messages on Twitter or Instagram or even YouTube. About people who want to help. So researchers would literally, you know, did research and written abstract. Hey, these are some things that I think could work for to kind of bypass the SLC6A gene, the gene that is the transporter to get creatine to the brain. Have you thought about this? Have you thought about that? Let me connect you with this.

[00:17:03] There is a professor at a university that I won't name, really prestigious, who says, hey, I'm working on proteins. And I really think that there's a possibility to do some protein kind of modification or X, Y, and Z to help with creatine transport deficiency. And I let them know, hey, there's already a doctor at your university who's working on it. And I told him, he goes, okay, I'll email him. I have a couple other emails out to a couple of doctors who we want to collaborate. Like this is worth spinning cycles on. And I think part of what I've realized in the rare disease world is there's people who want to help,

[00:17:33] but they've never even heard of our condition. And so, you know, part of it is, is how do we make people aware of it? And again, I don't blame them. I'm not mad at big pharma. I'm not mad at academia. I understand that people have to prioritize, but at the end of the day, it's up to us as parents to try to advocate for our kiddos. And we can either do it kind of, you know, clenching our fists, white knuckle, or we can do it with a smile on our face. And I think there's a time and place for both, to be honest. It's been awesome to feel the support from folks.

[00:18:00] And my ultimate aim is how do we, how do we find a treatment for kiddos with this condition who are even yet to be born? But, you know, my ultimate aim for Lucas is like, how do we help elevate more rare diseases and kind of continue? And I think the rare disease community has been, has gotten so much great advancement over the last five years. But I think the next five could be absolutely tremendous. Yeah, absolutely. Shout out Terry Jo. I'm so glad that you saw that talk.

[00:18:25] And I just love how hilarious and fitting it is that a rare parent is like, okay, fine, I'll go be the celebrity. I just love that. Like, there's nothing that you can't pick up, right? I think once you're faced with this, if you want to try to pick it up. Yeah. Everything is Herculean, right? And nothing can stop a parent when they're trying to save their kid and other kids like them.

[00:18:50] And as you know, the power of telling your story can get that spread so far and can make so many people care. I mean, even just making the scientists or the researchers in that lab communicate with each other and build a plan together. It's just, it's, I love how all the pieces connect because a parent's like, okay, I'm picking this one up. And that's just really cool. Yeah. And really, congratulations on the Beast Games. That's no joke. No, I mean. That's very cool.

[00:19:15] You're kind of, I'm getting goosebumps kind of thinking about it, like just how, and it hits me every now and then, just how blessed I am to have had the opportunity. And obviously, I understand that I created it. I created the opportunity, but I also had a lot of help from people in the games to get through different challenges, you know, and obviously help from my wife to be gone for five weeks. Yeah. And just had a lot of prayers from a lot of folks and just, you know, I know the games are over, but my journey is really just beginning.

[00:19:44] And even though we've been advocating for years, like now I have a responsibility to continue to kind of advocate for not only CTD, but our community, rare disease community as a whole. And it's an honor to be able to do it. You've created a tremendous bridge for us and the outside world, right? That needs to peek in and see what's going on here. So that's so cool. I kind of want to talk about your dad, your dadvocacy.

[00:20:06] You know, I speak to as many dads as I possibly can, and I speak to many just in email and messages who tell me how valuable it is when there's another dad on the podcast who's willing to share their story. So I wonder, do you have any words of wisdom for those dads, advice for those dads, or maybe your own sort of journey into realizing how important it was for you to maybe get in touch, you know, with this side of how you tell your story or Lucas's story and what it changed?

[00:20:35] It probably starts for me back, you know, I was raised, I was the youngest of five kids. I had four older sisters. So for me, you know, I was maybe spoiled for about eight years and then I had five moms for the rest of my life. But it taught me how to kind of communicate and kind of share my feelings. And, you know, so I owe a lot to my sisters and my mom about just how, you know, I'm just, I'm a communicator. I like to talk. I like to listen.

[00:20:59] And I think as a dad, oftentimes, you know, we're, we're fixers, you know, our wife comes home and they're upset. What do I need to do? What can I do to fix it? You know, sometimes they just want to be heard and connected with. Again, I'm talking to myself as I do this. I need to remind myself to do this more often. And I think when we got diagnosed, you know, it was after, you know, a 20-month diagnostic journey. When we got diagnosed, I was like, there's no cure. There's no treatment. Like they can't fix him per se right now.

[00:21:26] So one of our practitioners, I forget who it was, was like, you know, sometimes you have to move from fixing to connecting. And the moment I kind of started to embrace that more and meet Lucas where he was, you know, kind of things transformed for me. And, you know, I was, I was just fortunate to have, my life changed a lot in the years coming up to Lucas's birth. Like I shared, like I became sober. So I was just more conscious with my time, more conscious with my thoughts. And once Lucas was born, I was like, oh my gosh, like I need, I need to learn how to pray again. Like, how can I help?

[00:21:55] And I reached out to a friend who helped me kind of reconnect my, my relationship with, with God and with faith. And that's transformed me. And then through all these things, I just kind of, kind of got more comfortable with the situation that I'm in with Lucas and our family. And I would talk to people about it. And the more I talked to people about it, the more people are like, oh my gosh, I can't believe you're talking about this. This is great. And I'm like, well, do most people not talk about it? And so then I started talking to more dads about it too. And being a dad is the honor for so many folks.

[00:22:23] Being a rare disease dad is one of these things where it's hard because you don't know what to do. And I still don't. I still don't know what to do half the time. But a lot of the times, like just as our wives know, or most people want to be heard or, you know, listen to. A rare disease dad just sometimes just needs to be checked in with each other. Like, hey, how are you doing as a dad? Anything you need? Because a lot of the times we just white knuckle it and get through it. So my recommendations to rare disease dads is, you know, find your people and lean in on them.

[00:22:53] You know, whether it's a friend that you've known since grade school, whether it's another rare disease parent or rare disease dad is kind of build those relationships with them. Be vulnerable. You know, by the way, my DMs are open. You can find me on at Legacy.E31 on Instagram or on Twitter and reach out. Like, I would love to be kind of a resource just to chat. And I need it as much as you might need it. But I think understanding that our job isn't to always fix our kids. Our kids want to connect with us.

[00:23:22] And making sure I carve out the time to do that with Lucas and with Jack is super important. Thank you for that. That was so beautiful and generous. I'm super impressed, too, right? Like by the patches and the healing that you put on yourself on top of it all, right? Like getting sober, finding your way back to your faith. Those are huge things to accomplish and to do on top of being a dad, being a spouse, having rare disease come into your world.

[00:23:50] Those are not small feats. And I'm sure the more that you sort of look inward, the stronger that you can be, right, as a leader, as a dad, and as someone to look toward in the rare disease community. And hopefully we can keep you famous, you know, as long as possible. Because I think you're a really bright light. And I think that you're going to help a lot of dads out there for sure. Well, I mean, if I can, that'd be awesome.

[00:24:14] You know, I'd love to be kind of a source of hope or just, you know, just to give the courage to another dad to kind of go, screw it, I'm going to try something. You know, again, like you never know what's going to happen. But you certainly know what's going to happen if you don't take the chance or if you don't take the first step. Nothing's going to change. But yeah, it's I firmly believe that rare disease children, you know, or at least I'll speak for my son. I firmly believe Lucas chose, his soul chose this body.

[00:24:41] And because he looks at me and he kind of looks at me with his eyes and goes, dad, you know, I'm okay without saying any words. And I firmly believe that he is here to teach other people lessons, especially mom and dad. And it's like if he came in and he chose this life with this condition that's very unique and very rare, it's incumbent upon me to figure out what he's here to teach me. And he's taught me so much. And I know he's taught my wife so much. And so my ultimate, if he's given me so much, I need to give back to him and kids like him.

[00:25:11] So it's like I'm just scratching the surface on giving back to him of what he's given to me. And I think that that's what drives me. And it's helped me kind of navigate and traverse this kind of unique, you know, fatherhood that I that I've kind of stumbled into. But in retrospect, if I'm being completely honest with myself, it's an absolute blessing. Like I wouldn't have it any other way. I'm just trying to embrace what is. But also, can we leave a different legacy for kids like him? By trying to find treatments.

[00:25:37] So parents like us are kind of an afterthought, you know, five, ten years from now because there is newborn screening. And then there is a treatment that can be applied at birth. Straight to my soul, Jeff. I agree with everything you just said. And I know a lot of people completely have the same sentiment with their kids and what they teach us. I do have a question about how the boys are doing together. How's the sibling doing? I know that's a whole other episode and it can be very complicado, but also, again, very beautiful. So anyways, how's he doing? Yeah.

[00:26:07] Older brother is awesome. Their relationship is getting better. You know, so I'm blessed to live right next door to my sister-in-law. And they have two boys. You know, on paper, we had this beautiful thing. We would have had a senior, a junior, a sophomore, and a freshman in high school at the same time. They could have been best friends. So Jack, my older, gets the benefit of having kind of essentially two brothers that are cousins and then Lucas. And still trying to figure out how to play with Lucas.

[00:26:34] But he's trying, you know, and he's working on it. And, you know, and I think that's the ultimate challenge is, you know, like we need to make sure that we give him attention and that we're doing all weekend. So, like, I coach his baseball team. And, you know, we make sure that we say prayers every night and tuck them in. But at the same time, I try to encourage him to connect more with Lucas is something that is easier said than done. Even last night, it was just neat seeing them do puzzles together.

[00:27:02] I'm like, oh, my gosh, this is he's trying, which is really, really sweet. Yeah, I'm glad you have those cousins nearby. That's life changing for him, I'm sure. And just as parents, being able to, like, witness it. It's an absolute godsend, I know. And if there's like if there's anything, any other kind of rare disease parents, you know, I think having the support system nearby, especially for siblings. Like, again, I think with Lucas, we would be okay because usually it's mom and dad.

[00:27:27] And he's got we have some help to that caretaker who assist to for the siblings. It's just so nice for them to have another outlet like Jack just gets the best of all worlds. How did you go about getting your genetic test for Lucas just in case there are undiagnosed families listening that haven't reached that point yet of recognizing certain symptoms? Yeah. So he was eight months old. We started realizing he's missing milestones. You know, we had some people say he's just delayed. Give it time. Other people like, hey, we think something's wrong.

[00:27:56] And our diagnosis odyssey was, you know, 18 to 20 months. We thought he might have been deaf. We thought maybe he couldn't see well. We didn't know what it was. And eventually he got diagnosed through an MRS. That was when we got the genetic testing to really figure out what it was. And the crazy thing with his condition, you can almost directionally diagnose it with a simple blood or urine test. But no one really does a creatine screen.

[00:28:23] And once we got the genetic testing, you know, we got to see his specific mutation, you know. And then we obviously did kind of the fibroblast with Coriel to like really allow scientists to really look at his specific mutation. But yeah, if there are other parents who are kind of, you know, something seems different. And especially if you have symptoms of that are akin to creatine transport deficiency.

[00:28:47] So development delayed, cognitively delayed, perhaps epileptic and hypotonal and some behavior challenges. You know, you can just ask your pediatrician, can you do a urine screen for creatine? And again, they won't totally diagnose it, but directionally you'd be able to go, okay, something's off with the creatine and creatinine. Let's do another test. I'm probably going to loop that right up at the beginning because it's one of those things I think that can definitely be overlooked for a little too long.

[00:29:11] Well, the crazy thing is, studies have shown that like right now there's under 400 CTD kids diagnosed in the world, but they think it's underdiagnosed by a hundred fold. Just because so many people get to the six month mark, the 12 month or 24, we don't know what it is, but it's something. The more you're diagnosed, like the more you can, like, even though there's not a medical FDA approved treatment, parents deserve to know.

[00:29:36] And also parents deserve to be able to invest into physical therapy, occupational therapy, speech therapy. There is supplementation that has anecdotal evidence that it assists a little bit. That is one of my biggest wishes from kind of the beast games in this platform is to help parents who have a child with CTD, but have not yet received a diagnosis to get a diagnosis and then ultimately get the support and care they need. Amen. Is there anything that I didn't ask you, Jeff, that I should have?

[00:30:04] No, but I mean, I think I would love, like, again, beast games was an amazing experience. The ruck for rare was just an awesome way for me to allow people to kind of share. And, you know, if you want to check out some of my podcasts or my videos, you can go to Legacy 831 Official on YouTube or Legacy.831 on Instagram. And, you know, if you're a rare disease dad out there or even a mom, like, please message me. Happy to be a resource. Happy to chat.

[00:30:30] It was rare disease parents who helped me when I first got my diagnosis. I remember someone DM'd me on Twitter. Her name is Laura. And she made me feel immediately that I wasn't alone, introduced me to the association that was doing most of the work. And then I have a couple dads that I talk to on the regular. And we're just there for each other. Because, again, this is a unique life that we live. It doesn't mean it has to suck. You know, it doesn't mean it always has to be kind of a burden. And don't get me wrong. There's going to be days where it does. But that's life in general.

[00:30:59] But it's nice to have another parent or another dad that we can chat with who's experiencing the same things we are and also find the beauty in it at the same time. Well, Jeffrey, thank you so much for being my guest. And thank you so much for just being so down to earth and for sharing your story with us and with the world. As a rare disease parent, thank you so much for all of the awareness that you've just splattered all over the world. And thank you to Mr. Beast for that opportunity, too. And congratulations on your Ruck for Rare.

[00:31:29] I can't wait to see more of those and hopefully so many other orcs picking that idea up. I know I've been wanting to do something like that since, you know, the dudes biked across America. So I love that idea and that resilience. So really just great job. I'm so glad to know about you and to know that you're here helping to fight for all of our families. And I'll have all of your links that you just mentioned in the show notes for the listeners, too, so they can just easily go there and click to follow you. Awesome. Well, Effie, thanks so much. I've been following you for years.

[00:31:57] So when I saw this pop up, I got really excited. So thank you for all the work you do. Hopefully this isn't the last time we chat. And then maybe we can do something in the sounds in Seattle, a cool little rock up there. That'd be fun. Totally. Okay. Actually, I'm going to stick you on that one. We're going to do that. That'll be fun. Okay. I hope you've been enjoying this podcast. If you like what you hear, please share this show with your people. And please make sure to rate and review it on iTunes or wherever you get your podcasts.

[00:32:25] You can also head over to Instagram, Facebook, and Twitter to connect with me and stay updated on the show. If you're interested in sharing your story or if you have anything you would like to contribute, please submit it to my website at effieparks.com. Thank you so much for listening to the show and for supporting me along the way. I appreciate you all so much. I don't know what kind of day you're having, but if you need a little pick me up, Ford's got you.