Episode 1: Meet Your Host, Eric

In the debut episode of Roadmap to Rare, host Eric Finn introduces himself and the mission of the show. Roadmap to Rare aims to shed light on the reality of navigating the rare disease journey through real stories, real challenges, and research. Eric shares his personal story of how his family discovered that his son had Okur-Chung Neurodevelopmental Syndrome (OCNDS), an ultra-rare genetic condition affecting approximately 400 people worldwide. 

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About the Host:

Eric Finn is from Gillette, Wyoming and is a father, advocate, and an Early Interventionist at the Children’s Developmental Center of Campbell County and a wrestling and football coach for the Campbell County School District. Eric’s son was diagnosed with OCNDS a month before his third birthday. 

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Transcript

Speaker 0:04

Hello, welcome to episode one of Roadmap to Rare. My name is Eric Finn. I'll be your host, and while we're here, we'll talk about the reality of rare disease journeys, sharing hope through real stories, real challenges, and research. Being episode one, this episode, I'm going to take the time to kind of introduce myself, talk a little bit more about my family and our experiences and our journey through finding out our son has Okur chung neurodevelopmental syndrome. He's one of about 400 people in the world that have been diagnosed with this ultra-rare disease. I will say I'm not a huge fan of using the word disease in this kind of a sense, just because I feel like disease is more of a you can wash your hands and get rid of a disease where our son has a mutate genetic mutation that we can't quite just wash our hands and kind of be done with it. It's something that he'll live with the rest of his life. Um he'll have to go through different therapies, which he's already in quite a bit. And I'll talk a little bit more of that as we go down the road. So I guess my journey started moving out to Wyoming. I live in Wyoming now. I'm from Ohio originally, and uh dating my wife at the time, and we're like, well, we're a little bit older. Let's go ahead and think about our family. And uh we we thought about it. We ended up having my wife got pregnant, and we ended up having our son Ronin, uh, who just turned six, boy, April 3rd of this year. So it's been a few years of him uh and this whole journey that we know so far. And about nine months into him just growing and being a little dude that we know, and this goofy little guy that didn't quite start to crawl yet, just like the army crawl. He was a fast army crawler, just basically kind of moving his arms, kind of moving his one leg, and we thought, well, that doesn't seem like you should be there. It seemed like you should be farther along in his development. But we had an idea, and my wife had the the you know, the mother's intuition, that gut feeling of there's just something not right. And we end up having a friend that has another ultra-rare disease, and my wife was really good friends with her, and she ended up talking to her a little bit, and as she was talking through, just told her to say, Hey, you know what? If you if that's what you feel like in your gut, then why don't you follow that? So we ended up going to Billings. Denver's about five hours, Billings about three hours. Uh, so we went to Billings, got the genetic testing done, met with the doctors, they went through their process, and we're like, well, yeah, I think he's got a delay. And the genetic first round of genetic testing came through, and he doesn't have anything that matches any of what we're looking for on this uh screening. So we're like, well, let's go the second round of genetic testing. And so we did. It took a little bit. Uh we kept having them say, well, you know, there's costs involved with it. We might not find anything. We normally don't find anything in the second round of genetic testing. And took my wife pushing back and pushing back and pushing back, and finally, yeah, we're gonna pay for it. You're not gonna have to pay for it. You know, we want to know just because we feel more peace of mind knowing we did everything we could to know more about our son and maybe what he might have. And so finally they did it, and my wife got the call. I forget how long it was afterwards, about oh, yeah, we we got the second round of genetic testing back, and he does have a uh genetic disease uh called Okur Chung Neurodevelopmental Syndrome. So it was a big day of my wife kind of then letting me know. Uh, I can't remember if it's a phone call or a text, uh, and us kind of figuring out what that means. And uh one thing about my wife that always helps is she's a she's a very deep diver of everything. Like, oh, we've got something new. I'm gonna find out anything I can about this. So she ended up doing some some Googles, Google researches and asking some of her friends, and ended up being able to read as much as we could about what we knew at the time uh with the syndrome. And I want to say when he first was diagnosed, there was only about 150 in the world that were diagnosed and went through the whole process, and we ended up, of course, this day and age, do the Google search, you read it, and you're like, Well, I wonder if there's something on Facebook about it. So just did a quick, you know, OCNDS or Okur chung neurodevelopmental syndrome search in Facebook, and ended up finding, finding uh the uh Facebook groups. There were two Facebook groups that we found. One of them was we found out later was the family. If you have a family member that you can learn more about Okur chung and everything else that's going on in that that realm and how you can better know how you can help those families, those kind of things. And then there's another one that's a uh specifically for those parents that have a child with Okur chung neurodevelopmental syndrome, and the foundation that backs it also helps to run that Facebook page, and it was closed. And so we we requested to be added to the group, and it's kind of funny on our side. We always like to re listen true crime podcasts, and uh we just finished one about this lady who had infiltrated some uh cancer Facebook pages and ended up finding out she didn't have cancer, so it was kind of nice to see that this group had kind of some locks on it, and then they also were able to vet those people because when we requested to join, we got a message back saying, Oh, you you have somebody diagnosed with it. Great. Uh, can we see the report that you got from the doctors? And we're like, well, that's it's interesting. Um, the nice thing is with this syndrome, the people that discovered it are still alive and practicing. So they actually were able to send off the report to those doctors. They looked over it and said, Yep, there it is. We see it in there. So they do definitely have OCNDS. So we got led into the group, and yeah, uh, my wife teaches English at our local community college. So she was like, Well, I want to try to get the word out. So we ended up getting some press through the newspaper and uh had a story written about him and our our journey up into that point. They got some really nice uh pictures on the front page, and he was a COVID baby, so that was another part of the story was our journey through COVID and you know, getting birth, that whole process. But at the same time, hey, he also has an ultra-rare uh disease in a in the smallest state in the United States, population-wise. Um, and it got a lot of traction, which was really great. And then my wife got approached to be part of the parental advisory board and be an active part of OCNDS and the foundation that helps to support the research and um discoveries, things that are going on, being able to connect all those families, either in the United States or abroad, all around the world, connecting those families to share their stories, to share what's going on right now. You know, our son's only six, but there's other kids that are 20, there's other kids that are 10. And being able to say, hey, this is what we saw when they were that age, and being able to share those experiences has really helped us better understand where our son can go, uh, you know, where he can develop. Now, again, like I said before, there's there's different variations of what happens to the specific gene that leads to having OCNDS. Our son has a mutation of the gene, and because it's a mutation, he has some of his characteristics that you can see. He's got low muscle tone, so the hypotrophy, um, low muscle tone, so that that getting to walking, to jumping, to climbing took him a lot longer with PT. We ended up getting contacting our local children's developmental center, and we were able to get in touch with the Part C program, which is those kids that have birthed to three families with children that have a developmental delay. And through that, we were able to get speech therapy to help him, you know, help us understand how to better work with our son to be able to like just oh, we read to him. Yeah, we're we're we're both college-educated parents. We read to him, we have books, he likes to listen to us read. And they're like, well, there's a little bit more to it than that. So better understanding of how to help him through speech, occupational therapy, you know, working with you know, the finier things like stringing beads, working with crayons, eating, that kind of stuff, and then physical therapy to help with walking, climbing, jumping, those kind of things, which he's still working on some of them, which he's going to for a while, but he's definitely blossomed into who he is today. So we also get speech therapy at two different places outside of the preschool that he's at now, and we do equine therapy. So the the riding of the horse helps to kind of stabilize those core muscles and help him work more on body awareness and how to manipulate himself and to be able to stay steady. And they've even done a great job of introducing the speech therapy part to it, too. Him saying the commands to the horse, or as he's going around on the horse, they'd be like, Oh, where's the snake? And he'd try to find the snake. So being able to do those two things at once have really helped him grow. So we're able to find all those services, which actually kind of brings me into where I'm working now. I actually work for the same children developmental center that we had our son uh evaluated through. We went on services with until he turned three, and then now he's at the same preschool that I work in the same building, but not in the same program as him. So I get to see him every day and talk to his his uh special uh special education teacher and his regular education teacher are able to be like, oh my gosh, today was a great day. He ended up ruining like played with four or five kids back and forth, and they were able to play imaginative play, or he shared his dinosaurs with another kid, which is a huge deal, uh, being an only child and everything else. And uh it's really cute. His special ed teacher would come in one day and he was like, I just want you to know, he spent 15 minutes in my lap playing with other things and other kids, and it was the highlight of my year so far. So um, those kind of stories are really great to hear from the the people that work with your child. Granted, here is only about three hours, but he gets so much out of it, they get so much out of it, it's really great to hear. So we're in the foundation through the uh professional advisory board and able to connect with a lot of other people. It's it's it's great to have that kind of a foundation to build off of, really, to use the same word. Um, because our friends that have a child with another ultra-rare disease, uh, they don't have a foundation that supports their specific disease as well as ours. And it's it's interesting to hear the back and forth. You're like, oh my gosh, we I wish we had that, or oh man, that's really great. So to know how well we have it is really nice to see, but also being able to share our stories through things like our podcast. Uh, we had a group of five of us, including myself, that went to DC and advocated for children with rare diseases to our uh representatives, to our senators in DC, and let them know a little bit more about you know the people who live in their state and what we go through every day and how they can help us. So being able to get our message out there and being able to hopefully impact more kids through our advocacy is what we're really here for, to be able to kind of lessen the burden on just one family and be like, oh man, I listened, and that's exactly what's going on with me. So I don't feel like I'm alone in this capacity with my own kids. So where I'd like to take a lot of this is for those families to understand that there are people out there going through the exact same thing you are. I would personally like to help make those pushes for genetic testing easier for families. I feel a lot of them uh feel like the money's gonna be too much, or I don't know, or what's it gonna do, what's it gonna take to help lessen that burden on the families, and also to help with anything those people have that are questions that they might just not know where to answer them. So so one last thing before I conclude and we move on to talking a little bit about our next few episodes, is that the day that everything kind of changed for our family, and how I don't feel like it was a huge change, it was a mindset really of oh, oh wow, okay, our son has a ultra-rare um genetic disorder that it happened, we didn't give him that you know, didn't live in any of our DNA either of our DNA. What happened happened, and we as parents can change our view of their world, you know, the child's view world, and how we can help to impact them having the best possible opportunities as best we possibly can. It took a little bit to be like, oh, okay, yeah, our son does have these different characteristics, the low muscle tone, the s the um slower to walk, to crawl, the lack of uh speech, or you know, the layer to speak. And you know, there are others that have epilepsy that might have more severe characteristics of the emotion ds. We were lucky enough that our sons that doesn't have epilepsy is able to sleep really well, so you know, kind of understanding where he's at, where he needs to be, and how we can help get him to that next step uh the best way possible. So I think a lot of it changes kind of in your mindset and how you approach those different situations and listening to those professionals like the speech language pathologist, like the occupational therapists of okay, this is what we're doing. Okay, and don't feel don't feel bad to ask why. I feel like that's where a lot of my mindset comes from is okay, all right, I see what you're doing, but why are we doing it this way? Helps to better understand, oh, well, all they really wanted to do is have him interact with their with the parent. Like, oh, they're gonna roll the ball. Oh, well, can we do with other things? Yeah, our goal is just to have them interact with you. So you can use anything after that. It doesn't have to be just the red ball that we brought today, it can be anything, or oh, when you're helping them to understand what they can say to help you as a parent, you can say, Oh, I heard you say this. Or, you know, one of the biggest ones was give him the words that you want him to say. And if he says those, that's what you're gonna do and stick to that. So changing your set, changing your mindset to, oh, do you want me to carry you? And so they they'll usually come back with carry you. Well, okay, we don't have them to use you. And so when you ask them, oh, do you want me to carry you? And they nod, oh, then you can say, carry me, and just slowing yourself down and giving yourself grace to, okay, I want to give him the words. I don't want to test him. Oh, what's this? Is that a pencil? It's a pencil, you know. Oh, what's that? What's that? What's that? What's that? We did that to you as adults, you probably want to punch the person that did that. Um, so instead of questioning them, just give them the words of what it is and let them have time to process and let them have their own time to be able to come to terms with, okay, now I can say that. And if it's a low pressure situation where you're not always demanding them say whatever word it is, then it definitely helps cutting down the anxiety from the child's point of view, and it just helps to create that fostering, loving relationship that on their side instead of, oh my, if I go to dad or if I go to mom, it's only going to be questions and they're not going to give me what I want. You know, and a lot of the people that uh I've worked with and I live with in other capacities are really great parents, which is awesome. They know exactly what's wrong, what they can do, and they just end up doing it because it's just quicker and easier. But giving those kids, those those children the opportunity to use their words or at least give them the words, and then allowing them to come, maybe it takes them a minute or two, maybe it takes them some processing time to say it, can help and give dividends back as you guys go forward in your your your journey. Um, so like I said, that was kind of our day that our our life kind of changed. And as we go forward with our other episodes, um, we'll have some other parents like myself come in and talk and uh take some time and talk about their journeys, what they've seen, and also we'll we're lucky enough to have um a few doctors come in and talk about their research specifically for ochre chung neurodevelopmental syndrome and where they're seeing trends and where they're able to use some of their research to talk to us as parents and as a community a little bit better about what they're seeing on their side and how it relates to those parents that are going through the same journeys, maybe within OCNDS or in other areas too. So that being said, thank you for listening today on episode one on roadmap to rare. Check back in two weeks for our next episode. And like always, don't forget to like, subscribe, and listen to and share whenever you listen to your podcasts.