The Roadmap to Rare
This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research. This is our rare disease roadmap.
Every rare disease journey is different, but no family should have to navigate it alone.
On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between.
Together, these conversations shine a light on the experiences that unite the rare disease community: resilience, determination, and hope for the future.
The Roadmap to Rare
Episode 6: Going the Distance for OCNDS Awareness ft. Kevin Pilgrim
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In Episode 6 of Roadmap to Rare, host Eric Finn is joined by Kevin Pilgrim, an OCNDS parent from the UK. Kevin’s son, Hunter, was diagnosed with OCNDS in 2021. Kevin shares his family’s road to a diagnosis, the relief of finding the CSNK2A1 Foundation and its community of parents, and how he turns endurance challenges into fundraising efforts that raise awareness for OCNDS. He also reflects on what he’s learned along the way about supporting Hunter’s younger brother, celebrating small wins, and staying hopeful.
Kevin's next fundraiser, running 5K every hour for 48 hours will be from September 11–13, 2026.
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Links & Resources
Kevin's fundraiser: https://www.justgiving.com/page/5k-everyhour-48hours?u
News articles: https://www.essexlive.news/news/essex-news/boy-with-rare-genetic-condition-7698722
https://metro.co.uk/2022/10/09/essex-boy-diagnosed-with-rare-condition-doctor-had-never-heard-of-17501506/
Reflections on cycling 500K to raise awareness for OCNDS: https://www.csnk2a1foundation.org/i-am-no-lance-armstrong-cycling-500km-non-stop-to-raise-money-and-awareness-for-ocnds
Hello everybody and thank you for joining this episode of Roadmap to Rare, our podcast where we discuss the rare disease journey through real stories, real challenges, and research. I'm your host, Eric Finn, and today we're joined by Kevin Pilgrim, a fellow OCNDS parent from the UK, who started raising money and awareness for the community through some pretty remarkable endurance challenges. On today's episode, we're going to talk more about his experience as a parent, an advocate, and what motivates his fundraising efforts. So welcome, Kevin. Could you start off by introducing yourself?
SpeakerYeah, thanks. Thanks, Eric. As you said, my name's Kevin. I live with my fiance and our two boys, Hunter and Holden. We live in Chelmsford in Essex, about 20, 25 miles outside of London. Hunter, our eldest, is now 10, and he was diagnosed with OCNDS back in 2021.
Speaker 2Great. Well, uh, let's kind of start from the beginning. Uh can you tell us what uh a little bit about Hunter and then what road to an OCNDS diagnosis was like for you guys?
SpeakerYeah, sure. So um yeah, we didn't have the most straightforward start with Hunter. Um and we can actually go back to probably the 20-week prenatal scan. That was uh our first sort of maybe hiccup if you like. Um yeah, is when went in for the scan um and uh the sonographer um basically picked up uh pericardial effusion, which is uh a fluid around the heart. Which uh when it was explained to us, the sonographer was um literally like I've been doing this eight years and I've never seen this before. So that was a big sort of like, oh okay. Um and um so obviously like Nic was was you know getting quite upset. It's not what you want to hear, you just want to hear that everything's fine and all the rest of it. And then the made they made a referral there and then, and then the um the woman making the referral was like, Oh, try not to get too upset, you know. Um they can do amazing things now, they might be able to fix him, and we're like, fix him, like it was fluid, and now he's broken, like um so yeah, that was a bit sort of kind of traumatic. Um we then uh went to the referral uh a couple of weeks later, had an amazing Spanish uh sonographer, and the lady was just like, There is nothing wrong with this baby, it's a beautiful baby. And we was like, Okay, cool, we're back on track.
Speaker 2So we're where we want to be.
SpeakerNow we will. Um so pregnancy progressed uh sort of as normal from there on in. Um got to around about the due date, and Nic went into labor on the Friday. Um, so bags were already packed, in the car, up to the hospital, get to the hospital, they were like, Yeah, you know, you are in labor, but very early, you're probably better off going back home, weighing it out as things progress, come back in. Okay, cool. Fairly standard. Um so Nic was kind of like in and out of labor over the weekend, Monday morning. Um Nic's like, nope, now I'm in Labour. Like, now's go time, and now we're going. Okay, right. So back in the car, back up to the hospital. Uh on road to the hospital. Uh I don't know what you call them in the States, like we'd call it a dual carriageway, so it's like a road with two lanes and then two lanes going the other direction. Sure.
Speaker 2Yeah, yeah.
SpeakerAnd um, so heading down there and basically got hit by a 18-ton lorry that just came into the side of us. He just changed lanes, didn't see, um, hit us, uh, spun us onto the opposite side of the road where the traffic was then going in the other direction, which then just made full impact with the side where Nic was. So Nic just took the full brunt of the the collision and managed to get Nic out of the car, um, sat down on the curb side, um, and I kind of sort of looked at her sort of with those eyes as to sort of like, okay, so like where are we? Um and uh she just looked at me and just shook her head and just all the contractions had stopped. Um, she couldn't feel the baby move, that just everything had just stopped. Um so we were like, oh right, okay. Um and like at that time, I mean, I remember uh back in my my twenties, I did six years as a Royal Marines commando. So I did like a a combat tour in Afghanistan. I've been involved in suicide bombings, countless firefights, and I've always prided myself on remaining pretty calm and composed. And this time I just I I'd lost it. I didn't know where we were. People asked me like what street are we on. It's a it's a route I drive down all and my mind just went blank and just my whole world just sort of fell apart. Um about 20 minutes later, the ambulance finally got there, for his way through the traffic. Um the paramedic um obviously got the stethoscope out, checked, and they were like, nope, we've got a heartbeat, got baby's heartbeat, like you know, sounds good, so let's get you off to the hospital. So get to hospital, um, they take Nic straight into A &E first to check her over. Um and she'd sort of busted her ribs, really severe bruising all from the seatbelt. Um, but they sort of said, yep, no, sort of mum looks you know okay to to sort of carry on. So finally get up to the uh the the sort of birth ward, labour ward, and um Nic tries to um sort of go through the the labour sort of naturally um and it just didn't progress. So eventually after about 12 hours, um the they sort of call time and we're like no emergency cesarean. Um and so then Hunter was delivered by C-section. Um and yeah, from there uh we went back down onto the ward once we come out of surgery, um, and they basically kicked me out because it was past is it now? So I had like 10 minutes, 10 minutes with Hunter, and then uh and then I had to leave and leave Nic in in the hospital, which I think sort of looking back now. I think I wish I'd have been a bit more uh stood up for myself or at least stood up for us and just sort of gone not like I stand on that chair tonight and not you've been through enough already that day to finally be like, oh yeah, okay, I'll go home. Yeah. Yeah, and and you just sort of sometimes you just sort of do as you're told, and you're just sort of going to autopilot. Um so went home, then like didn't really sleep, obviously. Um got back to the hospital the next day as soon as I could. Um and the news was that uh Hunter was quite poorly. Um turns out Nic had uh strep B. Um and that's sort of been passed on to Hunter. Um and they basically said they don't know what is the cause, it is either uh sepsis, meningitis, or pneumonia. Um they tried taking a lumbar puncture, but they couldn't get a lumbar puncture. So they basically just went, irrelevant, we're gonna treat, you know, the treatment's kind of the same from what I could gathered. So that was just sort of antibiotics. So we stayed in hospital for a week. Um and I kind of remember um every day you used to take Hunter down to have his antibiotics. It was in a a different uh a different um building. So I'd walk him down through the corridors and uh started talking to a guy there whose uh little girl was uh she was four pounds and they'd been in hospital for weeks already. She was born just over a pound. And I remember him sort of telling me his story um and how you know they countless times they didn't think his his girl were gonna make it through the night. And I just remember thinking like right, like I was feeling a bit sorry for myself, I think, for for for the last what had been going on for the last three days, and like uh this like and then listen to his story, and that guy would swap places with me in a second, you know, um what he's going through. So that kind of sort of shook us out of sort of feeling sorry for ourselves and sort of got us a bit back on track. Um so eventually, after about a week or so, um got Hunter home and we weren't home for very long. Um, back up to the doctors, back to the hospital, just countless infections, just just kept getting ill. Um and then eventually uh he kept getting urine infections, so they did a kidney scan, and that's when they found out he had uh MCDK, which uh is one kidney. Basically, it just means he's got one kidney.
Speaker 2Oh my goodness.
SpeakerLike one functioning kidney or only one? One kidney one functioning kidney and the other uh has basically uh after sort of monitoring over the years, has basically kind of shrunk and shriveled up and have kind of bodies just kind of dissolved it. Which shouldn't be too much of a problem for him because you can you know function quite happily on one kidney. Uh we had all of that. Um and after that things kind of settled down for a few months, you know. We sort of thought, okay, we're sort of like back on track. Um and then we sort of started to notice just the missing of milestones, just crawling words. Um uh and I think this probably resonates with a lot of people. I think like Nic saw it first, just that mother's intuition was just like something's not right.
Speaker 2Dad's oh he'll grow out of it, he'll be fine. I did the same thing.
SpeakerAnd you you know what? There's a there's a show in the UK called, I'm sure it's called um There She Goes. And it's a it's it's a mini-series about um a girl um with a genetic syndrome, I forget the name of it. But when we watched that, it just resonated so much because it it was just like watching our lives and just like just missing the milestones and everybody else telling you, no, all the kids, they all progress differently, and and things like this, while Nic was just screaming like something's not right and nobody believes me. Um so eventually as Hun sort of started to get bit older and it was sort of becoming more and more apparent that these milestones, it wasn't just missing them, he was you know, really missing them. Um we got transferred to the community pediatrician who started the first round of genetic testing.
Speaker 2Um about how old was Hunter?
SpeakerI want to say when we first started maybe three or four. Um Sure.
Speaker 2Yeah, kinda I you don't they tell you not to compare, but you're like, well, that three-year-old's kind of walking and that one's talking a little bit.
SpeakerAnd Yeah, like while other kids were by the age that that most kids were running around, toddling around, Hunter was still barely, barely crawling. He used to do this uh funny thing where he'd he'd crawl but not use his legs. So he'd just like pull himself along. Like some of the things.
Speaker 1You can't like elbow to knee and crawl like upright. So he'd sort of like pull himself along. Um crawl. Yeah, yeah.
SpeakerUm so yeah, it it just became like uh too noticeable to miss um that he was he was falling behind. Um so yeah, the community pediatrician started off the first round of genetic tests, and that was things like fragile X and and things like that. They all came back negative. Um they then did a second round which picked up a variance of unknown significance on the hive P2 gene. Um which at the time was like it it was it's unknown significance, like if the geneticist was like, nah, could be. It's different, but we don't know what's gonna what it's gonna do.
Speaker 1Exactly, exactly that.
SpeakerUm and so they were then gonna um they were gonna call it a day with the genetic test in. Um and then Nic was like, well, like, is that it? Is there any other genetic tests? They were like, well, the only other genetic test is a uh whole genome sequencing. Um and they were like, but you know, it's kind of hard to justify doing it, it's expensive, you know. Um and I think Nic just sort of went full mama bear and was like, Well, if there's another test, like we want the other test.
Speaker 2Yeah, we want to know all about our childhood.
SpeakerExactly, exactly. Um and so went got the next round, um, and by this stage Hunter was five. Uh, and then got a phone call one day, um, and they were like, yeah, we've found the the sort of cause of Hunter's difficulties, um, and it's OCNDS. And I, you know, the geneticist was like, I can't really tell you much about it. There's a there's a paper, there's a Facebook group, off you go. Um yeah, so yeah, though so that was kind of a long-winded story of how we got to to Hunter's diagnosis. Um really.
Speaker 2So that was about what year did you guys find out?
Speaker2021. Yeah, yeah. And I think at the time Hunter was uh I think there was around about 200 uh individuals that being diagnosed at that time.
Speaker 2Sure, yeah across the world, which across the world is insane to think about.
unknownYeah.
Speaker 2Um when you kind of finally heard the word OCNDS or CSNK2A1, um, how did you guys feel about I mean you already had gone through and maybe other therapies. I know it's a little different over uh in England with like occupational therapy, physical therapy, we're compared to here in the United States.
SpeakerBut yeah.
Speaker 2How did it feel? Like what how do you guys feel?
SpeakerI guess like to be honest, quite indifferent because when we initially got the diagnosis, it wasn't like Down syndrome where you can go like, oh okay, I know what Down syndrome is, I know what the prognosis is, I know, you know, I know about Down syndrome. But we were like, okay, great. So like we we've got one answer and we now have a hundred questions, you know.
Speaker 1So and what yeah.
SpeakerUm so like like you said, like panic reading, getting as much information as we possibly could, um and just trying to figure out what the prognosis is was likely to be. And as you know, and as we know now, like uh our children are so so different, it's kind of hard to gauge, you know, one child's life's gonna be very different to another child's. So like now we're just take it one day at a time. Um and but at least now we have like a better understanding of of what hunters' needs are gonna be. But the one of one of the biggest things was like finding the CSNK2A1 foundation. That was like huge for us, like a godsend. Um just to know like there was other parents there and um yeah, just yeah, like we'd have been really like in the dark without that.
Speaker 2Sure. I I feel like they're so active that it's really nice to have active parents that are like, yeah, okay, I'll share what I have, or or share with us what you have.
SpeakerAnd and and I thought like um I remember going back and we were like trying to join the Facebook group and there was like it almost seemed like all these like hurdles you had to like upload. But I remember thinking like it almost had like a sense of like you were included in something. Like it was like almost like exclusive. It was like the the just like OCNDS parents here, like um they're they're vetting, which thank goodness they're vetting.
Speaker 2So I know you've you've done a lot of uh fundraising efforts, um, and not the usual like bake sale, make some cookies, make a cake, um, some really kind of incredible um a fundraising, but also to raise awareness for OCNDS. And uh you'd mentioned you had done a a tour as a Marine, was it? Yes. Yeah, yeah. Do you feel like that kind of pushed you in that direction of like I want to test myself and do other stuff?
SpeakerUm yes and no. I think I think a lot of these things don't actually require much skill. Like you've just got to be able to suffer. And I think over the years I've like I've kind of uh I've found that I'm able to do that and I've just sort of lent into that. Um I can suffer really well, so yeah, I can suffer really well, and it they don't really require that much skill. There's kind of one foot in front of the other or pedaling a bike. Um so yeah, I think it's I think that's the reason. I think like uh my baking skills definitely would not make any money. 100%.
Speaker 2I can tell you what not to do really well, but instead I can cycle for 500 kilometers.
SpeakerYeah, yeah. Um so yeah, and that's that's the first one we did back in uh 2022. Um we cycled 500 kilometers in 24 hours. Um and really that just come around I was training for a uh mountaineering expedition, and I've always had temperamental knees, shall we say. Um so went and bought like an off-the-shelf bike, like $450 like off the shelf, and was just like, yeah, I'll I'll do some cycling, that'd be good for my knees, and then slowly built up some mileage, um, and then on one of the rides, I was like, ah, I think it was like a hundred kilometer ride, and I was like, Oh, you could you could do this five times. You could do it five more times. You could do this. Um so recruited my neighbour who's he's like a real avid cyclist. Um and originally I was just like, yeah, I'm just gonna just gonna do that. And then Nic was like, well, if you're gonna do it, why don't you do it for charity? And I was like, well, yeah. And then and then it was just like an easy decision to to do it for the CSNK2A1 um foundation. So yeah, that's kind of what what led to it. And so we did that back in 2022. Um yeah, um, and yeah, this next one um we've got coming up is uh in September, 11th to the 13th. Um gonna be doing a five kilometer run every hour for 48 hours. So it's total 240 kilometers about it, so it's 150 miles, something like that. Um I'll be doing it with uh a friend Dan, he's run a load of ultramarathons and Iron Man, so he'll be he'll be good company, yeah. Yeah, um, and so yeah, we'll be trying to do sort of each five kilometre uh in in sort of like 35 minutes, 40 minutes, and then that'll give us 20 minutes to have a have a drink, go to the toilet, maybe grab a few minutes sleep and then out again for for two days.
Speaker 2So is it is it gonna be like a continuous thing or is it like five K loop?
SpeakerIt's like a side uh 5k loop um and uh we're just gonna start and stop from my house. We're gonna get like a big uh like a marquee in the front garden um and put up like a little aid station. We've got uh hopefully some local runners, some people I know from our mountaineering club, neighbors, and they're all gonna sort of come out and do one or two laps with us. Um so we should hopefully have a few people running along.
Speaker 2That's impressive. That's awesome. I mean, I I did one marathon, and I'm like, I'm never gonna do that again. Yeah. That's awesome. Uh so what do you feel the inspiration is? Kind of I I was kind of guessing maybe like, oh, the background that you had, but is there other inspirations that you have to for doing fundraisers like that?
SpeakerI guess there's almost like two sides to that. Um one is kind of just from a selfish point of view, like I just kind of enjoy doing them. Um and I'm in like a super privileged position where I am able to do these things, so for me, they're sort of it'd be crazy not to do them. Um, and if I can. Do them for a cause and it's all raise some awareness, um, then that's like even better. Um and I guess like then secondly, I kind of I just sometimes want like the boys to just think that like doing stuff is just normal, whether they're not necessarily you know running marathons or ultra marathons, but going out mountain biking, just just doing things. Um yeah, just so that then you know they might get as much enjoyment out of these things that that I do. And like with the run, I'm hoping that the the youngest, um so Hunter's brother Holden, um, he's like super super active, skateboarding, mountain biking, BMXing, like you name it. If he's got wheels, he's like he's like on it. Um yeah, and so uh he's he's like determined to come out and do one of the the 5k loops with us. Um so I think it'll be good for him as well. Like he's starting to get like an understanding of of his older brother. Um and like we're very sort of open and honest with him um and and have kind of like slowly drip fed kind of Hunter's difficulties to hold and um and it's because it it can be an awkward conversation. Um like you can't hide it, he knows you know, it's quite obvious that he's his brother has some some difficulties. Um so we just it explain them, um, we treat him very grown up. Um and like in a way, we've we've had this conversation between me and Nic, and she's often said that she doesn't want Holden to feel burdened by Hunter as they grow up, you know. Um and I said I always maintain like if we do our job right now, like he will want to help his brother, it won't be a burden to him, it will just be something he wants to do.
Speaker 2Yeah, yeah, and sometimes like like you said, you don't want to be burdened with anything, but at the same time, it's nice, it's great to be honest and like oh you notice that he has difficulties, right? And he's getting there, and you're here to help if he can. And yeah, you also have your own life too. So there's an uh an awesome photo of you at the top of a mountain holding the CSNK2A1 foundation sign. Um can you tell us about that experience and kind of the motivation from taking that photo?
SpeakerYeah, so it was a bit kind of um off the cuff, really. It was back in 2022, I think. Um and it was on a mountain called uh Peak Lenin in Kyrgyzstan. And it's uh I think it's 7,130 odd meters. It's about 23 and a half thousand feet, something like that. Um and at the time the foundation was running a campaign, and I think the tagline was like no mounting too high. Oh and so I just sort of thought, ah, yeah, that that ties in, and so printed off the foundation sign and and took it up there with me. Um and yeah, I didn't really give it a huge amount of thought, but now it's like one of my favourite pictures of me mountaineering. Like, I love that thing. Um and I I have tried to replicate it since, but I've kind of uh had a succession of really terrible weather conditions on Summits. Yeah, but that was yeah, I just thought it was quite fitting just with that tagline. I remember seeing the tagline, like, no mountain too high, and I was like, I'm literally going to a big mountain next week. Like pretty cool.
Speaker 2Um I know you kind of you had mentioned you got another fundraiser coming up on September 11th. Yes.
SpeakerUm you tell us a little bit about what what you're gonna be doing, so if people want to check it out or yeah, so um there's uh there'll be a just giving um page which hopefully you can sort of link um link to. Um but yeah, um we're just gonna be yeah, be doing the brand 5K loop around your area. Yep. Um every hour, 48 hours, as we said. Um we're hoping to get a bit of a uh a tent and a marquee up in the front garden. Um Jennifer sent us over a load of sort of merch um so we can try and sort of um yeah, just get the word out. Um and we're lucky that uh we live on a it's like a dead end road with a school at the end. So at at three o'clock on the on the first day, we're gonna have a a lot of traffic with the school pickup. So yeah, so we're we're yeah, we're hoping to get a bit of attention. Um but it is yeah, I mean, on that, it is super hard with kind of doing these things um and sort of just trying to get any kind of media attention and and things like that. Like there's so many, you know, equally valid causes out there, and everybody's buying for the same sort of little bit of media attention, um, and it is really, really hard. Um, and I've just tried not to be put off um by like not being able to sort of raise like huge amounts of money and things like that. And that's why I'd say to like anybody else who's like thinking of doing a fundraiser and is thinking, well, you know, I'm I'm I'm hardly gonna make any money or anything like that, like just don't be put off by that because like every little bit helps, like every every conversation that you have like raises some awareness. Um and if if nothing else, those like little conversations are like they're a little win in themselves, you know. So um yeah, don't don't be put off. Like it's yeah, it's what I'm saying.
Speaker 2Because we did fundraising when I was with the scouts and other nonprofits, and it was one of those like they might not give you the donation now, but you've planted the seed, or you know, I mean, not for nothing. I I think every parent thinks this way. My my son's adorable, so like, oh yeah, help my son's name's Ronin. It's like, oh, help Ronin. Like, oh, he's adorable, like, yeah, we can't now. Okay, yeah, just hold on to that, you know, and then ignore it.
Speaker 1Yeah, yeah.
Speaker 2Oh yeah, yeah, or you know, those kind of things where you kind of put the human in front of it and yeah, and do that. And I feel like key like depends on the person, but you're I know your your fundraising is kind of like that. Oh, I gotta go do this, I'm gonna do that, which is amazing, but there's not like a a schedule to it, like oh, the first annual mountain hiking or the first you know, like if you're able to do those amazing feats, go for it. But like if you can even do like uh oh gosh, where do they have like those the poker runs or you know, something like that, or just a sponsor of 5K?
SpeakerYeah, and and like I said earlier, like during that you might have a conversation with somebody, and that conversation might lead on to something else. And sometimes I think we forget that everybody else has lives outside of sort of your sphere. You know, you have an interaction, they go home and they see their their partner, the wife, their brother. Oh, I met this guy today or this girl today, and uh, they were telling me about this, and then it sort of grows from there. So yeah, I think it's it's worth talking about.
Speaker 2So uh as we kind of wrap up for a parent um whose child may be getting an OCNDS diagnosis, what's what's one thing that you would want them to know kind of from your journey and everything?
SpeakerIs hard. Like it is hard, and and some people might gloss over it, um but raising a child is hard. It just means that raising a child with additional needs just adds like another layer onto that. Um but you still get the same uh level of uh you know joy from their. I think I heard you say this before about inch stones instead of milestone. Like I love that. Like it's still yeah, but it's still just when they've hit an inch stone, it just still fills your heart with joy, the same as it would when you know their siblings or whatever reach their milestones, you know.
Speaker 2Yeah, like oh they're riding a bike, or he said our name. Like, yeah, that's amazing. That's amazing too.
SpeakerUm so yeah, it's hard, but uh it's not impossible. Um I think make sure like you've got a strong team, like a strong team's a winning team. Like, make sure you're on the same page with parenting. Like I I find that like whether you're living together, married, separated, like takes a village straight as a child, right? So I think you you know, mum and dad need to be on the same page and and sort of working as a team. Um because yeah, children are tough on relationships anyway. Um so uh yeah, um so the stronger you are, the stronger team you are, and and and the the easier your ride will be, I think.
Speaker 2Yeah, I know like with with Ronin, our son, like the consistency helps them tremendously. So like if I say something, then my wife says the same thing, or if my wife says something, I say the same thing, and like and and and sometimes we're we're exactly the same.
SpeakerAnd sometimes I'll that'll be we'll be in conflict, but we'll I'll go, okay. I might not agree in the back of my head, but I'm going, you you've led, like, cool, okay, that's what we're gonna do.
Speaker 2Well, thank you, Kevin. It's been a pleasure to talk to you.
SpeakerAnd yeah, no, thank you. Really enjoyed a conversation.
Speaker 2So uh so everybody listening, don't forget to like, comment, subscribe, and listen wherever you listen to podcasts, and a link to Kevin's fundraiser, which is happening September 11th of 26th, and links to everything else are gonna be in our show notes. So thank you for listening, and we'll see you next time.
