Episode 2: The Day Everything Changed ft. Amber Reynolds

In Episode 2 of Roadmap to Rare, host Eric Finn sits down with Amber Reynolds, a fellow OCNDS parent and advocate from Colorado, whose 14-year-old daughter, Harper, was one of the first 15 people in the world diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS). Amber shares her family’s journey from Harper’s first-week pediatric appointment to the moment they received an OCNDS diagnosis when Harper was five. Eric and Amber reflect on genetic testing, finding community, and the everyday advocacy and small victories that shape the rare disease journey.

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Transcript

Speaker 1 0:07

Hello and welcome to episode two of Roadmap to Rare. We're here to discuss real stories, real challenges, and research. In today's episode, as we continue the day that everything changed, uh, we're here to talk to Amber Reynolds, who also has a child with Okur Chung Neurodevelopmental Syndrome. Thanks, Amber.

Speaker 2 0:26

Hi, thanks for having me. I'm so excited.

Speaker 1 0:28

Yeah, it's nice to kind of catch up a little bit and talk about our stories.

Speaker 2 0:32

Yes.

Speaker 1 0:34

Um, so kind of along the lines as we go through this episode, um, we're gonna start right when you guys were uh once you've had Harper, your daughter, and that moment that you first kind of felt. I know my wife had that same moment, had a moment of like that gut feeling. I was talking about like mom gut feelings. Um, kind of tell me through uh when you had that moment, that first gut feeling with Harper, your daughter.

Speaker 2 0:59

Yeah, so well, Harper is 14 now. Um, but I will say the kind of beginning of our journey, but like kind of leading up to the gut, was I had a perfect pregnancy, perfect delivery, everything was awesome. Um, at her first week appointment, her pediatrician had told us that her head circumference was measuring in the one percentile. And I was like, well, what does that mean? And so she said it could mean that her brain was underdeveloped. I thought she was crazy. Um, I went to a new pediatrician. I was like, How dare you tell me that about my daughter?

Speaker 1 1:30

I get a second opinion. I get it.

Speaker 2 1:32

Went to a different doctor. They were like, let's kind of just watch her, you know, track her to the next couple months. She was delayed in all her milestones, you know, sitting up. She has low tone. Um so around six months, though, is when I really was like that gut feeling. Because, you know, I'm looking at my my friends who have kids in similar ages. I'm like, wow, Harper is kind of behind. Um, but I still thought she's just behind, it's nothing serious. And a nine months was the like real, like, okay, we should kind of do some testing. I think something's going on. But I felt very early on where doctors, even like my husband and like family, they're like, she's fine, she's fine, it's nothing. Um, and some doctors like it, it could be possibly nothing, but let's kind of do some genetic testing and uh MRI and let's check out her brain.

Speaker 1 2:20

So sure. I see that's about the same time period we kind of had that moment of like, well, the crawling's not there, gosh, we're reading to him a lot, he's not doing a lot of that. And you know, looking back now, like, oh yeah, he should have been probably here, here, and here, and yeah, didn't know. Um, so uh looking back at your so uh, you know, kind of yourself, uh, what would you tell a version of yourself leading up to that appointment if you could go back that the appointment that your doctor kind of said, hey, let's go check on some genetic testing.

Speaker 2 2:48

Yeah, I think it's all about like how doctors um approach it because like when her first doctor had said her brain was underdeveloped, I mean it caught me totally off guard. And I was like, What are you talking about? Then the second doctor, we had had to go through three. The second doctor at nine months told us, I think she has Down syndrome or Angelman's syndrome. I'd never I'd heard of Down syndrome, I'd never heard of Angelman syndrome at the time. And it was the way she said it, kind of like she was for sure. It was one or the other. We had done blood work and that came back negative. And so that's when I was like, I'm going to a new doctor. And it was the way that pediatrician approached it, like, you know what? Harper could totally be on her own track and she could be developing fine. Let's just see genetics and um neurology just to double check and we can cross it off the list if everything comes back fine. And I think it was his approach um to that that kind of helped, like, okay, we'll make a neurology to to cross that off the list, and we'll make genetics to cross it off the list. Yeah. Um, so I think like for me, even though I knew in my gut, I think it's the way doctors kind of approach the situation to help you feel comfortable to because it's scary. And you know, Harper's our one and only kid of like to hear that something could be possibly wrong with your child.

Speaker 1 4:01

Sure. So ours is our own, our only two. So it was one of those like, uh oh, we I mean, you guys have a little bit different being in Colorado. We're in Wyoming, so it was like, well, we can go five hours south or three hours north. You know, it's not really like uh you know uh the hour here, hour there, but it was like, okay, we'll go to Billings, it's closer, and then the first round testing, well, nothing happened, you know, like we want to do genetic testing when they had that, you know, we had the same thing. Oh, he probably he has uh autism and this and that, and very matter-of-fact. And we're like, I don't maybe, but it just didn't seem there's not there are the characteristics that you see that people are like, oh, because of this, because of this, that's like, yeah, but there's this, this, and this, and this that don't fall into that category that I'm gonna have to disagree with there, Bob, uh on what what we think, and then that's did you guys have to go through one round or two rounds of genetic testing?

Speaker 2 4:55

One, but and we did it, we did neurology MRI at 11 months old, and we also did genetics at 11 months old. But Harper wasn't diagnosed until five years old. So even though we did the genetic testing, we didn't get an answer, which was really hard. But genetics did tell us, like based on her facial features and based on like her development, that they're like, we know she has something with genetics, we just don't know what it is yet, which I didn't even understand. That I'm like, what do you mean you know, but you don't know?

Speaker 1 5:21

Uh now looking back, you're like, oh, I know I get it.

Speaker 2 5:24

Yeah, I don't understand what I'm in the rare syndrome world, but so when she's five is when we finally got the diagnosis. And at the time, Harper was the 15th in the world, so there still wasn't even too much information at the time.

Speaker 1 5:37

Yeah, I'm gonna say ours is more like uh, are you sure? You sure you won't do the second round? I mean, you don't have to, it's gonna cost you, and we might not find anything, and we might not this, we might not that, and like just the pushback, push back my wife find like, look, we're paying for it, do it. So that just let's just kind of pretend we that just happened, right? And then you wait for a little while, you get the you get those results, either emailed or mailed. Do you remember your feeling or how it felt to the first time you heard ochre chunk, or probably you're trying to read it through, like we were like, uh, I think it's Okur Chung Neurodevelopmental Syndrome. Take me through like uh what did you feel like?

Speaker 2 6:14

Well, we were actually at Harper's five-year uh genetic. Every year we went to genetics like for a follow-up appointment. And like at her two year or her three year or four years, like, still nothing. Let's take some pictures of her fingers, of her eyes. Like, you know, they would do different things. So when we went to her five-year checkup, I just thought it was another genetics checkup. And when we sat down, my husband was actually still in the parking garage trying to park his car. He had dropped us off, but they had gotten us in like quickly. You know, usually you're in the waiting room. So we were sitting in the room, and the doctor just comes right in and she's like, So we have a match. Harper has a syndrome. And I was like, Wait, what? I was just shocked, and I was almost like, Where's Brian? Because I need him to like hear all this. And um, she was like, Yep, she's the 15th in the world. She has Okur Chung neurodevelopmental syndrome. She told me about how Dr. Okur and Dr. Chung found, you know, the syndrome, and that's why the name is um I just had relief. I was like, for the five years of my daughter's life, I knew there was something going on. And you know, for the first couple years, I blamed myself. I was like, what did I do when I was pregnant? Is it because I had that turkey sandwich that one time? Is it because I worked like everything that I did in my pregnancy, I blamed myself. So to know there was a name, it was relief. Like when Harper would be at the park and she was three years old and she obviously had behavior problems, she was delayed, she stims and flaps her hands, and people are looking at her at the park. And if a mom was like, Oh, what does she have? I'm like, I don't know. It was really weird. So to finally say, Oh, my daughter has this was just the biggest relief. And then to find the community, the community, even though it was small at the time, just to talk to one other parent to say, Oh my gosh, me too, was incredible.

Speaker 1 7:59

Yeah, yeah. I was gonna say uh we were 150th, so a couple years in between, the like oh, but I can only imagine being one of the first handful almost of like oh that I feel like it's like that feeling of oh now I can call it this, but at the same time, what is that?

Speaker 2 8:15

Yeah, what does this mean? Yes, yeah, yeah.

Speaker 1 8:18

I know my my wife's a very she's an English teacher, so she's very like deep dive. Okay, something, especially something that's you know, our son. Like, I wonder so she's deep diving, looking up all that stuff, and we went back to Billings to have the person because we they I think they called us to let us know they had the the findings, and I think they might have emailed it to her, but then we went back for them to kind of talk through with a geneticist and all this stuff that the lady had. She was like, Well, I've got these printed off. I've never seen it, we've never had a kid with this before. Here's this article. My wife's like, Yep, I have that highlighted. Oh, here's this one that I found. Yep, that one too. Like, I got questions. She's the lady was like, I might have answers. I I don't know, I've never been through it, but it was it was really neat. And I know uh one of the neat things, well, I I think it's a neat thing or great thing that the the foundation does is you know, first thing we do, granted we Google everything, but then next step, Facebook. Right? Facebook, what's out there, and finding the the foundation has a Facebook page, which was great, you're right, and the the um the family and family and friends is the open one, and there's another one that's closed just for those the families, and having them like actually go, oh hey, do you have the the findings? And we're like, uh, yeah. Well, can we look at them just to make sure? Well, well, it blew my mind, like, oh yeah, we're gonna talk to Okur, uh, Dr. Okur and Dr. Chung, and like right? Yeah, they're gonna make sure, yep, that's the right one. And then they let us into the Facebook group. I thought it was a great, like, you know, two-factor authentication, right? Because anybody can say it, but it was really nice to be able to have that that you know everyone in here has done that. They've they're here because they have a child, they're not trying to scam or what you know, this day and age. But that was oh, okay. That was kind of neat.

Speaker 2 10:14

Yeah, uh, you saying, like, oh, they're alive. When I first met Dr. Okur and Dr. Chung at the very first um CSNK2A1 um conference, yeah, it was like celebrities to me. I'm like, oh my gosh, there's Dr. Okur Yeah, I do feel the same way. I mean in Colorado, the the big get together. That was kind of that was pretty cool. Like, oh yeah, we can just talk to him for a minute, like right. I don't I don't even know where to start. Yeah, I feel like they're really down to earth and like, yeah, okay. You know, this is fairly matter-of fact whenever you ask him a question, nope, this is what we've seen, this is what we want. Like, oh, okay. Yeah. But the fact they're still working on this syndrome and like researching it just means a lot. You know, they could have just said, found the syndrome, K I'll figure it out, but it's like they're still, yeah, very involved with high left.

Speaker 1 11:04

Yeah, definitely. Um, on that same kind of edge, do you remember like the first time you you actually met another family with a child that had Okur Chung?

Speaker 2 11:14

Yes. So that was our first conference, and that was a very emotional conference. Um, I met Jennifer Sills, who's our president, and her daughter Jules, who is very similar to Harper. We're like, oh my gosh, like the first time in our life meeting someone who is similar. And then we had met um Ava's family, and they were amazing. And Ava, even though she was like more verbal, Harper and her had a lot of similarities too. So just to see your child that you felt like was the one and only some similarities was just so comforting. And then to meet the parents too, and and to share stories with the parents, like, oh my gosh, my daughter does that too was incredible. It's a weekend on the second.

Speaker 1 11:53

Yeah, it it's it's kind of surreal. Like we we weren't lucky enough to to be close, I think, for that uh the most not the most recent, but the one before that um get together. So um, and just luckily enough, the the Mellingers lived in um Canada, and then all of a sudden they're like, Hey, you guys are in Wyoming. Well, my parents have a house in Beulah. Beulah's about this big of a town. So they're like, Yeah, we go there over the summer, and we're like, Yeah, it's like 45 minutes. This uh Devil's Tower. Um, the uh closing counters of the third kind. That national park is where Beulah's around. Like, oh yeah, yeah, we're like 45. But um you guys want to get together? Wow. And kind of see. So it was kind of it was really interesting, and like, oh my gosh, and being able to kind of to talk those milestones because their daughter was already older. Yeah, and so I mean, Ronin was only gosh, a couple a year or two, maybe, uh, maybe two. And like, oh, so this is my and grand different genders, all that kind of stuff, but at the same time, like the growth patterns, or what did you see? And like, oh, that feeling of like, I can say what is going on, and they're like, Oh, yeah, yeah, we did that. You know, you didn't have to go into more more details. It was like, oh yeah, we've been through that, we've been through that. And uh, it was just neat to have like other parents like we get you, we hear you.

Speaker 2 13:21

Right, yeah. Absolutely, it's the best. It is, you just feel alone.

Speaker 1 13:27

Yeah, for the longest time, like what like you had said, like, what did we do wrong? What we did, we read to him, we did this, we did that. Yeah, and then luckily here uh we were able to get into the children's development. We got a screening done on Ronin and the Children's Developmental Services, we did the screening through, we ended up getting uh home visits, which were really nice. I'm sure Colorado has something like that, but you guys were she was too old to be in the program at that point. But it was nice to like, oh, okay, all right, and had an OT, a PT, a speech lady coming out once or twice a month to to help, which is I can only imagine not getting any of that till like five, really.

Speaker 2 14:04

Right, yeah.

Speaker 1 14:08

Um so kind of that happened early. Now we're a little bit later. Um thinking in kind of the the the global area we are, if you could sit down with a parent that just received their diagnosis for their child uh this morning, what's one thing you would want them to know about the road ahead?

Speaker 2 14:31

Oh my goodness. That can be that could be kind of heavy. But I feel like my first, even though it's been a it's been a very long and hard journey, I feel like the first thing I would say to that parent is like, A, it's gonna be okay. B, that like I wouldn't change, I mean, yeah, if I could give a a treatment or cure to help her for Harper to be more like successful, I would, but the joy that I see in Harper every day is beautiful, and I wouldn't change that. So it's like trying to find the joy of you know what your child presents. And again, it is long and it is hard, but I would definitely say on the medical side, like I would put them in all those, like what you said, PT, OT, speech, like try to give them services as early as possible, connect with other parents, go to the doctors, listen to your gut because you know, but also just trying to find the joy along the journey too, because it is a hard journey and it is a long journey, but finding the joy in that journey too.

Speaker 1 15:28

Yeah, yeah. It's you know, we the I know as a community we always use like inch stones where you know other kids might have milestones, like wow, he ran around the block, he rode his bike, like, well, Ronan doesn't like to sit on a bike, he pushes them around, like yeah, but though those little things where all of a sudden uh you know they say their name for the first time, like Yeah. Oh which is way longer than other kids have, but like, yeah, you said it, you know, you know that name. Or I know we didn't we were reading uh a book right before we went to bed, and the license plate on this, it was like monster truck, they were monsters that were trucks. Um but the license plate said Eric on the front, and we were looking there, I was like, Oh, that's daddy's name, Eric. And he looked at it and he goes, Eric. I was like, Oh my gosh, yeah, I mean it was a while ago, but it was when I was like, Oh my gosh, like, honey, come here. And uh I forget, then I think my uh my wife's Miranda, and it was like, she, I think she just said, like, oh, daddy's Eric, and mommy's Miranda, and he goes, Miranda, like he didn't have it all, but like a really great attempt at it. And I was like, Wow, huh? And you know, to do that around maybe you know, parents that have kids that are neurotypical, like, yeah, he said your name, like, yeah, hey, this is we've we haven't had this before.

Speaker 2 16:53

Right. Well, like Harper, she's nonverbal, so she didn't say like mama, she can only say like five words, but she didn't say mama or dad until she was like eight. And I mean, what the first time I heard mama, I was like, because I thought I was she has a communication device and she says it on there, which still meant the world, but when her like mouth said I was like, Oh my goodness. And she just recently, the last couple years, like two years, started saying woawa, which is I love you. And I'm like, she says I love you. She says woa wa, and that's huge. And so, yeah, like celebrating those inch zones and finding the joy along the journey, yeah.

Speaker 1 17:27

Yeah, because there's a lot, a lot in between those little inch. Then you hear that, like, I and I I think like two weekends ago, I think we're we're going through a book, and or he was looking through a book, which is really cute. I mean, him looking through books instead of you know playing around, like, oh, that's cool. You like looking through them. And he was looking through one and he was listening to something on his iPad, and it was something about like uh daddy loves you, and this and that. Like it was kind of a fun one. I'm like, oh, I kind of heard it, and I was like, Oh, I love you, buddy. You know, Daddy love, I love you, and uh and then I had to go get something downstairs, and I came up and I swear I heard uh like daddy, which is normally is like daddy, you know, I want your attention. And then I swear there were like three sounds, and they're like, I love you. I'm like, I'm the only one home. I swear it's one time, but hey, and those moments of like, oh I kind of thank you, buddy, right? That feeling of ah, here we are. And I know we had we had the um good fortune to be able to go to Washington, DC and kind of learn about advocating and kind of on a higher level um for our children, but parents with kids in the rare disease community um can sometimes find that gear that we didn't know we had to be able to be the fiercest advocate for our our children. Um do you have any of those kind of moments where you can remember maybe the first time or when you were like, I'm so glad I did? Oh gosh, I and unfortunately in this world, like in this journey that we're on, I wish I could say, like, yeah, you have to advocate for your child once, and like that's it. I feel like since Harper's literally been like little, I've been advocating for her every day. Like to teachers, to community members, to I mean, to, you know, Congress. Um, it's just a nonstop battle, and I'm not gonna stop. And I just feel like, which I'm sure you're Papa Bear, but I get mama bear. Like, she is my world, and I'm gonna do everything I can to make sure she's included in this world, she's loved in this world, she's protected, she's safe. Um yeah, and unfortunately, like yeah, like I said, it's been since she was little, and like literally today, like when I get off this podcast, I'm emailing her teacher we about a situation. It just it's something that we'll continue to always have to do, which is sad. Um but yeah, that's what we're here for. We're here to be their voice and to continue to advocate for them. And I know the voice of the voiceless in that kind of situation. I remember one time we were we were going to the the park and the the sun was right in our eyes, and Ronan kind of had the kind of squint because it was looking at you know, the sun was in his eyes, and one this one little girl was like, Why are his eyes weird like that? I just remember seeing the my wife who's about seven, eight inches shorter than me, that I had to like pull by no, it's okay, honey. And then her dad was like, Oh, the sun's in his eyes. What do you mean? It's okay, it's okay. It's just a kid, but yeah.

Speaker 2 20:25

Well, Harper, she stims, so she also has autism, and so she stims, so she flaps her hands. But when she we call it her happy flap, so she flaps her hands when she's happy, and we love it. We're like, Oh, she's in a good mood. She's um, but when she's out in public, she definitely gets like lots of stares, you know, kids like you know what because and she also vocals them, so she'll go like, uh uh, uh. And she's also like uh flapping her hands at the same time. Sure. But I just try to like educate kids. I'm like, if you have any questions, you can ask me, and I'll say, like, my daughter has a rare syndrome, she's nonverbal, she can hear you, she can understand you. If you want to talk to her, she would love to have a conversation with you with her talker. So I think it's just like educating, you know, and continuing to educate. And I think for for all people, we should encourage our kids to ask questions, you know, and I think that's how they learn and they accept and include.

Speaker 1 21:13

Yeah, yeah. I think uh I don't know if you ever watched Ted Lasso.

Speaker 2 21:17

Yeah.

Speaker 1 21:17

Love Ted Lasso.

Speaker 2 21:19

Yeah.

Speaker 1 21:19

And the one uh where he's he's he's not baiting the the the owner of the soccer club, but they're playing darts. And uh right, he he's he's throwing them uh right-handed and then they're they're going okay. And then finally that his his phrase of like be curious, not judgmental. Like that that's a great sentence to kind of live everything by. Like, be curious. If you were curious, you would have known I was a state champion three years in a row in darts. And if they're left handed, it's it in the middle, like, oh yeah, yeah.

Speaker 2 21:54

But seriously, yeah, I think it's such a for for adults, for kids, for everyone, yeah, be curious and not judgmental. And ask questions and you know and always say hi. I feel like, you know, if we're walking the parking lot or if we're at the park, you know, like kids will just like stare at Harper as she walks by, like, just wave hi. You know, a simple hi goes a long way.

Speaker 1 22:12

Um just be nice in that kind of a sense. Like, oh hey, you don't have to be best friends, but you can wave hi and just be the person there. Um, so kind of closing out our conversation today, um, in the rare disease world, we kind of talked about it before with those my those inch stones that are milestone. Um, but what did what was you like a small milestone, maybe something that not everybody would would hooray about, but it happened with Harper that made you guys feel like you were winning the lottery with her. Like, oh my gosh, yes.

Speaker 2 22:50

Well, I kind of have two, like, one is more of a bigger picture, broader, but we always say that Harper sees the world in rose-colored glasses. She doesn't see anyone for what they're wearing or what status they have or what color or what size. It's just everyone is a joy for her to meet, and every day is joyful. She loves going on the bus every day, she loves going to school to see her friends. She thinks therapy is the best thing ever. Like everything is joy, and I just want to look through those rose-colored glasses alongside her. And she teaches my husband and I to not fret about the small things and just to be joyful.

Speaker 1 23:26

We can be a little cynical in our old age.

Speaker 2 23:28

Yeah, and to be our blessings every day. And so that's like where I feel like we won the lottery, and that like, wow, we're so lucky to have a daughter who sees the world like that. Um, but like a milestone that I feel like Harper has accomplished and continues to do is she's a skier. We live in Colorado, she skis for the Special Olympics. The girl is fast, she is good. Um, I can't keep up with her. Like, where I'm almost like I my husband has to. Um she loves it, and I feel like that's huge. I would never think when Harper was learning to walk when she was literal little wearing AFOs, you know, on her feet, that and with low muscle tone, that she would ever be skiing down a mountain and now on a team and she's on the intermediate team. So yeah. Oh, that's awesome.

Speaker 1 24:11

I usually catch a face full of snow. I've never learned how to like turn. So I'm like, oh, that's orange fence. That means it's a sheer drop. I should just tuck and roll and just start sale. Yeah, I I'm totally fine with that. Um, so last question before we we kind of close up here. But um, when you when people hear your family's story with Harper from this podcast, what's one thing you hope they'll walk away with?

Speaker 2 24:36

Oh um, I think it's to find the joy in the little things of our children and to celebrate those and to never stop advocating. Like an I I wish I could say like it's just one time, but it's like continue being your child's voice. Um, yeah, just continue being your child's voice and finding the joy in the little things.

Speaker 1 24:56

It's for everybody, really, in any situation. Yeah, find the joy that you're you can, which is uh it it's hard sometimes, but every once in a while you get that little glimmer, or it's a hard day, and all of a sudden they bring up their book for you to read, and you're like, Yeah, buddy, I can read for you, you know, whatever book it is. Yeah, awesome. Well, thank you so much, Amber. I really appreciated you coming on the podcast, talking about your story, and it's always good to kind of catch up and go through stuff that that maybe we hadn't talked about before, even as we've been to different places and advocated here and there. But we appreciate you being on uh roadmap to rare. And don't forget, from listening, like and subscribe wherever you guys listen to your podcasts, uh, and be stay tuned for episode three.

Speaker 2 25:40

Thank you, Eric.