The Fight For What Is Possible: For Nolan. For Thomas. For What Comes Next.

Hope is here, but time is critical.
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We move from Nolan’s early journey into the present. We talk plainly about hypervigilance, sibling grief, community support, and the funding gap for N-of-one trials.

• What ASO is and how it targets RNA to silence a bad copy
• Why Nolan’s KCNQ2 variant is ultra-rare and high risk
• Trial gains from a potassium channel opener and current limits
• Daily caregiving realities, suctioning, feeding and dystonia
• Hypervigilance as a permanent state for caregivers
• The emotional load on siblings and lost moments
• Goals that matter most, vision, purposeful movement, connection
• How n-Lorem provides the drug and why delivery still needs funds
• NP Believe via Rare Village as the donation pathway
• Building awareness to help other nano-rare families

Chapters

• 0:00 Framing Today’s Conversation
• 1:01 How ASO Therapy Works
• 2:15 Nolan’s Ultra-Rare Mutation
• 3:41 Trial Results And Daily Realities
• 5:03 Hopes For Vision And Communication
• 6:14 Living In Hypervigilance
• 8:23 The Toll On Siblings
• 10:16 Community, Purpose, And Impact
• 12:06 Funding The N-of-One Trial
• 13:45 Where To Donate And Next Steps
• 15:35 Closing Reflections And Future Plans
• 21:00 Thanks And Farewell

Transcript

SPEAKER_00: 0:00

Welcome back to Still Roses. If you're just joining us in the first half of this episode, Kara shared Nolan's early medical journey, a story marked by unimagable, unimaginable challenges, relentless uncertainty, and a mother's refusal to stop searching for answers. In this part of our conversation, we're going to move into the present and towards the future. We do talk about what Nolan's life looks like today, how cutting-edge science, like and like antisense therapy ASO therapies, is opening doors that didn't exist just a few years ago, and why hope, even when it's cautious, matters so deeply. We also talk about what it means to live in constant vigilance, how rare disease affects entire families, and what community support can make the difference between surviving and truly holding hope. This is not just Nolan's story. It's a story about persistence belief and the quiet bravery that so many caregivers carry every single day. So let's continue. So the it is, it is very expensive. So the treatment for him, it's specifically designed to match him genetically. Like that's that's really an ASO, can you explain that a little bit too? Yep.

SPEAKER_01: 1:11

So, well, the ASO antisensal is not going to edit the DNA. It's gonna on the RNA. And basically, it's actually not his mutation because typically you can go after a mutation. However, with the dominant negative LS activity, the way they worked around it was they found a polymorphosism, which is another mutation that's non-pathogenic. Me or you can share this mutation with Nolan because it's it's a mutation that didn't cause disease, but it's unique and it's on his bad copy. So they go and they target it and they shut it down. It's like a like a wet light switch. So that's gonna turn that bad one off. And our goal is to have one good working copy. And so anyone who has that polymorphism on their bad copy can share Nolan's ASA.

SPEAKER_00: 2:00

I was trying to remember the statistic earlier today um about how many individuals that his particular disease affects, and I couldn't remember it, and I wanted to ask you about that. You must know, you must I think you probably know.

SPEAKER_01: 2:15

Yeah, no, so KC and Q2 was discovered in 2012. So it's relatively new. Um genetic testing is becoming more and more prevalent and accessible. Um, and we're getting more and more uh diagnoses uh, unfortunately, right? But but it's still a rare disease. I think at this point in time we have over a thousand globally. But what makes Nolan nano rare and have and lorem was able to uh accept his application is it's his particular mutation within the gene, less than 10 people known to have at this point in time. So the ones that there is eight of them total, and uh including Nolan, and um uh three of them have passed. So um we actually just lost uh one of his very twins in November. She's a little girl, 11 years old. So he's mutation 11, she was 11. Um is the location of the mutation is right in the pore, so it's significant. They have uh less potassium theoretically, because it's blocking a more significant part of the gene.

SPEAKER_00: 3:19

And with with the treatment, what's the there isn't a defined, I think we talked about this a little bit, there isn't a defined expectation, but there is a almost like a a range of this is where he could go from this, right?

SPEAKER_01: 3:34

So I guess I I told about our story and I just started so the first year heavy that I'll tell you where Nolan is now. Yeah he wants to go. Um Nolan, we were able to get some stability with our pharmaceutical company did a clinical trial with a potassium channel opener. They wanted 40 globally kids, 40. They got eight. So Nolan was one of those eight. He showed significant improvement. Our seizures reduced from daily to weekly, more awareness. I think he has a little more vision, but they had to stop their trial because they didn't get enough to participate. However, we are in their open-ended, open label portion in compassionate use. So we still have that. With that being said, Nolan still has significant battles. So we he's blind with cortical visual impairment. Um he's nonverbal, he's non-ambitory, he eats through a G2, but he he seizes weekly still. He has dystopnia, which is um a very horrific um tone disorder. But with all that being said, Nolan is cheeky and adventurous and loves music, and above all, loves his brother. Um, and they're just the two of them together is everything. Like today we went sledding and I was wondering if you were gonna do it. You have to tell me how it went. Go ahead, tell me. In the sled, I hold Nolan and uh Nolan loves it, and Nolan smiles, you know, and you can make some noises. So what we hope from the ASO, which again will hopefully shut his bad copy off, and we'll have one working good copy, is uh we hope I hope he will be able to see, um, because it will come his brain down, and cortical visual impairment is a you know neurological issue. So I hope he'll be able to see. I hope he'll be able to communicate a little bit more, like maybe make purposeful very, very strong, purposeful movements so we know what he's um what he's intending, maybe even gain some physical strength and possibly sit up longer and maybe even stand independently and possibly take some steps. Um and of course, I would love to hear his sweet little voice, but I don't know. I give this a lot of thought too, by the way.

SPEAKER_00: 5:46

I do. And I think I have I have very high hopes myself personally as well. And I've met Nolan and I can sense his vibration. So that's why I'm like, let's let's do this. I apologize, Kara.

SPEAKER_01: 5:58

Oh no, I honestly um I have become so lum, Jenny. You have no choice, and I actually find it hard to cry.

SPEAKER_00: 6:06

Well I do cry, but you have because you have to be in survival mode. This is actually what I was thinking about earlier today when I was recording like the pre-episode to explain your episode, and you must be in just survival constant.

SPEAKER_01: 6:24

It's actually a thing, it's called hypervigilance. Okay. And they say parents, caregivers of medically complex children like Nolan, who I mean, he still has seizures, he still has plugs, critical incidences ha can happen at any moment. Right. It's the it the article I read once was like it's very similar to the problem is you when somebody's in a critical incident, you get out of it and then you could treat it, right? So like you're you're involved in something, but it's over, and then you can receive treatment. This is there's no this is life. There's no ending.

SPEAKER_00: 7:01

There is no end. Yeah, it's like a constant, like this is it. This is life. This is not like it's gonna subside. This is always going to be. It's hypervigilance.

SPEAKER_01: 7:09

Just like I told you about the phone ringing in the NICU. My phone rang in the middle of the night, and it and and immediately my I wake up and my flight or flight's going. Because I'm expecting a critical. I'm ex like I'm ready. You know, you don't you don't you don't really plan these things or think like anything. A beeping, I think, uh, you know, his pulse ox, anything, like it's it's very, it's just it just becomes a way of life. So how you deal, I do moment by moment, and I I don't even I couldn't even, I don't even know how to really like I always say like to my mom or anyone, I'm like, I don't know how to tell you what my day is. I don't know how to get like you just have to come. You just have to come sit with, you just have to come be with us. Like, how do I explain to you that I had to suction him 15 times and pull an air mucus plug out of him? And he's obviously still doesn't use the toilets carrying my 56-pound baby six times in you know an hour because he has no control, and well, his nothing, case in K2 affects everything, even GI. So he's we have to give his medicine so he even can can stool, can even have bowel movements because we have to create, we have to give him all do it. So he has no control. So we change he honestly goes anywhere between like roughly 15 diapers a day. Yeah. How do I he's drooling, he's tripping on his own secretions, uh, especially when he's tired. Brushing his teeth is traumatic because he's he if he aspirates, uh his losing his teeth, as soon as his tooth is loose, I sit there for like 45 minutes isn't enough because he could swallow it and choke on it. Yep, yep. So, like double, how do you even try to like explain? How do you live without becoming numb? How do you can't?

SPEAKER_00: 8:48

You can't you truly, truly, truly have to, you you don't have a choice. You have to, and I actually I had gotten this sense in in what in the last discussion we had when we were on your front porch. And when you were talking, I had gotten the sense from you about that that you had become just purely for out of your own survival, almost like a basically like a physician, where you have to remove the remove the emotional element. Because if you don't, that's it. You're gonna be like me just now. Who's for those of you listening to the podcast? I was crying and I was like, Kara, I'm so sorry, I'm crying about you and your situation. Like, but you have to, and honestly, I think the way I think about you too, I'm like, I feel like I I would handle the same way. Like, what else? There is no other choice. You have to do it this way. I want you to talk about or I want you to talk about your donation page and where people can go have it. I'm gonna link it um into the episode description for everybody so that they can hear um or see where to go and can click. But you do have your own nonprofit now, I think, right?

SPEAKER_01: 9:50

Yes. Through Red Village. Okay, so I definitely I'm gonna talk about this, but then I do want to go back to Thomas for a second. Oh, yeah, go ahead. Well, we could do the nonprofit first, but would you rather do Jenny? Doesn't matter. You can go to Thomas first. Okay. So I just before when you said about Thomas, and I I didn't, I didn't I didn't want to not address that. I agree with you that the good things that came out of Nolan, but some as Nolan's mom and seeing what this is Casey and Cattu have stolen from us and our family, and how what it has taken from Thomas, and seeing, yes, it has made Thomas the most emotionally intelligent little boy, maybe person I know, kind and sweet, and you know, the first one to school. He's just he just has the sweetest little boy, but at the same time, you know, Casey and Catou is taking his brother from him. And as he gets older, he's starting to realize more and more, and uh it's really starting to impact him. So when I think about like the reason, right? Things happen for a reason, people say the only thing I could think about is if Nolan saves other children. Because while Thomas is amazing and so many good things have come out of being Nolan's brother, Casey and K2 took from my Thomas too. It's so Thomas's childhood too. You know, everything, even today, Thomas had to go sledding first with the neighbor, said I'll take him because we couldn't get out the door with Nolan. And we finally got there, we were there for maybe 10-15 minutes because we had to go. So the neighbor, you know, thank goodness we live in a great neighborhood and they helped out and they took him. It's we don't, we can't really, we can't really go to dinner as easy. We can't do things easily. Like everything is has to be planned. Everything has to be uh I can't, like, you know, accessible and he has to be good enough, uh like stable enough. Yeah, stable enough. So Thomas, Thomas is really struggling as he gets older. And the one thing I truly truly, truly he loves his brother more than anything, but he's in pain. He he's he's struggling with the idea of that Nolan's never gonna be able to do these things because of the fact that Nolan was a baby for so long and now he's seven, he's not a baby anymore. So and Thomas is really just in tune. And the one day he's looks at me and he goes, Mama, because he had a niche. He's like, I just had a niche. What if Nolan has a niche and he can't tell us? So he just starts scratching his whole body and like genuinely, you know, just like trying to make sure um Nolan's okay. But so one of the things with the ASOs that I'm really hoping is if if Nolan can play with his brother a little more, can interact with Thomas a little more, even grab his hand, make a purseful, purposeful movement towards him. Anything I think would be profound for Thomas and for us. So the it's more than giving Nolan a chance at the best life he can have and the best ability he has. It's giving my family the ability to live in the in the with the most peace because that's all we want. We want, we want to feel not even, yes, everybody wants to be happy, right? Of course, we want to be happy, enjoy, and love, which we have a lot of, but we want that like just peace, like knowing Nolan is, you know, is gonna be is okay. Right now it's just like a race against the clock. And I think Thomas is well aware of that too. He's very aware of this, the significance of how sick Nolan is.

SPEAKER_00: 13:03

Kara, I want to course correct a little bit too, because I think it was a misstep to say it how I said it before about Nolan coming to you for a reason. And I don't want to take away from what you guys are going through. So I do want to apologize. That was the No, no, I just I I I trust me, you you did not uh You know, I have to tell you the way the way that I always think about him in my head, for some reason, and I didn't even know the story about the catheter, I didn't even know any of the stories, but in my head, Nolan is gonna change someone else's life. Like I don't know why that always came to me, even before this recording. But like, even the time that I was on your front porch and we were talking together, the sense that I got from him was that, and that something big was coming from Nolan. And that if I could be involved in some way, that's actually what spurred me on, was because I had this sense of Nolan for some reason being significant in some way. And I still can't, I can't even quantify why I feel that way. It sounds nuts because I don't even know him that well, but like that's how it felt. And I was like, my husband was like, you know, how crazy busy I am at work. He was like, Why are you doing all this extra stuff? Because the day that I was working on your helping you guys with your the proposal and all this, and I I'm like, I I don't know, I can't help it. Like something is like drawing me here, and I think it's normal. And it feels nuts to say it. And I think that that's really what I meant earlier when I said, like, he's here for a reason because that it just feels like that with him. And and I have had exposure not to this rare of disease, but I have had exposure to a lot of people and to younger folks with special needs throughout my life, just because of some of the people in my family. And I've never had that kind of a draw before, but for some reason we're known. And and I have with my family, used to do volunteer work with this group called um the first Saturday Club. And it was a lot of people with a really special needs that had rare disease, and they would all kind of come together, all the families would come together to support each other. So I've been exposed. And one of my uncles had um, he was a paraplegic. He wasn't his whole life, he was in an accident and became a paraplegic. And so we all grew up learning how to take care of him. I actually knew exactly what we were talking about with the suction, and I think you said the mucus plug. I knew exactly what you were talking about because we all learned how to do that. So that's why when I met Nolan, I was like, oh, well, here's a gem here. It just got this sense of him. And you know, it's interesting because I was reading about him with, you know, nonverbal and you know, that he can't see it. And I'm like, I I didn't for some reason I felt like he saw and heard us. And I know that sounds nuts, but like it just I had this like sense from him, which is what made me say he came here for a reason because I'm like, oh, no one's here. Like he's here, he's gonna make an impact. And that's I know it sounds nuts. And the listeners are probably like, Jenny, shut it now. This is the time to shut up. But I can't like that's how I felt. Like that was the energy that I got off of him from that day on your porch.

SPEAKER_01: 16:03

I agree with you. Uh, I I really, really do. And you know, cortical visual impairment, he it means he can see on and off. And so I do you know he and he feels, you know, I know he feels. And so I agree with you. Like I feel like I haven't I haven't stopped and I keep won't quit. And in the end, it's Nolan who's gonna be the hero. Uh and I just know, I know, I believe in him. I believe he can do this, and I know he's gonna surprise the world. And that's why I have fought for seven years, almost eight years, nonstop, because I believe in Nolan. I really do. And even already he brought En Lorem to CHOP, and then other patients were able to apply to Enlorem because of him, because he brought that awareness. So now there's numerous other patients who are gonna hopefully receive their ASOs different diseases. Um, and that's because of Nolan. So he it's not just KC and Q2, he helped kids outside of that. So, yeah, no, I I agree with you. I don't I don't think you sound crazy. I think I feel a little crazy, but it's okay.

SPEAKER_00: 17:09

So you so you have N Lorem, but then you also have your own campaign that you have through Rare Village. So I do want to revisit that so that the folks know who are listening where they can donate.

SPEAKER_01: 17:20

So Rare Village was set up by a mom who has a special needs child um to help other families um set up their own individual campaigns through their non. So she basically does all the work and we set up campaigns and used Rare Village is the tech is the 501c. But Nolan's campaign, NP Believe, because he's Nolan Paul Boulder, NP Believe, um, is is its own campaign. So anyone who donates to NPP NP Believe goes 100% to Nolan and Nolan's treatment, but it's through Rare Village. Does that make sense? Yeah. Yeah. Some might be wondering, why do you need money? Because NLorem is a nonprofit who is creating the drug free for life. However, the clinical aspect, uh the actual administration of the medication is not covered. But we had to transfer our program and it's a research pro program. It's a clinical trial. It's an N of one. So you can't bill the patients, but you need money to fund the programs. You need so it's like it's like a pharmaceutical, it's like a clinical trial with no pharmaceutical company paying for it. So it's even though it's N of one, Nolan, we have this medication. Hopefully, we'll know about the GLP talk stage before Christmas. And now we got to get this medication that roughly cost anywhere between typically it's about 1.2 million a patient. I believe Nolan's a little more because he's been there since 2020 and he had a lot of the ally selectivity selectivity issues that um they obviously have thank goodness um worked through. And so here we are, we're faced with okay, we have this amazing, hopeful genetic treatment. Nolan will be the first KC and Q2 child globally to receive this treatment, but we need to ensure we have the resources and tools to actually give him the treatment. So that's that's why I started on people believe, so that when that medication is ready, I can turn around and say, please, you know, this is for your KCN Q2 research trial, earmarked for Nolan Bilder. Does that make sense?

SPEAKER_00: 19:31

Yeah, that's good. Thank you. Um, listeners, I'm gonna link in the description of the episode the link directly to where you can donate. And it actually still it has Nolan's story in there as well, so you can read through that. Um Kara, thank you for coming on and sharing your story today. I'm so sorry. I was like waterworks over here. Oh, I've been even share with you every like it like I know. Well, actually, so I That note, I would really, really love to be able to do some more episodes with you where you can share more. Rare disease is something that I've worked in very lightly through my job. And the significance of this is massive because across the board, there are very rare diseases that are only impacting a small part of the population. And unfortunately, in some instances, there's a lack of really just general knowledge and understanding. Actually, in most instances, there is a lack of general knowledge and understanding. And some instances, people are not getting diagnosed. As you said, like this was just discovered in what, 2014, 2012? 2012. How many people prior to may have had it, didn't know, and they never really discovered it, they didn't have the science to discover it. So this is this is really significant, even across the board. This is a huge deal. So I do want to do more episodes with you. I'd like to flesh this out a little bit further. Um, and for the audience, take a look at the link in the episode description. We greatly appreciate any donations that you can make for us for Nolan so that we can give Nolan a brighter future. So, Kara, thank you for today. We'll have you come back on for another episode.

SPEAKER_01: 21:06

Thank you, Jenny. Thank you for everything.

SPEAKER_00: 21:07

And listeners, thank you for being with us today. And we'll catch you on the next one. Take care.