No Manual, No Map: The Start of a Rare Disease Journey

Nolan’s future depends on what we do right now.
Kara has fought relentlessly to get her son to this moment. Your support, whether large or small, helps turn scientific hope into real treatment for Nolan and stability for his family.
Please donate today --> https://give.rarevillage.org/campaign/733811/donate

We break hiatus to share Kara’s story of Nolan’s birth, crisis, and the fight to turn rare disease from a verdict into a plan. From induced coma and surgical hurdles to N-Lorem, we trace how a parent can move science toward real impact.

• Nolan’s traumatic birth, seizures, and NICU coma care
• Genetic diagnosis and first-line seizure strategies
• G tube placement, hip reconstruction, and line infections
• Ketogenic diet benefits and a rare, severe complication
• PICU admission with anemia, scurvy, rickets, and recovery
• ACTH trials, status seizures, and EEG realities
• Family resilience, sibling empathy, and community support
• The turn to ASO and CRISPR for KCNQ2
• N-Lorem acceptance and current progress
• Reflection pause and preview of part two airing Wednesday

Take care and thank you for joining us

Chapters

• 0:00 Welcome And Why We Broke Hiatus
• 1:08 Meet Kara And Nolan’s Early Crisis
• 2:46 Seizures, Coma, And Hard Decisions
• 5:10 Genetic Diagnosis And First Treatments
• 7:32 Surgeries, Lines, And Living In The NICU
• 9:00 Ketogenic Diet, Mystery Bleed, And Scurvy
• 11:05 ACTH, Status Seizures, And Setbacks
• 13:20 Family, Guilt, And Unexpected Resilience
• 15:00 From Desperation To Research: ASO And CRISPR
• 17:45 NLorum, CHOP Partnership, And Real Hope
• 26:10 Pause And Preview Of Part Two

Transcript

SPEAKER_00: 0:00

Hello, everybody. This is Steel Roses Podcast. This podcast was created for women by women to elevate women's voices. As I mentioned in my previous episode this week, I have a really special guest with me today. Now, I know all of you know that in December I usually am on a bit of a break, but I have a cause here that my guest is gonna explain that is very important and really very critical and crucial. Broke out of my hiatus because I really wanted to introduce all of you to my guest and my friend. I have with me today, Kara. So Kara and I met like three years ago when we moved to South Jersey. My son and her son were friends in the same classes. And so it was one of those like mom orbit things where we were just kind of encountering each other, you know, here and there. And it was almost like one of those moments where the right conversation was happening at the right time. And you all know how I feel about that in terms of the universe and things aligning, the way that they're meant to be aligned. This is one of those moments where during the conversation, I had that inkling and I had that instinct that kind of bubbled up inside me that said, I really need to go further with this. I need to go deeper. And in the discussion, Kara was actually sharing with me about her son, who has a very rare disease. And so I want to have Kara come on. I would love for her to introduce herself to all of you and share her story about her son. So, Kara, welcome to the podcast.

SPEAKER_02: 1:24

Hi, thank you very much, Jenny. Um, as you said, Jenny said my name is Kara. I have two sons. My son Thomas is friends with uh Jenny's son, Vincenzo. And he's 10, again, be 10. And Nolan is seven. When Nolan was born, we didn't know anything was um was was gonna be wrong, any issues. So Nolan was born on February 3rd, 2018, and at the local hospital, and he was born blue and not breathing. And I can remember the doctor like physically ripping him out of my body and just being so confused, and then not hearing him cry, and then taking him away from me and not understanding what was really going on. Um, and then they told me we need to find a different hospital because he had strider and they didn't have a pediatric scope. So I was like, okay, I was thinking, and then they came back and they were said he's having seizures, you need to go. So I said, I would like to go to CHOP. And they said CHOP has um is full, they have no more beds. So I asked the attending, I said, Where do you think we should go? And she was like, Ethically, I can't endorse a hospital. And I'm like, Are you kidding me? I'm not writing to the papers. I just I just gave birth to what I expected to be a healthy typical baby who's now seizing, and um I have no idea why. Uh so she's like, I think he needs a level four Nick you. And the next one or closest to us is DuPont in Delaware. So on February 3rd, 2018, that's where we went. We went to um Delaware, DuPont No Moore's Hospital, and we stayed there until May 10th. Uh, we were admitted for three and a half months. Just to backtrack a little bit, his seizures in the beginning were so bad. The first time I held him in community, uh, that I was in my a wheelchair and he just turned red and stiff as a board and then just desatted and went. And they had to grip him from me and revive him. And I was just so not used to that. I'd never seen anyone seize like that before. So, anyway, the beginning the seizures were really bad. So when we went to the morgue, they actually had to put him in a coma because his brain was too was just seizing and seizing and seizing. But I don't know if many listeners know this or not, but when you have a loved one that you are in charge of their medical care on a drip inducing a coma, you have to approve every little incrant. So all hours of the day, I would get phone calls, be two in the morning, three in the morning, mom, we want to go up, mommy wanna go up. And you have to say, okay, okay. And I can remember one time. Um I said, okay. And I thought we, you know, I he was still seizing through the coma and we overshot it. And his brain was just a flat line on the EG. And I don't remember how long I looked at that, but obviously they reactivated his brain and pulled back on the drip. But that's probably the only time my husband had to physically remove me from a hospital, even now, seven years. Because I remember looking at the line and being like on the EG. Why is nobody was talking about it? Nobody was saying anything. And I'm just like, what is happening? Why is nobody addressing this? And I just like I just lost it. And later on, talking with neurologists, I I found out that, you know, he gave them a good scare too. And but they were doing everything they could to help save my son. So I under at the in the end, once I understood the whole process, I under I understood why everything was going on. But anyway, so this is what's going on in the very like first few days. And at this point, we're waiting for genetic testing to come back. So nobody knows why this is happening.

SPEAKER_01: 4:57

And in my head, okay, maybe this is a injury because I'm trying to find out so many urban neurologists who are getting you introduced in the film. And people remember that neurologists started with um I have the news. Because he meant we finally had a reason, we finally have a cause. Because now we've had 17 days of this our baby seizing to the point of not having to do a coma. No not the reason nothing was working. We're not working. Um mutation in his case. We didn't know what that meant. And we just listened. Maybe like 24 hours to take that in and realize what it was. Once I did, I started contacting any researcher, doctor, any form. I just knew from the beginning that that would happen. That would be the only the only true hope for my son. Because he case in Q2 he knows what the cases are significant than I was aware that we're what the future is. So I thought journey from the new year within first from that guy. So it was very difficult because we're trying to make the right decisions in the right now. And then at the same time, trying to be present for one time. That I did have is concentrated on care of it. So anyway, what's the case in catching diagnoses? We were able to get him on a sodium channel water because we lost the option, which means that really potassium still is not a potassium channel opener that is uh on the market. So there are well, and we actually have him on potassium use on one now, but years ago, um, there was nothing. And so there was no option potassium channels in there. So we we went on to channel blockers.

SPEAKER_02: 7:32

We discovered in the Nick when we discovered he needed a G tube, he couldn't, you know, swallow um safely, so we had to have G tube surgery. Um, then we discovered his hips um were totally out and his sockets weren't there, so we had to have surgery to dig sockets and put his hips in, and then we that was all done in the NICU. One part of that, real quick, I remember, is that um Nolan was gonna go into the MRI after the hip surgery, and he had a catheter that wasn't MRI friendly for the epidural, and they caught it, and then he had to go on a morphine drip because they still needed the MRI, so they had to pull the epidural to give him this. They were very apologetic, and they I think that the chief came to talk to my husband, I don't remember, but he said that they they promised they will because of that incident, they got rid of all non-MRI friendly catheters. So that was this one thing I always remember. Like from the very beginning, when negative things happen, I try always to see if how can we turn this into a learning lesson or positive to help other people. And that was probably our first time. Um, and many to follow. Okay. Um, so we put Nolan on the ketogenic diet and we went home and on sodium channel blockers and in May. And then we went for a routine EEG in July 2018. And Nolan was a little pale, but um he was still doing PT like the day before. And I can remember that they did routine blood work, and the fellow comes in and says, Hey mom, we're gonna redo the blood work. We think something's wrong. His hemoglobin is uh a 2.6 at that moment. So we redid the blood work, but before the second results even came back, which was actually a 2.3 hemoglobin, an attending walked in and he wasn't hollering, like he wasn't screaming, but he very like stern and authoritative voice. And he was like he was rambling off to the entire medical team on why that blood work was accurate, and he hit a switch on the wall, and um lights just went off, and sirens and a team came running in in uh black scrubs, and they uh immediately transported Nolan to the PQ. Mind you, I didn't know. I'm a nolanologist, I say, so I had no idea what was going on. I'm like, okay, his blow blood count's a little low. You know, like I'm like, why is this like why is everyone freaking out? Not freaking out, but like responding very aggressively. And the even though I remember the nurse's name was Kara that day, uh, and she was like being very rubbing my back, being sympathetic. And I'm like, yeah, yeah, okay, we think you know, what's his hemoglobin's a little low? Let's let's, you know, that's what's the problem. Like, so anyway, um we wound up in the PICU, they gave us blood transfusions. Um, they were trying to figure out what was going on. They couldn't. And once our hemoglobin got back up from receiving blood transfusion, I wanted to leave because we just spent all this time in the hospital. I had my 18-month-old Thomas home. I for I forgot to mention, I never left Nolan, not one day. I went to the hospital to have my son and I was gonna leave with him. So Thomas had to go to my family a lot, and he was only 18 months, but I couldn't leave Nolan. So I was like in July, I'm like, I'm going home. And I was trying to leave, and the attending had walk had to walk in because I was leaving, and the fellow didn't know what to do. And he's like, Mom, I heard you're trying to leave. He's like, Your son's hemoglobin was a 2.3. We don't know how his organs didn't shut down. You know, and he rambled off on everything that would have happened in like within the very near future if we didn't catch his hemoglobin. And after I realized the significance of um what a hemoglobin is, I said, Okay, well, we'll stay a little longer. So we stayed, but we couldn't figure out why. So we ended up going home and then every week getting blood work, and every week his hemoglobin was dropping, and we had to have blood transfusions and iron IAG infusions in the hematology pediatric floor of CHOP building. By this time, so yes, sorry. So the we ended up in the PICU with the issue at DuPont. However, once we started trying to find the bleed, because his stool was dark and that's the only thing we could tell. So it had to be GI. And we exhausted everything. All the, you know, we did um colonoscopies, uh and endoscopes, like MECL scans, lymphatic studies. We did, we did everything. And they very honestly, they were great. Like, no, I don't I'm not trying to speak ill of them. They they sincerely just said, Mom, I'm sorry, we've exhausted our resources. You need to go to Boston or CHOP. And there was two specific doctors they said that are um wanted I know their names, but I don't know if I should share them right now. Like, but like legitimately, there is two doctors who are very that's their that's that's their niche, that's their expertise, yeah. So I said, okay, we're gonna go to CHOP because Boston's a little var. So we went to this particular doctor uh in GI at CHOP, and so our care is transferred for there. And so we ended up having to go weekly to for blood transfusions and um iron infusions every other week. Nobody could figure out where the bleed was coming from. We ended up in CHOPS PICU in February of 2019 with scurvy rickets, two broken legs, bleeding from his mouth, and failure to thrive. He was very sick. And they said the last thing before exploratory surgery to see where this bleed is coming from is let's hey, let's try to come off the ketogenic diet, see what happens. And so we did. And by May, it was resolved. It was a very rare reaction to the ketogenic diet.

SPEAKER_00: 13:17

I I was just gonna ask that. That was exactly what I was gonna ask. Like, how like how was the ketogenic diet affecting him? Like, how was he responding to it?

SPEAKER_02: 13:25

Well, we know it was helping because then in May, when we're off the ketogenic diet, um, he was still seizing, but then we went into status. And I can remember the doctor saying to me, You have two options, we can induce a coma or we can try ACTH. Because it was electrograph, it was like clinical subclinical status on the EG. So you when they did the EG, no one's brain was seizing, but you would look at him and you wouldn't know. So they said, Mom, we can induce a coma or we can try ACTH. And I said, Ready to do the coma thing, not doing it. So it's okay, let's do ACTH. And we did a round of ACTH that is it was shots in his size, um, I believe it was twice a day, every day, for a month. And I remember the doctor telling us uh you just it's like playing darts, but you're doing it into your kid's muscle. So actually, my husband was better at that than me because he's a better dart player. So anyway, it did clean up the AG. We were happy, but as soon as he got off the ACTH, it reverted back. So they said, Okay, let's try again. And we did another round of ACTH. And again, it cleaned up the AG, but again, it didn't stick. And that just went into uh a good maybe year of trying to chase his AEG and finally with other medications, and then the story that you're telling right now, this is like the first year of life.

SPEAKER_00: 14:50

This is his first year of life that you're explaining essentially, like I or is it the first six months? I yeah, I was trying not to follow your timeline.

SPEAKER_02: 14:57

Nope. So the first year was got out of the NICU in May 2018, then we ended with a 2.3 hemoglobin in July 18, then we ended up in their PQ the following February 2019 at one. Then we went in status in May 2019. So that's where we're at in the story right now, that his beginning. Um, and I actually have a picture. I should I'll show you that I remember the doctor saying just something funny when we did the ACTH, he said, okay, I want to warn you guys, um, often it can cause significant swelling, and it's it's labeled like an ACTH face. And the whole thing, I remember being like, never happened to my baby. Nope. And now I look back and it's hilarious how one huge. No idea. Like sincerely, no idea. Like all these things that happened, and I'm giving like it's impossible to tell you every little detail of like how traumatic all this was because we'd be at the hospital and you wouldn't know you're staying, and then you're staying you're not coming home. We were emitted every single month. Every month we are emitting viruses he's had because of the heat because of the heat of the blood, bleeding issue. We had to have picked lines at home, two pick lines. So we had a bloodstream infection um with one of them, and we we ended up uh with intrapector, believe it's called, and had to uh get obviously treatment for that. So if every single week we were there getting it, it was very hard to get a stick on him. He's very, very hard to get a line, so we had to maintain picked lines at home. Um, so that's why in the point of the story right now, Arma, is it's we just finished our ACTH, it didn't stick September 2019.

SPEAKER_00: 16:37

You know, well, one thing I actually wanted to ask you about. You mentioned that he had strider. I wasn't sure what that was.

SPEAKER_02: 16:43

That's when you have difficulty breathing in your airway.

SPEAKER_00: 16:46

Okay.

SPEAKER_02: 16:47

And it's like a specific sound that if you hear it, you know that someone's airway is having an issue.

SPEAKER_00: 16:52

Um, sorry, I want I wanted to ask that question. And you know, I I'm trying, I want to wrap my head around the situation. There's no way I'm gonna be able to really actually understand. So I do want to say that up front. There is absolutely no way I'll be able to understand what you've gone through. But how did you manage like those that first year, that first six months? I know you said family, friends. What a godsend, to be honest. And I know it feels kind of crappy because as a mom, you want to be with your children, you want to be with both of them. Only lightly when I went to the hospital with the twins when they were little, like to have the twins. Only lightly. I was only gone three days and I and I felt like god-awful, you know, and that's the part where I think your strength as a mom to focus in and say, like, I have to be here for him. Like, and as as much as it sounds kind of crappy at the same time, it's like you had to prioritize what you had to prioritize. You had to prioritize Nolan's life. It had to happen. And thank God for family, because Thomas at 18 months old was probably having a fabulous time like with grandma and grandpa, and had, you know, like not as much of a sense as like us adults do when we're in a situation like that, because we feel horribly guilty. Like the kids are they're resilient, and I feel like they do, they do bounce back faster. And one thing I I think I've told you many times before, I think as much as it's horrible to go through and everything, I do think a lot of this has impacted Thomas almost positively. Because and only because I've met Thomas so many times and I've told Kara many times that he's like my favorite friend, like he's my favorite child because he's I've told my husband, I I had come home one time and told my husband about him. I was like, this little boy. And they were, I think the boys were like seven. They were little, they were like little guys. And Thomas was just so caring and empathetic, and I could see it, and I hadn't met you yet directly. So I had no idea about your story. And then when you told me, and when I found out, I was like, oh my gosh, that's it. Like this is this is what I'm seeing in Thomas is that he's turned into this very empathetic human being. And that, like, you know, not to go too far off topic, but I am gonna, you know, I I I feel like he's like meant for something big. It's almost like, you know, different experiences and different people are meant to come into your path for a reason. Nolan came to you for a reason in this way. There is a reason why, you know, and it it's I if me as an outsider saying it, it I don't even know if you want to like kill me for saying something like that, but like, you know, I've given this quite a bit of thought leading in all of our interactions, and there's a really deep part of me that feels like like Nolan was meant to be with you, like he's meant to be with you. Like this was supposed to happen this way.

SPEAKER_02: 19:37

Yeah, I I I guess um the when you say that, the only thing I could think about is if I am successful with nolan genetic treatment and we do bring this technology and treatment and medication to his friends, and then then I can. get on your uh get on your boat this year, right? I know I know. So I like the reason the reason will in my in my what is the grander reason and the grander reason is I think Nolan um I think Nolan's gonna see a lot of kids' lives.

SPEAKER_00: 20:15

I think so too. Kara I truly think so too. You mentioned so I know about it because we've obviously been working on this for a long time. And the story of his first year I think the listeners who are listening and what you've gone through, I think they're they're gonna hear, they're gonna hear it and they're gonna hear in between the lines of how difficult that was because I I'm trying to fathom it and I'm even I'm having a hard time because I you as a human now I is is such a tremendous thing. And you'll hear it in the episode that I did to introduce your episode how I talk about you because you're you yourself are you're such an impactful person now to me. Like the first time we met, I remember afterwards I was like, oh I think I want to be friends with her. I was like something about her I want to be friends with her because you have this this energy about you that is like what you said. I mean none has already impacted lives because you told the MRI story with the catheter and that's already been an impact. So it feels what you're saying is right.

SPEAKER_02: 21:16

So I do want you like the ketogenic diet like I made I I asked them the I don't know if they were all I know is now though that there was teams because mind you it wasn't just DuPont it was DuPont of chop it's it was New York it was we went to DC like we went everywhere and this was very rare. Nobody so that alone educated in hundreds we'll say medical professionals that now learn next time that's happening they have a child on ketogenic diet or they put them through a plethora of testing in a year you know months and months of blood transfusion they might say it's the diet.

SPEAKER_00: 21:47

So yeah there was that and there's probably other instances yeah I mean you've gone through so much but there's probably other instances that have cropped up over his life because he's I was trying to calculate it out. He's what seven now? Seven seven which in itself is quite miraculous. Um so I'm sure there's a lot of other instances in his journey and in his treatment journey thus far or in the investigation of his of his disease and trying to find treatment that he has shifted in course corrected things. He's probably made ripples already and he's only seven. I want to take a pause with you know his history there and I do want you to talk a little bit about the hope now and where we are now because I want to know when you came upon the research for the um the it's not medication, but for the treatment for him. And you know how did you find that really is is the bigger question. I mean you must have been doing loads of research trying to find something for him.

SPEAKER_02: 22:50

Yes. So well there um there's there's numerous genetic treatments out there but I had to figure out you know which ones would work for KC and Q2 and then have a team that's willing to do it with me. And so I went after CRISPR and the ASO. And I can remember when I first started going after trying to find someone to help me with an ASO I was told numerous numerous times that because of the dominant negative issue for ally selectivity that which they need it means they need to separate the two genes because every time they silence the bad one they're silencing the good two and obviously you need one working copy that it wasn't possible but I wasn't going to give that up but in the aside I partnered with NYU and I started a CRISPR project base editing. So that's like actual genetic editing and I think that that's the goal of where medicine is going but we aren't there yet at least for the uh central nervous system that I and when I say I mean within the next couple years I do think CRISPR we will see it in central nervous system within the near future within science. Five I would say five years, but Nolan needs something right now. So sorry anyway it was actually really hard because I don't have a lot of you know clout and um resources so I would just be begging people um to help me. And I can remember I reached out to this one institute in Alabama um who's who develops ASOs. I was he believe he was quoting made four million four to five million and I was like okay I don't got that so I learned about an Enlorum from another mom um that is actually in the pharmaceutical world and I apply I brought it to CHOP and I they never heard of it. NLorum is a nonprofit that was founded by INIS pharmaceutical companies Stancrook and at this point in time nobody really knew who they were this was in 2020. So I bring it to CHOP and they okay mom let's do this we apply I'm so grateful we get accepted October 2020 and then things just start moving but we get um you have to get his you know his IPSC lines and uh uh the long sequencing they so that it all started just in in 2020 and the very he was like one of the first 16 patients I believe um even accepted and now here we are five years later and we're coming to fruition um I don't know if that answered your question because to to give you the details it would I mean the hundreds of emails denied by so many people that gave me the I'm sorry mom um I want to pause us here for a moment what Kara has just shared is a glimpse into Nolan's earliest days the trauma the uncertainty the constant fight for answers and the strength that no parent ever expects to have to find this is the part of the journey that changes you forever the part where survival becomes instinct where time blurs and where love and fear coexist every second in the next part of this conversation we're gonna shift forward we'll talk about where no one is today the hope that science is bringing to this story and the extraordinary path Kara has carved not just as a mother but as an advocate changing what's possible for children with rare disease.

SPEAKER_00: 26:06

If you need to take a breath here I understand this is heavy and it is also important. When you've right when you're ready to join us for the second half of this episode we'll be right here. The second half will be airing on Wednesday I hope to see you there. Take care and thank you for joining us