Kalla & Ivy's Story: Fighting to Breath

Summary

Episode Summary: "Kalla & Ivy's Story: Fighting to Breathe"

Introduction

In this emotionally charged episode of The Medical Detectives, hosts Dr. Caleb and Emily delve into the harrowing yet inspiring journey of Kalla and her daughter, Ivy. This episode, released on May 7, 2025, underscores the relentless fight of a mother navigating through a labyrinth of medical uncertainties to save her daughter's life. From childbirth complications during the height of COVID-19 to a rare genetic diagnosis, Kalla's story is a testament to perseverance, advocacy, and the profound emotional toll of medical misdiagnosis.

Kalla's Pregnancy and Birth of Ivy

Kalla discovered she was pregnant with her second child in December 2019. Her pregnancy proceeded normally until the outbreak of COVID-19 introduced unprecedented challenges. She recounts the difficulties of giving birth under strict COVID-19 restrictions:

"I went into labor in July, end of July. So it was a full mask delivery... pretty normal delivery. And then I lost a lot of blood because the placenta didn't fully leave my uterus..." [01:50]

The delivery was traumatic, culminating in Kalla barely regaining consciousness and witnessing her newborn, Ivy, struggle to breathe immediately after birth.

Early Symptoms and Initial Medical Response

Ivy exhibited alarming symptoms from birth, including irregular breathing patterns where she would stop and start breathing unpredictably:

"She would go... and then she would just go on with her little day. And she would do that constantly." [04:15]

Kalla's concerns were initially dismissed by pediatricians who attributed Ivy's symptoms to "neurological maturities" and common neonatal issues. Frustrated by the lack of acknowledgment, Kalla persisted in seeking medical attention.

Struggles with Misdiagnosis

As days turned into weeks, Ivy's condition worsened. She wasn't gaining weight, was unable to breathe properly, and struggled with bowel movements. Despite repeated ER visits and consultations, medical professionals remained unconvinced of the severity of Ivy's condition:

"Everyone who spent any time with her... was like, there's something seriously wrong with this baby." [05:00]

Kalla faced a series of misdiagnoses, being told Ivy's symptoms were typical for a newborn when, in reality, they were indicative of a rare genetic disorder. The lack of proper diagnosis led to emotional strain and isolation for Kalla, compounded by the limitations imposed by the COVID-19 pandemic.

Emotional Toll on Kalla and Family

The prolonged uncertainty and dismissal of Ivy's symptoms took a significant emotional toll on Kalla. She describes a sense of numbness and the constant fear of Ivy's deteriorating health:

"I'm so scared, Ava's gonna die. I have to box it in... I need to live my life, and she can have a normal childhood." [58:00]

Kalla’s support system, including her husband and mother, provided crucial emotional backing. However, the continuous battle against medical skepticism led to feelings of doubt and fear, highlighting the psychological challenges faced by parents advocating for their sick children.

The Diagnostic Breakthrough

The turning point in Ivy's medical journey came after persistent advocacy from Kalla. Through comprehensive testing and a genetic panel, Ivy was diagnosed with Para Myotonia Congenita Snell (PMC Snell), a rare genetic disorder affecting muscle function and breathing:

"When she turned blue again, we headed to Mayo... We started the discovery." [54:00]

This rare condition explained Ivy's severe breathing issues and other neurological symptoms. Despite the rare diagnosis, treatment options were limited but provided some relief:

"She takes two different sodium channel blockers... She's also maxed out on them pretty high doses." [54:56]

Treatment and Current Status

Post-diagnosis, Kalla and her medical team implemented a treatment regimen involving sodium channel blockers, which significantly improved Ivy's breathing and overall health. While the medication managed some symptoms, Ivy still faces challenges:

"She is still not growing and not breathing right. So we have to wake her up and do dream feeds and everything." [14:18]

The diagnosis also necessitated lifestyle changes, including relocating to a more favorable climate for Ivy's condition and adopting emergency protocols to manage severe episodes.

Reflections and Conclusion

Kalla's story is a poignant reminder of the critical importance of trusting parental instincts and the profound impact of medical misdiagnosis. Her relentless fight not only saved her daughter's life but also brought awareness to a rare genetic disorder that could affect many more families. The episode concludes with a powerful message about the strength of medical mothers and the necessity of advocacy in the face of medical uncertainty.

Emily reflects on the societal biases that often undermine postpartum women’s credibility, highlighting the need for greater empathy and support:

"The stereotype of women being crazy post-pregnancy... got in the way of her child getting the care it deserved." [71:07]

Dr. Caleb emphasizes the significance of sharing such stories to foster a supportive community:

"By sharing these stories, I think we're going to uplift the whole community." [75:34]

Notable Quotes

• "If you don't fight for yourself, no one will." – Kalla [75:34]
• "This box isn't sad. This box is survival." – Kalla [68:31]
• "The diagnosis doesn't change reality. Reality is she has atonia and the severest form." – Kalla [53:03]

Resources and Support

Kalla encourages listeners facing similar struggles to join support groups, particularly highlighting a Facebook group dedicated to myotonic conditions. This community provides a space for shared experiences and mutual support, underscoring the episode's theme of collective resilience.

Conclusion

"Kalla & Ivy's Story: Fighting to Breathe" is a compelling episode that sheds light on the intricacies of rare medical conditions, the challenges of navigating a flawed healthcare system, and the indomitable spirit of a mother’s love. It serves as both a cautionary tale and a beacon of hope for those battling medical mysteries, emphasizing the importance of advocacy, support, and unwavering belief in the face of adversity.

Transcript

[Emily]

I know our intros are usually light and cheery, but this was. This was a hard episode. I mean, we still laughed a lot and had a lot of fun, but I'm kind of emotionally a wreck after this one. I'm gonna be really honest.

[Dr. Caleb]

Yeah. And I would say this is a good place for a trigger. Warning for anyone who has experienced infant loss is a story of a very, very medically complex child and a parent's fight to keep this child alive despite the dismissal of her own doctors.

[Emily]

I think that what this episode really taught me, and I hope all of you glean some of the same inspiration from this, is that sometimes in our children's lives. And again, I don't have a child, but I guess I can be this in a friend's life or a family member's life. We have to put aside all of the trauma so that they can thrive in a simpler space. And I don't know the best way to say that. And you'll all understand so much more when you listen to this episode, but if you want to learn about selflessness, this is a great episode to listen to.

[Dr. Caleb]

So let's get to it. Hi, Kala. Welcome to the Medical Detectives. Thank you so much for joining us.

[Kala]

Hi. It's nice to be here.

[Emily]

I'm very excited to hear this story.

[Dr. Caleb]

Well, Kala, could you start by taking us back to when you first found out that you were pregnant with your daughter?

[Kala]

Yes. So I found out that I was pregnant in 2019. It was December of 2019. So my pregnancy was pretty normal up until, you know. Yeah, Covid. And so everything was going pretty normal. We got the anatomy scan right before everything shut down. That all came back normal.

[Dr. Caleb]

And tell us, is this your first baby?

[Kala]

Second baby. Second baby. Second baby. So, like, really not stressed out. The classic second child where you're just like, okay, I've done this. I know what I'm doing. Not a big deal. So everything shuts down, and I go into labor in July, End of July. So it was a full mask delivery. Thankfully, my husband gotta be there. Some moms didn't get that, but we were locked in a room, and we didn't move out of our room. So other than that, pretty normal delivery. And then I. I lost a lot of blood because the placenta didn't fully leave my uterus, so they had to do a uterine sweep. And I didn't know at the time how serious the delivery was until I was talking to my friend who's a labor and delivery nurse, and she was like, oh, my Word. That's not good. That's called a traumatic delivery. And so obviously, I was very not with it when she was first born. So I gave birth at midnight, and I think it was 6am when we finally got put in the maternity ward. So when we get there, our baby's not breathing right, and so they needed to hold her upright, and Dylan almost passed out when the adrenaline finally let down, and so he needed to sleep, and I was high off my mind. And so they took the baby and took Ivy and held her upright and watched her while we slept everything off. And then when we got her back, we noticed that she would just stop breathing, and then all of a sudden start breathing. And it would be like she would go.

[Emily]

Oh, that's terrifying.

[Kala]

And then she would just go on with her little day. And she would do that constantly. And so.

[Emily]

So just to give people a visual of what she just did, she looks like she's choking herself out, shaking her head back and forth, and then making what I can only assume is the most terrifying noise to hear from your child ever.

[Kala]

Yes. Yeah. And she kept doing it. So we brought it up with the pediatrician, and they were like, it's fine. It's neurological maturities. Not a big deal. And I was like, I had a baby and been around a lot of babies, and like, this is really weird. And they were like, no, it's normal. I'm like, okay, well, the hearing technician saw it and freaked out, and they were like, yeah, yeah. I mean, they're not a doctor. Like, it's. It's. It's pretty normal. And I was like. And again, it's Covid. So we just want to get home. And I don't know, like, I was still pretty. I mean, like, you just gave birth. Like, you're kind of like, okay, I trust you. Let's go home. And so they sent us home, and we go home, and I'm exhausted. So I hand my mom a newborn baby, and I'm like, cuddle your granddaughter again, second baby. And I was like, I'm going to go sleep. And so I went and slept. And then I come downstairs, and my mom is like, this baby's not breathing right. And I'm like, I know. And she's like, it's terrifying. And I'm like, yeah, I was told it was normal. And she's like, this isn't normal. And I was like. I said that. And they said, it's fine. I will say we bought the owlette sock, because I was. It's like a pulse Oximeter that you can get a monitor?

[Dr. Caleb]

Yeah, it's like a monitor.

[Kala]

And so I was like, okay, we've got something that's monitoring her oxygen and her heart rate. And on day three, my mom comes down the stairs and she's like, calla, I've been over here most of the time and Ivy hasn't pooped. And it's been three days. And babies poop like ten times a day. They constantly are pooping and she hasn't pooped. And I was like, oh, my word, we should probably call the doctor. So we called the doctor and the doctor sent us to the er and again, height of COVID bringing my newborn baby to the er. So that was an experience. And we go in and the pediatrician is like, you know, this is normal. Your milk probably is just not coming. Like, it's fine, it's not a big deal. And I'm like, she's not breathing right as well. And they're like, it's neurological immaturity. She's fine. It was just very dismissive. The doctor on call was like, the baby's fine. It's just your milk hasn't come in. Why are you in the er? Like, it's Covid. Why did you bring a baby here? And I knew that my milk was in, so I was like, you know, my milk has come in. And they're like, oh, it just hasn't regulated in her system yet. And I'm like, okay. And everybody just didn't want a baby in the hospital, which I think came from a good place. But the problem is this baby needed to be in a hospital. And so I go home and I'm like, apparently she's fine. And everybody who spent any time with her, including my sister in law who's a nurse, was like, yeah, there's something seriously wrong with this baby. And I'm like, okay, well, I don't know what to do. Like, I've taken her to the er, I've asked the doctors, they're all saying she's fine. So one week appointment comes up. At that point, we were with a family practitioner who I've known my whole life, amazing guy. And I was like, she hasn't pooped and it's been a week. And he sits me down and he's like, this is a really serious issue, Calla. This is not good. And I need you to start getting your mind around the fact that you have a sick baby, so something is wrong with your child. So I've known him my entire life and really trust Him. And having somebody look at you who loves you go, you have a sick kid, Kala, and I need you, I need you to get your head into that space was like, I'm so thankful for it because it's part of why I could fight is because I had him going. There's something really wrong with her. You're not imagining things. There's something going on and I don't know what it is. And you need to be prepared. And he's like, let's give it a couple more days and see what happens. But if not, you have to go to a GI surgeon. So we wait a couple days. Day nine, she finally poops. We're like, oh yeah, she's fine. Everything's fine. Like she pooped and then she didn't poop again. So at day 17, we went for a follow up appointment. I was all excited because I'm like, we're good now. And he was like, we're not good. You gotta go to a GI surgeon. So I go and take my 17 day old to the GI surgeon's office. And at this point it's like the whole like postpartum, I don't know what's going on. And I'm not allowed to have another person with me, which is a huge part of our stories. Like, I'm all alone. I'm postpartum, all alone in an office with a sick baby that nobody knows what's going on.

[Emily]

That feel like to be alone.

[Kala]

It felt really. I didn't know how I got there. Like I was really numb. So part of this whole experience is like I'm a pretty emotional person. And even as we're talking here, I have a hard time describing any emotions with it because a lot of it was like I was just numb. I mean, I still really box it in because it was something I couldn't control and it wasn't something that I couldn't believe. It was real. Like, you never think that you're gonna have the sick kid. And I didn't have any time to process it. I think was the other thing is like, you know, in this story there's just not a lot of processing. Because I mean, a, it's Covid. We're alone. And then there's just like a lot of.

[Dr. Caleb]

There's just all the doing, right? It's like you have another appointment, you go to the next appointment, you do the test. You do?

[Kala]

Yeah. And I was so nervous about not being taken seriously that as the story goes on, that's part of why I shut off my emotions is because I didn't want to be looked at as hysterical because that first ER visit, I was a lot more emotional. And I think that it feeds into that you're a new parent.

[Emily]

Do you think you were judged for being postpartum? Like, do you think that your credibility was limited because you were postpartum?

[Kala]

Yes, I do. I was trying so hard to be logical and not feed in because of this experience at the ER where I more was like, you know, she's not breathing. It scares me. And I stopped using the words like it scares me or I'm scared or horrified. But then also, I was postpartum. I was alone, and I didn't really know how to process any of it. I just remember sitting there and then telling the GI surgeon. I'm like, well, maybe she just doesn't have to poop. I was so delusional that I was like, this baby doesn't have to poop. And the surgeon had ways of making her poop, and she pooped a lot. So he did that. And then he was like, you need to come back because we need to do a test for. I always say this wrong, but Hirschsprung's disease. And did I say that correct?

[Dr. Caleb]

Yep. Yep.

[Emily]

What is Hirschsprung's?

[Dr. Caleb]

When babies are fetuses, the nerve cells, they have to migrate throughout the body. And they will migrate from, you know, starts in the brain, and then it's called the notochord, and then it branches out and by the rectum and the colon, that's the farthest part of the gut. If those nerve cells don't reach down there, then there's nothing to signal to contract and actually push to poop. And so Hirschsprung's is a condition where the nerve cells never make it to the rectum and the sigmoid colon.

[Kala]

And they have surgeries and stuff to fix it. So we went into that thinking, okay, our child has this. She's gonna have to have a major surgery when she's three months old. So then the GI surgeon, we get the test back and comes back negative. And every single test, they all say it like, hey, congratulations, it's not this. And you're like, okay, but what is it like? I'm so glad it's not that. But that didn't answer the question of what is going on. And so he's like, well, you need to go see a GI specialist. So then we go to the GI specialist. He was like, here's a whole bunch of Miralax. And we'll see if that works. And I'm like, great. So we go and we pick up our Miralax and gave it to her, and within nine hours, she starts pooping. And it was really convenient because we gave it at a certain time at night. And then I knew that at a certain time in the morning, she'd poop. And it was the only time she'd ever poop. So, like, I could time her poops to be very convenient for me. It was wonderful.

[Emily]

Way to find the silver lining.

[Kala]

Ah, silver lining right there. So in all of this, she was born. Her days and nights were perfect. They were not mixed up. And she was also sleeping. She started at eight hours a day, and by like six weeks, she was sleeping 12 hours. But she's also not growing. So she's not growing, she's not pooping very well, and she's not breathing very well. But man, can she sleep. So we had to wake her up and do dream feeds and everything.

[Dr. Caleb]

Is she breastfeeding? Formula feeding?

[Kala]

She's breastfeeding, but she's still not breathing right. And I learned that it's called stridor. So stridor is. You hear the term a lot with croup because it's a closing of the larynx. And so it creates this like really squeaky sound. It can be anything from like. Like this, like I can't. You can't mimic it very well, but it's like the squeaky sound that you can hear. And it can be like kind of a. More of a squeaky hoarse voice all the way to when she's in severe distress. It's this really high pitched squeak that comes out of her mouth. And it is loud. That's the craziest thing to me is, like, it can be really loud sometimes. And it's really high pitched. And it's. It chills you to your bones and at somehow, right in the midst of all the GI Meeting with the gi.

[Emily]

The poop extravaganza.

[Kala]

The poop extravaganza. I messaged our doctor and was like, hey, she's still not breathing right. And he was like, yeah, that's not neurological immaturities anymore. You need to go see somebody else. So he actually transferred our care over to a pediatrician who he really trusted, who deals with more complex cases. And the pediatrician went and referred us to a pulmonologist. And so I went there. The doctor was like, she's fine. It's probably just gerds, which is acid reflux. And I'm like, this Baby doesn't spit up. Compared to her sister, she's a low split up kid. And he was like, well, you just don't know. And he's like, these are called laryngospasms that you're seeing that's caused by gerds. And we're like, okay. And so we started antacids and the antacids didn't work. So they would give us a different one or a higher dose. And she's still not breathing, not gaining weight. She is pooping on a schedule. On a schedule, but she's not growing and she's not breathing right. So they up.

[Emily]

Are you still Miralaxing her at this point? Like, is she still so, like, she is not pooping without a Miralax?

[Kala]

Yeah, she like, literally cannot poop if she does not have. And it was a pretty high dose of Miralax in her bottle.

[Dr. Caleb]

And what is the investigation? I mean, the Miralax is just causing her basically artificially to poop. But what is the investigation as to why she cannot poop in the first place?

[Kala]

I was told sometimes babies just don't poop. And then it all figures itself out later. And I was like, okay, well, I'm mostly concerned about the breathing.

[Dr. Caleb]

And no one suggested, because we had this also our last episode, no one suggested admitting her to observe her over a period of time.

[Kala]

If I have one complaint in all of this, and I. And I have to. I have to be like, it was the height of COVID I have to remind myself of that. You hear me say it a lot, but it's because I have to remind myself that it was a really not a great time. Like, I actually broke down crying right around this point because my friend's baby wasn't breathing right once and he was admitted and observed. And my child hasn't been breathing for her entire life, and she's nine months old. And I'm so glad that that baby was held and observed. But, like, why is that not happening? You know? And so that's part of why I didn't think it was a big deal was because nobody was acting like it was a big deal. And nobody was like, maybe we should admit her. Maybe we should watch her. Maybe we need to have eyes on her. It almost felt like if I didn't have a video evidence, it wasn't happening.

[Emily]

There's a weird psychological experiment where they took a bunch of students and they wrote, you know, two plus. They sent one of the students out in the hallway and in the room, they wrote, two plus one equals Four. Okay? And they said, everybody in a class, when this person comes back in, you're just gonna reassure this person over and over and over that two plus one equals four. And when they brought that student back in, eventually, within about 15 to 20 minutes, that person was believing that two plus one equals four, even though, you know, fundamentally they left the room knowing that that is not the truth. But because so many people reinforced something that was untrue, it became true. And I think that's very similar to. From what you're sharing with us, your experience, your truth was altered because so many people told you a different truth. And eventually you like, I'm the crazy person. I'm the only person who believes this. Other perspective. I must be in the wrong here.

[Kala]

And I will say my mom got told in her 20s, she kept going in because she kept having chest pain and weird things happening. She got told like, she was just being a stressed out mom, and then a few years later, almost died of cardiac arrest from her cardiomyopathy. And so she.

[Emily]

She wasn't having it.

[Kala]

She had a. She was not having it. She was not having it. She told me this much later, but the day that Ivy came home from the hospital and she was holding her, she was like, this baby's gonna die of sids, and it wouldn't be the first baby in our family to die of sids. And so she was like. She, like, called my dad, and Because I had asked her to stay that night, and she called my dad and was like, I can't do it. Like, she's gonna die, and everybody's saying it's normal, but she's gonna die. And like. Like, my mom was like, caleb, you are not crazy. This is worse than your. You are downplaying this. Like, you are downplaying everything because you're trying to be heard and understood, and so you're downplaying it. And then I have this group of friends from my church who were constantly telling me, you're not crazy. Like, I had this overwhelming support of people in my life. And so it was this weird dichotomy because I, like, had a lot of support of the people in my life who had eyes on her, and then the doctors. It was like, you just aren't seeing her because, like, her pediatrician was amazing, and he had seen it, and he was like, this is not gerds. And so I had a lot of support from him. So it was this weird. Like, I had a lot of support, and I didn't. And I just kind of felt trapped in between trying to deal with it. And it was so hard because there's just so many weird things about her that you couldn't explain. Her, like, eyes were weird. Just like, really weird eyes. Babies have weird eyes. But then these were like, just weird. Like, they would get stuck and get.

[Dr. Caleb]

Like, stuck open or closed?

[Kala]

Open, shut.

[Emily]

Like looking at something and then they.

[Kala]

Looking at something that gets stuck. They would get pulled back into her head. Her eyes, like, she literally looked different. Like a whole different kid in different days. And like, what. There were days where I was like, something's really weird and then one eye would be bigger, one by would be smaller, the other eye would switch off. But it was all really subtle. So I would try to bring it up and then it would be like, well, she's a baby. They have weird eyes. And it's like, yeah, but this is like, weird, weird. And they're like, they do that. And I know that babies have. They do have weird eyes. But anybody who spent any time with her were like, she has really weird eyes. I'm like, I know. So this is going on all of winter, and at one point they had her on two different antacids, all the way maxed out and still no change in anything. So I do remember there's one point where, I mean, I was like, these. This isn't working. She's maxed out on these two medicines. And so I'm sitting with her pulmonologist and I was like, so at what point do we start looking at the rare things? Because I am totally a fan of and totally believe we should be looking at the normal things to start. But at what point do we start looking at some of the more rare things that this could be? And he was like, it's rare because it doesn't happen. Like, your kid is fine. It's just gerds. And I was like, I don't think it is, though. And I took a video of a laryngospasm and. And it was like I had walked in to. I was going to get a cute, like, little, like, you know, opening the swaddle moment. So I like walk into her sleeping. She's not breathing. So I'm like, oh, great, I'm getting a video finally of this because it's really hard to catch because it's just like a couple seconds. And my initial reaction when my kid stops breathing is never to grab my phone. But why isn't it? I know. And so I. I had a video and the doctor's like, well, that's not that Big of a deal, because it's just 12 seconds. And I was like, well, the video is 12 seconds. But, like, the Strider went on for another 30 seconds. And I don't know when it started. And he was like, it's just 12 seconds. It's not that big of a deal. And I was like, ok.

[Emily]

Your baby wasn't breathing, like, all the time.

[Kala]

All the time. This was, like a normal thing in my life. My baby did not breathe.

[Emily]

So it's more than just a choking cough. They're, like, literally not full on. Not breathing.

[Kala]

Yes.

[Dr. Caleb]

They call it apneic episodes.

[Emily]

I don't know how you emotionally dealt with it, Callum.

[Kala]

I was delusional. I told you. Delusion is my superpower. I was just like, okay. They said, it's fine, it must be fine. I'm going to ignore it. I'm gonna do everything I can to pretend this isn't happening. So then spring hits. She's about nine months old, and we start being able to, like, leave our house and, like, go play with people and go do things. And I put her to bed and went downstairs, was, like, chatting with my husband. And all of a sudden, my phone starts alarming. The owlet starts alarming, his phone starts alarming. Both our watches start alarming. Everything's alarming. So we sprint upstairs, and she's not breathing. Her oxygen's in the 70s. It's been. So the owlette only alarms if it's a continuous reading in the 70s, which is why it didn't alarm before, because it. Nothing lasted long enough to make it alarm. And so I grab her out. She's stiff as a board. Just, like, completely stiff. I grab her out and slowly she starts coming back to herself. My husband's calling 91 1. And she starts breathing again. And by the time the ambulance got there, she was, like, totally fine. Totally fine.

[Emily]

Of course.

[Kala]

So the EMTs are like, well, I mean, she's fine, so you can stay home. And I was like, okay. So we stayed home, and I have a problem of, like, I struggle with feeling, like, too much. I don't want to be too much for other people and I might cry. And so, like, part of me was like, do we really need to go? If they don't think we need to go to the hospital, we probably don't need to go. We're fine. It's not that bad. It's the story of my life. It's not that bad. And so then it could be worse.

[Emily]

Do you think you got dulled a little bit? Like, Having experienced it so many times and having a lot of doctors assure you that this is just something that is happening, do you think you just started to become numb to what was going on?

[Kala]

Yeah, 100%. I was like, in my. My life, that is normal. I am very numb to it. I mean, at that point, it was happening every half an hour. It was happening all the time, every day. So we didn't go to the ER that night. And I get a phone call the next morning from her pediatrician because I had emailed him, and he's like, she had a desaturation to the 70s for 10 minutes. Yeah, go to the hospital right now. Right now. You need to go. So we go to the hospital, she gets admitted. And we didn't go to the ER that time. We were just straight admitted into the hospital. And they do a full scope from her mouth all the way down to her colon or to her through her stomach. So they put her under to do that, and that came out normal. A little Malaysia in the bronchial tube. But, you know, they couldn't get the scope down. Like, it took a while to get the scope down because it kept getting stuck on the vocal cords. But that's not that big of a deal. I was like, okay. But they gave us oxygen at that point and a pulse oximeter, and we went home. The pulse oximeter went off all the time. And I told the pulmonologist this, and he was like, oh, it's just her moving, which is what happened in the hospital as well. So they would be like, well, she's moving or she moved. And I'm like, I don't think so. But I am trying to communicate, and you're not hearing me, and I don't know what else to do. So then we go and we see an ENT specialist. So they do the scope through the nose down, and he can't get it past the vocal cords. And he's like, ah, she had a laryngospasm trying to get through the vocal cords. And I was like, what's a larynga? Whatever you just said closing of the vocal cords, okay? And so the vocal cords spasm. So think when you, like, swallow down the wrong tube.

[Emily]

Oh, God. Yeah. That's the worst feeling in the world. That's a spasm.

[Kala]

That's a laryngospasm. Okay.

[Dr. Caleb]

And that's how you change the pitch of your voice right when you're singing is you are changing the amount of air that is passing through the windpipe.

[Kala]

So the ENT Then Sits down and gives me a lecture about how when you're a parent, things can seem really serious, but. But medically, it's not very serious. So I was like, well, this sucks. Like, I'm gonna go home.

[Emily]

Wait, how? You're kidding me. They sat you down and gave you a please stop worrying.

[Kala]

I had had that lecture at that point, I think, three times from different doctors.

[Emily]

How did you feel in that moment?

[Kala]

You know what I felt like is, oh, you're not gonna help me. You're not on my team. At that point, I was getting to a point where it's like, I know what it looks like when you have a doctor who's on your team and a doctor who can't hear what you're saying for whatever change. I was like, okay, whatever. Like, it wasn't normal. Like, he said it was normal, but it wasn't because he couldn't get through the vocal cords. But everything looked fine. So I just kept going, like, if you're not gonna listen, I'll find another specialist who will. And so then we went and we did a swallow study. The swallow study. The first time she went to swallow, the vocal cords held, the liquid reared. And then after a little bit, she was able to switch swallow, but it took several seconds, but again, normal, because the next time she did it, she was fine. And so then we do a sleep study. The sleep study. We hook her all up again. The one thing that this kid can do well is sleep. Like, she is still, to this day a fantastic sleeper. And so we hook her all up, she goes to sleep and actually, like, goes to sleep like a normal goes to sleep. And I can hear the strider start, and I'm like, great, they're gonna catch it. I'm gonna go to sleep. So I go to sleep, and the technician wakes us up in the morning, and she's like, I've been doing this for 27 years and have never seen anything like what I witnessed last night. She woke up, had stridor, and then went back to sleep 27 times. So I'm like, great. This is awesome. We will get our answers. So then the sleep study, I learned at this point, you can go onto my chart and read everything before your doctor calls you. So I. You know, I look at it, and it comes back normal, except for the fact she woke up 27 times. So then I'm talking to the doctor, and I'm like, you know, it says it's normal, but this. The technician said in her 27 years, she had never witnessed anything like that. And he's like, well, they wake up a lot when they are doing the sleep study. And I was like, well, I was in the room. She never woke up. She would do what she always does. She would lay, because at this point she could turn. So she would lay on her stomach and then arch up and then have strider and then go back to sleep. It was the creepiest thing. She was just like, push up.

[Dr. Caleb]

What was the point point of the sleep study? Was it trying to figure out if there was a neurological problem? Was it trying to look if there was a respiratory problem? What were they trying to measure?

[Kala]

I think they were trying to see if she had apnea, which is part of the problem, is that apnea has very specific parameters around what counts for apnea. And so she did have some apnea, but it fit into the norm for her age. Like high, normal limits. Yeah.

[Dr. Caleb]

That's why I was asking if they were looking also for, you know, because I'm also thinking of seizure type activity. And we've talked about this before about absence seizures and other, you know, so that's why I was just curious as to what were they looking for.

[Kala]

Yeah, I think that it was kind of a wide net. Let's just try to catch it. And the thing with Ivy is that anybody who put eyes on her for a long length of time was like, there's something seriously wrong going on and nobody knows what. Like, it was like, this is really weird, but if you're going off of the machines, you could write everything off something else.

[Emily]

But machines only know what we've told them are wrong.

[Kala]

Yes. And so we did that. We did the swallow study, we did the sleep study, we did a PT study, which is like the golden, I don't know, golden test for acid reflux. So they stick a sensor down her for 24 hours, and then you push a button every time she has an issue. So every time she had an issue, I'd push a button. And then that was gonna have a couple weeks before we would get an answer to that.

[Emily]

Wait, why do you push a button?

[Kala]

Couldn't you just like to record it? Oh.

[Emily]

Cause it's like a camera down there.

[Kala]

Yeah. I was like, okay, this is great. Maybe you'll catch something. Or we can finally rule out gerds, because I'm pretty sure she does not have gerds. And sometimes when she would have the stridor, she would turn blue. And our pediatrician told us to just always take her into the ER when she turns blue. So that's what we Started doing. So we did that, and then she turned blue again. And so we went back to the hospital. And this time we stayed there for, like, five days. And they did another swallow study during that. And before that swallow study started, I was holding her, and I'm talking to the technicians. And all of a sudden she starts having an episode. And she goes completely stiff. And she's hanging off of me, like, you know, like, just pulling back. And I'm trying to hold her. I'm trying to talk. And the speech pathologist is like, that's it. And I was like, yeah. So she starts calling out and having people record what she's seeing. And so she's like. She's laying. She's completely stiff. She's leaning back. She has no control over anything right now on her body. She. She has severe stridor, you know, and just starts listing what she's seeing really in rapid form. And then all of a sudden, she's fine again. And she's like, this is really weird. And I'm like, I know. So then we go on, we do the swallow study again. She does not swallow the first time. But she swallows just fine after the first time. And then she's like, I put everything down in the notes. And I will make sure that the doctors see this. And I'm like, okay, thank you.

[Emily]

How did it make you feel to finally have someone, like, it feels like, in your corner?

[Kala]

Yeah. Well, I was like, okay. Like, we're gonna get answers. You know, We're. We're getting answers finally. People are seeing it. They're recording it. Like, it's documented. Huge. We're gonna be good. We're getting an answer this time. They're gonna believe me this time. And I could tell that the pulmonologist who was working in the hospital that week. That she didn't believe me. I could just tell. And I could tell that she was irritated that we were there. And I could tell the nurses were irritated that we were there. Like, you're taking up a spot for a kid who actually has something wrong with them. With your kid that's perfectly healthy. Because, I mean, she was fine 99% of the time. So, like, she was crawling around. I had to bring a baby gate to box her in. And, like, I put a mat on the floor. Because otherwise she was trying to lick the bottom of the bed. And, like, the thing to know about my child is, like, still to this day, she is Ramona Quinby come to life. She's so charismatic. People adore her. But she's also just, like, wild kid.

[Emily]

Like, she's so.

[Kala]

She's a wild kid. She's chaos, you know, chaos incarnate. And, like, thinks things are funny. Like, she's had a sense of humor since she was really little. Like, she would pretend to snore at about this age. She was like, 10 months old. She would pretend to snore and then look up at you and start laughing.

[Emily]

I mean, she sounds awesome.

[Kala]

This sounds like she's great.

[Dr. Caleb]

But I can tell you, like, as a doctor, you look at a kid and you can tell when they are sick, right? And I'm sure she did not appear sick.

[Kala]

Yes, she did not appear sick. And there would be times where she would look really, really sick. Like when I look back at pictures and videos and stuff.

[Emily]

Yeah, yeah, yeah.

[Kala]

There would be days where she was totally fine or moments she'd be totally fine. And then when she was having issues, she looked so sick. And you can see the pain in the eye and the, like, everything. But then other times she's, like, totally fine and it could be in the same day. And so, yeah, you've got this, like, spunky live wire child, and you're just like, yeah, she doesn't look that sick. And then they do. I can't remember the name of it, but it's just the breathing portion of a sleep study. So it's like all the things hooked up to you on your breathing. So they did that test, and I was like, I am not going to let another test come back normal when she's already having strider. Because at night you could notice more because, like, she would have her issues and just play through it. She would stop breathing and continue to play because she was so used to it that she just kept living her life. So she didn't react during the day, but at night she always slept on her stomach. And she would do that, you know, the cobra with strider. And it was just so quiet and you could see. See it, and it was obvious. So anyway, so she's doing this test and she does the strider. And I'm watching the numbers tank and go into the 80s and then jump right back up. So it'd just be like. It would be a hundred right back up and it would be like, you know, like, I can't get anybody. So I'd try to run out and grab people. And then it would be normal. And she wouldn't be doing it by the time I could get somebody's attention. And so eventually, during that night, towards the beginning of that night, the nurse happened to be walking past, and I grabbed her and I pulled her in. And we're talking about it, and I'm talking about, like, it's really hard to show you guys because it's so fast when it happens. And so she was like, okay. And we're talking, and she's kind of messing around because she had to do some, like, recording stuff on the machine. And so she's kind of messing with it. And then Ivy has an episode, and she watches the numbers. That one went down into the 70s. And she watches it and she looks at me and she's like, she does that every night. And I'm like, yeah, all the time. And she's like, oh, no. Like, the machine isn't picking it up because it set for 15 seconds, and this was 14 seconds. And so she sits and records all night, just records time and time again. And she's like, the machine is not picking this up. And then so shift change happens. And she's talking to the nurse, she's talking to the respiratory team, and she's like, the machine did not pick up what I saw. These are my notes. This is what actually happened. The machine's wrong. This is right. And so I'm like, yay, somebody finally is seeing it. They're hearing me. This is great. And the doctors come in, and I'm all excited. And the ENT from before and the pulmonologist who's been there all week come in, and I'm sitting down there, standing up, and they're like, absolutely nothing is wrong with your child. Everything was totally fine last night. It was a perfectly normal night. Nothing is wrong with your kid. You are getting discharged and you are going home, and you need to accept that there's nothing wrong with your child. And I was like, the nurse, and he's like, the machine did not pick anything up. And I'm like, the nurse did. And then they walked out of the room. And so I called because we could have visitors at this point. So I called my mom and I called my husband, and I was like, you have to come now because we have to fight. Sorry. We have to fight. Like, I don't know what to do because everybody else has seen it. They're telling me I'm crazy because they haven't seen it, and the machines aren't picking it up, and something's wrong. This is really not right because anybody who's seen it freaks out. And it's not just me freaking out. And so my mom comes, and I told the Nurse, I want to see the doctor again, and I want to have a conversation now that I've been able to process it, because that was not the conversation I thought I was about to have. And the nurse was very ticked off. And she was like, the doctor says she's not coming back, and you need to leave. So my husband was pretty convinced it was simple focal seizures, and I was pretty convinced it had something to do with her neurotransmitters. And so because of, you know, like, googling, trying to figure out kind of what. What types of things would match. And so husband was like, we need to see a neurologist. And my gut was that there's something genetically wrong with her. I can't tell you why, but that was my gut from the beginning. And so I was like, well, I want to see a geneticist and a neurologist before we leave. And she was like, fine, you can do that. And so that's how we got it done is just, like, really blunt, which doesn't come natural to me. But it was just like, this is what I need, and I'm not gonna leave. And so we had the conversation with the geneticist and the neurologist. Actually, they came at the same time, and they were wonderful. So they did some apnea panels on her. And then the neurologist was like, I have no idea what this is, but I believe you. And I was so shut down at that point. I was like, I just want my genetic test, and that's it. And she. She was like, I don't think it's simple focal seizures. Like, it doesn't really fit the bill. But she's like, I wouldn't say it's not something to do with neurology. I just don't know what it would be. And then we went home. And as we're packing up the room, the discharge went through, and I get a phone call from the. So that our pediatrician. Amazing pediatrician. Literally called me every single day that we were in the hospital, ever. Under his care, the whole time, under his care. He would call us every single day, at least once, if not twice, to make sure that I understood what was going on. And so he calls, and he's livid. He's like, why are you going home? You should not be going home. And he was like, you need to go to Mayo. And I was like, we got the genetic test done. I need to sleep in my own bed. We all know she's going to turn blue again, so the next time, we'll just head to Mayo instead of going to the hospital we're currently at, because I live two hours away from there. And he was like, okay, and then we'll start the discovery. It's a diagnostic program at Mayo. So we started the application for that, but then he was like, if she turns blue again, you're going to go to that ER and get in through the. To the diagnostics program through the er. So that was our plan. That was our care plan. It was really nice to hear how mad he was. So two weeks later, we go to the neurologist, and it turns out that we had. We had set this appointment months before, and turns out that the neurologist who. Who saw her in the hospital happened to be the neurologist that we had an appointment with, which was amazing. And so she comes and she gets us herself, actually, which also surprised me. Instead of having, like, a nurse or a technician come and get you, she comes and gets us and she greets me and she goes, I have been thinking about Ivy for two weeks, and I have to tell you, I don't know what it is, and I think you should go to Mayo. And I was like, funny enough, we're already in that process. And if something bad happens, she's like, please tell me you're going to the ER at Mayo. And I'm like, yeah, we are. But then we had the appointment, and we're talking, and she looks at us and she goes, is Ivy always so stiff? Like she has a lot of hypertrophy, so like a really thick neck muscles and isn't moving her neck, she's moving her body to see. And I'm like, yeah, sometimes she does, sometimes she doesn't. It kind of comes and goes. And she was like, okay, that's weird. Just so you know, like, you need to track that.

[Emily]

That's the first time anyone had noticed it in all of her visits.

[Kala]

Yep. But then the neurologist was like, is there anything else? And so this whole time, whole time, my mom, every time we go to the doctor, she'd be like, you need to tell them that she has weird eyes. And I'm like, I can't. Like, I have told everybody at least twice, if not three times, nobody listens to me. I don't know how to explain it because at that point, I couldn't explain it as well as I can explain it now. So I finally. I was like, okay, well, she has weird eyes. And I don't know how to explain it. And I know babies have weird eyes, but she has really weird Eyes. And. And she was like, well, can you describe it to me? And I was like, well, I can show you. And she's like, what do you mean? I'm like, oh, all we have to do is make her cry, and I can show you. And her eyes will get stuck. And she's like, what do you mean? So I pull. She's like, drawing. Disturbing. This is so disturbing.

[Emily]

Let me make my child cry.

[Kala]

Yeah. So I grab the pencil away from her, she throws her fit, we give it back to her, and then she can't open. She's perfectly happy, cannot open her eyes for, like, several seconds, and then all of a sudden can open her eyes and, like, her eyes, like, all shift. They do their shifty thing, and they get back to position, and she just looks at us and she goes, I know what that is. That's under the umbrella of dystonia. And she's like, I need you to do research into dystonia, because it's a whole big umbrella, and you guys know the symptoms, you know what you're seeing better than I do. And so I'm going to do research, but I want you to do research. And we had another appointment. So she was like, you need to do research and bring it with you if you don't go to Mayo first. But when you go to Mayo, you need to bring this up, and you need like, I will document this. And so she is like, I have no idea how this goes to the breathing and the pooping, but I do know what that is, and that is a pretty serious neuromuscular issue going on. And I was like, so I'm not crazy? And she's like, you are not crazy. Something is seriously wrong. And so we leave. And then I want to say, like, a week later, on Ivy's first birthday, it's funny because I took pictures of her, and I was like, there's just something weird. You just don't look right. And later that day, we were, my husband and I, okay, I got a new phone, and this plays into it. I got a new phone, and we were trying to transfer it, and there was a mess up. And so it was taking, like, an hour. And I had 00 phone right at this point. And of course, during those, like, two hours is when the geneticist calls, and she tried to call my phone several times, and it all dropped. And she was not going to give up, so she went and she found Dad's phone number, called dad. And so he saw it, and I was like, that's. That's the Hospital, like, answer it. So he answers the phone and it's her. And she is like, we know what it is. And the results came back and it is scn4ag1306e mutation will tell you more later. And of course I'm sitting there writing down, like, tell me what it's called. Because I'm like, I'm doing my own research. And she's like, the really exciting news is that most of the time I call people and tell them, like, there's not much we can do about it, or we don't know anything at all about it. I'm delivering really bad news. But there is a medicine that will change the course of her life. And it's a really simple medicine. So we gave her medication and her whole, like, face changed, her breathing got better. We were able to take her off of the Miralax. Everything got better. And when I got that diagnosis, it was just like immediately, oh my word. This is exactly it. Like, I was reading the, I think it's Nordic rare condition database and I was reading their description of the, the main overarching condition and I was just like, this is it. This is what I'm seeing. And it was incredible. It was the best present I've ever been given. So there's two different names for it. Para Myotonia congenita Snell or Myotonia Permanens. Most babies die of SIDS, they believe. And so she is about one in around 100 people worldwide that have survived their infancy with it. So what it is is her muscles tense but don't release the way that yours or mine do. So in your skeletal muscles, which are all the muscles that you think of as a muscle, you have little channels that open and let sodium in. And the really dumbed down version is that when the sodium goes in, that's how you tense your muscle and then you have channels that let the sodium out. And her sodium channels get so stuck open and they just keep letting sodium in until there's no more in that area and then they close. So have you seen the fainting goats on YouTube?

[Emily]

Yes.

[Kala]

So myotonia, which is the bigger umbrella of this condition, those goats have myotonia. Ivy specific mutation causes the vocal cords to shut and it affects the vocal cords. Whereas most people with myotonia or myotonic conditions, the vocal cords are not affected and so they vocal cords.

[Emily]

I knew it was gonna come back around to them. I knew it well.

[Kala]

And we found out it's actually bigger than our vocal cords. So it seems like, for whatever reason, her gut. Yeah. It's all of her semiautomatic muscles.

[Dr. Caleb]

Correct.

[Kala]

The smooth muscle are all really affected by it.

[Dr. Caleb]

That makes perfect sense with her gut, because your intestines. Right. You don't think, okay, intestines, like peristals, make the food go down. Those are controlled by smooth muscle versus striated muscle, which is like, I'm going to make a bicep. I'm going to do something like that. So same thing. Like, you don't really think about your vocal cords. Right. So that is fascinating.

[Emily]

Yeah.

[Kala]

So it's like her eyes, you don't think about blinking. Like you can, but you don't really think about blinking. Her anal sphincter and that bottom of your colon is really affected by it, and her diaphragm is also affected by it. So we're lucky she's alive. She's probably alive because she was born in the middle of COVID and she didn't get sick because her first baby cold was when her oxygen dropped that first time.

[Dr. Caleb]

She's alive because she's alive, because you.

[Kala]

Saved her, because we fought for her.

[Dr. Caleb]

Don't give. Don't give Covid that credit.

[Kala]

So we are super lucky that she's here. It is very rare. We are in that lovely group of people that go to the doctor. And I automatically know. If a doctor walks in and says, I don't know anything, you tell me. I know that this is a great doctor for iv. If a doctor walks in and says, I've seen this before, I go high alert. You're thinking about myotonia. You're not thinking about Snell, or you're thinking about something else, like myotonic dystrophy anyways, but you're not thinking about Snell. You're not thinking about the laryngospasms, because hers is so much more severe than a person with typical, like, a myotonic condition.

[Emily]

How do you treat this? Or is there no treatment?

[Kala]

Or is there. That's the other exciting thing. So she takes two different sodium channel blockers. So one is a seizure medicine, typically used for seizures, and one is a cardiac arrhythmia medicine. So those two combined really help her. She's also, like, maxed out on them pretty high doses. That's the only thing they can really do to help. And there was a little bit of, like, I kind of thought that she'd take this medicine and it would be perfectly fine and go away. And then we learned that is not the case. It just took it down to Like a more reasonable, treatable amount. So we had to come to realize again, oh, our child is still sick. This doesn't fix everything. And actually, our second pediatrician, the one who did the majority of it with us, his reaction was like, oh, I'm really glad. This does seem to be exactly it. And I'm so glad that you have this answer. We still have a lot we have to do. Like, this isn't a end of the road. We were also given after diagnosis. We were given an ambu bag after a pretty severe episode that happened when she was 18 months old. And, like, her stomach was great, like, her entire body was great. It was terrifying. And so, I mean, even now, every once in a while, have to ambu bag our child, which is not a.

[Dr. Caleb]

So the dilation, you know, like CPR bag.

[Emily]

Oh, oh.

[Kala]

With oxygen to try to get it.

[Emily]

Terrible.

[Kala]

And it doesn't always work. And sometimes she throws up and then you can't do. It's a whole. It's a whole thing. Because anytime you attend, sometimes she just doesn't stop tensing. So it's like, I have a four and a half year old who, when she gets mad, she turns blue and almost dies sometimes.

[Dr. Caleb]

Well, Kel, you know, I have a special interest in misdiagnosis. And one of the things that I try and bring awareness, especially amongst the medical community, is the trauma that is inflicted upon the individuals and the families for being misdiagnosed for so long. And just hearing you get emotional throughout the story, going through the swings of anger and depression and sadness. And you mentioned early on that you see a therapist. How do you feel like Ivy's case has affected you emotionally?

[Kala]

Emotionally. So I. That's a big one. I mean, we moved states because she couldn't breathe in Minnesota for a good chunk of the year outside, consistently. And so we were in Minnesota, but under 20 degrees, she starts having breathing issues. So we moved to Georgia. So we left our whole support system and, you know, like, a lot of financial stability, a lot of those things. We left. And so it's been really hard. I mean, it's really isolating. And like, there's an aspect of the whole situation where, I mean, we still have bad days about every other week. And on a bad day, like, I'm afraid my child's gonna die. Like, could die. And even if I took her to the ER at that point, they couldn't do anything. Cause there's not a lot to do. So, like I was told by her current neurologist, who's amazing he was like, I could have her in an ICU setting and she could still pass. Like, I can't necessarily save her. Everything we do has a about 50% success rate. So we have some emergency meds that we keep with her. You can't always ambu bag her. The way that, like, he's like, I'm pretty sure her organs are even affected by this. Just the way that you describe things and how quickly the oxygen just plummets. So that's been. I mean, it's hard, but I try. Like, I think as much as, like, putting. I don't know, like, I've been working with my therapist through this is like, I really do put it in a box and I set it down and I live my life, and then I pick it up when I have to pick it up. And she was like, in this kind of situation, like, you have to, because, like, you do need to live your life, and you can't sit in the severity of the situation that you have going on, because you can't.

[Emily]

Yeah. When you first told me about the box, I was like, oh, that's sad. But then I realized now, and just hearing what you just said, that box allows you to give your daughter normalcy. It allows you to treat her like a normal child, because if you had that over your head all of the time, she would live in fear. So you take on the fear, you take on the trauma, and you hold it so that she can be that same child that played while she was turning blue. Right. And that is, you know, I know you don't, you know, know what'll happen in the future, but that is a really beautiful gift.

[Kala]

Thank you.

[Emily]

To give your child, to be able. Sorry, I'm crying now, too. But, like, to be able to take some of that trauma of. Of something that is physically already really hard and put it aside so she can feel normal. And I think that's all any of us want, is to fit in and feel normal. And you're doing that for her. So I think that the box, as hard as it is, is a gift. It's not a box. It's a present.

[Kala]

It's a present. It's my little, like, you know, we set it well. And it also gives my oldest a ability. Like, I am so scared in all of this that. Because it's like, the diagnosis. Actually, I heard you. So the reason why I messaged you, Aaron, is because I heard you say that the diagnosis, you think it's the end of the road, but it's actually the start. And like, it was like we got told the diagnosis, and I was so happy and I was so relieved. And it was like, oh, thank goodness. And people were like, I'm sorry. And I'm like, Like, I'm not. It was happening. It did. The diagnosis doesn't change reality. Reality is she has atonia and, like, the severest form. But then it's like, as you start sitting with it and you start realizing, like, oh, this isn't going away. This is like, she was, she was created this way. Like, she will have this for the rest of her life, most likely. And like, so now I have. I mean, I, I. Okay, so at 18 months old, this is the day that we decided we had to move. I told, I'm not going to get through this. I told her that I was going to brush her teeth first because that's what you're supposed to do. That's a good mom. And so I'm like, I'm going to brush your teeth first, then you can brush your teeth. And she goes, no, because she's 18 months. And she goes to take that first breath in, and she stops breathing completely. Nothing's coming out. I'm watching her color change. Like, as, as I'm looking at her, she goes stiff as a board, and her whole body arches backwards, like it bows. And then. And her arms, like, get stuck up, and her eyes are just terrified. And so I call my husband. He grabs her and goes, you know, like he's holding her. I call 91 1. I have to go. Her strider starts. I have to go downstairs because the strider is so loud that I can't talk to the person on 91 1. And my husband is just sitting there holding her, and, like, I can't do anything. And this is like when we got the rescue med was after this and the ambu bag. But we're just sitting there, like, I don't. There's nothing I can do about this. And like, she's just dying and she's just gray. It was just a crazy color. And then by the time the ambulance gets there, thankfully she had recovered and she's like, totally fine. And so we go to the hospital and we go to the er and the doctors are like, well, she was diagnosed with breath withholding spells. And I was like, no, she's diagnosed with para myotonia congenita smell. And he. They're like, no, it's in her chart. She was already diagnosed with breath with holding spells. This was a breath with holding spell. Why are you here? And like, they start giving us a lecture. And I'm sitting there like my eye was holding my kid as she was dying, like an hour ago. And. And now I'm like, she has a diagnosis. She was diagnosed at this hospital. Like, it's there. So then we get admitted because pulmonology got involved, and they were like, oh, no. Like, you know, like, this is Ivy. We know what's going on. But then people come and start checking for bruising on her. And I was like, I'm a teacher. I know what that is. And I'm like, oh, my word. Like, there's.

[Dr. Caleb]

I was. I was not even gonna mention it because, you know, I didn't want to even put this in your brain. But I was going to ask, had anyone accused you of making this up?

[Kala]

Yep. And so I figure out what's going on.

[Emily]

I got a Munchausen.

[Kala]

Yeah. After diagnosis. After a genetic diagnosis. And so then I figure out that her chart is a mess because everybody put in their diagnosis whatever they decided wording to use. And so she has all these things and then the actual diagnosis. So I asked for her chart to get cleaned up. Her neurologist, like, I had her neurologist, like a direct line to the neurologist. So I called her and she was like, I will triple check that to make sure that that's cleaned up. She also wrote like a note that I could carry in my purse. Actually, I keep it. I kept it with me forever until we moved. And then now I have a different one, plus the genetic panel, because I. If I. Nobody knows about this condition. It's very episodic. It's very odd. It's. It is a. It's not shocking that you get accused of that. And yet I'm holding my baby as she's dying right before this. Like, it's just awful. And like, it's just like, I don't. I. It's the things that you don't talk. Like, it's like, how can you tell people that? I mean, I was terrified that my kids were going to get taken from me. I still have that fear because of that happening. And everybody stopped it. The safeguards stopped it. But I know that that was happening behind the scenes. And the trauma of that, like, honestly, I walked out from that unable to brush my kids teeth. And the doctors were like, good job that you still can tell her no. And like, because, like, so I didn't brush her teeth for like six months. And then have been working towards, like, going to a dentist and things like that because, like, I'm terrified of brushing her teeth. Even though, like, that's not. I know it's not logical. It's just.

[Emily]

It's association. I get it. It makes sense. There's a lot of trauma there. It's not. It's not the teeth.

[Kala]

Yeah.

[Emily]

It's what the teeth led to.

[Kala]

Yeah. And the. Yeah. So that's why the doctors were all like, hey, good job for still say no, like, good job for still parenting this kid. Which is why I have to have a box. Because I can't parent her if I'm in fear that she's going to die.

[Emily]

And if you're in fear that you're gonna get. She's gonna get taken away from you if you're in fear that people think you're abusing her. Essentially.

[Kala]

Yeah. Because the medicine we give her is very, very intense. I mean, it's. It's not. It's very regulated, all of it.

[Emily]

This is heavy. This is heavy.

[Kala]

So. Yeah, so we just are. I don't know, it's like if I don't have my box to put things in, I can't function as a human.

[Emily]

Yeah. That box isn't sad. That box is.

[Kala]

That box is survival.

[Emily]

Protection. Revival. Yeah.

[Kala]

Survival. Yeah. And like, you have to compartmentalize it because my goal is to have an adult child. Like, you know, I want her to live a full life, whatever that looks like, however long that is, I want her to have a full life.

[Emily]

And everything in that box gets in the way of that.

[Kala]

Yep.

[Dr. Caleb]

Well, I. I did my pediatric training at Boston Children's Hospital. Probably one of the, you know, greatest children's hospital in the world. And I always thought, like, if we had to go to war, like, I would be drafting those medical moms. Complex kids. Okay. Like, they are the strongest people. They don't take any shit. They're absolutely amazing because they. They have had to fight for everything. And I. They got the 10 pound binders that they're walking around with. The Trapper Keeper. Okay. Don't mess with. You will get, you know, a Trapper Keeper to the head. You mess with a medical mom.

[Kala]

One thing I do want to say, just because it's like the whole reason why I shared my story is I just really want to bring awareness to myotonia because we don't know how many babies are dying. There's some studies coming out saying that it's actually like a decent percentage like, that there are babies with Snell that don't make it a lot of them. And so I want to Bring awareness just that this condition exists. And. And then the other thing is that there's a Facebook group that covers myotonic congenita, paramotonia, congenital hyperkalemic, and just a whole wide range of myotonic conditions. But if somebody ends up getting diagnosed with Snell and sees this, if you're a part of that group, there is a text group for four moms who have all found each other that have kids with Snell. And so you're not alone and come find us and you have people in your corner.

[Emily]

So, yeah, I would say we would love to put a link to that Facebook group in the episode details here, just so people can find a place to. To talk to other moms in a similar experience.

[Kala]

Thank you so much. I really appreciate that.

[Emily]

Thank you.

[Dr. Caleb]

Thank you, Kyla.

[Emily]

You know, after finishing that episode, something hit me really hard. Square in the face is that we start this episode with. With her nearly dying, right? She's bleeding out. She's seeing a white light. She's going through probably her own most traumatic event in her life. And immediately, immediately after going through that, she is trying to advocate and care for a child that she knows is not okay. And she is being expected to be perfectly there. And she is so hard on herself. And I think you hear a lot through this episode, just these tinges of, like, I could have done better. And I just think how unrealistic the expectations were that were placed on her and how much judgment she faced solely because she had just had a child. Like, we talk about sometimes the stereotype of women being crazy on their period, that same stereotype exists for women post pregnancy. And in this case, it really did get in the way of her child getting the care it deserved because she wasn't treated as a trusted resource.

[Dr. Caleb]

And I mean, she talked about herself having an amazing support system with her husband and her mom and her family. But again, because of the uniqueness of the. That time in Covid, she was really just by herself. And it is really hard when you're in those rooms by yourself with the physician. There is a power imbalance. And again, I don't think that any doctor is intentionally being like, I'm up here and you're down here. But that's how it feels sometimes. And especially in this case where she fought so hard just to be able to listen to her own instincts and try and prove.

[Emily]

Right.

[Dr. Caleb]

I need the proof. She needed the recording. She needed the. It wasn't good enough when she took pictures. It wasn't good enough when the outlet Recorded it. It wasn't good enough. When the nurse physically wrote it in the chart. It had to be in black and white in a genetic panel before someone actually said, oh, you were right.

[Emily]

Well, I think what's interesting is her own reflections of herself really match that journey. Because, you know, throughout this, she goes, am I the crazy one? Am I the crazy one? Am I the crazy one? Another crazy one. And she had to remain in that feeling of feeling crazy until she had the proof. Even when that neurologist gave her feedback that, like, yes, something's wrong, it still wasn't enough.

[Dr. Caleb]

And she literally went through the, what I am considering classic stages of misdiagnosis that I have talked about, where right in the beginning, she was in denial, partly because she wasn't even all there herself and couldn't even, you know, admit that she was probably in denial. Then she starts researching, seeing doctors, getting optimistic. Cause we think, oh, well, this study's gonna do it, right? The sleep study's gonna prove it. This barium study's gonna prove it. And then you start to doubt yourself, right? How many times did she say, I feel crazy, People think I'm crazy, and then you're angry. She was furious at the end. I mean, she was like, I'm not leaving this hospital. And for her, I think what saved her from not slipping into those depression and apathy phases was she had those North Star believers. She had her family, she had her pediatrician, she had her neurologist, who they said, even though we can't figure it out, we believe you and we're going to help you.

[Emily]

I hope when people listen to episodes like this, they feel less alone, especially if they're still in their journey or they're fighting for their own child, that it is a long journey, but there is hope of getting there. There is hope of finding that answer. But at the end of the day, you have to keep believing and keep fighting for that care. Because, sadly, it feels like in most cases, if you don't fight for yourself, no one will. Or if you don't fight for your child, no one will.

[Dr. Caleb]

And that's why I feel like programs like this are so helpful, because it's a generic platform for all different types of diseases. And we realize we have so, so much more in common. Like, you may have had your foot run over by a bus, right? And you are going to find something in common with someone who has an infant with a genetic disorder. There are more things that will bring us together. And by sharing these stories, I think we're going to uplift the whole community.

[Emily]

Yeah, and I think there's a lot to learn from her and how she got the diagnosis for her daughter. For anyone seeking a diagnosis, even being able to acknowledge your stages of misdiagnosis and being able to potentially move through the unproductive ones a little bit faster is powerful. So I hope you all learned a lot from this lesson. And I would say if you enjoyed this episode or any of our other episodes, please please leave us a view, Leave a comment tell your friends and.

[Dr. Caleb]

We want to hear from you. So I know you all have stories that are worth sharing, so please send them to stories themedical detectives podcast.com the.

[Emily]

Medical Detectives is a soft skills media production produced by Molly Biscar, Sound design by Shane Drause if you have a medical story you'd like to see featured on the Medical Detectives, please email it to stories themedical detectives podcast.com the information.

[D]

Provided on the Medical Detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor patient relationship is established by listening to this podcast or interacting with our content. All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions or taking any action based on the content of this podcast. Never disregard professional medical advice or delay seeking treatment because of something you have heard on this show. If you are experiencing a medical emergency, please contact emergency services immediately or consult a qualified healthcare provider.