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Episode 87: Carolina Sommer - Pfeiffer Syndrome
29 Plays14 days ago
This episode is both about Carolina and her daughter Mariana’s journey with Pfeiffer Syndrome, and about how rare disease families can truly impact healthcare.
Carolina shares the long and emotionally exhausting path to diagnosis, the repeated hospitalizations and surgeries Mariana endured, and the emotional impact of raising a child with a visible rare disease.
What stands out throughout the conversation is Carolina’s extraordinary resilience and compassion. Rather than allowing fear and trauma to define their lives, she transformed her family’s experience into advocacy, education, and systemic change through the organizations she founded, including Born a Hero.
The episode explores difficult but important topics: medical gaslighting, delayed diagnosis, the emotional toll on caregivers, bullying, mental health, and the urgent need for patient-centred healthcare. Yet despite the challenges, the conversation is filled with hope, warmth, and humanity. Carolina repeatedly returns to the power of kindness, collaboration, community, and listening to patients and families.
It is ultimately a story about turning pain into purpose, and about how rare disease families often become the strongest advocates, educators, and changemakers.
The song that Carolina chose is The Truth by Megan Woods.
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Transcript
Introduction to 'On One Condition' and the Guests
00:00:00
Speaker
Hi, I'm Sylvain Bertelot and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who leave them every day. My guest today is Carolina Sommer and we're going to talk about her daughter Mariana and Pfeiffer syndrome.
00:00:20
Speaker
Hi Carolina, thank you for joining me. How are you doing? Thank you so much for having me here. Doing great. Excited to be here. Well, I'm very excited to have you on the podcast.
00:00:31
Speaker
We've been in contact on LinkedIn for a while, but we've never really had an opportunity to do that. And I'm really looking forward to what we're going to
Music and Its Connection to Self-Worth
00:00:42
Speaker
discuss today. Thank you.
00:00:43
Speaker
But as you know, I love starting with a song. So which song did you choose and why? This was hard. i I love Christian music. So I chose the song The Truth by Megan Wood's.
00:00:56
Speaker
And I chose it because I feel like there are loud voices that kind of like try to tear us down and they tell us lies about who we are supposed to be or what we should look like or how we should measure our worth.
00:01:11
Speaker
And they just slowly drown the truth if we let them. So I tell my daughter and a lot of rare disease moms, remember that nobody should be strong enough to bring you down and take your happiness away.
00:01:23
Speaker
that is giving them too much power. So I think that was the message that I wanted to say with, because my daughter gets bullied a lot. Oh, okay. Well, very strong message to start with. And I fully agree. And I feel like we could do a podcast episode just on that.
00:01:40
Speaker
We might come back to your daughter being bullied as we go along. Thinking about Mariana and her and your journey with Pfeiffer syndrome, I feel like it's probably good to start from the
Realizing and Diagnosing Pfeiffer Syndrome
00:01:56
Speaker
beginning. So how did you realize that Mariana had Pfeiffer syndrome or something that needed to be checked by the healthcare system?
00:02:05
Speaker
Yeah, i it was really interesting. like i felt like at the 24-week appointment when she was in the womb, I saw that picture and I think and i thought to myself, like there it looks like there's something doesn't seem right. I don't know. Maybe I'm just crazy. So I didn't say anything.
00:02:22
Speaker
and then when she was born, her head was 100 percentile in circumference. And it was like this really hard delivery. And she came out purple and she couldn't cry for two weeks. And i when I first saw her and you know, they gave it, they gave her to me for a few seconds and then took her the NICU.
00:02:40
Speaker
I was like, something's off, like something's different. So then I just kept asking the question, like to our primary care doctor, like i pushed and pushed and kept saying like, there I think there's something wrong. And then they would, you know, measure her head circumference, which started again, like I said, in the hundred percentile, and I could see like exponentially growing and it was off the charts. And i just kept saying like, look, like this doesn't look normal. like I shouldn't do this, right?
00:03:08
Speaker
And then she kept telling us that we should just wait it out. That kind of was something that taught me that i we live in this healthcare system that is very, like it was the beginning of me realizing that we live in a system that's very reactive instead of proactive.
00:03:22
Speaker
yeah And so eventually she like referred us to Seattle Children's Hospital through a lot of pushing. And basically two days later, the doctor said,
00:03:33
Speaker
She needs brain surgery. You know, she was six months old when she had it. She got a VP shunt. So it's like a tooth that drains her fluid from her head to her abdomen.
00:03:44
Speaker
And it's the highest failing medically implanted device that there is. And the surgery is done every two seconds in the U.S. Yeah, it's crazy. There's just so much pressure in her head. And I i feared thinking, I get scared thinking that she could have had brain damage from that.
00:04:00
Speaker
But still at that point, There was no diagnoses. Can I just ask, you noticed something even before Mariana was born, but then you had all this waiting until someone took you seriously.
00:04:15
Speaker
Do you know if that waiting had any impact on Mariana's condition at all? Well, I guess that's what I feared. i felt like when we got into Seattle Children's and they said she needs surgery in two days, I felt like we were, the pressure was so bad that I felt like she could have easily had brain damage if we had been any later. And I i think that's why like early diagnosis is so important. And for our kids, I see the impacts of that, how like it matters where you live, you know, and how early you get diagnosed and what kind of center you have. And and I think sometimes, you know, we take things for granted, but um something like
00:04:59
Speaker
as simple as getting that treated early is the difference between brain damage and not, you know, so that's, you know, it changed her life and ours completely. Right. So yeah it's a huge thing.
00:05:11
Speaker
So what happened after the brain surgery? Yeah. That was at six months and we still actually didn't have a diagnosis, but I still felt like, you know, there's something for rare diseases, like a visible type, you know, it's pretty like obvious, like, but you know, like there's some rare diseases are invisible and those are a little pyrotype diagnosed, but you could tell that something was different.
00:05:35
Speaker
And so it was actually not until we got her an eye appointment because she had a little bit of a lazy eye that, so we took her to a clinic and the doctor was like, I think your daughter has Cruz on her Fiverr. And I'm like, what really? And so she like referred us to Seattle Children's again.
00:05:55
Speaker
And we got to see a genetic counselor and run a panel and she was diagnosed actually with Fiverr syndrome. So it was at two and a half years that she was diagnosed.
00:06:05
Speaker
Wow, that's a long journey. What was that journey like from your point of view? Was it a constant fighting to get seen?
00:06:16
Speaker
What was your mindset at the time? I just, first of all, I just think like, I can't believe how like a mother's instinct is something that we should always trust. And it's like, I think that part of our healthcare care system, I think in this journey, I feel like is that I don't think people would want to make things up, you know? So I think it's important to believe the patient and a mom's instinct.
00:06:39
Speaker
From the very beginning, I just trusted my instinct and I'm, you know, I'm kind of a handful. So like, like I'm not going to go away and I'm pushy, but I guess I worry about the families, what happens to the families that,
00:06:55
Speaker
are not as pushy and annoying as I am, you know. I had to do a lot of pushing, or at least the diagnosis part. Yeah, yeah. And Iona, I completely hear you.
00:07:09
Speaker
Through the podcast, it's a bit biased probably because I talk to a lot of people who are advocating already and who are probably on your side on the pushy side.
00:07:21
Speaker
You said it first. um But yeah, that's true. What happens if you're not and if you if you believe the healthcare system and and wait for it to react, eventually, I can imagine that it would be a much longer journey, and much more questioning yourself as well.
00:07:42
Speaker
I mean, i definitely think that the system is meant to be, I mean, it's, that's what they're taught is to be reactive instead of proactive. And so I don't think, I think it's a systematic issue. I don't think it's an individual issue. You know, i don't, you know, blame it on anybody, but I think that's just what it's meant to do. i So I think that's what we need to change. Right.
00:08:04
Speaker
Yeah. So could you tell us a bit more about Mariana and how Pfeiffer syndrome impacts her on a daily basis?
Daily Challenges and Healthcare Struggles
00:08:16
Speaker
Yeah. so for our particular ear disease, I feel like the first few years are the hardest. So the first five years of her life, we spend about six times a month in the hospital.
00:08:30
Speaker
is interesting because, you know, like if a kid gets sick, You know, it's a cold and that's it for us. Every time she got sick, we ended up in the ER because she would get croup because she had such a small airway and her sugars would drop, which I had no idea like what, how that was related to Pfeiffer syndrome. But there's always, you know, a lot of times there's just all these other things that go with it. And there was always a surprise And then she when she would throw up, she couldn't stop throwing up. And so we had to take her in for that. And then she had surgeries. And then she had heat sensitivity. She had a heat stroke. Like it was always like the first five years seemed like a blur to me. They were so – and it was my first time being a mom too. So it was all just like, whoa, like what just happened?
00:09:15
Speaker
And so it was a lot. It was really like about six times on average that we were in the hospital. And I kid you not, I slept on a recliner with her. for like the first whole year, first year of her life.
00:09:28
Speaker
That just takes a toll on you. But my mother instinct again was like, i think she has sleep apnea, like obstructive sleep apnea. And like, I was really afraid of, again, like brain damage for her. And, and I just feel like sometimes we think take things as simple as like sleep apnea for granted. And I, and it wasn't until like her third sleep study that really showed how obstructive her sleep apnea was. And it was because it mostly happens when she's on her back. And when she did her sleep studies, she was never in her back long enough. So
00:09:59
Speaker
And so that took a while to to do that, but I just didn't want to take any chances. And I know in our community that that's an issue with brain damage and with the sleep apnea.
00:10:11
Speaker
And Mariana, by the way, has had 14 surgeries. She's 14 years old. Last year, she had three brain surgeries. We almost lost her. we were on a trip in Malaysia.
00:10:24
Speaker
But, you know, after the first like five years, the craziness got a little bit better. her airways started opening up a little more and things got better. But then I think about things and I'm like, wait, but like she missed like half of the school year in fourth grade and half of the school year in fifth grade. And like, because she was having surgeries or headaches and I had to pick her up all the time.
00:10:45
Speaker
So yeah. And then like I was saying on top of all this craziness and medical journey, one thing that I think makes our disease kind of different is that they also just get bullied.
00:10:59
Speaker
that's kind of part of our package. And I think that's kind of different about our specific rare disease. Before we go into that, it's incredible to hear about all the complications Marianne has hass gone through as she was very young.
00:11:16
Speaker
It made me think, well, we think rare disease means you have certain symptoms that are related to that rare disease. But actually, it sounds like it's a lot more than that, that there are multiple potential complications.
00:11:34
Speaker
Yeah. that any Any small thing can turn into a big thing, essentially. Yes, absolutely. Yeah. It means different, right, for our kids. Everything is a little more complicated. yeah and And I feel, too, like you were saying, like,
00:11:50
Speaker
you know, you don't think of a bone disease having like heat sensitivity or like, you know, all these other things. And it's just that this is why i think like a holistic approach is so important because like for a lot of these rare diseases, you're dealing with like multiple systems and a lot of people have more than one thing. And so it makes it hard to diagnose because there's a lot more than just one thing going on. And, and, and just by,
00:12:18
Speaker
Having some of these rare diseases, like everything, like if she gets a mosquito bite, it's like she gets swelling, you know, like the heat sensitive, like everything's just a little bit worse. Like when she gets a cold, it's worse than like anybody, any us in our family, you know? So you know I think their immune system is a little different and they are more sensitive to things.
00:12:39
Speaker
Yeah, and and it's this balance in the body that if anything already takes the balance off course, which is the rare disease, then anything else on top of it is is likely to cause havoc.
00:12:54
Speaker
Going back to the bullying, can you share a bit more about why you think she's being bullied? So one thing about her disease is that the bones fuse early in the face. And so all the face is kind of pushed back.
00:13:11
Speaker
We kind of take this for granted. We have a bone that kind of protects our eye. So if you touch their face, their bones are like kind of way pushed back. And so their eyes appear like they're kind of bulging, you know? And so because the bones are fusing early and stuff, their face anatomy is different. So it's visible, right? So... People are not used to seeing that, you know, so I think that's why they get bullied.
00:13:36
Speaker
no Is it nasty? Yeah. Yeah, I could not even, you wouldn't believe what people said. And sometimes it's not just kids, because I feel like generally they're,
00:13:47
Speaker
you know, very curious and, you know, have questions, but I think sometimes it's the adults, you know, it's just hard because I feel like set aside from the medical trauma that these kids have to deal with, they have to deal with this emotional component.
00:14:01
Speaker
There's not much support for things like mental health. And so I feel like it's been like a lot of extra work in me trying to educate her, educate the schools, teaching her how to like advocate for herself.
00:14:17
Speaker
and how to handle those situations and how we can use this as an opportunity to teach people about Pfeiffer syndrome. you You want to like cry when you hear some of these things, but you can't run away from it. I think it's an opportunity to talk about it. and And there are ways to handle it that, because otherwise they're always going to be scared. You have to teach them that it's okay. And that, you know, like I'm just a kid and like, you know, you wave at them and you kind of bridge a gap, you know, and think some of these kids just, and people have never seen something different. And so, and I think it's been really beautiful how she has learned to advocate for herself and has won people over or with her kindness.
00:15:04
Speaker
And I think that surprises people, but that I think that's really where most of the change is, you know, made with people. And I think that creates real change. because that's not what people expect. And so I always tell her just win them with kindness. And and she really does. And they really like change their mind. I think i do feel like people say these things.
00:15:26
Speaker
And I want to believe that it's just because they don't know and they don't understand, never been taught. And so I feel like That's where I want to take it on us to educate, you know? So that's what I like to think of too. And I feel like there's a lot of opportunity, not just like with empowering our kids, but the school we've gone to her school during surgeries and guess what? Like, it was awesome. Like the kids had, were very curious. They're initially were afraid to hurt her is what we learned.
00:15:59
Speaker
And then once we explained things, they had great questions and it broke some of the barriers. because But I think it's just, you know, in our culture sometimes we're not used to different.
00:16:10
Speaker
And so I like to think that, you know what I mean? and so yeah Yeah, definitely. And I mean, it's ah it's it must be difficult for her, but the way you presented it, she must have such a strength now.
00:16:25
Speaker
I agree with you. Understanding, i mean, let's be honest, if if we all made more of an effort to to understand others, the world would be a much better place. It's just ah a shame that Marianna suffers the consequences of that.
00:16:42
Speaker
Yeah, and I honestly, i mean, I say this, I really did struggle with it in the beginning. i would like prepare what to say because I would shut down during these moments. And then somebody would just come and say something different. I'm like, oh, okay. I wasn't expecting that. So I'm like, I need to like something else to say for that. So it took me a while to like figure out how to deal with it. You know, and like, like it was, it wasn't like automatic, right? Like I had to, it took me some time to figure out like what was the most constructive and productive way to deal with it. But like, and how not to shut down and make it a positive thing. It was something I had to work on for sure.
00:17:22
Speaker
Yeah. Yeah. But she, she's handled it really well and she, she understands and she like, it's hard sometimes. I mean, like how, I mean, it's hard for an adult.
00:17:34
Speaker
well It is. It is. Yes. So, and so, yeah. So i I just think sometimes we have to look at things a little bit different and there's always another side. And I think, and so we try to like really focus on that. Yeah. Yeah.
Born a Hero: Foundation and Research Initiatives
00:17:49
Speaker
So I would like to shift slightly, if you don't mind, because I know you do an exceptional work through Born a Hero.
00:18:02
Speaker
And I think people already felt probably that you talk about our disease rather than Mariana's disease. So yeah there's already a sense of community there.
00:18:14
Speaker
ah Could you tell us a bit more about Born a Hero and how you started it? Yeah, Mariana was born in 2012 and Born a Hero began in 2016.
00:18:27
Speaker
So there was two years where it took us to diagnose. And then the other year and a half was just like my isolated years. um I literally remember like where i i looking at her one day and oh my gosh, I wish everybody loved as much as this kid loves. Like she just loved everybody and she was always happy.
00:18:50
Speaker
She walked into the hospital like she owned the place. Like she was just, I was like, why am I like sad? She wants me to like fight. She wants me to like, you know, so like I'm here, here like sad and trying to process this. And I'm like, I'm I need to fight for this. And then I kind of also during that same time, learned a big lesson in my life and a very important lesson.
00:19:13
Speaker
And I think that the best way to deal with pain is helping other people. I really think that it's the best therapy and, and helps with everything. So, so in, in thinking all these things through and piecing everything together, realized, you know, I,
00:19:31
Speaker
Mari is my hero. and And so I think that's really where the name started. and I also just think that these rare disease patients are the true heroes. They are who we should be looking up to.
00:19:43
Speaker
And so I think it was just fitting to me because all that they go through and like seeing how happy and compassionate they are these kids and families. And i just, that's what I just thought of, you know, that they're real heroes.
00:19:59
Speaker
ah Yeah, that makes sense. and I agree with you. think in the last episode, we were were talking about unsung heroes. Yeah, I fully agree. So what did you have in mind when you started Born a Hero?
00:20:12
Speaker
At first, I didn't really know totally where i was going, but it started out as a support group. We built a website, we created resources for families, we created a curriculum to present from preschool to second grade so that we could learn how to celebrate all differences, including medical differences and like how to empower people.
00:20:39
Speaker
And so we were presenting this at school districts. And so it kind of started as as that. And then, and then I realized that, you know, I got really into the healthcare care part of it things from my other organizations and It became, our we decided to become a research foundation in 2020.
00:20:58
Speaker
And as a research foundation, we decided to study 15 FGFR syndromes. FGFR stands for fibroblast growth factor receptor.
00:21:10
Speaker
So these genes send signals telling cells when to become bone. And so and like in Pfeiffer syndrome, the mutation causes signals to like stay on too long or too so or too strongly. So that leads...
00:21:21
Speaker
some skull bones to fuse early. So that's, but there's ah these 15 syndromes are all very similar. And we thought that there are a lot of pathways between them. And so that's why we started studying all 15. And by studying, I mean, we have our own research registry because we wanted to be patient run and patient owned. So we thought that was really important.
00:21:48
Speaker
I love what you just said, patient run, patient own. Can you explain what that means to have your own research registries? The way I see it is I think that, you know, there's a lot of doctors that leave the practice and I've seen this happen and then the data gets lost and then for rare diseases, we just don't have time to be recreating something and to start all over and it's not efficient.
00:22:15
Speaker
So i you know I think that that's the importance of having it patient-owned and patient-run and centralizing some of the data. And we're also able to collaborate with people bringing in their studies or referring to other studies. We just felt like that's where we wanted to go.
00:22:33
Speaker
What kind of research are you able to do? There's a couple of things that we've been working on. One of our first goals was like to find ah correlation between the phenotypes. So like the characteristics of the diseases versus the genetics and the genome.
00:22:50
Speaker
So phenotype versus genotype. So the correlation, is because we wanted to find that because right now our kids are kind of diagnosed superficially in the sense that if you have webbed hands, then, oh, it's Apert syndrome. If you have the deviated big toe, then it's Pfeiffer syndrome. And, you know, so If it's less severe, then it's cruzon. So it's not like genetically identified, like this is what, you know, separates this disease from the other one.
00:23:21
Speaker
And so we felt like if we could find this correlation, then we could help families plan better because there's so many like severities and levels of this syndrome that I think it's important to know.
00:23:36
Speaker
what gene is related to what actual thing, you know, because then you can plan better because there's some that are a lot more severe than others. And then there's the general survey. We did a couple general surveys because I felt like there was so much more than just what is said in literature about Pfeiffer syndrome. Like we found like 42 conditions within our Facebook support group that like we felt like could be related. So we sort of like, are we're trying to like see if we could find biomarkers or you know, just to give us direction, you know, like where to go, like, do our kids really experience heart conditions? And, you know, is that something we should be looking into further? So we're trying to understand, you know, there are other things we should be considering. So it's kind of, we have some general surveys. And then we're kind of trying to do natural history as well, because there's not a lot known about the adult population.
00:24:28
Speaker
i think that's kind of like our goals. But also they're There have been some mouse models and therapies that work on the mice. We want to kind of set it set forth some foundations as far as like the natural history and finding biomarkers as those things are happening.
00:24:48
Speaker
But the problem for us though, is that most of everything for our kids happens in utero. So there's a couple mouse models in the therapies I've worked with. on the mice, but a lot of it is in utero. But then there's this one pharma company working right now saying that before. and so I think we're a little quite not there in the science, you know, with like the in utero stuff, but there there's one pharma company that thinks that before the the age of one, we can maybe improve sight and hearing. So I think that's really valuable to us. So we're just trying to gather as much as we can from our end to see if we can find some biomarkers or things for
00:25:29
Speaker
as these things are getting developed, you know, and the science progresses, I guess. So I know a bit about science. I know quite a bit about running preclinical research and and then clinical research. And you make it sound like things just happen, but it it doesn't. It's a lot of work and a lot of pushing things.
00:25:53
Speaker
and a lot of getting people to talk to each other because you, a scientist at one end of the country could do something, but if other scientists don't align, then you you don't really make progress.
00:26:06
Speaker
Yeah, yeah.
Balancing Life and Advocacy Efforts
00:26:07
Speaker
How do you cope with this amount of work whilst being a full-time mom? That's interesting. I think, you know, I work really hard on a balanced life as much as I can.
00:26:22
Speaker
I just have boundaries. And so i just, and I'm also like learned how to delegate a lot. so I, you know, I'm learning all these new skills. You know, you learn all these new skills when you become rare disease parent. um But delegating is one of them.
00:26:38
Speaker
i think that everything has to be in balance, like your mental and emotional, your physical and your spiritual life. And so i I really try to balance those three and I and i don't sacrifice things like sleep. No, I used to.
00:26:54
Speaker
and so I, until I started having healthy, you know, heart issues. And then I was like, Oh, like I'm going to have a heart attack if I keep doing that. And so, and so it's always like, as a rare disease parent, like I know like everybody has to balance their life, but as a rare disease parent, I think you have to even do more of that. Right. Like there's just certain things i can't sacrifice. Like you can't sacrifice,
00:27:14
Speaker
you know, your sleep. And I've learned that I have to exercise some or I start breaking apart and in pain. And so that's what I try to tell the rare disease moms too. I think it's sad because i I, mean, I do that, but I know a lot of rare disease moms, they struggle with that. And sometimes I ask them like, what do you like to do And they're like, I don't know.
00:27:36
Speaker
m and I'm like, you don't know what you like? Like that is like all they do. Like, you know, that's becomes their, their life completely. And it's hard. It's hard. And I think I really try to fight for that balance between family life and work and taken me a while. I can't say. Yeah. what' it So those progress forever for all of us. i think No, but I mean, it's very important. and I think people need to hear that you kind of lose your identity when you have to focus so much on someone else. Me too. Yeah.
00:28:14
Speaker
But going back to, you said the heart issues, did you have any other signs of stress being on on top of you? Yes. Oh my gosh.
00:28:26
Speaker
I hate to say this. It sounds horrible, but I i feel like I've had health issues since Marianna was born. So like you know I think the brain is so powerful and stress can leak just do so much to you. And so I feel like I've had so many health issues and and it's been manifesting different parts of my body. But, know, I had head headaches every day for two years. Then I had stomach issues. i was in the hospital every two months, couldn't keep anything down, had my appendix removed. Then I had heart issues for eight years and then had surgery not too long ago. And then I think all that, I i want to say like it was stress-induced pain.
00:29:08
Speaker
And I mean, now I have an autoimmune, so I'm going to blame that one on COVID. well But my daughter's pretty excited because she thinks that, you know, maybe I'll be joining her rare disease world. so yeah But it does.
00:29:22
Speaker
I noticed that a lot of the same issues that I've had with health, a lot of other moms do too. So it's crazy, like how much it takes a toll on on ah on our bodies and You know, and sometimes you can just not feel that you're stressed.
00:29:39
Speaker
But, you know, your body will tell you otherwise. Yeah, yeah. Because I feel like that was what was happening to me. i'm like, I'm fine. I'm fine. Yeah. Yeah, and it's difficult to keep that balance, as you said, but it's very important. And i thank you for being open and honest about the impact it has had on you, because ah I'm pretty sure a lot of people need to hear that.
00:30:05
Speaker
If the situation becomes too big, no matter what the situation is... It's important to look after yourself. And I I because I'm not in that situation myself, but i imagine that sometimes it must be difficult to ask for help.
00:30:21
Speaker
But at the same time, that's probably the the most courageous thing to do if the situation becomes difficult to manage.
00:30:32
Speaker
Well, and you know, for our families, a lot of times they can't ask for help. Yeah. Because like their kids are so complex that it's, I have friends that try to stay within like a 30 minute radius because of seizures or, so it's, it's hard sometimes to get help because I feel like trained and stuff. And, and so it, you know, sometimes even when you do, yeah it's, it's hard, you know?
00:31:01
Speaker
Yeah. And do you think community helps with that? Because, i mean, you you've founded Born a Hero.
00:31:12
Speaker
i imagine that there's a big community behind and and within Born a Hero. Do you think it can help with with stress management and and feeling like others are going through the same thing as you and found finding ways to deal to deal with stress?
00:31:31
Speaker
I completely think so. Like a hundred percent. The best therapy for me has been my rare disease moms.
00:31:42
Speaker
It's hard to explain, but like, I think, you know, we do a women in rare meetings and we meet with our Pfeiffer families and we'll vent for like three hours. And it's, and it's like, as much as you want to like tell people, you know, and explain it, it's just,
00:32:00
Speaker
It's hard, you know, like they want to help, but it's sometimes it's hard to fully explain or fully understand. And, and so being able to just like vent about insurance, you know, like everything, like just like how bad everything is, or, you know, like just be able to vent about, decision I'm not saying like anything bad, but like,
00:32:20
Speaker
that relate, you know, being, having someone that you can relate to. And yeah I mean, you vent about it, but you also laugh about it, you know, so i' just saying it's all bad, but like, it really is the best therapy. So I just encourage everyone to have group meetings or meetups and do fun things together. And because also like, I find that the families, they are,
00:32:47
Speaker
the experts in the system. They experts in navigating the system. They know exactly what doctors, you know, so it's like a huge resource to learn everything from these moms. And, you know, like when I meet with them and I have this lady friend and we literally are driving together and she's like,
00:33:08
Speaker
oh, that's a good doctor for that. And that's a good doctor for that. And I'm like, oh my gosh, this is kind of crazy. But, you know, they just know like there really are the experts in the system. so Yeah.
00:33:20
Speaker
Well, amazing. So I'm going to shift to something else again, if you don't mind. Because on top of Born A Hero, I know that you're involved in other foundations.
00:33:35
Speaker
If you don't mind, I'd love for you to explain a bit more about those other foundations and also why you found the need to to found those other foundations instead of carrying on and doing everything under Born A Hero.
00:33:53
Speaker
Yeah, so Born A Hero started in 2016. Then I went to a conference at Seattle Children's Research Institute and i met with the president there at the Seattle Children's Research Institute.
00:34:10
Speaker
And something just clicked on me and was like, I need to, like, it would be great to unite the community. Like, why aren't we uniting? From that fair in 2017, started hosting this event with the Children's Hospital And originally, i honestly just thought, again, like to unite the community.
00:34:27
Speaker
And then what I didn't realize is that in time, it united our entire healthcare system in our state. So we work with insurance and legislators and the universities and the hospitals and at a counselors, the researchers, the social workers, the patients, pharmaceutical companies, like everybody. And I'm not saying like, we just know that like, or they just come like we have, we're working on projects with everybody.
00:34:51
Speaker
And so it united the system. Through that, we started the Northwest War Disease Coalition in 2022. That kind of came from this event, the fair that we were hosting.
00:35:03
Speaker
And we decided like, oh, we need to like, let's focus on policy. Like let's pass some bills. But you know, legislative stuff takes forever. just, oh my gosh. Like it was like, I just can't wait. Like I can't do this. And so it was like, I want to take some actions. I want to work on some projects. And and so that grew.
00:35:26
Speaker
And then everything just started coming all together. And then we're like, hey, why don't we like, Other states were wanting to do this too in their state. And so we're like, okay, well, I think like we've been doing this for a while. Like last year we started our new state and now we're doing three states this year, four states next year.
00:35:44
Speaker
And so we became like, it just grew into this national thing where we were building communities, creating coalitions, task forces. We were able to share our resources across states. We were able to standardize messages.
00:35:59
Speaker
The thing that's different about our conferences And I think what, you know, what what's made it work is that we don't like, it's not just about presentations.
00:36:10
Speaker
We bring like decision makers in the healthcare system and we put them all on a panel and we discuss what is the process? Like what, how does your process work? How does your process work? And then like really understanding the processes in the system and the gaps And then figuring out a solution in action.
00:36:30
Speaker
So it's not just about presentations. It's about like, let's like figure this out. And, you know, part of it, the problem is that everybody's working in silos. And I think a lot of times, like it's hard to talk to the department of health, for example, and then talk to the university and then go back and forth and back and forth when you could just put them all in one place in the decision leaders and we just figure it out together. We have the uncomfortable conversations. We figure out what everyone's doing because, you know, just like we're looking at these rare diseases as like holistically, we need to look at our healthcare holistically. So having these conversations, it needs to be with all the stakeholders there because otherwise you're missing something. And then you're going off and doing all these projects that you think should happen, but that's not what what is needed.
00:37:19
Speaker
You know? And so I think we're really learning what the gaps are and the processes are in each state. We figure out our event is like, what are we going to figure out? What are we going to do for this year? And what are we going to do for this year? And what are we going to do for the next year? So that's what It's like, and then we, we, with the legislative stuff, you know, there's just so much out there that I don't know what's true anymore sometimes.
00:37:43
Speaker
And so coming to a place where we can like say, here's, here's what's happening and we can all be on the same page. Like if you go to a legislator and everybody's coming at legislators for with all these different messages, they're like, like, who are you with? And where are you coming from? And we're saying different things like we have to standardize those messages.
00:38:03
Speaker
And so we have to all know what's going on. And it's not just about the patients advocating. What I'm realizing is that the medical professionals, they don't know that they should be advocating too. But I'm like, some of these legislative things, like they affect your hospital.
00:38:20
Speaker
There's some rules that like, you know, like genetic counselors and are not getting reimbursed as physicians. But, you know, guess what? There's a bill for that. Like the genetic counselors should get involved in this policy things too. And so the thing about policy is that it's much stronger when you have the evidence and the stories. And so we all have to be advocating together on this and with the same messaging.
00:38:43
Speaker
You know, I think of cancer and they're like a hole, right? Mm-hmm. need to think of rare diseases as like we're this big force and we're a whole, not like so individualized.
00:38:54
Speaker
I think that's what we're hoping to do, just building these communities, creating these coalitions, figuring out the gaps and really doing patient-centered projects. You know, that's how we learn what things we need to work on. And what we're finding is that a lot of these problems that we're having in our system is not because the system is not doing what it's intended to do, is that it's not patient-centered.
00:39:16
Speaker
Yeah. You know, and so we need to redefine a lot of stuff. And that, you know, that's what some of the things that we're learning. And so we try to do a lot of pilots and guidelines and in evidence-based studies. That's another thing that we're doing with this, with the Rare Disease Alliance. So for short, summary, I guess, Born a Hero is specific to the 15 FGFR syndromes.
00:39:41
Speaker
And then the Northwest rare disease coalition is now going to be like Washington Northwest, like policy group. that thing And then the rare disease Alliance is now the national umbrella organization where we're building communities and creating coalitions and doing those things and and doing some studies. And so it wasn't like I was intending any of this to happen. i think that's just naturally how it evolved.
00:40:11
Speaker
That's incredible. It sounds like you're so resourceful. and and And I love how you, I can imagine, because you haven't really said that, but I can imagine that you go at problems with straight away trying to find a way around it and a solution for it, rather than hitting your head against a wall and and and not really finding how to stop it.
00:40:39
Speaker
So it's amazing. I just, I feel like what I'm learning is that you can't assume that someone's doing something. Yeah. I think that you got to try. i just don't believe that we can't. Like, I just always assume we can.
00:40:52
Speaker
And I think that it's not like it's something that I'm just doing. Like, I feel like what makes this work is honestly that we're very collaborative and we meet people where they are and we,
00:41:06
Speaker
we all do our part. And so that's how it has to be, right? So like, you know, we're working with insurance companies, we try to get their feedback, we educate them, we learn from them, and we meet them somewhere in between, you know, and like figure out what things we can do together. And it's very collaborative.
00:41:24
Speaker
I think collaboration brings an energy, you know, and naturally, right? and And I think that people don't understand that the more collaborative you are, that just more successful you will be. like You know, like it's just how it works, you know? Yeah. And you need that collaboration because you are aiming at systemic change. You're not trying to change one thing and and then move to the next one. It sounds like you're trying to change a lot of things at the same time and change how people approach those things and think about them. So without collaboration, you wouldn't be able to achieve that.
00:42:07
Speaker
Yeah. And, and like, you know, thinking about Born a Hero and some of these studies and stuff, we finally got an, we got an NIH grant in the last year or so. And what was happening was that all the centers of excellence in our state, for example, you speaking of collaboration from our research,
00:42:28
Speaker
perspective and a hospital perspective, everybody in different states were doing like different surgeries. Like there was no, you know, like everybody kind of like doing their own thing, you know? So there, and now like, thank goodness they're working together and I'm so proud of them. Like, like you just will be more efficient, you know, like, and so we can't be doing this. Like it's just, and and for rare diseases, we have to be efficient. We don't have time to lose, you know, but it's like, now they're working together and trying to figure out like, you know, what are the best practices? Like, because that's confusing too. Yeah. different Things like you know, I don't know. And, and collaboration also centralizes stuff, you know? So it's just, yeah, I don't know. Yeah.
00:43:16
Speaker
ah but yeah and it's funny because you're laughing because it doesn't make sense but that's the way it's been for years so why not carry on but yeah no i hear you oh wow amazing absolutely amazing unfortunately we're we're running out of time but i have one last question for you yes And you can decide to answer it for yourself, Mariana, or both of you. It's up to you.
00:43:46
Speaker
What's your happy place, a place where you feel at peace? So I will answer this for Mariana because we actually travel around the world with our kids.
00:43:57
Speaker
But with Mariana, she says she always comes home. And she's like, there's no place like home. There's no place like home. And I and i actually always agree with that.
00:44:08
Speaker
We love to travel, but there's no place like home. And she loves home because she has all her things. And she has a ton of books. She loves to read.
00:44:20
Speaker
She loves her space and her room and her Legos. And so everything's kind of there that she really loves. And she plays her piano. And so, yeah I think, I feel like we're really grateful for where we're at.
00:44:35
Speaker
And as much as we like to explore new things, it's always nice to come home to. So I think that's our favorite place. Wow, that's fair enough. And it's, not everyone feels like that. And it's great to have a place that you feel like you can always go back to and and that's going to be where you're at peace. That's amazing.
00:44:59
Speaker
Yeah, and we purposely kind of went out in the country a little bit. So there's just this a big sense of peace because we're like among the trees and we see owies, coyotes and bears and we get it all here.
00:45:13
Speaker
and so there's there's definitely, a you know, we picked this place for that reason because everything felt so crazy and finding a place where it's just quiet and safe.
00:45:26
Speaker
Yeah. it's very important to us. And so I think I'm so grateful that Mari feels that way about her home, you know, because that's what we were trying to do, like just get away a little bit, the busyness, you know.
00:45:39
Speaker
Yeah. Thank you very much, Karina. I now realize how busy you must be. and So I do really appreciate you spending the time and sharing on the podcast.
00:45:52
Speaker
It's been amazing having you. Well, thank you so much for having me. I think this is so important what you're doing and so grateful for the work that you're doing. And i think stories are so important and we have, and this is a way that we can, you know, learn from each other. So really appreciate that and for having me here today. So thank you.