Empowered by Hope
You want the best possible quality of life for your child regardless of diagnosis or prognosis. Raising a child with medical complexities is often lonely, scary and overwhelming. Join two parents of amazing children with rare medical complexities, Emily K. Whiting and Ashlyn Thompson, to get help and grow with them into empowered advocates for our kids. Here you’ll find a community of support, encouragement, education and resources, equipping you to navigate your child’s medical complexities with hope. To get more personal support, connect with us directly at www.ParentEmpowermentNetwork.org.
Empowered by Hope
Facing a Rare Diagnosis: Finding Hope & Community
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Receiving a life-altering diagnosis for your child reshapes everything. In this episode, Emily shares the emotional journey of discovering Charlotte’s rare condition—Hardikar Syndrome, a diagnosis with only nine documented cases worldwide at the time. We reflect on those heart-wrenching days and how hope and support helped Emily & Dan navigate the unknown. A key figure in our story is Dr. Alanna Strong, whose expertise and care have been invaluable.
We explore how using #hardikar on social media led us to a global network of 21 families affected by Hardikar Syndrome. What began as a few online connections has grown into a strong community. Together, we’ve deepened our understanding of the syndrome and doubled the patient population for research initiatives led by Dr. Strong. This episode highlights the power of genetic research and community-driven support.
Navigating a rare medical condition can be isolating, but it also brings moments of hope. We discuss how a diagnosis provides clarity, connection, and access to essential resources. No family should face this journey alone, and we invite listeners to share their stories and connect with us. Together, we can find strength in unity and spread a message of hope and resilience for families facing rare medical challenges.
Hardikar Resources:
1. "Charlotte has a Diagnosis!"
2. "Novel Insights into the Phenotypic Spectrum and Pathogenesis of Hardikar Syndrome"
3. Contact Dr. Alanna Strong
4. Private Hardikar Syndrome Support Group - click here to join this group if you are the parent of a child with Hardikar or you have Hardikar
5. Get your copy of She is Charlotte: A Mother’s Physical, Emotional, and Spiritual Journey with Her Child with Medical Complexities by Emily K Whiting on Amazon
We kindly ask that you share this podcast with other families who might benefit from our insights and support. Additionally, please take a brief moment to leave a review on your preferred podcast platform, which helps us to reach as many families as possible who are navigating this challenging journey, so they can find our support circle and access the assistance they rightfully deserve. No one should walk this journey alone.
To get more personal support, connect with us directly at:
https://parentempowermentnetwork.org
Facebook: Parent Empowerment Network
Instagram: ParentEmpowermentNetwork
Join the Parent Empowerment Network Community of Hope
Get your copy of She is Charlotte: A Mother’s Physical, Emotional, and Spiritual Journey with Her Child with Medical Complexities by Emily K Whiting on Amazon
Whether you've just been blindsided by your child's diagnosis or you've been in the trenches of their complex medical needs for a while, Empowered by Hope, is here for you, Though we wish you didn't know this heartache. We're so glad you found us so together we can walk this journey in hope.
Speaker 1:Hello everyone, welcome back to Empowered by Hope podcast. It's your co-hosts, ashlyn and Emily, here today, and you might be noticing some extra pep in my voice compared to normal Listening to some of our episodes. I apologize, I think I get a little monotone sometimes, but anyway, what matters today is we have yet another really incredible, gigantic, impact story we get to share with you today, and today's story features none other than triple black belt, whatever is above black belt advocate, momvacate, superhero, wonder woman, my idol, emily. Today, because what you are about to hear is actually I'm kind of getting chills again and even though we've been talking about this, I'm starting to feel kind of emotional. All I'm going to do to tee you guys up today is to tell you that it was literally three years ago this past weekend. Emily, I don't know if you realized that.
Speaker 1:It was three years ago this weekend that we got together for the first time in Northern Indiana and we put our our mom heads together and that's crazy, I know it's been three years and we knew that we had to do so much. There was so much more that we could do to help parents and families that were navigating these journeys with their children of medical complexities, challenges, craziness, all the things and we knew that we could help them on their journeys, that nobody should be doing this alone and nobody should be floundering like both of us had, and we wanted really, I think, everybody to experience what you and I have by having each other in one another's lives and in our kids' lives. My daughter's, Emery's life is so much better for having you in it because of your support and helping me advocate Like well, that right there is worth everything right, like literally.
Speaker 1:I mean, you've helped me advocate her to the best quality of life possible right now, and it's amazing, and I wouldn't have been able to do that without you.
Speaker 3:Yes, you would have.
Speaker 1:Just might have been a little longer journey A lot bumpier, a lot more Ashlyn, frozen in a white jacket. But I just want to share this one little story from that weekend in Fort Wayne. I was stir crazy with my ADHD, so I was like I have to get outside, I cannot sit anymore. So can we go walk? So we were walking and talking and I remember saying to Emily I don't know how it's going to happen, but someday we're going to meet more Charlottes. We're going to meet more Charlottes.
Speaker 1:You are not going to be alone anymore, wondering like someday we're going to find out what Charlotte has, because other than you know Charlotte syndrome, which is still the perfect name. You know, you didn't know what she had there. Nobody did. She was a total conundrum miracle, but conundrum. And I just remember saying, like we're going to find others out there. They may not be in America, they might be around the world, but it's going to happen. And y'all, it happened. But more than that, incredible things have taken place since that. So let me toss it over to you. My fearless leader and my amazing friend who I adore, please, please share what is happening in the Heart of Car community friend who I adore.
Speaker 3:Please, please share what is happening in the heart of car community Gosh. Well, with that introduction, I don't know that I'm a, I don't know that I'm quite all that Ashlyn peps me up to be, but she's more, she's more, yeah, so. So, charlotte and you can go back to episode 21 to hear I know the exact number of the episode because I have since shared it with any family who comes to me saying we found you and we have heart of card too, and I say go, listen to episode 21. So that's where I share. When we learned the news that we have heart of card. So for the first five years of Charlotte's life, we just knew that we had a whole slew of diagnoses and we had surgery after surgery after surgery and every system was involved, but we had no idea what the uniting diagnosis was. So I called it the rare, undiagnosed no man's land. Because even though you can connect with, you know, the cardiac community, the urology community, the, you know, fill in the blank for any system, it still feels like no man's land when nobody really understands the comprehensive undertaking. That is enormity of what Charlotte has.
Speaker 3:But that all changed when I got a call from our geneticist and I remember literally slinking to the floor on my knees and just sobbing tears of relief, overwhelm, what the H-E-L-L, all the things? When I got the news that she in fact does have a diagnosis and it's called heart of car syndrome. And get this people, there's a whopping nine in the world not US in the world identified with it and not all nine, unfortunately, were still with us. And so that started this whole journey. But one of my first questions to our geneticist was who in the world, in the medical community, knows anything about heart of car? Right, who do I go to? Who actually has managed more, know has managed more than one heart of car patient?
Speaker 3:And so he pointed me to Dr Alana strong and tip little insider tip for all of you, it sounds really obvious once I say it, but if you haven't thought of it, you just haven't thought of it. If there's research papers out there about your rare disease and you look at them who wrote them, and you find the common link of like this name is on multiple papers, then it's highly likely they're going to know something or know who to go to. So anyway, that was Dr Alana Strong Got connected with her. I can't say enough amazing things about her. She is just phenomenal from the inside out and she had serviced I don't remember how many by then, but I want to say like two heart of car patients. So she was the world expert.
Speaker 1:So laughable. I know these are staggering statistics.
Speaker 3:Oh my gosh so anyway, she and I connected and she walked me through the implications of heart, of car and all the things. And then this was not an intentional thing, but organically we just in Charlotte's Hope Foundation posts, started hashtagging hard to car. Actually, it was your idea. You started hashtagging bladder extra fee because that's what your daughter has, and you um hashtag hard to car. And over the course of what, like the last year, 10 or 11 new families have surfaced from around the world. So now there is a sample population of 21. And I'm sure there are many more out there. Part of it is that genetics testing is just now catching up to finding this disease, so I'm sure there are others out there like us who were in the no man's land and eventually will be found. You're raising your hand like we're in school.
Speaker 1:Yes, Ashley, I was trying to be subtle. Emily, remind me how many times I think it's important for people to hear how many times did you guys actually do genetic testing on Charlotte? Because that's the key point is, obviously this information wasn't available when she was born, and so keeping your eyes out for the test to expand is probably good knowledge to have. That it's not necessarily a one and done with the genetics test.
Speaker 3:Yes, that's a really good point. So we did it when we were pregnant. We did it with a. What do you call it when they use that really long?
Speaker 3:needle the synthesis thing, amniocentesis, which that's a whole nother episode for a whole nother day. So we did that and all those came back saying she is perfectly developmentally typical, which absolutely obviously was not the case. And then in the NICU they did the whole exome sequence, which at the time was like the latest and greatest. And then, and that came back, actually it showed the genetic variant that would lead to heart attack. But at the time science hadn't caught up to know what that actually meant. So they said you know, we saw this variant, but we don't know what it means. And so then five years go by and genetics said well, let's go ahead and do this whole genome sequence because it has, you know, increased in its findings and and geneticists have coached me that about every two years it's worth rerunning things because science catches up. So we had done it probably at least once when she was two or three, and then we did it again when she was five. And another thing, just little tip if anybody is having a hard time getting genetics testing covered, let me know, because I know of a program in Cleveland that helps with that. Okay, because a lot of times insurance doesn't cover it Anyway. So when she was five they redid it with the whole genome and that's when they found this. So I got connected with Dr Alana Strong.
Speaker 3:One thing happened after another. At the time there were two research papers out about Hardikar and they shared a lot of information, but a lot of it we already knew with Charlotte's challenges, but we kind of just kept hashtagging. I ended up making this was on the side from Charlotte's Hope. I made a Hardikar Syndrome group on Facebook and people would trickle in and it got to where, like at least once a month, we'd have a new family reach out to us because they discovered us from Empowered by Hope and from our posts that hey, this mom has a child with heart attack. And they'd connect and it's people from London, ireland, Africa, south America, somebody actually from right here in Ohio saying, oh my gosh, I thought I was alone this whole time. And now I find there's actually a community. Here's where it's really cool, that all is phenomenal and massive. And now we've started meeting regularly on Zoom, supporting each other, bouncing ideas off each other, which is phenomenal. I was just texting with a mom this morning about some ideas for surgery.
Speaker 3:But, what was amazing, I connected with Dr Strong after she just published the third paper on heart attack and she said because of you and Charlotte's Hope Foundation gathering these people which again was not on purpose, it just happened she was actually able to have a sample size to do a research study which discovered some really pivotal things that are going to help our girls Heart of Car only affects girls or presents itself in girls to help our girls be able to have longer life expectancy and to have better quality of life a bunch of genetic jargon which I can't even repeat anyway. Bottom line just really learned a lot about their artery system and why it doesn't do what it's supposed to. And now the next phase that Dr Strong is working on is okay. Then what can we do to treat it? To really help prevent some of the symptoms that have or issues that have led to the passing of other patients, the symptoms that have or issues that have led to the passing of other patients, and so phenomenal. Yeah, and on top of that, that was one finding among many.
Speaker 3:Unfortunately, I think Charlotte's like one of the most extreme cases of heartache, but it was really helpful. She already had this treatment plan outlined of like with each system. Here are things that every child identified with heart attack needs to be screened for, and here's the frequency it needs screened. And she was able to further develop that to say, oh, now we know about this issue, so we need to screen this too, and now we know about that issue. So, um, and it's a phenomenal resource because now we can go to all of our specialists, hand them this one sheet of paper and be like, okay, make sure we check the boxes that are relevant to your specialty. So those two things are massive.
Speaker 3:But wait, there's more. Thanks to Dr Strong, there is a plan in motion to get these families together along with Med 12, which is like the overarching I'm going to totally butcher genetics terms. So sorry, dr Strong, if you're listening, but it's the overarching. I'm going to totally butcher genetics terms. So sorry, dr Strong, if you're listening, but it's the overarching genetic variance that also affects boys and has a very different way of presenting itself.
Speaker 3:Bottom line is they're related Med-12 and HARTICAR and so she's gathering us all next fall at CHOP to be able to get together, to know we're not alone, to get second opinions, to talk about next steps, probably, what needs research next, all those fun things. So it's been a wild journey, an incredible journey and one that really has been very organic, and I'm going to give all the praise to the Lord that he has just led us, one step at a time, and this ball just keeps rolling and who knows where it's going to lead, but it has been. The impact already has just been phenomenal in terms of you know, these 21 families and being able to feel like we're not alone and others have gone before us and we can do this.
Speaker 1:All right, emily, I want to ask you a question. So I vividly remember laying on my couch when you called me and you were like so I got a diagnosis for Charlotte. Today and I'm sitting here drinking my wine I'm sorry what and um, you know I I'll never forget that moment, but I remember you and Daniel. It seems like you kind of went through or were in this space that you're like okay, it's great, we have a diagnosis, but it really doesn't change anything, it really doesn't make a difference. I'm curious now, knowing what we know, do you still feel that way?
Speaker 3:we know, Do you still feel that way? So I remember feeling that way and it's yes, and so receiving a diagnosis and many of you who are listening are probably going to nod, going like yeah, I hear you, it doesn't change all the hurdles we're facing. It doesn't change Like it's not. You know, sometimes it can be built up in our heads that, oh, if I get a diagnosis, things will get much better. And I think that was like my self-protection way of knowing like, okay, we have a diagnosis, that's great, that's going to help. In some ways it doesn't take away the fact that we have this whole slew of challenges ahead of us. And it also changed like in some ways it changes nothing. In other ways it changes everything, and what I mean by that is like now I'm not alone. That's massive.
Speaker 3:Um, not that I wasn't alone.
Speaker 3:I had you and I had others who have walked this medically complex life, you know, with other challenges.
Speaker 3:But you know as well as I do like talking to somebody with BE is different than talking to me, Right Cause I don't really know all the ins and outs of BE, and so that piece of not being alone and then the other piece is feeling much more equipped and not so in the dark, when I'm meeting with specialists and just like treating as symptoms come up, to be able to say, actually we know something about what she's dealing with.
Speaker 3:I'm sure we don't know at all there's only three research papers and 21 people in the world but we know something and so it really helped to be able to be much more proactive with how to manage her care. And that was a massive weight off my shoulders because I felt like it was really on me to observe everything, keep up with everything, make sure that we were screening for all the possible issues. And now it's like oh, now I have a sample size of 21. That helped me know what to watch for and how to treat it. So, yeah, in some ways it changes nothing. In many ways it changes everything, which?
Speaker 1:probably makes no sense to some. No, actually, I think it makes a lot of sense. And I was just. I just realized I hadn't asked you that, that follow-up question, because we hadn't really talked about it since then.
Speaker 1:It also seems like having that. So I mean, obviously I've just been a peripheral support role on your extensive journey, but it seemed like for so long, like every time she would have something you know, to face with a different body system. It was. It was kind of almost like doctors were like okay, it was almost like they still failed to see how everything was connected. They're like we know she has all of these issues, but are they necessarily all like? Do they impact one another? And I feel like that's what you were screaming for so long is, if we touch this, this affects that and that affects this, and every single time we do something, there's a domino effect. And it almost seems like having a diagnosis that explains all of these things are part of this syndrome. It almost kind of helps make it that much more clear that, yes, everything needs to be treated for the whole body, like addressed from the perspective of the whole body, not just her kidneys, not just her heart, because it is all related.
Speaker 3:Yes.
Speaker 1:And you had to fight so hard for that. And I was just always amazed, and I mean hated, how much you had to fight for it, honestly, but have you, am I, am I anywhere close to that?
Speaker 3:being right, like it's, like you're nailing it. Yeah, because I'm sitting there. You know, I've been to all the specialist appointments I've, I've gone through all the surgeries with her. All of you listening are like yeah, yeah, you as the parent, you see the whole child and how it all interplays. And when you go to these subspecialties they're really, really good at the subspecialty they do.
Speaker 3:But to zoom out and see the bigger picture, I find myself, even to this day, still always saying but if we do this in this system, it's going to affect that system, and a lot of times I'll get pushback from the specialist saying no, no, that's not related, it is in my child and I need you to listen to me and that is a really, really big piece. The other piece of having a diagnosis while it, you know, like it doesn't change the fact that you're still going through all these hurdles, but it does start speaking the language of the medical community and it allows you to, in this very weird I don't really understand it intangible way. It like it validates and unifies all the things you've been facing and helps a doctor to be able to to assess their piece in the bigger pie and the other thing it does, which was kind of a surprise to me. It's not so much with heart attack because it's so rare, but I think with other diagnoses it helps you qualify for things because now you're not just a child with a whole slew of medical challenges. You are a child with heart attack, you are a child with blah, blah, blah and as much as I don't like that's the case, that's how you get qualified for a lot of different things is having a diagnosis, which I like to buck the system Shocker. I don't love that. I hate that you have to have a diagnosis to validate the need for things, but unfortunately that's just the way things are set up a lot.
Speaker 3:So if anybody's listening to this and you are in that rare, undiagnosed, no man's land, I want you to please reach out to me, because I've lived it for a long time and I know many of you have lived it for even longer and it is so lonely and even, like you know a lot of the resources that are out there to help parents who have children with complex needs. Like you have to have a diagnosis to find the right resources and it's just, it's a vicious circle. So, um, I want you to reach out. It's at contact at charlotteshopefoundationorg, or you can find us on Facebook or Instagram.
Speaker 3:Dm me, whatever. Connect with us. You are not alone, you know. Start listening to these podcasts, follow us, um, because I think that is that is the beauty of the two of us, united in this mission, ashlyn is we came from different backgrounds, where you had a diagnosis right away and I didn't for quite a while, and that, combined, is a really powerful set of experiences to be able to service a whole slew of different diagnoses and lack of diagnoses, to service a whole slew of different diagnoses and lack of diagnoses, right, 100%.
Speaker 1:Well, I'm going to leave everybody with a tip. I just thought about this. If you are hearing this and thinking I really feel like my child needs to get genetic testing, but if you are in a position that insurance is not helping you cover it, there is an organization that we're aware of called Rare and Undiagnosed Network and they are doing work to help families be able to get the genetic testing that they need for their children. So, again, that is Rare and Undiagnosed Network. You can find them online. They go by RUN. I'll make sure that we drop that in our show notes, but that's a great resource to look into if you need help being able to get that testing done for your child.
Speaker 3:Yes, absolutely Absolutely. And if you still have trouble getting it, reach out to me, because I think I know of a few people I could put you in touch with who can help you. I'm not, I don't remember them all off the top of my head, but I have a document, so call me, text me, dm me, whatever.
Speaker 1:Call us. We know somebody, or we'll know somebody who knows somebody.
Speaker 3:We'll just keep going.
Speaker 1:We're really good at bunny trails, ashlyn and I. We're so good at them. All right, everybody. Well, thank you for joining us today. Emily, thank you for sharing yet again. I'm never going to tire of this story and I just, once again, I just love so much how this just shows. I don't care how small a number there are, facing you know, a medical challenge, diagnosis, or, you know, not diagnosed. Each child is their family's entire world and deserves to be treated like they are the most important person in the world, and that's why we always say we are not diagnosis specific. We're here for all of you and we're all here to do this together. So, all right, thanks for joining us. Stay tuned for more. Bye-bye.
Speaker 2:You are capable, you are equipped and you are not alone. Together, we can do hard things for our children. If this episode connected with you and you want to hear more, be sure to hit the subscribe button. We would also love to learn about your personal journey and how we can support you. Reach out to us at contact at charlotteshopefoundationorg. And, last but not least, if you know of someone who could benefit from this podcast, please share when hope is buried.
