Rare Disease Parenting and the Power of Community w/ Effie Parks

Receiving a rare genetic disease diagnosis for yourself or a loved one is devastating news, especially when the diagnosed is a child.

For families, navigating the challenges of these diagnoses requires more than just medical care, it takes a strong, compassionate support system.

In this episode of CareTalk, David E. Williams and John Driscoll sit down with Effie Parks, advocate and host of the Once Upon a Gene podcast, to dive into the critical role of community during a rare disease diagnosis and the strong support system that has developed around parenting those afflicted.

This episode is brought to you by BetterHelp. Give online therapy a try at https://betterhelp.com/caretalk and get on your way to being your best self.

As a BetterHelp affiliate, we may receive compensation from BetterHelp if you purchase products or services through the links provided.

TOPICS
(0:36) Sponsorship
(1:52) Welcome Effie Parks
(2:31) Effie Parks' Journey into the Rare Disease Community
(4:31) Why Effie Parks Started Once Upon a Gene
(6:18) Advice to Families in the Rare Disease Community
(7:12) Grappling with Grief and Guilt
(10:45) Understanding Why We Experience Guilt
(12:18) Examining Healthcare Policies That Impact Rare Diseases
(14:43) How Healthcare Professionals Can Be More Sensitive to Families
(16:27) Building a Supportive Rare Disease Community
(18:19) Advice for Government Agencies When Approaching Rare Disease Policy
(20:09) Engaging Patients and Families in Healthcare Policy
(20:50) How the Entire Healthcare Ecosystem Can Become More Involved
(22:46) Creating a Virtual Event for the Rare Disease Community
(24:20) Areas of Hope in Rare Diseases

🎙️⚕️ABOUT CARETALK
CareTalk is a weekly podcast that provides an incisive, no B.S. view of the US healthcare industry. Join co-hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they debate the latest in US healthcare news, business and policy.

🎙️⚕️ ABOUT EFFIE PARKS
Effie Parks has become a leading voice in the rare disease community after her son Ford’s diagnosis with CTNNB1 syndrome. As the host of the award-winning "Once Upon a Gene" podcast, Effie combines powerful storytelling with resource-sharing to support families navigating rare genetic disorders. She extends her advocacy through speaking engagements at medical and advocacy conferences, where she works to bridge gaps between patients, families, and healthcare stakeholders. Driven by a mission to foster understanding and resilience.

🎙️⚕️ ABOUT ONCE UPON A GENE
The Once Upon a Gene podcast is a heartfelt and informative show dedicated to families and individuals impacted by rare genetic disorders. Hosted by Effie Parks, a passionate advocate and mother of a child with CTNNB1 syndrome, the podcast explores the unique challenges and triumphs faced by the rare disease community. Through candid interviews with patients, parents, medical experts, and advocates, Once Upon a Gene offers invaluable resources, insights, and a sense of solidarity for listeners.

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Transcript

0:00

When your child is diagnosed with a rare genetic disease, it's easy to feel overwhelmed with questions and uncertainty. But in the face of the unknown, community support and patient advocacy can be lifelines, helping parents build resilience, find answers, and connect with those who truly understand the journey. Today's guest is a guiding light in the world of rare disease advocacy. Hi, everyone. I'm David Williams, president of Health Business Group. And I'm John Driscoll, senior advisor at Walgreens. Well, before we begin, I'd like to take a moment to thank our producer, Vincent. He always makes us sound smart and look good. And that's not easy. This month is all about gratitude. And along with Vincent, there's another person we don't get to thank enough, ourselves. It's sometimes hard to remind ourselves that we are trying our best to make sense of everything. And in this crazy world, that is not easy. Here's a reminder to send some thanks to the people in your life, including yourself. BetterHelp offers entirely online therapy that's designed to be convenient, flexible, and tailored to fit your schedule. Just fill out a brief questionnaire to get matched with a licensed therapist and switch therapists at any time for no additional charge. It's helpful for learning positive coping skills and how to set boundaries. It empowers you to be the best version of yourself. So whether you're dealing with stress, anxiety, or just seeking personal growth, BetterHelp connects you with licensed therapists who can support you on your mental health journey. Let the gratitude flow with BetterHelp. Visit betterhelp.com slash care talk to get 10 % off your first month. That's betterhelp, H-E-L-P dot com slash care talk. Well, today's guest, Effie Parks is a prominent advocate in the rare disease community and host of the Once Upon a Gene podcast. Her personal journey sparked by her son Ford's diagnosis with CTNNB1 syndrome has led her to help families navigating similar challenges. Effie Parks, welcome to Care Talk. Hello, thank you so much for having me. I'm excited to be here today. And we're grateful for you. In addition to David grudgingly giving gratitude with our producer, Vincent, we are very grateful for you and the advocacy that you're bringing to sort of... parts of the healthcare system that aren't getting necessarily the attention and support. So perhaps, Effie, you could tell us kind of how you got here. Like, how did you go from being a sort of a passenger to sort of one of the leaders in this movement? I'll give you as short a version as possible because it's very big and deep. Eight years ago, I gave birth to my son, Ford was very small and very sick when he was born and we knew something was wrong with him. We eventually got him genetic testing and he received a diagnosis of CT and NB1 when he was 16 months old. When they delivered that diagnosis to us, they told us that he was the 30th known patient with that diagnosis in the world and that they didn't know anything about it and to go home and love our kid. So that is... a hugely unexpected event that happens when you have this idea in your head about what becoming a parent is going to look like and what your child's going to be like. And the walls sort of come crashing down. And it's a really, really isolating and terrifying time for a family. So that's definitely how it began. To the second part of your question. It was extremely isolating. Having a child with a disorder that no one knows anything about and that no one can help you with really sort of puts you kind of into a spiral of uncertainty. I heard you mention that word. And it's definitely something we all in the rare disease world continue to live with. But especially in those beginning years, think uncertainty is extremely magnified and causes a lot of fear for families like mine. So I eventually decided that I must do something about it for myself and others. You know, we're big fans of podcasts, so we're happy to hear that one of the avenues that you pursued was a podcast. But why did you start the Once Upon a Gene podcast? How did you get the idea for that? And then how has it evolved as you've taken it forward? Well, I can never answer this question without mentioning two amazing human beings. Sean and Kyle host the Two Disabled Dudes podcast and they both live with Friedrich Zytaxia. And when I was in those beginning days and I was searching for anything, social media really wasn't kind of doing what it was doing, what it's doing now with families being on board and online and sharing their stories. Podcasting wasn't cool yet. The pandemic hadn't really happened. So not everyone was super into podcasts. So I was searching everywhere. I was looking for books. I was looking for any sort of content on the internet. And I eventually found these two. And when I started listening to them, I was like, my gosh, these are my people. These are my people. And they just had so much fun and they shared so much of their story in the heartache, but they always ended up finding beauty in it and finding light in it and figuring out how best to react and to respond to stuff instead of letting stuff just sort of take you down. And so I engulfed their podcast and As you know, I'm sure your podcast listeners, when you let someone in that space of yours, I think it's intimate listening to podcasts. When you start listening to someone, so often you really feel like you know them. So when I was finished with their podcast, I emailed them and I was like, hi, Sean and Kyle, you're my friend. I'm Effie. Thank you for changing my life and for showing me that there's so much beauty here and really like throughout listening to them. Speaking, I just knew this was something that I had to do. I knew that I had to make a place for families like mine. So they weren't as alone as I was when my son was diagnosed. So Effie, when you think about that moment of kind of crashing through the glass of your expectations, when you found that you've got some form of rare disease, what's your what's your headline first piece of advice to a family? Find your people immediately. Find community. Find. connection because again, the uncertainty and the isolation piece are going to be constant. So you must find those people who can relate to you, who can see you and just sort of help you bring yourself out of the depths so that you can recognize that there's something that you maybe can do. There is joy that you can recognize and perhaps there's even action you can take and you can't do it alone. especially when you feel unsupported and completely invisible. Beth, you on the recent episode of your podcast, you were speaking with a very experienced genetic counselor and you were putting to her the questions about grief and guilt and how she encounters that with her clients and how to think about it. Can you talk about why, you know, both of those things, grief and guilt were important and maybe just recap part of the discussion? It's been a moment since I've had that talk with Mary Frances Garber. Thanks for bringing up that episode. She's a valuable resource. think we all have to go through sort of this tumultuous emotional sort of journey. I know some don't, but I think it's really important to recognize all of that stuff that comes up for us, especially in the beginning, because I think if you skip it, you can really... get stuck and you can make yourself sick and you can just really prolong any chance of healing that you have. So a lot of things that come up right away when your kid's diagnosed, guilt, guilt over lots of things like, did I do something wrong? Did I not give them enough therapy? Why can't they walk? All of those things. mean, the guilt about what our kids can and can't do and... what's happening to them, think is also one of those constants that you have to just give yourself grace on. And you have to have compassion for every piece of this because it's so difficult to navigate. And the grief, the grief is interesting. I didn't actually ever know that I could use that word grief until I listened to a book called, It's Okay to Not Be Okay. And in that moment, That was such a relief for me because I thought the word grief was only for people who had died or who were going to die. And when I got to sort of claim that term, it was actually just really freeing to know that my pain and kind of all of that stuff that goes in was that. And I could manage it in a different way. And I could have, sort of some grace and compassion with myself and with the way people in our family deal with it. And it really just kind of helps you put things in perspective. And then it also helps you realize that you can grieve, but you can also feel joyful and that they can coexist. And I think just being able to sort of name these emotions that we have as families who are going through such extreme parenting. is really important and it really helps ground us moving forward. You know, I found the discussion quite profound because grief was something as it was labeled. First of all, it's just helpful to have a label for what it is and the idea that it is a process, a natural process, but it's also tends to be time bound. So it's something you work through, some religions have something that's a certain cycle. You can work through that. Whereas guilt was often mostly self-imposed and actually generally not helpful. and understanding why you're feeling that way and what you can do about it. And then you also talked about trauma after that. So I just thought having some of these labels as opposed to, you know, it's just like, your head is a mess and there's all these things to deal with. I found it to be kind of profound way of, you know, of thinking about the discussion. Yeah, absolutely. David, I actually thought you were going to admit the fact that we're not okay and we don't have these kinds of problems like this. There's a gift that you're giving yourself, Effie, and saying, you know, the imperfection of parenting. But I guess the thing that I think it's hard for folks who've never had a sick kid in the family is to realize that to David's point, that grief is sort of a weight on you. And in some ways, naming it to David's point really at least makes it feel perhaps a little bit more comfortable to handle. Is that the right way to think about it? Yes, I do believe that. and, and you said, you said something there, but what I actually think that is not cool, but really connective in grief is that it is universal, right? So it is one of those other things where people maybe on the outer ring who don't have sick kids can understand to a point, right? like we can all sort of understand that just heart wrenching sort of place. and I think when other people can sort of go there with you. or sit there with you, that sort of comfort and validation is something that really can help you bring yourself out of that too. So I think that it is one of those human connective sort of emotions that other people can understand, even if they aren't going through something like what you're going through with a child. So I wonder, as we're thinking about healthcare policy, you talk a lot about that on this show. If you think about healthcare policies, are there particular policies out there that have an impact for people with rare diseases, either for diagnosis, treatment, how people are looked after? There's a million that everyone is pounding the pavement on at all times. I think one that is super important to me right now is getting a diagnosis. You know, they say it takes up to seven years for people to get a diagnosis, which is just bananas. And lots of excuses around it, like doctors aren't educated about knowing about genetic testing and it's really expensive, which all of that stuff could immediately be myth busted, really. It's so much more affordable now and it should be frontline testing and families shouldn't have to go to the lengths that they go to sometimes to get offered a genetic test. especially in the beginning when it could be so critical to help them find treatments or therapies that could help their kid. So something that I'm really passionate right now about especially is kids who have an autism diagnosis, a cerebral palsy diagnosis, an epilepsy diagnosis. I refer to them as sort of umbrella terms because those are symptoms of something typically. And so why aren't we giving these kids genetic testing sooner than later, if they ever get it at all? Because it's been shown that over 35 % and in some cases with CP especially that maybe over 50 % of people who have that diagnosis actually have a genetic etiology. And so if you knew that, mean, you get, so many doors open up for you in community, in therapy, in having an answer, right? Mental and emotional wellbeing. But also you're going to be joining communities who are out there already helping fight for this stuff. we need these people to know what we're doing so they can join our forces. And so we can see the whole long tail of our diseases. yeah, genetic testing is something I'm super passionate about. And I think that it needs to be frontline testing. Long answer. No, no, it's a great answer. guess I'd like to go a slightly different direction when you think about the health care professionals and the convenient excuses of convention that keep people from kind of moving from kind of the standard, you know, majority diagnosis and recommendations. What's the advice you'd give health care professionals to be a little bit more sensitive and connected than those that initially basically kind of shuffled you since you weren't part of a conventional diagnosis, it doesn't feel like the system dealt with you very well. What's your advice to health care professionals around kind of handling families with these kinds of health care challenges? I would say that you probably know as much about this disorder or less than the family that's in your room. So please listen to them. Do your best to sort of, and maybe just acknowledge that you don't know either because we feel so much more comforted and safe and just, we have so much more trust if you can say that to us, if you really don't, rather than maybe leave us hanging or gaslight us or shuffle us onto the next person. Like we want to know that you're on our team and that you're going to help us figure this out together. Sorry, our guest last week is actually was the author of a book, Medical Gaslighting. So I have that here for you, but. So I was gonna ask you that, you brought it up pretty well. So I appreciate your question, John, about the healthcare providers and then working within your own kind of community. What sort of strategies are effective in building a supportive community for people, for families where there is rare disease present? Well, listen to Once Upon a Gene. because it's a home base. I think that within the rare disease communities, don't have to necessarily only feel connected to the disease specific group that perhaps you or your child has. I think that we are such a united front as the rare disease community that your connection, no matter what the disorder is, is there. Finding people, honestly, really, you can come to Once Upon a Gene and I could probably direct you to anyone or anything if your disease is being worked on. Otherwise, I can help you figure out the tools and resources that you need to maybe create your own. There's lots of different kinds of communities you can find too. So it sort of depends on what kind of person you are and what kind of time you have. There's obviously social media communities, podcasting communities, there's rare disease umbrella groups. There's specific things for maybe what your kid needs, whether maybe you have a child who has a life-limiting disorder that you know there's a date and there's a degenerative component to it. There's orgs for that. I would just say find someone who resonates with you and reach out. Writing a blog, writing a post, telling your story on a podcast like yours or mine, I think that... there's always going to be someone that's out there if you cast your line and you might be surprised who it can connect you to. you went from extrapolating out a little bit, if you could, you know, we're in the midst of an election cycle, if you could give advice to the next head of the FDA, federal drug administration, sort of or NIH, where a lot of the money comes from FDA, which regulates drugs and therapies. and care and NIH, National Institute of Health, which actually invests in these things. What would be the guidance you'd give as an advocate for families and patients with rare genetic disorders? Rare disease needs funding and attention in the most urgent of ways. It is an emergency and it needs to be dealt with with urgency. And the only people taking care of this are It's literally off the backs of families and their kids and parents like me who are raising money instead of being home with our children to then give it away to researchers so they can help us. We're literally helping to create the science and create treatments and there aren't institutions that are necessarily completely showing up in a way that they should and that they could. I would say that rare disease is... absolutely a health emergency. And there are more people with rare diseases than what was HIV and cancer combined. We must address it. And there are no better partners that you could have to help this go through than the families that their entire lives depend on it. I think John was asking that question because depending on who the chief executive is, he's hoping to be the head of the FDA or the NIH. Not at all. just I do I do think, though, that engaging patients and families is one of the areas where the health care system in general, if you're going to make an argument that every that health care is more of a team sport and it's not not the way it's treated right now. And families of patients are part of the team. 100 percent is a team sport, especially when you're talking about rare disease, you know, going back to the matter that. The families are the experts in the diseases that our kids have. And so we're absolutely a stakeholder and have to have just as much of a seat at this table as anyone else because we know everything that there is to know about it, period. You make a good point when you talk about rare disease compared with, let's say, cancer or HIV, that rare diseases are very common or they affect a lot of people, just not each individual one. And so it's sometimes when it sounds like rare, it sounds like it's out on the fringe, but that's actually a lot of what people are dealing with. And to your point about the long time for diagnosis, there's many people out there on the diagnostic odyssey at any given time. You've explained what you think government should do in terms of FDA or NIH, whether or not John is running it and healthcare providers. What about others in healthcare, administrators, payers, investors? any others in the healthcare ecosystem that should be more involved or find ways to help? I mean, this has so many branches and arms to it, right? But I think the situation with payers is really difficult. We actually do have a rare disease consortium here in Washington, which is great. I would love to see that happen in every state, so it could be more of a state issue. So we could be talking about this more. Maybe we change the words from rare disease eventually. Maybe that's sort of what's hindering our population. I don't know. It very possibly could be, right? Because why would we help only so many? But yeah, I mean, think state by state, it would be great if we could sort of all have these groups, these rare disease groups that are involved in policy and that really help to educate the families and all the stakeholders, like the payers, like everyone. it's hard to get those off the ground. And again, typically it's families doing that, right? So there's only so much bandwidth and only so many people who have the ability to sort of bring those things out and like have them be put on sort of state issues because it isn't being noticed by anyone in power. I want to ask you about something that you're hosting in January. I noticed a virtual wellness day that is, I think you're hosting toward the end of January. sometime after the inauguration. What's that about? Have you done that before? No, I haven't. It's always sort of been something that has been a part of my wish list for Once Upon a Gene is to have in-person events. So I'm going to test one out virtually. You know, it stems from this whole journey of being a rare disease parent and this life cycle of our grief and our trauma and our guilt and our emotions. I don't necessarily think that I don't love sort of the energy that I've been seeing through social media from it. And I kind of want to help offer a few more tools to families that are accessible and that are free and that are easy in ways that we as caregivers can take care of our mind and bodies that isn't just going to a therapist and having the ability and the access to go to a therapist and the time and that there are lots of other ways. that we can sort of hone on our own to help our mental and physical health and help us just be happier and healthier caregivers. Community is part of that, but we're also just gonna have some fun and it's gonna be sort of a lighthearted, hopeful breath of fresh air in sort of the conversation around how we are doing. Great. John, last question to you. I just would say, Effie, that the other thing I think we need to underscore to our listeners is that we're going through a revolution of information about genetic disorders, about the personalization of healthcare, and that this is an area of hope, progress, and we're almost on the cusp of a revolution here. We've seen it in cystic fibrosis, where I've got personal experience, where the advocates were the parents, the parents got involved in research, research has made it not. but a lifelong manageable disease where it was a death sentence. So I just would say in addition to the power of your advocacy, couldn't be coming at a more important time for parents, but also, and I think we're in the cusp of revolution of information around genetic disorders, which will then I think put us in a much better position to be curative. And so I just wanted to underscore that positive as we're talking through the burden. and the grief, I also want to talk about the possibility of progress right now. yeah. mean, it couldn't the brighter days are actually feeling brighter. And these rare disease organizations are moving mountains. mean, it's amazing. And obviously, you know, with cystic fibrosis, which has been such a great roadmap for many of us. And things are in the pipeline for so many of us, CT and MB1 included. And I know that the next few generations of CTNM1, I hope they never even know that we all existed because there will just be something there that the doctor offers them. And they will think like we used to think that there was always someone behind the curtain just taking care of things. And I hope that same thing really actually happens for that family in 20 years. Well, that's it for another episode of Care Talk. Our guest today has been Effie Park. She's patient advocate in the rare disease community and host of the Once Upon a Gene podcast. I'm David Williams, President of Health Business Group. And I'm John Driscoll, Senior Advisor at Walgreens. If you like what you heard or you didn't, we'd love you to subscribe on your favorite service. And Effie, thank you so much for joining us. Yes, it was my pleasure. Thanks, David. Thanks, John. And thanks for having these important conversations.