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 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.
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Episode Transcript:
David E. Williams: 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.Â
John Driscoll: And I'm John Driscoll, Senior Advisor at Walgreens.Â
David E. Williams: 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, safe, and effective.
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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 navigate similar challenges. Effie Parks, welcome to CareTalk.
Effie Parks: Hello, thank you so much for having me. I'm excited to be here today.Â
John Driscoll: And we're grateful for you. In addition to David sort of 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 health care system that aren't getting necessarily the attention and support.
So perhaps if you could tell us kind of how you got here, like, how did you go from being a sort of a passion to show to 1 of the leaders in this movement?Â
Effie Parks: Cool. I'll give you as short a version as possible because it's, it's very big and deep. Eight years ago, I gave birth to my son Ford. 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 huge, hugely unexpected event that happens when you, when you have this idea in your head about, 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, 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, I think uncertainty is.
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.Â
David E. Williams: You know, we're big fans of podcasts. So we're happy to hear that one of the avenues that you pursued was upon a podcast, but why did you start the, you know, 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?Â
Effie Parks: 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's ataxia. 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, Oh my gosh, these are my people.
These are my people. And you know, they, they just had so much fun and they shared so much of their story and the heartache, but they always ended up. finding beauty in it and finding light in it and figuring out how, 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, 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 I 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.
John Driscoll: So Effie, when you think about that moment of kind of crashing through the glass of your expectations when you found that you got some form of rare disease. What's your, what's your headline first piece of advice to a family?Â
Effie Parks: 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, 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.Â
David E. Williams: If 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.Â
Effie Parks: 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. I think, I think we. I think we all, 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?
You know, did I not give them enough therapy? Why can't they walk? All of those things. I mean, the guilt, About what our kids can and can't do and what's happening to them I think is also one of those constants that you have to just give yourself grace on And you have to have compassion for 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 the word grief until I was a kid I listened to a book called It's Okay to Not Be Okay. And in that moment, that was, 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, And, and kind of all of that stuff that goes in was that, and I could manage it in a different way.
And I could, you know, have, have again, 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.Â
David E. Williams: You know, I, 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, 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 know, you know, work through, you know, some religions have something that's a, 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 are you feeling that way and what you can, 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 it's all your head is a mess and there's all these things to deal with. I found it to be kind of profound way of, of you know, of, of thinking about the discussion.
Effie Parks: Yeah, absolutely.Â
John Driscoll: 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, there's a, there's a gift that you're giving yourself F. E. and saying, you know, like the, the, the imperfection of parenting. But I, I, I, 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, is, is, it's sort of, it's 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, to think about it?Â
Effie Parks: Yes, I, 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, you know, heart wrenching sort of place. And I think when other people can sort of go there with you or sit there with you, that 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.
David E. Williams: So I wonder, you know, as we're thinking about healthcare policy, talk a lot about that on, on this show. If you think about healthcare policies, are there particular policies out there that have a, an impact for people with rare diseases either for, you know, diagnosis, treatment, how people are, are looked after.
Effie Parks: There's a million that everyone is pounding the pavement on at all times. I think, 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. Wow. Yeah. 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 percent of people who have that diagnosis actually have a genetic etiology. And so if you knew that, I mean, you get, you, so many doors open up for you. In the community, in therapy, in having an answer, right?
Mental and emotional well-being. But also you're going to be joining communities who are out there already helping fight for this stuff. And we need, we need these people to know what we're doing so they can join our forces. And so we can see like the whole long tail of our diseases. So, Yeah, genetic testing is something I'm super passionate about.
And I think that it needs to be frontline testing. Long answer.Â
John Driscoll: No, no, it's a great answer. I 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, and, and, 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, your kid didn't have a conventional diagnosis. It doesn't feel like the system dealt with you very well. What's your advice to healthcare professionals around kind of handling families with these kinds of, of, of, of healthcare challenges?
Effie Parks: I, 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 and 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.Â
David E. Williams: Sorry, our guest last week is actually was the author of a book, medical gaslighting. So I have that here for you, but we're working on that. So I was, I was going to ask you that, but you but you brought it up pretty well.
So well, you know, I, I was, I appreciate your question, John, about the healthcare providers and then working within the own, your own kind of community. What sort of strategies are effective in building a supportive community for people you know, for families where there is rare disease present?Â
Effie Parks: Well, listen to Once Upon a Gene because it's a home base.
I think that within the rare disease communities, you don't have to. You 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, I honestly, really, you could 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 is rare disease umbrella groups. You know, there's, there's specific things for maybe what your kid needs, whether maybe you have a child who has a like a life-limiting disorder that, you know, there's a date and there's, there's a, there's a degenerative component to it, like there are orgs for that.
I would just say find someone who resonates with you and reach out by writing a blog, writing a post, telling your story on a podcast like yours or mine. I think that there's always gonna be someone that's out there if you cast your line and you might be surprised who it can connect you toÂ
John Driscoll: if you would, 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 that, that, that sort of, or, 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?
Effie Parks: 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, is absolutely a health emergency, and there are more people with rare diseases than what with 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 are, their entire lives depend on it.Â
David E. Williams: I think John was asking that question because depending on who the next chief executive is, he's hoping to be the head of the FDA or the NIH.
John Driscoll: So, well, I just, I do, I do think though that engaging patients and families is one of the areas where. In the healthcare system in general, Effie, you're, you're kind of making an argument that every, that, that, that healthcare 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.
Effie Parks: A hundred 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, in the diseases that our kids have. And so we're absolutely a stakeholder and have to have just as much as a. of a seat at this table as anyone else because we know everything that there is to know about it, period.
David E. Williams: You make a good point when you talk about rare disease compared with, let's say, cancer, HIV, that, you know, 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, I think you've made it you've explained what you think government should do in terms of FDA or NIH, whether or not John is running it and have health care providers. What about others in health care administrators, people, you know, payers, investors, any others you know, in the health care ecosystem that should be more involved or find ways to help.
Effie Parks: I mean, this, this, this has so many branches and arms to it. Right. But I think, I think. I mean the situation with payers is really difficult. We actually do have like a rare disease sort of consortium herein, 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, you know, maybe that's sort of what's hindering our population. I don't know. It very possibly could be right. Cause why would we help? Only so many. But yeah, I mean, I think, I think state by state, it would be great if we could sort of all have these, these groups, these rare disease groups that are involved in policy and that really helped 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 the state.
David E. Williams: 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, of January sometime after the inauguration. What, what's that about? Have you done that before?Â
Effie Parks: No, I haven't. It's always sort of been something that has been a part of my, my wish list for Once Upon a Gene is to like 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. And 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 wanna 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, 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, 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 going to have some fun and it's going to be sort of a lighthearted, hopeful breath of fresh air in sort of the conversation around how we are doing.
David E. Williams: John, last question to you.Â
John Driscoll: Oh, I just, 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 health care, and while that, and that there are, this is an area of hope, Progress.
And we're, we're almost on the cusp of a revolution here. We've seen it in cystic fibrosis stroke, a personal experience where the advocates were the parents, the parents got involved in research. Research has made it not curative, but, but a lifelong manageable disease where it was a, it was a death sentence.
So, I just would say, in addition to the power of your advocacy, it couldn't be coming at a more important time for parents. But also, and it's, I think we're, we're on the cusp of a 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, we're talking through the burden and the grief. I also want to talk about the possibility of progress right now.Â
Effie Parks: Oh yeah. I mean, it couldn't, the brighter days are actually feeling brighter. And. These rare disease organizations are moving mountains.
I 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 MB1, I hope they never even know that we all exist. 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.
David E. Williams: Well, that's it for another episode of Care Talk. Our guest today has been Effie Park. She's a 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.Â
John Driscoll: 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.Â
Effie Parks: Yes, it was my pleasure. Thanks, David. Thanks, John. And thanks for having these important conversations.
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CareTalk is the only healthcare podcast that tells it like it is. Join hosts John Driscoll (Senior Advisor, Walgreens Health) and David Williams (President, Health Business Group) as they provide an incisive, no B.S. view of the US healthcare industry.
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