Mapping a Perilous Journey with Humor

Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey that a family undergoes when seeking a diagnosis a rare disease, a humorous answer to the orderly way organizations typically portray the experience. We spoke to Parks about her experience with the diagnostic odyssey for her son Ford, her version of the map to a genetic diagnosis, and what organizations usually get wrong.  Click here to view the map.

Daniel Levine: Effie, thanks for joining us.

Effie Parks: Sure. Danny, thank you so much for inviting me. I’m honored to be here.

Daniel Levine: Well, we’re going to talk about your journey as a mother of a child with a rare disease, your recent efforts to navigate the experience and your effort to map the journey for those who may follow. I’m sure many listeners may be familiar with you as the host of “Once Upon A Gene,” the podcast, but many may be less familiar with how you became a member of the rare disease community. When was your son Ford born and how did you or his pediatrician come to suspect he might have a rare disease?

Effie Parks: Sure, I will box this up as neatly and as short as possible because I’m sure there’s lots of diagnostic stories people have heard. Ford was born in 2016 and he was born on his due date—actually a couple days before he was due. I was in my midwife’s office and she looked at me horrified and told me that we must induce that night. I didn’t really understand anything that was happening as far as I knew. I thought everything was perfect and I honestly wasn’t even that concerned about it. I came to find out later that he wasn’t growing. He had something called inner utero growth restriction, which is what she saw there—another episode of how that wasn’t brought to my attention, but Ford was born on his due date and he was very small. He was five pounds two ounces and he wasn’t eating at all. He didn’t eat, and I was in the hospital for four days and then sent home with a bunch of equipment to try to get him to eat. Anyway, right away, my husband and I knew that something wasn’t right with Ford. We were taking him in two times a week to lactation specialists and our pediatrician, begging for help and telling them that something wasn’t right and something wasn’t normal, and we continued to get the brush off that we were just new parents and that he would eat and we would figure it out. Meanwhile, he wasn’t, and he wasn’t sleeping, and it was a giant tornado of doom until his four month appointment. Our pediatrician looked at me and said, I’ve called Seattle Children’s and they’re expecting you. I agree. Something is wrong with Ford. So that was sort of the beginning of how that all started. Then he was in-patient for a while and I heard all the terms that I now use in everyday language, and he was sent home with a feeding tube and I was told again that he would probably eat when he gained weight. Ford was very, very, very white. He didn’t have any hair. His eyes were like, see-through and blue. You could see through his skin. We were referred to genetics because they thought he had a form of albinism, so we got lucky. They gave us a whole exome sequencing test and they sent off our blood to Baylor and we got our answer back when he was 16 months old that it was not in fact albinism, but that he had a mutation in the CTNNB1 gene.

Daniel Levine: This was a de novo mutation, which means neither you nor your husband carry the mutation. Is that correct?

Effie Parks: Correct, yes.

Daniel Levine: It seems like Ford received genetic testing relatively quickly, but you waited nine months for the results. What was that waiting period like?

Effie Parks: It was horrible and it’s such a blur. I checked a few months after we sent our blood off and our office actually did not send his sample in yet, so that’s what contributed to the wait time. Otherwise we probably would’ve had it in about four months. That was one of my very first crash landings of learning that I have to follow up and I have to check and I have to be an advocate that things don’t just happen the way they’re supposed to. So it was an important learning lesson for me.

Daniel Levine: How well understood is CTNNB1 and is there a clear progression to the condition?

Effie Parks: Like most of our rare diseases, they’re fairly young, right. The CTNNB1 gene was discovered in 2012, and by the time Ford had a diagnosis in 2017, he was the 30th patient. We currently have 430 now, so we have lots of amazing people working on our gene and trying to understand it. The gene itself plays a crucial role in cell signaling and the regulation of the gene expression, and it impacts various developmental processes, so we don’t have a lot of older children to look toward to really see sort of that natural history of it. Things do progress like our dystonia and things like that, so we really don’t have a clear picture into the future of our kids. I think we do a hundred percent know that it is obviously not a neurodegenerative disorder, so that’s one thing we understand. But yeah, certain features of the disorder, especially depending on how your child’s affected by it, will progress in severity as they get bigger.

Daniel Levine: When you were given the diagnosis, what were you told about the condition or Ford’s prognosis?

Effie Parks: A couple sentences in this order: we found a paper and there are a couple kids who say a couple words and there are a couple kids who take a couple steps and Ford will be severely mentally retarded and he has a shortened lifespan.

Daniel Levine: So, you got a lot of helpful information.

Effie Parks: Yeah, yeah, that was literally all that I was told.

Daniel Levine: CTNNB1 shares a lot of commonalities with cerebral palsy. I know that many people with the condition are misdiagnosed. Is the belief that there are many people who have been told they have CP that actually have CTNNB1?

Effie Parks: Yes, it’s definitely the top, if not, something might’ve just swooped in of the genetic disorders that are showing up for people who actually get a genetic test when they have a diagnosis of cerebral palsy. The cerebral palsy definition has changed a lot over the last couple decades. I like to call it a descriptive diagnosis. It basically takes all of the symptoms that our kids have and it bunches them all together and they call it cerebral palsy, but what there is not necessarily being informed to families is that especially if there isn’t a clinical presentation of cerebral palsy, like perhaps there isn’t any white matter and the MRI is clear and you had a normal birth and they still have this diagnosis of cerebral palsy and this group of symptoms, then you should absolutely get a genetic test because just according to the latest data, now over 30 percent of people who have cerebral palsy who get a genetic test, have a genetic etiology and they get a diagnosis. So I like to tell people that cerebral palsy is a descriptive diagnosis for people with these symptoms and that if that is your diagnosis, especially if things were normal, you must get a genetic test.

Daniel Levine: Was there an existing patient organization when Ford was diagnosed? Did you connect with other people on Facebook or in other ways online?

Effie Parks: There was. It was the first one that had been started by a lovely family in Ohio and it was so fresh because again, all of the kids were just finally getting diagnosed, so we did have a Facebook group and it was a relief to find it absolutely because the internet didn’t have anything to tell me about CTNNB1, and then I think as the moments sort of catch up with you, it’s also kind of disappointing because again, there wasn’t anything to look forward to and everybody in that group knew as much or less than I did. So, it’s both super warm and welcoming, but then also kind of a bummer, if that makes any sense.

Daniel Levine: Well, what was it like to have a community available to you to connect with?

Effie Parks: Oh, I mean it was huge. It was finally like I saw my son. I mean, I don’t know if you’ve seen the faces of the kids with CTNNB1, Danny, or went to our website, but our children look like twins. Our children all look like, at least, siblings, and so I found such great comfort in knowing that these people knew exactly what my life was like and exactly what it was like to parent a kid like Ford. You immediately form bonds with people, not even in your diagnosis group, but of course the rare disease community in general, when you find people that connect to your day-to-day. So it’s invaluable and it finally gives you a soft landing that you haven’t had.

Daniel Levine: It’s always helpful to have a map. The rare disease diagnostic journey has been mapped by various organizations, and while some indicate loops and bends in the road, by and large, they represent a clear path with a start and finish point. You’ve created a map for others who come behind you. Your map is a reaction to those. What did they get wrong?

Effie Parks: Well, I think my map got a lot of traction on it because it captures the raw unfiltered reality of what it’s like to be a caregiver on this journey of having a sick kid. And I think adding elements of humor are so important, and I think that the stuff that I put on this map, it doesn’t shy away from depicting the absolute chaos and confusion and emotional turmoil that we experience, whereas I feel other maps that I see are very orderly and they have a clinical representation, but they miss the mark because they really fail to capture the true emotional and practical struggles that we face every day. And I think people see themselves in the map I made and they recognize that drowning woman and that screaming fish or whatever we’re going to call it, and I think that it is just a validation of their experience.

Daniel Levine: Well, fans of the West Wing may recall an episode where representatives of the organization of cryptographers for social equality come to the White House on Big Block of Cheese Day, a Leo McGarry innovation, in the hopes that it will mandate the use of the Peter’s project map. I’ll spare listeners who have no idea what I’m talking about further explanation other than to say you remind me of the OCSE telling CJ Craig that the maps we use are upside down in the scale and location of the continents, and the countries are all wrong. What led you to create this new map?

Effie Parks: Well, thank you, Danny. You’ve inspired me to watch the show again because you dug out a deep memory in my brain when you mentioned that. I don’t know what really ever spurs me to do lots of things other than I typically do it out of desperation, frustration, a need for humor. I see something that is totally off and I continuously see it in my feed, and I think that day when I went to that, I think I was frustrated with something I saw, and I feel like sometimes places are just making content for the sake of making content and trying to engage families like mine when they’re not necessarily engaged with us whatsoever. And I also find that humor is a super important coping mechanism to me, and I know a lot of other families, and I find it serves us, and I also think it breaks down barriers and it makes it easier for people outside of our ring, like other stakeholders in rare disease that aren’t just the caregivers, to actually engage and understand the gravity of our experiences when it’s put out just in a way that is so approachable.

Daniel Levine: One of the notable differences with your map is that it’s mostly water, and there’s a woman at various points along the way who appears to be on the verge of drowning and is crying for help. Anyone we know?

Effie Parks: Literally everyone listening to this podcast probably. Yeah, I think that’s another thing, right? It’s relatable to so many other people that aren’t just caregivers. I think that anyone who has gone through a crisis has felt this way in some way, shape or form, but the thing about this for rare disease people is that this is a constant relentless barrage of it. This isn’t just an avenue and you go down the road and then you made it. You’re circling in this at all times and you have to figure out how to manage this 24/7 vigilance and crisis mode, constant vigilance, and I think that it’s really important for people to realize that this isn’t just a straight path and you get somewhere and you did it, and then you climb down that mountain and you’re free. It is focus at all times and with things swirling around you at the same time.

Daniel Levine: If other maps seem to represent order, I’d say yours is more a representation of chaos and one where there is no clear path to follow. Obviously this is a humorous comment on the patient experience, but it’s also grounded in reality. And if not yours, others, as best as I can tell. The beginning is in the middle and it’s marked as we refer to by either a screaming fish or a screaming head. But let’s talk about a few points on the map. There is Dr. Google’s siren call. Start there.

Effie Parks: Sure. I mean, I am still told things like that, and I think everyone in our world has been told don’t go home and Google that, whereas what are you supposed to do? What kind of advice is that to give to a family, especially when you don’t have the answer, or you googled it in front of us, or what are we supposed to do? Just sit in a dark room and hope nothing bad happens? Most of us want to take action. Most of us want to help our children. Most of us want to figure out what we can do and what we can learn and how we can help. And so going to Google is obviously something any human being is really going to do, but we’re in a frantic search for information and everyone is either unresponsive or slow to respond. I mean, the healthcare system is very difficult to navigate, and again, we’re talking about rare diseases where nobody knows what disease they’re delivering to you in that moment. Really, they googled it five minutes before you’re appointment. So we turn to the internet hoping to find clarity and hoping to find our community, and sometimes we can end up more confused and anxious. It can be a double-edged sword. But in other ways it can be the absolute light that you needed to find your people or to find something to grab onto to where you can take action.

Daniel Levine: So being an ocean-based map, there are insurance pirates. There’s the waiting whirlpool where people get sucked in, and the endless sea of paperwork, which may seem familiar to listeners. I want to ask you about three other points on your map, though. There is the island of specialists, which you warn is not a tropical paradise, but more a procedural purgatory. Can you explain?

Effie Parks: Yeah. I mean there’s so much waiting, right? There’s so much waiting to even get into these specialists, and I think that there’s always this glimmer that you’re going to finally make it to someone who is going to have a plan and they’re going to know what to do, and there’s going to be a way, and you realize that you kind of just hop from one expert to the other, and they each kind of have their focus sometimes narrow. It can be exhausting. It can be disheartening. We juggle these appointments and these tests and these difference of opinions, and we expect answers, but really we usually have more questions and especially if, I would say, most of us don’t have the ability or the accessibility to have palliative care where our team is talking. And so, you’re going in there and you’re just you, this desperate parent trying to help their kid, and you are the captain and you thought that maybe you were going to be somewhere with some other captains, and it’s not necessarily the case and not because they’re bad, and I’m not saying that. I’m just saying that “How would we know how to do that and navigate that and do it flawlessly?” But there’s not a lot of answers in rare disease, and I think you figure that out after hitting that wall a couple times.

Daniel Levine: There’s one point on the map, which is a bit poignant, but it’s the ghost ship which carries the weight of lost expectations and the silent departure of those who couldn’t weather the storm. This one hit me. Ford is your firstborn. I know everyone has dreams and expectations for their children, and as you get into the rare disease community, you have to confront horrendous loss from people you’ve come to know. I don’t think anyone considers this at the start of their journey, but how big a toll does this take?

Effie Parks: I’ll try not to cry when I answer this question. Yeah, the ghost ship is really the saddest point on the map because it totally represents the loss of hope that we get gutted from us in the beginning. At least that’s what it feels like, and we lose the people who couldn’t weather that storm, like it says, meaning the weight of loss. Expectations come on. I mean, you have this fictional idea of what your kid’s going to be and what they’re going to go do and who they’re going to marry, and that’s taken from you. You have all these dreams that never come to pass, and it’s not just in the beginning, it’s every milestone, right? It’s every age. It’s every time you’re out and you see a baseball team playing with a bunch of eight year olds. It’s a continuous loss and it’s a difficult thing. And yeah, the departures of the people in your life, usually silent. It’s really tough. I mean, a lot of people are uncomfortable with this situation, and a lot of people just get feel sorry for you fatigue, and they don’t know how to deal with it, and it’s a lot. And I think it’s just a reminder of the emotional toll that this takes and the absolute resilience that we need to keep moving forward despite these continuous losses that we face.

Daniel Levine: Well, the last point I want to ask you about is perhaps the most hopeful point on the map. This is the harbor of community. What has being part of a community meant to you and has that helped in unexpected ways?

Effie Parks: I think that if I could just say one thing to any person on the planet, it is to find your community, and it is to connect with at least one person who gets it. Find that one person who you can text, find your disease group, find the broader rare disease group, find a local playground group, figure out what is going to make you want to put one foot in front of the other and leave this place better than you found it, and I promise it will infuse you in so many other areas of your life dealing with rare disease. I fully believe that community and connection is the number one medication that should be prescribed to families like mine, because being around people too that you just don’t have to explain anything to and you don’t even have to talk to about it. It’s just a knowing is so powerful and it takes off so much anxiety and it’s such a relief and relief to families like ours. It is extreme relief, whereas I think it is such a luxury for us, and I think that before rare disease, we might not have noticed the impact of how these little things can add up. And having people around you who can support you in that is everything. And it will drive you to go do something in your neighborhood, in your community, in your school, in your rare disease community, in your research community. I have no doubt that anyone who has ever felt like they belong somewhere has went and done something for someone else. And I think that’s one of the amazing things that happen by having community, even if it’s small.

Daniel Levine: At the start of this discussion, I mentioned your podcast “Once Upon a Gene.” It’s helped many others and it’s been a source not only of comfort, but of community. I’m wondering though, how has this helped you?

Effie Parks: Oh my gosh, how has it not helped me? Yeah, in the beginning I was searching for anything, right, like me and families like mine, and nothing was really resonating until I found Sean and Kyle from the “Two Disabled Dudes,” which then led me to you, Danny. So, I listened to two of your podcasts and swallowed them whole, and then I was like, well, where is everything else? And there weren’t any podcasts like mine on the board. If any had been started, they had been scrapped. They weren’t doing them. Some of them were too complicated and sciencey, some of them were too religious, whatever it was. There wasn’t that medium that I needed in the way of a podcast because I was in the car or I was walking with my kid or I was in the waiting room. And I also wanted to listen to these stories at my pace. And I think that’s what’s so amazing about podcasting is we can connect to these people in moments of our life that’s accessible to us, especially when we’re in the middle of absolute chaos and in the thick of it. And “Once Upon a Gene” brought so much connection to me, I couldn’t even explain to you how vast of a community it has built around me and around each other. And I feel like it’s also empowered a lot of other people to go onward and make their own because they see what a difference it makes. And I love that, and I love more voices in this community because that was one of the reasons I started. It was out of desperation because one, you guys were out of content for me and there wasn’t anything that existed like it, and I needed it, and I needed those conversations and I needed to learn, and I needed to find my people because I think we realized that it wasn’t just CTNNB1, or it’s not just a ADCY5. This is a big giant community, and I think that we are so much stronger together, and it was not hard to see that once I was privy to it.

Daniel Levine: “Once Upon A Gene” is available on most major podcast platforms, but where can people find the map?

Effie Parks: The map’s on social media. I need to put it on my website, Danny, so I’m going to send it to you. I’m going to send it to you, and maybe Global Genes will grace me with the presence of having it somewhere there. I think it’s a great resource for a lot of reasons. Again, I mean, it’s funny. It’s realistic. It’s relatable. We’ll make sure you can find it. Danny’s going to have it in the show notes. That’s where you’re going to find it.

Daniel Levine: We’ll embed it in the transcript with this podcast.

Effie Parks: Yeah.

Daniel Levine: Effie Parks, rare patient advocate, mother and host of the podcast “Once Upon a Gene.” Thanks so much for your time today.

Effie Parks: Yeah, my absolute pleasure. Thanks, Danny.

This transcript has been edited for clarity and readability.

The RARECast podcast is made possible through support from the Global Genes’ Corporate Alliance. The members of the Corporate Alliance support Global Genes’ mission and programs, work to meet the vital needs of people with rare diseases, and address inequities they face. To learn more about the Corporate Alliance or how your organization can become a member, click here.