Bringing Out The Strength In Others In Combating Rare Diseases With Effie Parks

Catching and combating rare diseases, particularly those connected with genes, are huge personal battles that are truly hard to win. But how much more difficult is it for the people watching from the sidelines? Tony Martignetti sits down with Effie Parks, who shares her own struggle as a mom who fought hard for her child diagnosed with the rare CTNNB1 syndrome – an experience that taught her how to persevere amid the many medical hardships. She talks about how her pursuit for support and inspiration from other people gave birth to the Once Upon a Gene show, which evolved into advocacy of her own. Besides hearing her inspiring story of not giving up, join Effie as she looks on her podcasting career that serves as the stage for connecting people and finding support from one another.

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Listen to the podcast here:

Bringing Out The Strength In Others In Combating Rare Diseases With Effie Parks

It is my honor to introduce you to my guest, Effie Parks. She was born in the magical land of Montana, where she was raised with her twelve loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition, CTNNB1 syndrome, she dove into the world of advocacy. Now, she's the host of her own podcast, Once Upon A Gene, where she speaks to others about their journey through life with rare diseases. Effie, I want to welcome you to the show.

Tony, thank you so much for inviting me. I'm excited to be here and have this chat with you.

I'm so thrilled to have you. I wish that we could be in person. One of these days, we'll have these campfires in person and be able to have the real effect of a campfire.

I would love that.

I know that the story that you're going to share is heartfelt because it's the element of the people who get thrust into this world of advocacy. It's something that you don't choose, but you have this undying passion. First of all, amplify the story because there's something about what you do that needs to be told. That's why I launched this show in the first place is to share the stories of people who are doing amazing things in the world. I'm looking forward to hearing your story. We're going to do that through what's called flashpoints. These are points in your story that have ignited your gifts into the world. These flashpoints could be one or they could be many. As you're telling the story, I want you to pause along the way and share what you're called to share. With that, I'm going to pass it over to you and let you take it from here.

There are so many avenues. I love that you said thrust into this world. I use that term a lot for what's happened over the last few years. We joke in our community that we're in the clubs that nobody ever wants to be in. That is so true. It's also been one of the most enriching and touching communities that I have ever been a part of. A few years ago, my son, Ford was born. We were so excited. We had all of these ideas of what it was going to be like to have a son, have a child, and what they would be like. We had all of these things planned out for this fictional person. As soon as we brought him home, we started having a lot of difficulty feeding him. I couldn't get him to breastfeed. We couldn't bottle down him.

It would take three hours sometimes to get a couple of ounces down him. Most of the time, the milk would be on his chest. It would be coming out the sides of his mouth. He cried all the time. We kept going to the doctor and telling our pediatrician that something wasn't right, “Ford wasn't eating. He was writhing in pain.” We got brushed off a lot as new parents that they were baby cries and every baby stays awake. They're just colicky, that's it, “Try this, try that, go home.” We kept going in. We were both on maternity and paternity leave. We had all the time to keep banging down her door. Once a week, we were seeing her. We were seeing lactation specialists. We weren't taking no for an answer, even though we were continuously getting told that everything was fine. After three-ish months, our pediatrician turned to us in our appointment of us complaining about the same things. She looked horrified and she said, “Effie, I've made an appointment for Ford at Children's Hospital. I'm worried about him.”

It doesn't have to look like someone else's advocacy to be important and create change. 

I remember that moment vividly. I remember finally feeling validated that she listened. I also remember being so angry at her and so betrayed by her. That kicked off a series of events. My son was immediately admitted into the hospital. We were told all of these things that they thought I had heard before. The doctor looked at me and said, “Ford has microcephaly. He has hypotonia.” She rattles off these things. I realized that she thought I knew. She thought my doctor had told me what her concerns were with Ford. I had never thought about anything serious. I just knew something was wrong. Did I think that any of these things had an actual name or a diagnosis? No, not in a million years. He looked like everybody else's baby. To me, he didn't look like there was something wrong with him. Hearing all this stuff was a shock.

Those were some of the most traumatizing experiences that I've ever been through. I don't remember a lot of the aftermath of those moments. Somehow, they've evaporated. They've buried maybe of the trauma in those moments of getting this information about my child. Thankfully, we were in the hospital and we were getting this information. When we were let home, they had set up things with early intervention programs to get ahold of us. All of that got the ball rolling to find out what was wrong with my son.

I feel lucky that this did happen the way that it happened, as soon as it happened, because I know families like mine sometimes don't get these answers for years. They don't push for answers and get told the answers. It can be a difficult world to navigate. It still is, but luckily a geneticist took some interest in my son because he's extremely white. He has a lack of pigment. His hair is white. He has eye issues from transillumination. His skin is so white that she thought it was a fatal type of albinism. She was intrigued and helped push for the tests to get that answer, which thank goodness because I don't know if I would have a diagnosis for Ford if something hadn't piqued her interest like a unique diagnosis of albinism.

There's so much to the story that I want to continue on, but I want to speak to this element of what it takes to be a person who perseveres through this first of all, that you see something wrong, and you start to doubt yourself. I'm sure you're like, “Maybe it's me. Maybe he's going to come around. I am a first-time mother. I am a first-time father.” You have to keep on pushing and pushing and saying, “No, I have an intuition that something's not right.” This push and pull that you went through and the fact that you got lucky. That luck of having a diagnosis or luck of having figured this out didn't just show up. You had to be perseverant to keep on pushing through and to keep on showing up and saying, “Something is going on here." It does speak to something inside of you that made you say, "No, I'm not going to accept. I don't know what to look for. I am inexperienced. I'm persevering. I know that there's something that is not right here.” I wanted to recognize that there's something about the mother's instincts that something's not right, “I'm going to keep pushing on until I figure out the solution.”

It is an incredible phenomenon. I don't even know if it's necessarily a feeling that you just feel. It’s a knowing.

I came from this biotech space myself, but there are people who are so specialized in these different genes that they start to identify the mutations and things that have gone amiss. We are lucky, but we're also building on the shoulders of giants luckily that we've done a lot of work to be able to identify these things, and to be able to bring this to the place where it is now. The hardest part though starts with the parents being able to have that voice and to share, “This is what's going on.” To break through to the people who know that there's a disease out there, that this potentially could be caused by a gene. The voice is the hardest part. I'd love to know your thoughts on that.

Thank you for imagining that about me because I didn't feel like I was advocating. I didn't feel prepared to do that. I didn't know that was something that I needed to do. I didn't know that I could keep banging down doors and asking questions and taking no for an answer. That wasn't in my makeup. I was fully respectful of the hierarchy and the knowledge that a doctor or a nurse brings to the table over my own. I didn't necessarily feel good about dismissing them dismissing me because that's not the way I was raised. That goes back to that mama's heart. Getting someone who is maybe intrigued, that's a bonus. Some parents maybe don't ever get this voice. Luckily, someone amazing in the healthcare field latches on to them to help them. That's a beautiful thing too, but I didn't necessarily feel like it was my place to do this. I couldn't not do it.

You're left with no choice but to move forward and see what options are out there.

It opened up my eyes too. Once I had that moment with that pediatrician in the office where she looked at me horrified, that's when I knew, “I don't need you. I can get someone else,” but why didn't I know that before? I don't understand why these things aren't common knowledge. Maybe they are for some people and it was just me, but I didn't know that I could dismiss her, find a new doctor and move on. I didn't know I could necessarily forge my own path until it happened. I was shook.

I want to move on and see the rest of your story, but in what you said, it's like an insight that almost anyone who's going through a journey needs to see. When you’re faced by authority or someone who seemingly knows stuff, don't always accept what people say on face value. If you feel like you know something deep down or you feel like whatever answer you're getting is not what you expected, don't accept it.

Especially as females, we're told to be polite. That was one of these instances where I would be polite and being polite would be accepting what they were saying.

You have to challenge it. That allows you to step forward into those arenas where you can play a bigger game. If you're thinking about careers or things that are bigger, stepping forward into that next arena, people will tell you, “You can't do something.” This is something where you can say, “No, I can.” As in this journey, this is exactly the same way. It's like, "You're telling me there are no options or you're telling me that this is the way it is. No, I don't accept that. This is what I'm going to do." I know we got a little off track, but I love to get back into the story. Tell me what happened next.

The geneticist called us and told us Ford did indeed have a diagnosis, but it wasn't what she expected. She said it was CTNNB1. She read two papers on it. Some of the kids could say a couple of words and some of the kids could take a couple of steps. He was 1 in 30 in the world, period, then meeting. We weren't offered resources and hope. We were told the limits and the gloom isolation. Luckily, I found a Facebook group. She was already wrong. There were 50 people in the group, not 30. There was a huge group. There were other parents like me. There was not a lot necessarily to look towards since the ages of the kids were all young. I don't have an older kid necessarily to get all of the insight from, but it felt so good to have someone who knew this foreign word. That's not even a word, the gene. I felt comforted in that.

I discovered this world of Facebook groups. I didn't know that was a thing. I found groups for parents who had kids with feeding tubes. I found groups for parents who had kids with microcephaly, all of the symptoms that my son had due to CTNNB1. It started to open some doors for me because aside from this, I was so alone and isolated. All of my friends who had kids the same age, the gap between the development was miles now. They were going to the park and I was holding my son down to put the feeding tube back down his nose because he vomited it up. I couldn't relate and they couldn't relate back to the aloneness and the fear that grew in.

Everyone can benefit from honing our skills in listening.

I got to the point where I was even ignoring phone calls. I didn't want to talk to anyone. I didn't want people to ask me any more questions where I had to seem strong and capable. It got to be too much. I started waking up with this tightness in my throat and I felt like I couldn't breathe for a long time. I had never felt that. The longer it continued, the more aware I was that this stress, this isolation, this achiness was manifesting in my body because I hadn't necessarily let all of it move through me. I was in the car for at least four hours a day, especially with Seattle traffic, getting Ford to and from appointments for a couple of years. He had appointments five days a week. I would listen to podcasts and stories. I found a few on the topic of what I wanted to hear, of other families like me or anyone talking about this lifestyle. When I found podcasts, everything changed for me. It was the first time I felt like someone understood what I was going through. I didn't have a relationship with these people, but I felt them and they helped me.

That content dried up quickly. There weren't a lot of podcasts in this world a few years ago. There was less than ten that I could find that didn't quit, that had more than three episodes, and that weren't garbage. When that content dried up, I couldn't have it. That was not an option for me because it opened my eyes that there is a community. I need to go find them. I remember walking outside with my son. I always walked for hours with him and I would have my headphones on. I knew that I needed to do this. I could do this. I don't have any idea what I'm doing, but I have listened to enough podcasts to know that I can do this in some way. I knew that it was a piece of my purpose and it was so loud that I told my husband what I was going to do. I told my mother-in-law. They were like, “Effie, you should do this.” They're obviously like, “You can't breathe. You're so stressed out, whatever you need, Effie.” I don't know what it was. It was something that’s called to me and I just did it. I started a podcast for not only myself. I wanted to be that person on the other end like that parent in the car weeping could find and feel a little less alone.

We talked about flashpoints. This is a flashpoint moment like none other. Realizing that there's this real missing piece in the world that would have an impact on people’s lives in such a big way and you're the one who's called to do it. You have done an amazing job of building that podcast to be something that's such a beautiful piece of work. You bring people's stories to life, that is what's so beautiful. You saw this need to help people feel less alone and you've created a platform for people to share not just what‘s on their head but in their heart. That is the beauty of this. There are so many people who suffer alone, and the trials and tribulations of being a parent of a child or even being a patient who suffers from one of these rare diseases. It's hard to put into words. Even me saying it feels shallow. Having been in the community for long enough makes me want to do whatever I can to support you in any way I can. That's why I'm so thrilled to have you on to share your story so other people can learn that this is out there. You're out there championing these people.

Thank you, Tony. I appreciate that.

What was it like when you first started to bring this gift to the world? When you started to share your podcast, how did you keep your composure? How did you stay in the game when you were hearing these stories from amazing people?

I feel like talking to people is who I am inside also. I don't know if it's necessarily one of my gifts. I wouldn't say that, but I've had a lot of experience doing it. In my work history like telemarketing, bartending, waitressing, hairstyling, I am behind something at all times listening to other people. I've heard people's stories for as long as I can remember. I've always been listening to them. People like talking to me so that helps. I like listening to people because I can find things in other people's journey that resonates with me. I can find the parts that are important to them, especially hearing someone's voice, I feel like there's so much power in that and how much it can resonate with you over this magical medium of podcasting when you can hear their soul.

I also feel like so many people never get asked. That's something I've found that's interesting. A lot of these people haven't been asked how they feel and what it means. It's glossy. It's people not necessarily digging too deep because they're uncomfortable or they don't want to upset someone, but when you let people be who they are and say what they need to say, it's a beautiful unfolding in their own journey. You can hear and feel it happen when someone gets the opportunity to be heard.

You described it so well because you've been on your own journey to know when to push a little bit more, and to be able to allow people a little more space to feel into what they're feeling. That is where you're able to be skilled at this. You say you weren't sure where this came from. It's years and years of going through your own journey and knowing that you have this hidden gift of being able to be empathetic with what people are dealing with.

I feel like we could all hone our skills on listening a little better, not taking from someone's story and relating to it in the matter of going, “I do get it because of this.” Not giving that back to them ever unless they ask for it, and giving people the permission to do or feel however they need to feel. If they need something from you, then you can provide it. Otherwise, what they need is the space that no one ever gives anyone. It's rare.

It’s being able to share a piece of who they are in that moment and to release some of that pent up emotion that maybe they haven't been able to release because they feel alone. They don't feel heard. They don't have anyone to reach out to and truly share. That is a powerful element of having this medium. The element that other people are hearing makes it like an amplifier of if you're willing to share this and help other people, that's where this becomes such an amazing medium. It allows you to take this and then create a tool for allowing other people to say, "I feel you. I feel that way and I've gone on that journey too. I now understand better.” I think about you when you were telling the story about sitting in the car and listening to other people's stories. I've been there on my own journey, but it's so great to know that there are people out there who can listen to this show.

You can have these passive relationships in the most beautiful sense. I can be listening to your show, Tony, and I can be your friend, you can be my friend, but I don't need anything from you, you don't need anything from me. I'm not trying to go out of my way while I'm changing my son's feeding tube to get to know you. I feel you. My passive relationship with what I have with your insight and your story means something to me. When you're in a world of stress and trauma, that's okay. Those kinds of relationships are awesome. If you can find some meaning and something that someone else is saying, then that's value.

This is exactly why we do what we do. You and I have this in common. We've created this medium of being able to connect with people on a deeper level through this. Anyone could get on the mic and create this. We have to be able to see people at a level that's deeper than just at the surface. That's one thing that you do well. I want to take a moment where we can step away from all that. What is the biggest lesson you've learned about yourself, but also about the journey to self-advocacy that you want to share with people?

I have learned so many lessons about myself. One of the big ones that shifted my mindset was knowing that I didn't have to handle it and carry it, and be strong, be responsible and use all of the coping skills that I have to manage it. I could just know that it sucked. I could have bad days and not be a bad mom or feel sorry for myself, but to be aware of all of the terrible stuff that was happening and accept it. When I stopped trying to be strong, happy and hopeful, I still am those things but when I was trying, I was blocking everything else. There's nothing wrong with those feelings. I always say, “I was so jealous of your kid when I watched them blow out their birthday cake." I'm not ashamed that I'm jealous of that. I am. It's part of it. It's one of my emotions. Realizing that I could accept those for exactly what they are and not feel ashamed for them was big for me. It helped my throat. It helped me breathe again when I was okay with going through the motions and the emotions. That was big for me.

You can get glimpses into different worlds without having to make a big deal out of it.  

What you described rips my heart. I think about this where people have their own element of jealousy and the things that they have of other people. It all starts with having that self-acceptance. It's not something you do once and be done with it. It's an ongoing journey, but you have to start with that awareness. You described it so beautifully. It's getting into it and seeing, “I'm going to own that feeling.” It's an emotion, releasing it and saying, “It is what it is.”

It's so much more interesting when you do put yourself in that mindset to watch even how much more skilled you can become at allowing these emotions to be there and then fleet away. It's something that you build some muscle memory too in some way.

The other part of the question is around, what about the advocacy part that you've learned? Not only have you been learning it on your own about your own part of the advocacy but through your podcast. You're hearing these stories about people who have had to advocate on behalf of themselves and their kids or trying to find a path to getting awareness for these diseases.

The advocacy role is the same as your purpose role. They’re in line. I feel like so many of these advocates are the right people to be raising $4 million. These are the right people to be getting the scientists to look at their genes. These are the people who change legislation. There are people like me who have a space where you can come and share that, where you can tell your story, where you can contribute in a different way. I am not that big advocacy person who's doing those things that are grand and amazing. I am always like, “Yes, I love it when someone like that accidentally gets into our club because we need those people.” I do feel like there are so many pieces to this puzzle of rare disease, of advocacy, and we all fit in here somehow. Listening to who you are and what fills you up and what brings you energy, that's where you should go. That's what you should do. Maybe it's podcasting, maybe it's blogging, maybe it's events that you have in your community that bring people together. Think about what your gifts are or what makes you feel warmer. Nurture that because it doesn't have to look like someone else's advocacy to be important and to create change.

There's an element of this that it's the underlying current. You do your one small part in bringing that forward. If a bunch of people do this, then we start to make some real change if we all do our one part. It takes a village to make that all come together. I love the way you get to the purpose. That’s right on the money.

I also love how podcasting can introduce people to this world that would never be here. I would never be here. I would have my blinders on still. I wouldn't know anything about disability, about rare disease. I wouldn't know anything. Now my friends can come and look. They don't have to necessarily ask me if they feel weird or uncomfortable. They can be like, “I wonder how Effie's doing. I wonder what's going on in that world.” They can learn about it on their own time. You can get glimpses into different worlds by this medium without having to make a big deal out of it.

I never thought about it that way. It's an outlet to bring you out and allows you to release some of the things that maybe you’ve been holding back. We can talk about this for days. I have one last question which is so unrelated, but I still love to ask it. What is one book that has had an impact on you and why?

It's funny that you're asking me this question because I have this book with me. After we speak, I am interviewing the author. It's called It's OK That You're Not OK by Megan Devine. When I discovered this book, you have no idea. It was one of those moments when I was walking and crying with my son and realized I had to do podcasting. It was another part of this journey that allowed me to realize that I was grieving too. I was grieving something that never existed in the first place, but I was grieving my expectations. I was grieving all of that stuff. I never knew that I could use that word for it because I thought grief was only for death. When I discovered that what was happening to me was grief, it was such a release for me. It was such an invitation to be it, accepting these emotions. This book has changed my life. I send it to everyone.

I'm going to have to check it out. I'm going to get a copy myself. You're such a beautiful soul. I am honored that we were able to bring you on the show because you've shared so many things that I'm blown away by. You're a gift to the show and to people out there. I thank you so much.

Thanks, Tony. That means a lot to me. I would return that compliment wholeheartedly. Thanks for all the work that you're doing and for creating this platform. I appreciate the opportunity to be here.

What is the best place for people to find out more about you? We have to recommend your podcast, which is fantastic, Once Upon A Gene, but where else?

Once Upon A Gene, the podcast, you can find it on any platform. I'm all-over social media. You and I met on LinkedIn, Facebook, Instagram, Twitter. Once Upon A Gene has also become a talk show. That is streaming on The Disorder Channel. You can download that channel for free on Roku or Amazon device, lots of rare disease films there. I am accessible. You can email me, Hello@OnceUponAGene.com. If you have any questions, if you need me to direct you to someone in this community or a resource, don't hesitate to reach out to me. It might take me a couple of days with the kids, but I will help in any way that I can.

Are there any charitable foundations that support your son's rare disease? I'd appreciate that. I'm sure the readers would want to help out in the cause.

CTNNB1.org is our 501(c)(3) for the rare disease that my son has.

Thank you again. I can't thank you enough. I want to thank the readers for coming on the journey with us. I know you're leaving with so many great insights and a nice warm heart.

Thank you, Tony.

Thank you.

Important Links:

• Once Upon A Gene
• It's OK That You're Not OK
• LinkedIn – Effie Parks
• Facebook – Effie Parks
• Instagram – Effie Parks
• Twitter– Effie Parks
• The Disorder Channel
• Hello@OnceUponAGene.com
• CTNNB1.org
  

About Effie Parks