I Don't Know How You Do It

Rare Disease, Real Conversation: A Dozen of Us Weigh In

February 27, 2024 Jessica Fein Episode 57
I Don't Know How You Do It
Rare Disease, Real Conversation: A Dozen of Us Weigh In
Show Notes Transcript

Life with a rare disease can be isolating and confusing. But as these 12 people can attest, there's so much more to the story -- the lessons are abundant, the paradoxes are persistent, and the community is full of passionate, inspiring, and resilient people.

In honor of Rare Disease Awareness Day on February 29th, tune in to hear some of the most powerful moments from past conversations with host Jessica Fein and members of the rare disease community.

Whether you're personally affected by a rare disease or want to understand the experience, this compilation episode delivers inspiration, insight and a reminder that while each disease may be rare, rare diseases as a whole affect hundreds of millions of people worldwide. 

You'll learn:

  • Why connecting with people who share something in common with you can be the most isolating thing of all
  • How to statistically increase your chances of getting help
  • Why living with rare disease brings so many paradoxes
  • What the rare disease anthem and motto should be
  • How hope can be a double-edged sword
  • Whether resilience is innate or developed over time
  • Specific ways to provide meaningful support to a friend who's hurting
  • And so much more...

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Music credit: Limitless by Bells

Transcript

Music: [00:00:00] Come along now. The sky is endless. Now we're limitless. We're limitless now. Come along now. 

Jessica Fein: Welcome. I'm Jessica Fein, and this is the “I Don't Know How You Do It” podcast, where we talk to people whose lives seem unimaginable from the outside and dive into how they're able to do things that look undoable. I'm so glad you're joining me on this journey, and I hope you enjoy the conversation. 

Welcome back to the show. This is a special episode of I Don't Know How You Do It in honor of Rare Disease Day, which is February 29th. We've spoken with so many people affected by rare disease over the course of this show.

And there are consistent themes that come up over and over again. The thing is, each rare disease is, by definition, rare. Most people have never heard of most rare diseases. But when you take them all together, you realize how [00:01:00] common rare diseases actually are. There are 300 million people worldwide who have a rare disease, which means you probably know somebody who has a rare disease or who's affected by one.

So today you're going to hear some of my favorite clips from a whole lot of amazing people affected by rare disease. It is a rare disease roundup. If you want to hear the full episode from any of these people, you can just go to www.idontknowhowyoudoit.com. Search for their episode and hear their full story.

I'm so glad you're joining me for this very important and special episode.

We are kicking off with Corey Corrigan, whose daughter, Harper, has Lissencephaly caused by Miller Dieker Syndrome. She has a trach, she's vent dependent, and she has a whole host of symptoms that come along with this syndrome. Corey talked about the intense loneliness that came with the diagnosis. I think my [00:02:00] favorite part of the conversation with Corey was when she shared some of her father's wisdom with us, especially the thing he said to her that made her completely change her outlook. 

You've said that there was a loneliness even with others who were going through a similar thing. And I think that's so interesting, right? Because it's obviously isolating from the friends who have. typical kids. They have no clue what your life is anymore.

But it was interesting to me that you said it was also isolating. If you're not at the same headspace, if you're, you know, three steps ahead or three steps behind from the other medical mamas, that that can be isolating too. Yeah, 

Corey Corrigan: I was surprised about that as well. In some ways, that's even more depressing to me and harder than not feeling like I'm on the same page with typical families, because that makes sense.

You sort of expect that. But I find that, obviously, dealing with a child diagnosis like this is extremely difficult. Everybody has their own [00:03:00] time frame of going through it. Everybody struggles in different ways. And so I found that when I got on social media, I was kind of on the same page as a lot of people.

I was angry. I was afraid. I was really grieving all the time and really in a tough spot. Lissencephaly is not common. You know, Harper's one out of a hundred thousand at most. So the support group for Lissencephaly is actually super amazing and one of the most kind group of people that is just super lucky.

So it's a great group, but it's a very busy group and it's a small group. And so there's not always somebody available. When I joined Instagram and found other severe epilepsy parents, which I can relate to the most. besides the trach, which is harder to find. At the time, they were all kind of on the same page as me, just screaming into the void about epilepsy and how there's not enough research, an important thing.

But at the base of it, I felt like it dragged me down after a time because I would start to get [00:04:00] better in terms of working through things in therapy and like reaching some level of acceptance, not trying to fight that this is my life now. And not all of them did the same. And so I would reach a new place and feel good.

And then I'd spend a few hours on Instagram and then I would get pulled back into that place. And so that ended up feeling really lonely. It can be really lonely to have somebody that you feel like you should relate to, but they are on a totally different wavelength in terms of their acceptance of the situation and their feelings on it.

Other parents that might not be In the place I am right now, which is accepting and trying to find joy in the little moments in life, they will say that that's toxic positivity and say that that's not good, which I don't really agree with. But I do think there's a little bit of a feeling sometimes with other parents of how dare you find joy in this?

Like, this is horrific. Like, this is not good. If you say that it's joyful, then you kind of erase all of the scary [00:05:00] stuff. 

Jessica Fein: Let's just talk about the toxic positivity for a minute because I know that you have to change what your expectations, what your vision, everything that you have imagined your child's life and your life is going to be is erased, right?

So you have to change what it is you're striving for, right? In order to get through. And I know you started to use a measurement of Harper's happiness. Mm hmm. With that, I imagine, is looking for these moments of joy, and it's something that was really very core to our approach, ultimately, as well. So how do you respond when people say, oh, well, that's just toxic positivity?

It's survival, and it's a way to make something out of this life. 

Music: Yeah, I mean, I think I kind of respond with the thing that helped me to get over that hurdle because honestly, for the first at least year, I was in a really, really dark place and I spent hours and hours basically having the same conversation [00:06:00] over and over again with my dad, like, This sucks.

I don't want to do this. I don't like that. This is my life. I can't do this. I can't do this. And he's just saying the same thing over and over. You can do this. I know you can do that. It's just hard. And yes, it sucks. It sucks. One day and I don't remember who told it to me, whether it's my dad or my husband or my therapist said, what do you want your memory of Harper's life to be with you?

Do you want it to be one of grief and sorrow and anger and sadness? Because that's what you are doing right now. If you don't change it, then Harper is going to be defined by that for you forever. And I thought, well, dear God, that is absolutely the last thing that I want. And so that is ultimately what helped me to try to refocus my energy on.

It's not me defining that things are awesome. It's me finding the joy because Harper is joy and love and all those things, and that's what I want her life defined as. 

Jessica Fein: Was it your dad who also said, you can do this, [00:07:00] you just don't want to? Or did you come up with that? Because I loved that.

Corey Corrigan: I think that it was probably my dad.

He's sort of like the philosopher, sort of therapist in our family. And it's probably was my dad. Now our whole family uses that. I can do this. I just don't want to. 

Jessica Fein: I'm going to start using it too. And I guarantee that people listening to this are going to start, you should trademark that right away because that needs to be like on the t shirt or the mug or whatever.

Corey Corrigan: Yeah, I find it helpful because it's true. That's what it really means. When you say I can't do something, at least for me, it means I just don't want to, I just really, really don't want to because it's hard and it takes a lot of effort. But if something means enough to you. You'll do it, it just might suck.

Jessica Fein: Claire Audibert’s son, Elliot, has a rare and catastrophic form of genetic epilepsy called KCNQ2. Claire and I also spoke about the loneliness that came with the diagnosis. her journey to acceptance, and how she ultimately found her tribe. [00:08:00] 

How did you find the people who could relate to you in this new reality?

Claire Audibert: I think that is such an interesting and important point. Maybe let me start by saying it took me a long time. First because I was so lost at the beginning and I just didn't want to accept it. And for me, finding my tribe and reaching out to people who might be leaving, you know, a similar situation was accepting that Elliot would be different all of his life.

And I think it took me a very long time to accept that that was the case for a very long time. I keep praying, hoping, begging for a miracle and the miracle would be, let's just get back on track. And, you know, everything will just be. a bad memory, which obviously, you know, it isn't, but it's a different reality.

And, you know, it's a different form of normality, but it took me a long time to actually reach out to the right people, but finding my tribe. So a lot of it was through accepting it and, you know, saying it [00:09:00] out loud and saying, you know, we might need help or, you know, what I need is different from what others need.

Uh, the mom's group is an interesting one because turns out some of my best friends and strongest support around Elliot are probably from that mom's group. The group of women that I met through mom's group love Elliot so much and I think the best quality that they've displayed is that they treat him like any other of the kids.

And then I reached out to the KCNQ2 Foundation, and it was probably about one and a half. It took me that long to actually reach out and say, we're part of the community, and you know, we want to say hello. 

Jessica Fein: How did you get there? How did you come to accept it? Because totally understand and relate to, well, if I just pray hard enough, if I just wish hard enough, if I just, you know, close my eyes and put my hands over my ears, if I beg my mom enough and say, mom, why is this happening?

How did you get from there to accepting?

Claire Audibert: Well, it took a long time. And if I'm [00:10:00] completely honest, it is an ongoing journey. I think there are some days where it's still really hard and some days where I see him for who he is, who is this amazing, fabulous little person who's funny and full of love. And it's finding that balance between the two, between pushing for normality, because that is what keeps us going as well.

And that is what keeps us traveling, working, exercising, doing all the things that we love and loved to do before he was born and still love to do as a family. And also accepting that it's a journey to accept, like, if that makes sense, like actually being kind to myself and allowing myself to feel the sadness and the grief.

And because I think for a very long time, I kind of bottled all of that down as well. And I was like, no, I'm not grieving because it's not an issue. And it took a long time to accept that. That's what grief can look like and that's what trauma looks like. So as I said, you know, we've got two little boys and Oscar doesn't have any health issues and that has been a [00:11:00] huge part of that acceptance journey as well.

Balancing his needs with Elliot's needs makes it incredibly challenging, but it also gives me a glimpse into what other families might be living. 

Jessica Fein: When Emma Nadler's daughter Eden was born with a rare genetic deletion, Emma learned a lot. Two of those things were how to ask for help and how to live boldly.

I loved talking to Emma about her memoir, The Unlikely Village of Eden, which is insightful and funny. and poignant and powerful, just like our conversation. 

It's interesting because you write that you used to be somebody who really had a hard time asking for help. And yet it seems like you then really made this effort to reach out and to make connections and to become somebody who could invite help in.

How did you get from point A to point B? 

Emma Nadler: I think it was partly because it works. I mean, you really [00:12:00] statistically increase your chances of getting help when you ask, and you really, and you really have very little chance of getting what you need if you don't. And I think once I started trying that and discovering how much That leads to a feeling of interconnectedness.

I really believe in being a helper and being helped. I don't want to be on either one side of that polarity too much. I want to be in the web of humanity with others, helping and being helped. And that's really important to me. And especially because of the work I do as a therapist, like, yeah, that's a helper role.

But it's also not so one sided because I am being helped by getting to see the people I work with and their humanity. And I do my own therapy with my therapist. So it's all symbiotic, I think, in a certain way, but, but as a therapist, I'm much more in that helper role, especially, you know, in session, I'm there for my people and that's what I'm doing.

It also feels really good then to take up space and be helped in other ways. 

Jessica Fein: And I think sometimes we don't even realize that we're [00:13:00] actually helping somebody else when we ask them for help. Exactly. Because now we're giving them a way to do something to be useful. 

Emma Nadler: Yes. This is like one of my definite favorite topics because I really agree with you so much, Jessica, that it matters to the person being asked because it's a statement and it's a sentiment that you are needed.

You belong. I care enough to ask you and we could do this together. We don't have to. be alone in this and that's like the most exciting thing I think about being alive is like what if we're not alone in this what if it isn't just up to us what if we're a part of something and we could do that for each other.

Jessica Fein: You said that caring for Eden has made you live more boldly and I loved that can you share what you mean by that how do you live more boldly because of Eden?

Emma Nadler: I think it's in part because of my awareness of mortality now, and I was already pretty aware.

I mean, I like the existential thinkers and I, you know, in therapy, I'm really [00:14:00] drawn towards those themes, but now, and I would say this is mixed. I mean, I feel a real awareness that, I mean, how could this not resonate with you, Jessica, but that we. You know, we don't have forever. Like, we really don't. And we don't know where this thing is gonna go.

Then, I'm really thinking about, well, then how do I want to live? If this is what it is, and we don't have a guaranteed future of things working out this way or that way, how do I want to live now? So I think Eden helps me be bold because it's like, well, we might not have that much time, and I'm really interested in making this life feel meaningful.

Jessica Fein: Effie Park's son, Ford, has CTNNB1. Effie and I spoke about her oxygen tanks, which is one of my favorite tools that has ever come up on this show. And we also talked about what Effie really thinks about self care. 

I love how you talk [00:15:00] also about taking agency of your own body and knowing that you can be in control and say, yes, this is anxiety and this is what I'm going to do.

So what were some of those tools that you used to tame, if you will, the anxiety? 

Effie Parks: Man. I know everyone is so sick of me talking about my oxygen tanks, but my sister taught me about my oxygen tanks and she told me to make it visual. So I bought a big black magnetic chalkboard piece and I put it on my entire fridge.

And she said, draw four oxygen tanks and put in there what you have to have every single day or you're going to feel that choking sensation in your throat. And it was just so easy for me to think of the things that kind of alleviate that stress. And for me, it was eating something healthy in a day, it was focusing on my breath in a day, it was going outside of my apartment into the real wind and air and sky in a day, and it was moving my body.

As a caregiver too, there's so many days [00:16:00] that just melt into each other and you feel like you're not doing enough, or did you even do anything, you don't feel like you got anything done, and that's kind of one of the vicious circles. Just having those four simple things that were my tasks, just for me, I got to check something off the list, like I was being productive, when I felt like everything was in shambles, and I'm trying to figure out this feeding tube, and he's vomiting all over me, and like, I'm going to the doctors, and my friends are doing gods knows what.

But I had control over those four things, and I felt like I accomplished something in a day, and all of those four things were habits that I had to create for myself to be okay, which made me stronger every single time I did them. And it created this kind of, I don't know, life jacket, right? Like, even if stuff did get awful and terrible, and whether it was a mental place or a sickness thing with Ford, I had this baseline of what I knew my body needed, and I had this reservoir of ways I had been taking care of myself to prep myself for, like, the [00:17:00] really crappy times.

And it sounds so silly, but those little things that I still look at every single day and do, I've gotten the biggest bang for my buck from those little things.

Jessica Fein: I love that because first of all, you're getting the biggest bang for your buck from something that is just right there. Anybody can do it. It's not like my oxygen tank was going to a spa in Bali or my oxygen tank was, you know, taking a course every night.

These are really manageable things and yet they were so sustaining for you. And it's really interesting to have the visual reminder because I think You know, so many of us say, like, I'm going to wake up and meditate every day, or I'm going to do whatever the thing is. But your day just goes. I love the visual.

Effie Parks: The visual was like the most important part, and I didn't think it would be like I almost didn't do it. And my sister made me do it. And I'm so glad she did. And, you know, she was the first person that made me think about what taking care of myself actually meant. We're always told that, right? Take care of yourself.

Take care of yourself. Can't work from an empty cup, blah, blah, blah. But like. [00:18:00] Nobody really, really knows what that means for them. I mean, they do maybe, but most caregivers will come back to you with, I can't take care of myself. I don't have any time. I don't have any money. How could you tell me to take care of myself when I have this sick kid?

When what really it is, is so different than what you've been told, right? Like, self care is so different. It's so boring. It's so mundane and so habitual that caregivers don't know that and so they get even more stressed because they think they have to go on a girl's trip or they have to get massages or pedicures when that is stressful.

I hate having to even think about getting my nails done. That is such a waste of time to me. Like, that doesn't self care or anything.

Jessica Fein: Last year on Rare Disease Awareness Day, I did a rare panel with three rare parents who are powerhouses in their own rights. Patti Hall is a writer and the author of the memoir, Loving Large, about her son. [00:19:00] Nikki McIntosh started the Rare Mamas community and podcast, and Daniel DeFabio works at Global Genes and is a rare disease filmmaker and co founder of The Disorder Channel. I loved the whole conversation, but I particularly was struck by the bit where we talked about hope and resilience. 

I want to switch gears a little bit and talk about hope. Daniel and I have been talking a little bit about this very thing recently, and Daniel wrote one of the most powerful pieces I've read called “Hope is a Thing with Talons.”

And Nikki, I know that you've written that you approach the rare disease journey with unrelenting hope and you want to help others do the same. And then Daniel, you also acknowledge that without hope, we open ourselves up to a life of despair and desperation. So how do these realities live together? How can we embrace hope, but also protect ourselves from not being too hopeful in a situation where we might know what the end game is?

How do we balance that? 

Nikki McIntosh: Big question, [00:20:00] Jessie. 

Jessica Fein: I don't mess around. 

Daniel DeFabio: I, I think since I have a bit of a problem with hope, I mean, as you said, I believe in it. I need it. But one of my problems is that it's so future facing. And does that imply that the right now is not good? Of course it's not good. We're trying to fix a problem in the right now.

And that's what the hope is about. But does facing the future exclusively or too much rob me of the joys of the present? And so that's my tension with hope. 

Jessica Fein: I think you can get so consumed by hope that, as you say, you're not. In the present, you're thinking about the future. You're locked into this idea of how can things change?

How can things be better? What can I hope for? When maybe what you really need to be hoping for is that like the next 10 minutes are okay. Or maybe you need to be present in the next 10 minutes and not hoping for anything outside of it. But it's tricky, right? Because you want to be hopeful. But I think for me anyway, I felt like what I was [00:21:00] hopeful for changed dramatically over the progression.

Nikki McIntosh: To me, it feels really personal how you approach hope. For me, I don't like who I am without hope like it doesn't bring out things about my nature that I like or that I think help me. And so something about hope, it changes something in me. And I think that's what I like about it.

I obviously don't know what the future holds. I still don't. We live every day in unchartered territories with my son, but the presence of hope in my life does something in me as a person that brings out, I think the best pieces of me. And so it's almost like a tool for me to stay at the highest place that I can for myself and for my family.

Patti Hall: I worked with an author who wrote a book, I'll name it here, Catherine Hammond is her name. And she [00:22:00] wrote a book called Hope Less. And she put less in brackets and it's gorgeous. And what it is, is a reconsideration of our definition and our usage of the word hope. And it was mind bending for me, and I could work on this glorious book with this really, really sensitive author, as long as I kept it out of my personal story.

Because I remembered that a doctor told me once that we'd be lucky to get Aaron to 30. And I remember thinking, Oh my God, that's a clock ticking all the time. Well, Aaron's 30th birthday is on rare disease day. And that's real. And I try through the work of Catherine Hammond to see hope as a wellspring that can never dry up, to see it as a presence of a resource.

But who are we kidding? My irreverence inside me sometimes says what's hope for? I mean, look at the people on this screen. We know what it's like to run out or to question the virility of hope. And what does it do for us? Is it the comfort that in usage we tell ourselves hope is [00:23:00] supposed to be? Is it enough comfort?

Where do the facts come in? So that's been real for me for 17 years, right? The doctor said to me at the time, one of us needs to be good cop and one of us needs to be bad cop. I will be permanently and intensely hopeful, he said to me. You need to be realistic. And look at him every day and see what he can manage every day.

So I took hope out of the vocabulary and he said he'll bring it because he could bring the medicine, but I had to live with the kid and look him in the eye every day and walk him through this. So that changed for me. There's the definition and the usage of that language. Oh, it's a rabbit hole. He's still Aaron's doctor.

And so defying odds as possible is that hope? I don't know. I'm not very proud of my relationship with hope, to be honest. 

Jessica Fein: Well, then tell us about your relationship with resilience. Because I know you say that resilience is something that can be learned and I was struck by that because I tend to think of resilience as something that you have or you don't.

[00:24:00] And you're wired one way or the other, but I know you think that resilience can be learned. And so, first of all, that's a much better way to think, right, because it's available to everybody. Can you share about that? 

Patti Hall: It's this sentence becoming what he needed. So I don't know that I had a capacity for it before, because I kind of didn't know what tough things were.

Call that privileged life, call that toning down anything that was traumatizing for me, because I think you said, Daniel, that that jarring of your priorities into a fresh alignment, that took away the bullshit out of my life. It also cleared my marriage and my best friendships and my relationships and my resources.

But if he had to do it, I had to do it. So, I think the situation taught me, and I think every one of us can do that and will do that for the right circumstances and the right reasons. I think for people like the us are right here. I think I might've called it something different before, Jessie, I might've said, Oh, I'm easy going or I'm very flexible [00:25:00] or I have this cool capacity for change, but resilience becomes what Rare asks of us I think.

Jessica Fein: Nikki, what do you think about it? Born or developed over time? 

Nikki McIntosh: Developed over time, definitely. I feel like sometimes it can look really big and heroic and sometimes, most times it can just look like getting up and getting your kid to the doctor or, you know, if you're a patient yourself, getting yourself to the doctor on a day where you're dreading going and you are emotionally, physically, mentally exhausted, but you just go do it anyway.

And then you wake up tomorrow and you do it again. It's small and it's daily and it's built over time, I think. 

Daniel DeFabio: I liked, Patti, when you said you might not have thought of it as resilience earlier on, and those other terms, you said, oh, I'm adaptable or I'm flexible. I think of myself that way. And I don't think of myself as resilient, but I probably was resilient in some ways.

And I think what you just said, Nikki, is so much of it doesn't feel like a choice. It's just the day [00:26:00] to day needs that you keep, you take this piece and then this piece and this, and then in hindsight, boy, that was a lot. And so someone else might look at that and say, that's resilient or that's, you know, extraordinary effort or something, but you're too busy taking the hits as they come.

Jessica Fein: They may look at it and say, I don't know how you do it, right? 

But it is true. I used to feel that way with the idea of, I don't know how you do it. Well, the big thing is you're getting up out of bed in the morning and you're going to face the day after that. You're just doing the next thing, right? 

Daniel DeFabio: And there's so many of those next things that you seldom have time to think about a big strategy or am I doing them in the best way it's just.

For me, it was very reactive and not very proactive or planned. You think about it after and you think, how the heck did I do that? 

Jessica Fein: Yeah, I mean, that's interesting because you guys are in it, but I mean, I felt like I had no understanding of the [00:27:00] intensity. I couldn't, I couldn't. Because that would have blown me over, right?

If I understood, so I just didn't look up and after when I did, and I still am really understanding the intensity and it strikes me more and more, and it's just really powerful because when you're in it, you can't take that step back. You wouldn't be able to function. 

Nikki McIntosh: That's almost my strategy, Daniel. I think if there was any strategy, it's like, don't look up, just keep going.

I think it would be too much if I really would stop to examine it all, but it's just get up and just do what's on the docket for that day.

Jessica Fein: Susan Geoghegan is mom to two kids with rare forms of mitochondrial disease, Lorelei and Benji. Lorelei passed away in 2021 and Susan and Benji and the rest of their family have just returned from their wish trip to Give Kids the World Village to fulfill Benji's wish.

Susan and I [00:28:00] talked about how she has learned or is learning to live more in the present and also one of my favorite topics, which is how grief and joy can coexist. 

Do you think that part of the reason that you're more present, as you said, now is you realize that You can plan all you want, even when your plans were completely derailed, you were still trying to plan in this new reality.

At the end, you learn, you can't plan. 

Susan Geoghegan: Lorelei taught me my plans don't matter. And it took my daughter's entire life for me to actually learn that. It took her ruining how many vacations, that girl, holidays and vacations, always Disney, camping. She ruined so many vacations. And I finally, finally got to the point where I was like, you know what, if we make it on vacation, we make it on vacation.

Now, I think I'm a better person because I finally let go of so much control. I still, to a fault, am still a planner. But [00:29:00] I think I've let myself go, okay, well, you can plan, plan, plan, and if it doesn't happen, something will happen. Whatever's gonna happen is what's supposed to happen. It took me a really long time to get to that place because I was the one who had the Disney spreadsheet.

My kid had the Disney ICU experience. So like, you know, it took some hard, hard lessons for mama. But eventually mama started listening to Lorelei that we just do what we need to do. And I think that that kind of also transfers into my grief journey too, that like, I am now at a place where I'm trying to Manage trauma with Benji, but also heal from trauma with Lorelei, and grieve, and find the joy, and do all the things, I am a ball of emotions right now, and I am going through so many different things that being present I think is all I can do, so I plan as much as I can, and then I just focus on what's in front of me, because I don't want to be let down maybe?

But I also want to be right here with Benji. Does [00:30:00] that make sense?

Jessica Fein: Absolutely. And of course, when we're planning, by definition, we're taking ourselves out of the present. Right? And I know that you and I share the belief that grief and joy can be present at the same time. Mm hmm. And that is really something I learned.

I mean, I never would have imagined that how in the world could that be possible. It's interesting. My first experience with grief is when my sister died suddenly when she was 30 and I was 27. And she was my best friend. And there was no piece of that that I would have thought there was any joy. So, you know, as I think about grief and I think about how grief and joy are so intertwined and in my experience with Dahlia, I really feel that grief and joy were each much stronger because of the presence of the other. I don't think it's a universal thing for grief though, because when I think about other losses I've had, there isn't that element. So maybe it's when there's grief in an ongoing basis, right?

Maybe when you're living with anticipatory grief. 

Susan Geoghegan: I think [00:31:00] too, we go full circle with that of the horror and the beauty. You know, like, just like grief and joy, the horrificness of this can sit next to the beautifulness and hold hands side by side and be best friends and not blend together. One of the things we say on my podcast all the time is that things can be together at the same time without blending the two.

So these. Two polar opposite things can sit together, whether that's when you're knee deep in the journey with your child here who has medical complications, like it can be beautiful and horrific at the same time, verse now I am facing trauma and also healing at the same time. Unfortunately, I would love for the two of them to blend together so that it would get easier, but, you know, facing all of this and grieving my daughter, yet still feeling her magic and knowing that our girls are sitting like, my background's blurred out so you can't see, Lorelei's probably back there dancing around and Dahlia's like, you know, peeking over [00:32:00] your shoulder and all that, but I believe they're still here and I I believe that mitochondrial disease wasn't who Lorelei was.

It isn't who Benji is. I believe that my kid's soul, who they are, I mean, I feel like Benji would have come out like a dry engineer, whether she was typical or complicated. And Lorelei would have come out like a colorful artist troll, whether she was typical or complicated. That's who they are. And maybe mitochondrial disease and our true selves can sit side by side without blending the two.

Jessica Fein: Kelly Heger is mom to four children, one of whom was the fourth in the world diagnosed with a severe and disabling brain disease called AADC. The thing that stuck out the most about the conversation with Kelly has got to be the helpers she's enlisted to care for her daughter. It is [00:33:00] truly remarkable. 

Kelly Heger: In my spare time, I train and I show my German Shepherds.

Animals to me are just, they're beautiful and smart. And if you're kind, then they're so loyal. 

Jessica Fein: How did the dogs react with Jillian? 

Kelly Heger: As a matter of fact, not only are they my German Shepherd, they're my dogs, but they're also service dogs. So I've trained them how to help me with Jillian. So if I'm alone, and I think I heard you say this as well, you can't even go to the bathroom. You have to take your child with you. Um, Unfortunately, taking Jillian when she's on the vent and tricked and all that, that's not possible. So, we have a camera system, so I usually will wait till Jillian's sleeping and, you know, running with my camera. But during the day, sometimes it takes two people to take care of a child with such complexities.

And one of the things that I had trouble [00:34:00] with was That dystonic posturing I told you about. So when Jillian is in a forced rotation, throwing her head off to the side and shaking, and she's going to go and pull that trick out, not on purpose, but through abnormal posturing and tremors and inability to use her muscles the way they're supposed to be used, she gets contracted in abnormal ways.

So what I taught my dogs to do one at a time, not together. Only one comes up on the bed when I need them via command. But I will ask my dog to hop up and I will use commands. I usually say help. And he will look at me, or she will, and I'll say their name, and that one gets to come up, and I'll say, cover, or chin, and he'll put his head out, and I put my hand there, he puts his head on my chin, and then I say, cover, and he takes his paws, and he covers her hands, and then he puts his chin down, so he'll hold her hands.

So I can do all her trach care because she's twisting and I'm not going to be able to get the [00:35:00] care done. I'll get that suctioning done. So he'll help me. So I've trained him to do that. The other thing that they help me do is, Jillian has temperature instability. So when she comes out of the shower, she's quite cold.

And so I've taught them how to come up onto the bed and I say bang. It's kind of silly, but. He plops down like he's been shot or something and he'll just take his whole body and lay right next to her with his head on the pillow and his head right next to her head and his body next to her to help keep her warm.

And it actually helps with the tremors too. It's a physical support on top of warmth.

Jessica Fein: And, you know, what we're talking about here, too, there's so much machinery and it's so delicate. And so to have these big dogs come up and not pull the vent out or pull the trach out or, you know, jar something, but instead provide that kind of assistance, I have goosebumps.

That is remarkable. 

Kelly Heger: Yeah, it's beautiful to watch too, because they're German Shepherds, they're high [00:36:00] energy, they're working dogs, but their temperament with her. They just all of a sudden become calm and they know to just settle and they wait. They literally sit and wait for your command. And she loves it.

She just loves it. She loves them and she lights up the second she sees them. And when they're in her bed, even more so.

Jessica Fein: When Megan Nolan's son, Domenico, was diagnosed with FOXG1 syndrome, Megan and her husband founded the Children's Rare Disorders Fund, almost immediately. And then, just a year later, Megan launched the online magazine, RareParenting.com. One of the parts of the conversation I loved with Megan was her advice on how to show up in a meaningful way.

When you want to help people you love who are struggling with rare disease, or for that matter, going through any kind of tough time. 

Megan Nolan: I think that it's important for everyone [00:37:00] to realize that the parent is usually going through a lot, right? And everything kind of starts with the parent and their management of the child.

So I think it's important to always, just as a friend or family member, be there for the parent, offer help. But try to offer something specific, and I think that that is why a lot of parents don't take up offers. Because if you have a friend who says, Anything you need, let me know. I'll help you in any way you can.

What does that mean, really? You know, what kind of responsibilities can I put on this person? And how much are they just being nice versus how much are they really willing to come to my house and help me, right? So I think that friends need to first define What kind of work they actually want to put in to help their friend.

And if the answer is they're willing to come to the house and help with the laundry or do the dishes or do some things that aren't necessarily managing the child but just take some stressors off the parent, then they should specifically say that to the parent. They should say, listen, [00:38:00] let me come over on Saturday.

I'm yours for three hours. Give me a to do list and I will do anything you need. Something like that is way better than all of the clues in the world that you can gift my child. It's just so much more meaningful. And then there's the added bonus that you get to have your friend over. You know, which is always nice because we don't see our friends as much as we used to.

And that's the reality for any new parent. Every parent, their lives change. But ours change exponentially. 

Jessica Fein: We are closing out today with my friend Adam Johnson, who is a self proclaimed dadvocate diagnosed with mitochondrial disease in 2019. Adam and I spoke about the paradox of rare disease and what he thinks should be the rare disease anthem.

Adam Johnson: The word that comes back to my mind all the time with life with a rare disease is paradox. I think you helped me frame this the first time, before I knew you, before we'd ever talked or [00:39:00] communicated, you talked about joy and sorrow living together. And I think Effie might have helped me find that or put words around it.

And it was just this like, mind boggling, incredible moment for me to realize that possible, because it doesn't seem like it's possible. Those are seemingly contradictory things that happen. And, you know, I talk Brené Brown all day, every day, and she talks about the paradox really being the mark of a wild heart.

It's those times when you need to be tough, you need to be tender, or you are excited, and you're scared, you're brave, and you're afraid, and it's all in the same moment. And you're just like, how does this work? How does this happen? But it's really about she, Brené Brown talks about it's showing up in your vulnerability and your courage and you're being fierce and you're being kind.

I feel like we need Alanis Morissette to have, like, Hand in My Pocket be the, like, unofficial song of rare disease, maybe, right? Like, because that could be our anthem, [00:40:00] like, sad but I'm laughing, I'm brave but I'm chicken shit, right? Like, I mean, I'm sick but I'm pretty. Like, and she, and she says it, right?

She says it in, in the song. She's like, what it all comes down to is nobody's really got it figured out just yet.

Jessica Fein: Thanks so much for listening to today's episode. For those in the rare disease community, I hope you heard some familiar themes and maybe felt a little bit less alone. And for those who don't know much about rare disease, I hope you picked up a thing or two. If you'd like to learn more, visit my website where I have a lot of writing on the topic, Jessicafeinstories.com.

That's Jessica Fein, F like Frank, EIN stories.com. And you can also pre-order my book Breath Taking: A Memoir of Family Dreams and Broken Genes. Since this is an episode for Rare Disease Awareness Day, I'd love it if you'd share it with one person who might benefit from hearing all of these incredible voices.

And if you have a minute, please [00:41:00] rate and review the show. That is how we can make sure that the show reaches more people continuing to grow. Thanks so much. Have a great day. Talk to you next time. 

Music: I've got the whole at my fingertips. I feel like lying. I feel infinite. I know where the kind to think along some other lines spread will be fine.

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We are limitless now. We are limitless now.[00:44:00]