JANET:
Hi, my name is Janet and I'm the mother of Jamie

She's the first person that I've ever known that has HAE. She was diagnosed eight years ago, and she's the first person in our family that's been diagnosed with this disease.

The thing that I wish people understood more about HAE is its unpredictability. She has no idea when she's going to experience a swell and how it's going to affect her or what she's doing, and that there's just so many unknowns about this disease right now.

I also want to say that I'm very proud of the way that she handles it because like I said, it's very unpredictable. One thing I wish Jamie understood about my role as her mom, is that whether she believes it or not, I always have her best interest at heart. Even though she might get tired of hearing me. My role as mom has kind of changed since her diagnosis because I think I'm a lot more protective of her, and I don't know if she gets tired of me nagging at her.

JAMIE:
I don't feel like my mom nags. I think she's, like she said, she's acting from having my best interests in mind and I'm, I'm very stubborn, so I don’t… she'll offer to drop me off at the door, but at the same time, I don't want her to, because I want to be able to walk like a normal person. And so I would say that is one thing that I do give up in daily life is just even something as minor as that.

JANET:
I think it's important that you let your doctor know how this disease impacts you so that they have a better understanding of the disease.

She can tell 'em, we can go in and say she's having an HAE attack or to go in to the doctor and he just knows this, this, and this from what he's read in the book. But if she explains to him, “this is what happens” and “this is how I react”, then I think that gives 'em a better education than just what they can read in a textbook.

JAMIE:
She's advocated for me when I couldn't advocate for myself.

Hi, my name is Jamie and I have HAE.

I think that anyone that's diagnosed with a chronic illness is going to have to accept that there will be some changes to their daily life. Whether or not they choose it to be a negative thing, or a positive thing depends on the person and depends on their outlook in life.

I'm from Oklahoma, so our summers are brutal. So, if there's any type of function that involves going outside, then I automatically, that's just, I'm sitting it out. It's even hard sometimes walking from a parking lot into a store in the heat. I mean, it's just that much of a trigger.

I have to have pants in five sizes because I never know what size I'm going to be when I wake up, or what size I'm going to be at the end of the day.

I'm very lucky because my friends and family don't let my HAE affect my relationships with them. And they understand if I need to cancel because I'm swollen. they understand if I need to sit something out because it’s hot and I am going to swell up like a blimp. And they understand it's just not a good day and I don't feel well. So, I'm very, very lucky.

I would tell someone with HAE who's having a bad day or feeling overwhelmed that it's okay to stop and take a deep breath, and that that's probably one of the best things you can do for yourself is to know when to just stop and take a deep breath. Because HAE can be exacerbated by stress. And while it's so easy to freak out with this disease, it's just as important to remind yourself to breathe and to be patient with yourself and to give yourself grace when it comes to feeling overwhelmed.

Hi, my name is Kobe. I am 22 years old, and I was diagnosed with HAE when I was 14 years old.

Community is the lifeblood of any movement of any like-minded people; getting together and chatting is the only way anything has ever gotten done, ever. I've been fortunate enough to have been grandfathered into the HAEA and the summits and all those fun community building experiences because my mom started going when I was very, very little.

And so, to grow up and look around and see people that you know, that suffer, so to speak, but that have positive stories in real lives outside of this disease and jobs and families and stories to tell, and anecdotes to spin that have nothing to do with this experience that affects us all adversely.

And you realize that on a human level, you can come together with that empathy and then kind of forget that it's the pressing circumstance that brings you together, if that makes sense.

I'm like all my HAE friends. We don't chat about HAE. But I know these people through this, but not because of it. And I don't only know them for their disease. My HAE is not the same as my mom's or my brother's, or my cousin, or my other cousin, or my auntie or whoever. We all have very, very different experiences with it, but the very fact that we all have a piece of paper that says, this is what we experience… brings us together on that level.

There's a fundamental level of 'I see you' and 'we see each other' that comes with this kind of community.

Hi, my name is Jennea. I'm 43 and I have HAE.

I believe my biggest change I had to do with my life when it came to HAE was… I had to stop planning things with my family just because of the disappointment. Still to this day, my kids hate the fact that I cannot make any solid plans for anything because of the HAE, just because it's unpredictable when you're going to have a swell. So, it's very hard to commit to plans. So, my kids hate that about me. I never tell them we're going to do anything until the last minute.

We have always had such a difficult time having somewhat of a normal life. I think we end up accepting the little things that we have to accept just because... I couldn't tell you that I could go be able to walk out the house without meds or think about a family vacation, planning it around when I'm going to get a medication shipment.

It just became a normal thing that I've had to just deal with in my life, and it's became a normal to me.

Don't give up when you feel that you're just at a breaking point. We've all been there, but we all can get through this. If you fight for yourself and just advocate, get medication, talk to doctors, go to programs, do whatever you have to do to fight for yourself.

There's plenty of us out there, obviously, through meetings, through community dinners. Get out there. Find your people. Without your people, you feel like you're solo. You're not solo. There's plenty of people out there that are willing to help you and just give you a sense of not being alone, because we're not alone.

We have a big community, and we all have big hearts. We all want to help each other and be there to support each other.

Hi, my name is Jamie, and I have HAE.

If I could give anyone with HAE, and newly diagnosed with HAE, any advice it would be to be patient and to do as much research as you can, because a lot of times you're going to have to be your own advocate in the beginning because it's so rare.

It's okay for people in the HAE community to want to be able to do the things that they were able to do before. I personally love to play golf. In the summertime, I just… I’ve accepted I can't do it. And so, that's part of researching and seeing what's available out there to give ourselves hope that there is something that could enable us to do the things we loved and had to give up again.

I would love to be able to lay out in the sunshine again. I would love to be able to just be outside and enjoy it and not have to worry about how long it's going to be before I start swelling up.

My hope for the future of the HAE community is that we can all find therapies that benefit us and allow us to have the best possible quality of life that we can. And I understand that that is going to look different for every single one of us because it's such a rare disease that it affects every single one of us differently.

My name is Jennea. I'm 43 years old. I was diagnosed at the age of 27 with HAE.

It's important for the people with HAE to be the biggest advocate because we know our own bodies. We know what we need, and if we don't advocate for ourselves, we can't expect anybody else to advocate for us.

I feel like if you don't let others around you know, you have HAE, I feel like you're hiding a very important part of your life. And also, if you were to get sick and couldn't breathe, how is anybody going to know if you're not open and honest with them what you have? And they need to know what you need them to do for you when you can't speak for yourself.

You have to be open with it. Whether it's you dating somebody, or whether it's your friends, your coworkers, definitely in the stressful situation. Your coworkers need to know that you have medication that you need to be treated with.

I definitely feel that you need to speak up about what you want to do, even though you do have HAE speaking up, bringing it to light, speaking about it to other people, can help you get the advice that you need for you to accomplish goals that you want to set for yourself. Speaking the goals out in the universe. There's somebody out there that's going to help you achieve those, and you're just going to feel that much more better about yourself.

Hi, my name is Kobe. I am 22 years old and I was diagnosed with HAE when I was 14 years old.

Acceptance is a funny word. You have to accept your circumstances. There's sometimes I've had to reach out to my friend and say, I can't make your birthday dinner because I'm suffering an attack right now. And that just is what it is. I won't be in the... and for me, I think about the big life of it all. If it's 21st birthday or your 18th birthday and I've missed this big life event, and I'll never be a part of those pictures because I wasn't available this one evening.

It's easy to get caught up in feeling like, “oh, why me?” Or “how could this be different?” Or “if only I didn't have to”. Do you have to accept a lower quality of life that you didn't ask for? Absolutely not.

And that's why I think advocating on any level that is available to you is imperative. It's because access is not the same as it was 10 years ago, and it will not be the same in a decade if we continue this way, and that's for the better. So, no. Do you have to accept terrible, terrible side effects and life altering circumstances and missing big family moments? Absolutely not.

I don't want to cope with it.

We are on an upward trajectory, and we have been for a long time, and that's beautiful. But it doesn't happen by accident and it certainly doesn't happen with the absence of effort. There are so many people trying so hard to continue to improve our lives and the quality of them at any given moment.

My advice for our community to continue this progress is to stay persistent and steadfast in the understanding that we deserve a life that is regular to any person.

SUMMER:
Well, we’re here.

COLI:
We are.

SUMMER:
HAEVN.

COLI:
I know. I’m excited.

SUMMER:
Yeah, me too. We should probably, you know, get into it and explain to people what this is, why we're here.

COLI:
Yeah, my name is Coli.

SUMMER:
I'm Summer. We're both patients of hereditary angioedema, and I think it's crazy to know that we're here in this spot today, being able to be in a position to talk about it and let the world know A. what hereditary angioedema is but also, you know, share experiences and allow people to know that they're not alone in this really rare disease.

COLI:
Yeah, I feel like it's a really huge milestone not only for the HAE community but for us.

SUMMER:
I definitely have had my issues with mental health throughout my process of being diagnosed with this disease. And I think that's why this is so important because it helps shed light on that side of things, as well
So, you know, to talk about the implications and people's experiences with how they were diagnosed and how it presents, that's one thing. But the mental health side, I think it's…

COLI:
It's not talked about as much.

SUMMER:
It's not, and it's so important.
It feels really lonely if you don't have a good support system.
And so, I think, you know, going through the process of grappling with that and, you know, like what therapies are available to me, how can I find a community of people that understand or who do I have to talk to? And I think there was a very long time early in my diagnosis where I didn't feel like I really had access to that.
And I had to spend a lot of time, I guess, reflecting on having this disease. What does that mean for me in my future? And am I going to let this impact me? How open am I going to be about talking about it? Am I going to tell people I have this disease?

COLI:
It's okay to be angry because accepting HAE is being angry sometimes, is grieving it, is, you know, trying to figure out how you can now bring this a part of, you know, my life. If I accept this, you know, how am I going to go forward in life with it?

SUMMER:
So, I know that our diagnosis stories are quite different. Do you maybe want to share your story a little bit?
So, my diagnosis actually came when I was like 17. And I feel like that was like in the prime, not only the prime of my life, but I feel like that was, more of a time where your personality is kind of getting formed. You know, you're really trying to learn about yourself and really get to know yourself better.
And I feel like during that time, HAE kind of formed a lot of who I am. But I actually had my first swell when I started my first job.

And I really loved my job a lot. Like, I really loved it. You know, this is the first time I had a job, this is the first time I’m making money for myself. So, I took it very serious.
And, by the end of that day, I was extremely tired. At the time, I didn't know what it was. Once I got home, I just fell into the bed, went to sleep, but I woke up with like a sharp pain in my foot.
My foot was extremely swollen. We went to the emergency room, got there, of course the doctors did know what it was. Their first idea was like let's just put you to sleep and then, you know, we're going to, like, try to figure out what's going on. So, I can still remember maybe like 4 or 5 times waking up and seeing, like, one limb, like one more limb swelling. That's how HAE introduced itself to me at 17.
What about you?

SUMMER:
I mean, my story is definitely very different than yours. I was slightly older. I was in university. Mine didn't present in the same, like, extremity swelling like yours did. Mine was very throat based, so I was actually sitting in a university classroom during a lecture. I had eaten some nuts.
And I just remember, like, I'm sitting there and my throat and my tongue are starting to swell. And I turned to the girl next to me and I'm like, “is my tongue swollen?”

COLI:
Yeah. You never had this happen before?

SUMMER:
No, never. And like, I never had any allergies or anything. So it was so bizarre. And within like minutes, like my throat and my tongue were completely swollen. So, I had to get rushed to the emergency room.
So, there was a nurse that was on duty in the emergency room and she, you know, was just finishing school. And she had read this weird little, tiny report in a textbook about this, you know, this hereditary angioedema.
And she said to the doctor, maybe try looking at this, like I don't know, like she's swelling, so maybe there's something there. It's edema.

And then the diagnosis comes in after tests. And I just remember sitting with that and being like, what just happened? Like a second ago, I thought maybe I was allergic to almonds, and I could settle with that.
But now you're telling me I have this hereditary disease and it just it shook my world completely.
I think a lot of people with the disease grapple with that, right?
And I think as patients, we go through the gambit a little bit. We have good days and bad days. And it impacts life differently each day.

COLI:
Life is meant to be lived. It's not meant to be sitting here worrying about what you have, if you can be able to sustain it the way that you can, do it. But you have so much left to live. Keep going and don't let it hinder you.

SUMMER:
And it's really hard because you come to these challenges where you need to make a decision. Do I talk openly about the fact that I have this, how it impacts my day-to-day life, my travels?

COLI:
Yeah. I had this conversation with a coworker, and we were just randomly talking. This is during a time where I didn't really tell anybody. And she was like, oh my gosh, Coli, you need to tell everybody your story is amazing. And I was like, no, I would never.
She's like, no, I really think that you need to do this. So, she tells me to tell everybody I agree to it. And this is a pinnacle in my life to where I'm in front of these people on a Teams call, of course. And I'm telling my story that I never really told anybody.
This is a lot for me. And I remember after telling that story, I hit the end button at the meeting, and I just start bawling. Like, all these emotions just start pouring out and at one point I was like, why am I crying? Another point is like, oh my gosh, I'm so sad. Another point is like, I'm so happy that I got it out.
And after that, I started getting like messages and they were like, “Oh my gosh, like this really helped me for my life,” and “I would never forget this, thank you so much for telling your story.” And at that moment, I was like, you really don't have to have HAE for you to be impacted by somebody's story. You can just be a living human being with, you know, issues in life.
We're all human. We all go through things.

SUMMER:
I think that's why, again, this is going to be really nice because we get to talk to people who are sharing the understanding of the burden of the disease, right? Whether it's medical professionals, caregivers or parents whose kids are going through this, other patients, people who are just in the industry and, you know, have different viewpoints. I think it'll be really interesting just to feel that sense of community through conversation.
This was obviously born out of a place of trying to create a safe haven for anyone in the community.
I'm super excited to have other perspectives on the show. Obviously, you and I, we could talk for hours about it.

COLI:
I feel like this safe haven that we kind of have right now. I feel like this is a really nice, safe space that we have, so I’m really feeling the effects of that. So just imagine, you know, what everybody else would or will feel when they were able to hear this. So I'm loving it already. HAEVN.

SUMMER:
Welcome to HAEVN Voices, a series that aims to address the unique mental health challenges associated with managing a chronic, rare condition like hereditary angioedema, also called HAE.

COLI:
With these conversations, our hope is to promote emotional well-being and create a sense of community by sharing personal stories, expert insights, and practical coping strategies for living with or caring for someone with HAE.

SUMMER:
Let’s get into it.

Hi everyone and welcome to HAEVN Voices. I'm Summer.

COLI:
And I'm Coli.

SUMMER:
And today we are talking with Dr. Al Freedman, a psychologist specializing in supporting patients and families affected by rare diseases, disabilities, and medically complex conditions. He's joining us today to help us understand and navigate the impact of HAE on mental health and emotional well-being.

Big welcome to Dr. Freedman. Dr. Freedman, question for you. I'm curious, what led you to a career that specializes in supporting families affected by rare diseases?

DR. FREEDMAN:
Thank you, Summer and Coli. First, thank you very much for having me. I'm honored to be here. And to answer your question, I was in training to be a psychologist, and as I was finishing my doctoral training, uh, we had a baby boy named Jack, who was born in 1995 and born healthy. But at the age of six months, baby Jack was diagnosed with at the time an untreatable neuromuscular disease called spinal muscular atrophy or SMA.

And we were told that baby Jack would live only for a year from the time of his diagnosis. Thankfully, Baby Jack grew up and lived to the age of 26. He passed away three years ago, but we were very, very lucky to have him for 26 years. And his life was full of challenges, but also full of some very special gifts.

Because of my son, I chose to specialize in helping other families who face similar challenges with rare disease.

So I consider it a great privilege to do this work and consider it a privilege to honor my son through my work. And I'm happy to be here today with you.

SUMMER:
Well, we certainly appreciate you taking the time to speak with us. You know, as people who suffer from hereditary angioedema, it could be very mentally challenging. You know, there's a lot of mental health issues that go along with it. And so, you know, it was really important for us to have you on the show so we can talk to someone who understands it.

So I'm curious, based on the work that you've done, how have you felt the similarities have been between different rare diseases. Are there a lot of similarities? Is it quite different?

DR. FREEDMAN:
Yeah. Uh, each of these rare diseases that, uh, that I help with are very different in terms of the medical challenges and the medical symptoms. HAE is entirely different medically than my son's condition, SMA. But the psychological challenges and the types of stressors that we face within the rare disease communities, there are many commonalities.

First, the diagnosis of a rare disease is a life altering moment for many of us. I myself went from having a healthy baby boy one day to having a baby who wasn't expected to live another year four days later. That was our diagnostic journey. It was abrupt, and it really was a trauma for me, and for my family. And whether that experience of diagnosis takes four hours or four days or four years or fourteen years, it's very complicated, and we find that the life that we thought we'd have isn't the life that we do have moving forward.

So the adjustment to the new world that you find yourself in is very complicated for many. I call it the twilight zone. I felt like I'd been launched to the twilight zone when our baby was diagnosed into this place that nobody else possibly could understand. And, uh, it was very disorienting, and it took me quite a while to get my feet under me.

And I'm a psychologist. So, the experience of a diagnosis is the first area that I see that requires special support and is very common across rare diseases. The second area that we all have in common is the life of uncertainty. The symptoms that the two of you experience with HAE can be unpredictable.

And it's hard for all of us to live not knowing what's going to happen. What's going to happen next? Um, I drove around for 26 years with a suitcase of clothes in my car and a toothbrush, because we ended up in the hospital with baby Jack quite often over those 26 years. And it's a hard way to live.

Living with uncertainty is, is hard. The uncertainty takes many forms. There's the existential. What is going to become of me and how do I fit into the world? Is there a place for me in the world? What does this mean in terms of my life?

So living with uncertainty is a common challenge. And then there's dealing with the healthcare system. If you have, as you do, a disease that's invisible most of the time or much of the time, that presents different challenges.

And where do you find hope? And how does community help? So, these are the common themes across rare diseases and they cut across all rare diseases in all countries.

SUMMER:
Of course, you know, there's something very comforting about that statement that there's so many similarities amongst rare disease. There's also the scary aspect of it. I mean, both Coli and myself, we, we suffer from the disease. Stress is a huge factor in hereditary angioedema and, you know, facing stress on a daily basis is fairly inevitable.

So when that becomes, you know, part of the triggers or part of the reactions, that can be very hard . And so, you know, what kind of coping strategies are there when it comes to people with HAE or any rare disease dealing with those daily uncertainties that you mentioned?

DR. FREEDMAN:
Yes, the first thing we all need, whether we have a rare disease or not, is connection. And when we have a rare disease, it's very common for, for our families to feel isolated. We're a person with a rare disease, we often feel different than everybody else and we feel isolated. And because of that, we sometimes don't have enough connection.

So I'm not sure this falls in the category of quote, coping strategy, but I start with the basics. We all need to have a sense of connection with our family, with our friends, with our work and with others who share the same challenges. So, I often talk and assess a client's need based on that spectrum of connection or disconnection and strive for connection.

That being said, in terms of, quote, coping strategies, everybody's different. And for some people, meditation is really helpful. For other people, listening to music is helpful. For other people, taking a walk is helpful. For other people, going to a football game or watching TV is helpful. For other people, talking to a therapist is helpful.

For some people, exercise is helpful in whatever form you can safely exercise. So, it's not a one size fits all list, it's a find your route to what works for you list in terms of coping strategies. With rare disease, I find it remarkably powerful when people have each other.

And I'm finding as a psychologist that there's as much power or more power in the group experience than the individual experience because there's so much knowledge, there's so much compassion, there's so much support, and there's so many shared experiences that are rare to everybody else but not rare to you if you're a member of this club you didn't choose to join.

SUMMER:
That's a really good point. That kind of leads me to talk about how difficult it can be to open up about your disease journey. And Coli, I know this is something that you and I have chatted about in the past, how we have very different approaches and stories when it comes to our comfort levels with speaking about the disease, especially early on when we were diagnosed.

Do you want to maybe talk to Dr. Freedman about your experience and just what do you do when you're someone who isn't maybe as comfortable opening up about the disease in the first place?

COLI:
I think the biggest thing with speaking on something that I was newly diagnosed with, I think at first, it was more of me getting more of an understanding of it. Because once you bring up the subject, it's okay. So, what about it? Can you tell me more about it? And I think at the beginning, it was more so what do I have and me understanding what I actually have and how to explain it to others that didn't really know.

And I think that kind of goes into my next question, because the biggest thing that did help me was, was my caregiver, which was my mom. She really implanted inside of me that, um, I was not abnormal and that I could do just as much as anybody else and that I shouldn't hide, uh, you know, what I had because it was a part of me.

So you expressed that you had a son with SMA and thank you so much for sharing that story about him. But being that you did experience that within your family and possibly talk to patients that have rare diseases, can you speak about the common challenges that rare disease patients have and how those challenges can be overcame within the family between the relationship between the patient and the caregiver.

DR. FREEDMAN:
Yeah, sure. And just to comment on what you said, when you're newly diagnosed, it's very different. In the beginning, I went to my first conference with other SMA families a few months after my baby was diagnosed. And I remember thinking, well, if I don't go to the registration table and sign in and get a name tag, maybe this will all go away.

You know, like I, I first had to accept the fact that this was real for me was step one. And thankfully I did sign up and get my name tag. And then step two was watching the other children and the other families and accepting the fact that I really had to be a member of this club. I didn't choose to be.

You didn't either. And then you take steps in. It's like when you go to a swimming pool and stick your toe in the water and then you sit next to the water and put your feet in. It goes in steps for most people. Their comfort level with interacting about your disease and talking about it. Because you just don't know what to do for a while, you know.

COLI:
That's a great analogy.

DR. FREEDMAN:
Yeah, and the person that I work with professionally who's new, uh, newly diagnosed has very different needs than the person who's gotten used to it and has some practice. To answer your question, Coli, um, being a parent is a hard job no matter what.

It's a crazy job to be a parent with or without a rare disease. It's a challenging job. With a rare disease, it's even more challenging and as a dad, I'll tell you that it wasn't an easy 26 years, but I have no regrets about my son's journey. It was really hard to take care of him because of all of his medical needs.

And one of the common challenges I see when I talk with kids and adolescents and then young adults is, how do they do what most kids need to do, which is to move away from their parents rather than be dependent on their parents? Every year, at that same conference that I was afraid to get the name tag from, now I'm, for 20 years, I've been facilitating support groups for the kids, and one of the first questions the children ask me, I'm the only one in the room without a wheelchair in these groups, and the kids will drive their chairs around and we play a game and, and they'll ask me, um, Dr. Al, how can we get our parents to stop worrying about us so much? And these are seven, eight, nine, 10-year-olds. And then when the teenagers come for the teenage group, it's Dr. Al, our parents are driving us crazy, you know, like, which happens with teenagers and their parents anyway, but it's harder sometimes for kids to be able to be independent.

You want your independence as an adult and, and everybody does. These are the kinds of challenges, these are normal developmental stages that parents and kids go through that are complicated by the challenges of rare disease and the need for parents to be more involved. Then they would have been without the rare disease and the young person growing up and wanting to be like everybody else and wanting their independence.

And the parents are just so worried, you know, and there's good reason for that with a condition like HAE and a condition like SMA. Of course, parents are worried. I'd be more concerned if a parent wasn't worried. It's a matter of how much worry and how does it play out in the dynamic.

COLI:
I'm sure that's like a huge process for parents to kind of, you know, contemplate and try to figure out how to get through it. From your perspective, how important is it for caregivers or parents to like maybe seek mental guidance or help with the experience?

DR. FREEDMAN:
I think every parent I know who's had a child with a rare disease needs support. Whether or not it's formal support from a licensed mental health professional is another question. Sometimes that's needed and helpful and sometimes it's not needed. Support can come from many places. The other parents who had kids like Jack were probably the most valuable sources of knowledge and support early on for me rather than the therapist or the doctor.

And sometimes a parent will benefit from mental health support and sometimes a parent will benefit from peer support from their rare disease community and other parents. Some of the other parents that, that our kids grew up together from 25 years, 30 years ago, we're still friends and we will always be friends with or without our kids because we helped each other, support each other through a lot of challenging situations. It's like another family. I consider this community an extended family, both the parents and the kids. So, we all need support.

SUMMER:
That's a good point. I really like your quote. You know, we didn't choose to be a member of this club. I think that's so valid and hearing that is nice because I think daily we go through that gamut, right? Of, I didn't choose this life. Like, why? Why is this my life? And I think a lot of people suffering from HAE, especially, we deal with the emotional journey that comes with having a rare disease, and you know, it's that feeling of hopelessness or frustration, sadness, sometimes it's the loss of your former self or the things that you can't do that others can do and that can be a very lonely place.

And I know that's been my experience of that emotional rollercoaster that comes with the day-to-day challenges of dealing with a rare disease. Is that something that you encounter a lot in your practice?

DR. FREEDMAN:
It's exactly what I encounter in my practice. Everything you just described, Summer, is what I encounter in my practice, that existential level. Why me? How do I fit in the world? What does this mean for, for my life and my family? And how do I manage all this? It's very, very common. And it's also the reality that our attention in rare disease has to go to our medical needs and our physical well-being first, and the attention to mental health within rare disease often lags behind the attention to physical health because you have to be alive before you can talk about how you feel about it.

I, I would tell you that for 26 years, I was so busy managing the day-to-day challenges, keeping my son alive that I didn't have a whole lot of time to talk about how I felt. I was wanting to make sure that the ventilator was charged up and that the wheelchair lift on the van was working and the nurse who was supposed to help overnight was going to show up or I would be the nurse.

And you also with HAE have a lot of uncertainty. You have a significant disruption when you have swelling, you have symptoms. And the unpredictability and the disruption of those symptoms and your attention to your medical needs has to be first and the rest come second for obvious reasons. They're no less important, they're just different types of important and I feel very obligated to support families like yours and mine because there's so few of us who, uh, have experience in this arena.

And so I, I call my son professor Jack cause I learned a lot in school, but I wouldn't be on here with you if I was a PhD psychologist and I hadn't had Jack, professor Jack, train me and taught me what I need to know to help other families who face these challenges.

SUMMER:
Of course. Well, I think that's a really good point. And it's nice too, because sometimes you forget about those caring for somebody with a rare disease. And as much as, you know, I want to turn the conversation to those of us suffering from the diseases and, you know, the mental turmoil that we go through, anyone that is within the circle of someone suffering from a rare disease is also going through an array of emotions, whether it's your spouse, you know, caregiver, parent, or even just other friends and family. Having someone in your circle that is suffering from some sort of rare disease, it affects everybody and it's important for those who are caregivers to take care of their own mental health or to at least have the resources to know how to care for themselves as well as the person they're caring for.

DR. FREEDMAN:
That's right, Summer. With a rare disease diagnosis, really the whole family receives the impact of that diagnosis.

So I wholeheartedly agree with you, that the caregivers of people affected by rare disease need as much support and sometimes more than the person who's diagnosed with the condition, depending on the circumstances. We're all in this together.

COLI:
I did want to kind of go into more of the community aspect part of it. I know that a part of my community is now Summer. I met her this year and, um, just the whole HAEVN community that we now have and we're trying to communicate with the HAE community. Can you tell me more about your experience with the diagnosis of your son and how you guys were able to build a community and how important it is for other rare disease patients, no matter what they have, to build a community.

DR. FREEDMAN:
There are many types of communities that we, with a rare disease, can receive support from, and some of the challenges. Accepting that we need help and that we should allow other people to help us. We all want to be independent. We have our work communities, our school communities where kids go to school, our neighborhood communities, our faith communities.

And the community you're referring to is a special community for our families with rare disease. It's the rare disease community. Fast forward 29 years later, this community is to me part of my family.

And I'm very much a part of the community and feel very proud with how everybody supports each other. But the most important thing is the emotional support because we all have this unusual thing in common.

I found a lot of support and a lot of fuel came into my tank emotionally. As soon as I felt I had found other people who were, who had also been launched into the twilight zone.

These people in the community helped me to navigate so many unusual things that I wouldn't have been able to do myself. But most importantly, Coli, uh, our community understands each other and supports each other and there's such strength in numbers.

To me, community is, is vitally important to all of us affected by rare disease.

SUMMER:
Thank you so much, Dr. Freedman. This was incredible having you here chatting with us. You know, it means a lot to us. You, you understand as best as anyone can understand, you know, what we're going through and being able to work with someone who really has experienced it firsthand. That's impactful to our community.

So, I just wanted to say thank you so much for joining us today. We've made a friend and we just, we've learned so much, really appreciate your time.

DR. FREEDMAN:
And I've made two new friends and what a privilege to get to know both of you and to support you and your community in your journey.

COLI:
Thanks for joining, really appreciate your input.

DR. FREEDMAN:
Thanks for having me.

SUMMER:
Thanks for listening to HAEVN Voices. HAEVN Voices is sponsored by Ionis, and participants are compensated for their time.

COLI:
The opinions shared today are specific to our individual experiences, which may not be representative of all patient journeys. If you have questions about your health, speak with your doctor. Stay tuned for more enlightening discussions and stories from the HAE community.

SUMMER:
Welcome to HAEVN Voices, a series that aims to address the unique mental health challenges associated with managing a chronic, rare condition like hereditary angioedema, also called HAE.

COLI:
With these conversations, our hope is to promote emotional well-being and create a sense of community by sharing personal stories, expert insights and practical coping strategies for living with or caring for someone with HAE.

SUMMER:
Let’s get into it.

COLI:
Hi everyone and welcome to HAEVN Voices. I’m Coli.

SUMMER:
And I’m Summer.

COLI:
Today, we have the privilege of speaking with Arielle, a registered nurse who also lives with HAE. Arielle brings a unique perspective to our conversation as she not only manages her own HAE but also shares her experience with her identical twin sister, who is also a nurse living with HAE.
So, um, thank you for being with us today, Arielle, and really appreciate you coming today. So, can you tell us a bit more about the beginning of your HAE journey being diagnosed?

ARIELLE:
Thank you, Summer and Coli, for having me here today. I’m excited.
My HAE journey was definitely different than others because I didn’t have any family members who could maybe start the diagnosis. My twin sister has it, but she was diagnosed only because I was diagnosed. So, it took over three years for me to be diagnosed.
I’ll never forget my first attack or the first attack that started my whole journey. I remember it was Columbus Day weekend, and I was working at a Chinese restaurant, and I had excruciating abdominal pain. I was having nausea, vomiting, diarrhea. I left work and I went to the hospital, and I just explained everything that was happening.
They did a CT scan. They were like, oh we think you have gallstones and gastritis. Go home and follow up with your outpatient. From there, I met with so many doctors. I met with my primary care, GI doctor, and by the time I would go back to my doctor’s office, they’d be like, you’re fine. All of my symptoms would resolve by the time that I would go see my doctor.
I kept going to the doctors, um, with abdominal pain. I had an endoscopy, a colonoscopy, a HIDA scan. I ended up having emergency surgery to have my gallbladder removed. Come to find out they didn’t even need to take it out.
So, after three years of going into the hospital, multiple hospital admissions, I had surgery, and my gallbladder removed. I had multiple scans. And then I went to my GI doctor and my GI doctor said, have you ever heard of angioedema? And I said, actually, I have. When I was 17, I went to the bathroom and I looked down and my, I had genital swelling and I was 17, I wasn’t, you know doing anything that could have caused it. Of course I had to go to the hospital, I could barely walk because I couldn’t close my legs. So, I had to go to the hospital, and they told me I had genital angioedema. So, my GI doctor’s like, well, sure, I’ll test you. It’s a blood test. And they tested me, and it came back positive.
And from there, I went to a specialist, and I got confirmation diagnosis.

SUMMER:
That’s crazy. I mean, like similar to you, Arielle, I don’t have anyone else in my family that has HAE as well. So, it was a bit of a, an odd, you know, experience getting diagnosed.
Coli and I talk about this all the time, how like you have to be your own advocate. And hearing your story, I think like you’re a testament to that, that line of thinking as well, where if you don’t like constantly push and say no, like there is something wrong with me. I’m not faking this like I know that sometimes it’s invisible or you know when you’re not having a flare up you don’t see it and they don’t understand but you have to keep advocating. So, do you have any like advice from that perspective when being your own advocate and like especially as a nurse for people who are maybe at the early stages of starting to be symptomatic and how important it is for them to advocate?

ARIELLE:
I think that sometimes with an invisible disease like we have, people don’t believe us. So, I think that education is really important to teach the nurses, so they can give us, like, provide us with care that they’re knowledgeable about. I was graduating nursing school when I was diagnosed, but I always saw myself as like I was the patient and I’ve been a nurse for over 10 years now. But I always see myself as I’m in the bed, like, how would I feel if someone said you can’t eat or drink anything? You’re like…, even though I know why we can’t but like, you know, I understand it’s an extra level of empathy, like understanding.
I do want to say one thing just for other patients maybe could understand is that just because I’m a nurse or a nurse practitioner, there are times where providers don’t even believe in me. There have been times where I’m like, my throat is swelling, I cannot breathe, I’ve been intubated four times, and they leave me in the waiting room, and then I end up getting intubated. So, advocate for yourself. Be the person that’s going to stand up for yourself.

SUMMER:
So many of us share experiences like that, right? Like we as people suffering with HAE are still learning every day. The doctors are still learning every day so it’s so much more important to continue to have the conversation to continue to educate when we find new information.

ARIELLE:
Honestly, what’s really important, I think, is documentation. So, for example, like documenting a flare, like taking those pictures, taking, you know, videos of like my voice changing or pictures of before and after my swelling, having that documentation that I did go get tested for this. And then, having a summary or maybe a log of your symptoms is really important because they all kind of blend together.
So, when you go see the doctor, you can have that information in front of you so you can give it to them. I think that’s really valuable, especially when getting diagnosed.

SUMMER:
For sure. And the symptoms evolve too, right? Over time. Have you experienced that with your own HAE with kind of an evolution of symptoms over your course of having the disease?

ARIELLE:
Yes. So technically, my symptoms started 15 years ago, and I’ve only been diagnosed for 12 years, and it has completely evolved over the years. In the beginning, I only had abdominal swelling. Later in life, it became my throat. It was mostly my throat. But the most important thing was figuring out what my triggers were to help, like, prevent me from getting sick. So, identifying what gets me sick and how to mitigate that. Like I know if I don’t get enough sleep or if I go flying. Like, if I fly, flying is a trigger for me. I know to give myself extra rest at those times to prevent me from getting sick. So, I feel now that I’m having a better control of my symptoms so I can better take care of myself compared to maybe when I was 25.
And like, mental health is so important, making sure that my mindset, you know, like I’m going to therapy, making sure that I’m not bottling things up, that it’s underlying causing me to get sick without even knowing. So, it has evolved over time, but I also feel like I have evolved as a patient over time to better take care of myself. So, there’s always that balance and there’s in life where I would be like up and there’s times when I am down. So, it’s like always changing and evolving with your disease I think is so important.

COLI:
I love how you spoke about mental health. I felt like when I was first diagnosed, my mental health was just everywhere. Um, not really knowing how to understand it, accept it and just really know how to go forward. And I feel like right after my maybe third serious throat swell, that’s when like my mind kind of just locked in and it was like, okay, Coli, you really need to know what you’re going to do with this disease and how you’re going to move on with life. Did you have that sort of experience inside your life? Like, okay, I feel like I’m at the bottom. I really have to climb up and get better.

ARIELLE:
Yes, I’ve definitely been there. That feeling is very, um, familiar to me. Like, feeling out of control. So, I took a step back and realized I need to focus only on my health, to get that under control before I get everything else in my life controlled. I think like changing my perspective, is, like, the most important with my mental health.
But one thing that I did always in my height of being sick is, have you ever had a moment that was so blissfully great where you’re just so happy, like everything is great? Like where maybe you’re at the beach or it’s like maybe you’re doing something that you really love. Whenever you’re doing that, I always stop and be really mindful and say, I’m gonna hold this moment to bring it back to me when I’m in the hospital, okay?
So, you can say, I’m sick right now, but I’m gonna get that experience again, okay. I’m gonna go to the beach again. I just need to get through this really hard spot that I’m in like, oh, I’m in so much pain right now. Oh, everything aches, everything hurts. All right, well now let me visualize that moment when I was hearing the waves, and I was smelling the ocean and I’m like doing the same movements that I was doing to try to bring me back to that moment and take me out of what I’m feeling.

SUMMER:
I love that. So basically, what I’m hearing is gratitude, grounding, distraction. Like that’s kind of how you’re living your life. And I, I can relate to that wholeheartedly. Coli and I recently, you know, we had our feet in the sand, at the beach, and I take myself back to that moment all the time because I don’t live where there's beaches and, you know, when you're getting to just stare out at the water and, you know, have that moment of grounding and gratitude and really appreciate that we’re here today and we’re okay and that even when it’s hard, it will get better and you just have to kind of get yourself through it.
And I can really appreciate your experience, Arielle. I mean, we’re all in this together and community is important. It’s so lovely to talk to other people who understand, right?

ARIELLE:
I remember the first person I met with HAE. I’ll never forget feeling so lonely, being like am I the only person in the world and when I got to meet him, it was like so rewarding. And meeting other women who are like minded that have the same experiences. They’ve had like these life-threatening experiences. Having conversations with them it just feels so much more like they understand, there’s other people out there that are still living and thriving with our disease.
In the beginning, I’m not going to lie, I was terrified of my disease.
So, I think it was like years for me to accept like, part of me, I’m like, I can do it. I can do anything. Like, my disease isn’t gonna hold me back. But no, it will. It will. You have to be realistic. Like accepting, yes, I have this disease. Will it take me longer? Yes. Does it mean I can’t do it? No, I can still do it. So, I think it’s like really important to have that mindset.
Your perspective can be your power, or it can be your prison, okay? So, I turned my perspective of like, okay, this is really difficult, I need to slow down. I need to take care of my health first. Then I can go back to school. Then I can continue working. But you have to like, accept your disease and care for it with all your intention before everything else. And I think that’s the emotional load that people with chronic illness have.
And I think having that perspective and ownership over life is really important with having this disease.

SUMMER:
That was beautifully said. I think like that. I know I can relate very heavily to that. And, you know, the mental health journey is, is challenging. And I, like, I love what you, you know, you said, but it can be very lonely and debilitating.
And as you’re going through the process of being diagnosed and, and then accepting your diagnosis, you do have to start to find coping mechanisms or things that work for you to allow you to slow down. We live in a very fast paced society where, you know, hustle culture is a thing and, you know, we’re all strong, independent females here in this room, right?
And we’re, you know, we talk about how we have to, yeah, we’re doing it. We’re working hard, but you do have to have that reminder to, to slow down.
So, Arielle, thank you so much for joining us today. You’re a breath of fresh air.

COLI:
We really appreciate you, Arielle.

ARIELLE:
Thank you for having me. This is really exciting.

COLI:
Well, um, thank you, Arielle, for coming in and talking to Summer and I, and thank you all for listening to HAEVN Voices. Our goal is to foster candid discussions about HAE, particularly focused on the mental health impacts of the disease, and to share experiences and perspectives that support and strengthen our community.

SUMMER:
Thanks for listening to HAEVN Voices. HAEVN Voices is sponsored by Ionis, and participants are compensated for their time.

COLI:
The opinions shared today are specific to our individual experiences, which may not be representative of all patient journeys. If you have questions about your health, speak with your doctor. Stay tuned for more enlightening discussions and stories from the HAE community.

SUMMER:
Welcome to HAEVN Voices, a series that aims to address the unique mental health challenges associated with managing a chronic, rare condition like hereditary angioedema, also called HAE.

COLI:
With these conversations, our hope is to promote emotional well-being and create a sense of community by sharing personal stories, expert insights and practical coping strategies for living with or caring for someone with HAE.

SUMMER:
Let’s get into it.
Hi everyone and welcome to HAEVN Voices. I’m Summer.

COLI:
And I’m Coli.

SUMMER:
Today, we have the opportunity to speak with Danita, a published author and dedicated mother of four, including her daughter who lives with HAE. With her unique insights as a caregiver, Danita uses her storytelling talents to advocate for HAE awareness, highlighting that while it may be rare for an individual to have it, it’s not so rare for everyone to know about it. So, welcome Danita.

DANITA:
Oh, I’m so excited to be here. I really truly am.

SUMMER:
Yay! So, Danita, can you tell us a bit about yourself and maybe share your experience as a caregiver for your daughter?

DANITA:
Sure! I, you know, wife and mom, and my husband and I, were excited to start a family, and so we did. And our oldest son, he was that proverbial, super easy kid. He did everything in the book said that he was going to do, and we were excited about that.
And so, my second born, um, Ladybug, that’s our nickname that we refer to her as. I would say very early on, there were some challenges that we were meeting with her as far as like eating and, you know, keeping food down. Some odd things that I had not run into with our oldest son, but it wasn’t significant enough for me to be super worried, other than just being like, you know, okay, well we have to change formula, or we have to move over to this.
And so, as she as she began to grow and she was a toddler, there would be little things that she would say to us that we thought was really odd. And she would have these random episodes where her lips would swell, or her hands would swell, or she would complain about her feet. And, um, each time it would be an emergency room, or an urgent care and you know, every time they’d be like, well, is it her diet? Is it her, you know, what is she eating at home, or is there anything that she’s doing at home? And every time, I’m just like, I don’t know. I just know that, you know, one day she’ll come down the stairs randomly, and her face will look like this. And nobody had any answers for us.
We had been recommended to go to a different doctor, and I was very resistant to it at first, because I felt like we had, you know, we had been in this journey for years. And he was just like, I have a friend that I think you need to go see, because I think I know what I’m looking at, but I'm not totally sure.
And, um, we had another incident where we’re on our way to the emergency room, and um, she’s, she’s in trouble. I know she’s in trouble. And so, we get to the emergency room and they’re giving her all of the necessary, you know, medications to stop what is clearly a food allergy and her going into anaphylaxis. And even though they’re giving her all of these, you know, drugs, it’s not helping. The wheezing is still there. They’re looking in her throat, it’s closing up.
And so, we go for about a day, and nothing is happening. And finally, the pediatric ICU doc comes in and she says, we’re going to call the doctor that you just got and see if he has any suggestions, because we don’t know what else to do. And they call him, and he tells them, um, to give her a very specific medication. Then, so they say, okay, they go and they get it, they give it to her, and about two and a half hours later, she is back to her normal self. And so, then the pediatric ICU doc comes in, and she says, your doctor that we talked to, he wants to see you on Monday. And I go down, we go as a family, you know me, my husband and her, we go down on Monday, and he walks into the room and he says, I’m absolutely certain Ladybug has hereditary angioedema.
And when I really started to kind of dive into, you know, all of the symptoms, it explained everything from her birth all the way up until that moment, the swelling and the tingling in the fingers and the, you know, the random stomach aches that she would have. And so these epiphanies were coming, you know, like, oh, this explains everything. But the drawback to that sometimes is that when you have the explanation that also kind of opens the door to, um, a disease like this, it all can be equally as devastating.
And so, there was so much information that we were getting all at once, because now there were medications, and there were more doctors’ appointments, and me being this mom that is used to like my kid has a cold, I give them cold medicine. They get better. My kid has strep, we give them antibiotic, they’re better, you know. And so finally, you know, her doctor had explained to me, like, that’s not how it works, and you have to understand that with HAE, it’s very much a, um, you know, we’re going to have some great days, and we’re going to have some not so great days. We’re going to have some great months sometimes, and then we may have some not so great months. And it took a long time for me to really digest that kind of switch from mom to caregiver. Those are two separate parts of my brain, cause with a mom, you don’t want to hurt your baby, right? But as a, as a caregiver, I have to find this vein to get this emergency medication in you so we can avoid the hospital, you know. As a mom, I want to just hold you tight and make you feel better. As a caregiver, though, I gotta give you this shot, because if I don’t give you this shot, then we’re gonna have a not so great month later on. And so those are kind of the things that that if I could go back in time, I would, you know, tell my initial self, when I was kind of sitting with the heaviness of the diagnosis, at first, I would tell myself it’ll be fine.

SUMMER:
Wow. Thank you so much for sharing that story. That’s some powerful stuff.
And now, we so often talk about the adult experience of hereditary angioedema, and you know, Coli and I both being adults now, when we’re sharing our own experiences, you know, we’re able to verbalize and communicate how it impacted us. With children, you don’t have that same ability, right? And so, the caregiver becomes such a crucial role. And I’m very curious, you know, as a mother, as a caregiver, how did it feel having to be not only the voice, you have to listen, you have to be plugged in, you’re watching your child go through something and not be able to communicate. How does that take a toll on your own mental health?

DANITA:
It’s exhausting. I would not be a good advocate if I tried to mince words in that regard. Obviously, as as a child gets older and they begin to recognize certain things, it’s much, much easier. But in the very beginning, I didn’t have a grasp on how to balance anything, um, because you get in a mode of readiness. I liken it to like a tennis player. If you ever watch tennis, you know tennis players have that way of like they stand on their toes and it almost looks like they’re like tensed up and they’re ready to go. And what I learned from a friend of mine who plays tennis is that they do that because they don’t know which way the ball is going to come, they just have to be ready to hit the ball. And you do that in your head when you’re caring for a child that can’t technically verbalize what is going on.
And so there finally came a point where my husband was just like, I need you to take a break. And I was like, I can’t take a break. Like, what happens if I leave? He was trying to encourage me, like, take a momcation, just a weekend away. I was like, well, if I leave and something happens, and then by and I’m already, like, allowing the Jenga tower of, you know, madness to fall to the ground. And, you know, he kind of looked at me. He’s like, we have a plan though.
And that is when I was like, okay, well, maybe I need to kind of relook at this, and realize that while I would absolutely love to be supermom, um, it does no one any good if I continue in that space without any, like, breaks or any moments in between, even if it’s just being okay with, like, closing the door and taking a nap and like, saying, hey, give me, like, two hours, and then I’ll be back. And I think that’s where we have to rely on community, you know, rely on the people that are surrounding us. And I wasn’t doing that.

SUMMER:
Absolutely.

DANITA:
Yeah, you have to. You have to.

SUMMER:
That’s a great point. I know Coli, Coli, you’ve had a lot of experience from a caregiver perspective from your own mother. So, I know you know you mentioned often, sometimes it’s hard to understand what a caregiver is going through, and you were always trying to better understand your mom. So, it’s nice to have a mom in the room.

COLI:
Yeah, it really is. I feel like with her speaking, I feel like it’s my mom speaking to me because I gave her a hard time when I first got diagnosed with hereditary angioedema. Um, not realizing the toll that it could take on her. Um, just through all of those experiences that you’ve had, and I can imagine you’ve learned so much, and not just about the condition itself, but about what real support looks like for her, um, what have you learned about how to best like support somebody living with HAE?

DANITA:
There was a while there where she was the disease in my head, like she she wasn’t the little girl that loved to dance, that loved animals, that liked to play outside. As far as I was concerned, every time I looked at her, I only saw hereditary angioedema, and that’s how I treated her. And so, you know, it wasn’t until she had to do an assignment in school where they had to write about themselves and write about their talents, and I was helping her with homework. And she made a comment. She was like, I don’t know what to write, because I just have HAE. And I looked at her, and I was just like, oh my God. I was like, we, I did this. Every time that we engaged, it was her illness. Every single time that we went out, it was her illness. Like there was never a moment where she could just be, you know, the pre-teen that, you know, wanted to go to the mall and wanted to go to the store. And it was at that moment, I was just like, okay, I cannot make her synonymous with this. She is her own person that has her own hobbies and has her own, you know, likes and dislikes, that argues with her brothers and bonds with her little sister and loves to cook. Oh, and by the way, she has HAE. And I had to start looking at it like that. And then that kind of changed how I dealt with it. And I think that’s the advice that I would give to parents, like, let them be who they are. Oh, and by the way.

SUMMER:
That’s such a vulnerable moment to share. You know, I think it’d be hard as a parent to be able to admit that, that you see your child as the disease at first, and you have to find ways to crawl out of that, especially when you have a child who maybe is dealing with anxiety or fear around a new diagnosis, not fully understanding it. And so, I think, I really appreciate that perspective, because I’m sure there are a lot of people that that feel that way, and it feels like a burden. When someone is diagnosed with hereditary angioedema, it’s not just them that’s diagnosed, it’s their friends and family. The diagnosis is more than just themselves.
One last thing, I’m curious. You mentioned community, and Coli and I love to talk about how impactful community can be when diagnosed with a rare disease. Now, as a caregiver, um, is there something that you would find as the most empowering support in your role caring for your daughter? You know, you mentioned community, maybe that is like the main thing, but what is the most important support you find as a caregiver?

DANITA:
So, we have four children. Our oldest is now in college, and, um, there’s Ladybug, and then we have a set of twins that are about two years behind her. And when we would hit these stints in the hospital, you know, having multiple children is just a lot anyway. Having one that has, um, you know, a chronic illness that you’re constantly having to depend on while the other person is at home, kind of pulling everything together. And we are very much a tag team couple, because our kids run us in every direction. And little things help, like I had a friend that when she found out what was going on, she said, tell me every time you guys are in the hospital. And I was like, okay, fine. And so, I would do that. And then all of a sudden my husband would call me and be like, the doorbell just rang, and there are three bags on the porch.

COLI:
Oh, that’s amazing!

DANITA:
I never thought that somebody else worrying about dinner would take so much pressure off of us. Um, and that was my friend. That was what she decided she was going to do. I had other friends that would FaceTime me, and they would talk to her. Not realizing that just that kind of break of her talking to other people, or them making her laugh, or them making her smile, um, would give me a moment not to have to be on. Just the moment that I would need to kind of reflect or get my head back together.

SUMMER:
That’s amazing. Danita, thank you so much.

DANITA:
Oh, it’s my pleasure.

SUMMER:
Um, your words are impactful, and it really hits home and resonates how you know how scary it can all be and how important the caregiver’s role is. So, thank you so much for joining us today and sharing your story and teaching us about Ladybug and your journey. And it’s just been such a pleasure to meet you.

DANITA:
It’s been my pleasure to be here. Thank you so much for having me. Really appreciate it.

COLI:
Thank you for your transparency and just being open to tell your family’s story.

SUMMER:
Thanks for listening to HAEVN Voices. HAEVN Voices is sponsored by Ionis, and participants are compensated for their time.

COLI:
The opinions shared today are specific to our individual experiences, which may not be representative of all patient journeys. If you have questions about your health, speak with your doctor. Stay tuned for more enlightening discussions and stories from the HAE community.

COLI:
Hey, Summer.

SUMMER:
Hey, how are you? It’s nice to be back in person.

COLI:
Really nice to be back in person. How’s everything been going since the last time we’ve seen each other?

SUMMER:
Yeah, I mean it’s been a bit of a tough go, but we’re getting through it and every day is kind of different. There’s ups and downs, but it’s nice just to be back and get to chat and be with the community.

COLI:
Same here too. I feel like it’s been a lot of development, a lot of wins, and it’s just been really, really, really good. And I’m glad that I'm back here again. So, we can just talk about some life plans, HAE stuff and what we plan on doing going forward.

SUMMER:
For sure. What’s some of your main wins been this year? Anything exciting?

COLI:
Well, it’s a lot of exciting things. A lot of exciting things, but I think the one that’s most meaningful to my heart is being able to participate in Rare Disease Week on Capitol Hill and Washington D.C. and being able to go to different legislators’ offices right alongside my mom who was with me during my whole HAE journey. And just that in itself, if it was a steel picture of me, her walking down the hallways making a change, that right there would be just enough. And once we left there and was headed back home, we were able to get some great news that one of the bills that we were advocating for and talking to different legislators about was able to get passed and that a lot of rare disease patients were able to get access to stuff that they weren’t initially had access to. So that was a really huge win for me. What about you?

SUMMER:
That’s amazing.

COLI:
That was amazing.

SUMMER:
Well, I didn’t do anything quite that spectacular. I mean, just honestly, day by day getting through it has been my main win. I think in the last year, my HAE has gotten pretty out of control, so there’s been some challenges just with my health and having a few more attacks than usual. But I think just trying to stay in a positive head space has been really important and I’ve been trying to stay as active as I can and take care of my body and to the best of my ability, eat healthy. Even though I really, really love Kit Kats and I can’t help it.

COLI:
Me too.

SUMMER:
But yeah, life has been good. The community has been loud, which is nice. It seems like there’s more and more people starting to engage in conversations and talk more about how the disease is impacting them. And I think seeing that feels like a win as well, because if we can see the community coming together and having more conversations, it’s just more and more people that are starting to feel comfortable and that’s more people that might be getting diagnosed.
And I think that’s amazing and seeing all of your content from Rare Disease Week too, and I think that’s incredible. And it had to have been a really empowering feeling to be involved in that at that close of a level.

COLI:
Very much so. Very much so. It is something that you can just live on a high for a good month or so, and even times when I think back at it, I get a little piece of that high a little bit. But yeah, it is very, it’s meaningful work and it’s almost selfish to think that while I’m here and I'm able to talk to them, it’s so much bigger than that. It’s being able to help a whole community of people.
But what I do want to touch on is that you do have some great wins, you have a brand new job and you're a professor, and that can really go into good conversation as far as, because when, I know it's not really a learning curve for you because this is what you do, but being able to, was it a little bit different before as far as workload wise before and now having a job and how you manage that?

SUMMER:
So, we talked about careers and having HAE, it’s a very stress-induced disease. If you ever have a high stress lifestyle, it can really impact you. And for years, I loved my jobs in the past and was very fortunate with my career, but it was high stress, high stress, high travel, high everything. And it can really take a toll on your HAE. So, I've always loved teaching. And when a faculty position came up, it was hard to say no, but it is a much more calm lifestyle for me, which I am really enjoying.
Now, I’m able to take that step back and give back and be part of the educators and it’s been really great. So yes, you’re right. Thank you for reminding me of my wins.

COLI:
You’re welcome. You got to do that. Sometimes life can get pretty crazy and you kind of forget about what’s really good that’s happening, but definitely feel it more than the good stuff. But yeah, you deserve that. You're really amazing. Have you shared that with your team, that you have hereditary angioedema or have you had a flare up in front of them? You have to kind of explain it.

SUMMER:
I’ve had a couple moments where I’m teaching a classroom of students and I need to take a hot minute because my body is reacting to something or I'm starting to have something go on. The wheels are in motion and I’m very transparent that I am just going to take a beat. But I have been transparent with my colleagues, my boss, all that kind of stuff. And they‘re very kind, open and understanding about it.
How about you? How’s your mental health been these days?

COLI:
It’s been good. Good. I’m happy. I have my days. Of course. And I think we talked about that before as far as having HAE and knowing that stress can be a trigger, and then finding ways to handle that stress.
And I think one of my tidbits was being able to, one, listen to my body. Sometimes it can get a little agitated. At times I still feel as if my body is in this fight or flight mode to where it's still trying to protect me some type of way to where you feel this heightened sense of, okay, you're on guard about something. Like a fricking bear is going to run around the corner and come attack you, but nothing’s going on. And I’ve been doing a lot of breath work and just simply just sitting in my closet, putting my head back and just closing my eyes, praying and meditating and just giving myself that time to kind of think about, okay, why do you feel this way?
And that’s how I’ve been dealing with my mental health lately and talking about it more with my family, my mom, being vulnerable with that. And she’s learning too in a way because she’s a mama bear. So, when I come to her with things, she automatically want to get a solution to it. And the other day I had to let her know right now, I don’t really need you to give me a solution. I just want to get it off my chest. I’m not trying to be mean. I’m really not trying to be mean right now. I really don't want a solution right now. I just really want you to listen. And then that was a big moment for us. So mental health, just talking it out with family, being vulnerable and being able to just take time to myself and do some self-care. So that’s how it's been going lately.

SUMMER:
Amazing.

COLI:
Yea, it’s been good. Not good every day, not good every day.

SUMMER:
But that’s natural, right? And I think we’ve talked about that too, that you need to be able to accept the good and the bad days. And I think I’m so happy for you that you're able to have that sense of normalcy and that’s got to feel good. Not saying you’re not going to have bad days, of course you're going to have bad days, but what’s been the most positive aspect of that for you? Just getting a little bit of that life back.

COLI:
I can honestly say I got myself in a great mental space, I’m in a much healthier head space to be able to deal with it.
I think I told you yesterday, Summer, you are so positive. And I think the best part is now having a more support group and with you being now included with that. So yeah, it is been good, but it is getting better. And if it gets worse then it’s okay.

SUMMER:
Yeah, I’m happy to hear. I mean, I’m not told often that I’m a good influence.

COLI:
You are a good influence. This is great.

SUMMER:
You’ve definitely built a lot of resilience and I think resilience in our community is important. It can’t be forced either. It takes, you really have to sit with the disease and sit with the things that come with the disease, but I feel like resilience can be built over time.
And you’re the only one that can feel that. I feel like I have built a lot of strength over the years, but just like everyone else, you have moments where you break down a little bit and you get mad or you get sad or you start to get in your feels a little bit. And I know this year I've definitely had a lot of moments, but I’ve tried to lean a lot on the community and on those friendships and even on my family as well, if I’m not having a good day or I’m frustrated because I’ve had a few more attacks than usual, just trying to be open and honest about that. And also, really listening to my body as well, because I mean the disease and what we learn about it evolves over time.

COLI:
How has that changed for you? Do you see new symptoms now or because HAE is so complex, can you talk more about the symptoms that you have? I feel, like, a spark within me when I talk to you about that. When we talk about the complexity of the disease and what similarities we have and some that we don’t because it's like, oh, I never heard of that then can you talk more about that yet? So, what about you?

SUMMER:
Well, lately there’s been a lot of stomach swelling and I like to kind of joke about pregnant belly, I’ll get a swell and it’s definitely gotten worse where it’s really, really protruding and painful.

COLI:
I’m sorry.

SUMMER:
And because I’ve been seeing a lot more of the throat and seeing the stomach swelling get more advanced and I’m getting older and things in your body change and your hormones change and there’s all these unknown variables that we don’t necessarily have answers on.
So, I start to maybe have moments of panic or fear around, well, what does that mean for the next chapter and what am I supposed to do to track or prevent this or work through this? But again, good days and bad days. Right? So, although things have been changing and evolving, I know that I’m still in a good position. I do take care of myself and trying really hard to continue to learn, meet new people, read all the new research that's coming out on a regular basis and educate as much as possible because that’s all we can do and we just have to keep talking because the more that we talk, the more that we learn and the more that we can remain connected.

COLI:
Yeah, I think, first of all, I want to say that I know exactly what you’re talking about. I know exactly what that feels like. And I honestly want to say that you are the reason and people like you are the reason that I advocate because it doesn’t make sense that people are dealing with that in this day and age. But being that it is so complex and that everything is just so complex with this, it seems very confusing.
Especially something that came into your life without permission. You know what I mean?

SUMMER:
Everyone’s going to go through ups and downs. But again, I think that’s why the advocacy part is so important because imagine if we didn’t have these conversations or we didn’t talk openly about our fears or the parts of our worlds that have gotten better or just any of it. Being able to have those conversations with each other and share makes all of the difference. And I think in the community right now, like I said, I’m starting to see more and more people have conversations. I’m starting to have people reach out on social media being like, hey, this is what I’m experiencing and there's almost becoming this wall that’s coming down. And I know that’s not going to be the case for everybody, but the more that we openly talk about what we’re all going through or the things that we’re struggling with being open about the medical community, about advocating for ourselves, I think the more we’re going to start to see that wall drop even further.

COLI:
You are so freaking strong, Summer.

SUMMER:
But imagine if you dwell, right?

COLI:
Yeah, yeah, I know. I understand. Let me cry for you then.

SUMMER:
Yeah, right. I need someone to cry for me sometimes. I appreciate you. No, it is, it’s important. I think that I’m really grateful for you and for the conversations that we have both on this podcast and off it as well. And just the fact that we've been able to form a very fast friendship. I’m grateful for it and grateful for the community that’s all around us.

COLI:
Yeah, this really matters. It really does matter.

SUMMER:
We’ve had some pretty amazing guests so far. I mean it’s nice to get to know more people from the community and kind of form that connection and I mean, we have this interesting and very intricate friendship as well.
But it’s nice and I feel like some of the people that we've met, it’s becoming that way too. Everybody we meet, and it’s not even in just the HAE community too, a rare disease community as a whole. There’s this bond that’s automatically formed from going through something really challenging as a group of people.

COLI:
Yeah, I think so too. Every time I speak to you or every time I speak to somebody else with HAE, it’s like a spark. It’s like this person really knows knows me.

SUMMER:
I’m curious to find out more about people being unapologetically themselves, being able to take that curtain down.
It’s so earnest, right? And I feel like we don’t always get the opportunity to be our true selves with other people.
I know when I was going through the process of learning about the disease and trying really hard to always be strong. And I think how I apply that to other parts of my life too, right? When life gets hard, I feel things and have strong emotions, but my face doesn’t always show it. But I think that kind of feels like a mask sometimes because I'm not necessarily showing what I’m truly feeling. So, it is nice to have conversations where you can really truly express how scary or how sad or how happy you are about something.
I think the more people we meet, it teaches me how important community, connection, those things are so critical. Having a good community in my corner is that reminder that I need on the hard days.

COLI:
But it’s kind of like, okay, let’s build this conversation. Let’s talk. Let’s get to know more about you and just listening. And it’s crazy that it’s helped me in that way. I no longer feel like I have to hide myself because what if a conversation comes up about me and I have to explain myself about something, but now talking to you and talking to others, that really has helped me overall and I can’t say how much this spot with HAEVN has really evolved me and helped me out and I really hope it does that for a lot of other people too.

SUMMER:
Well, I’m excited for what the future holds too, and I’m excited for all the new people we’re going to get to talk to this year and it’s going to be a good year.

COLI:
It will be.