The Mix Tape: Ep. 1 — Living Fearlessly as a Rare Disease Patient and Caregiver

When living with a rare disease, it would be easy to cope and become resigned to your fate, but this Mix Tape episode is about living fearlessly! Today, Mix Talent recruiter Emma Borreggine talks with Justin Borreggine, co-founder of DEFY Foundation. DEFY is a non-profit organization dedicated to raising awareness and research funding for Vascular Ehlers-Danlos Syndrome, or VEDS.

Transcription

Unison –
Welcome to the Mixtape.

Valerie McCandlish:

I’m Valerie.

Natalie Taylor:

And I’m Natalie.

Valerie McCandlish:

And we’re back with season two of the Mixtape. If you are joining us for the first time, we are so excited for you to listen to this episode, and then when you’re done, obviously, go back and binge all of season one so you can catch up before the one comes out next week.

Natalie Taylor:

Exactly. That’s what I do in Netflix. If you are new to us, we are a life science and talent acquisition focused podcast, featuring topics from industry leaders, HR professionals, and patients. If you’re a returning listener, you’ll recognize some familiar voices this season as some awesome new guests. We’re so excited to share this season with you, and we appreciate you taking the time to listen.

Valerie McCandlish:

This month, if you don’t know, is February, which means it’s Rare Disease Month, and there are over 300 million people living with rare diseases. Here at Mix Talent, about 25% of our clients actually are in the rare disease space. So we really like focusing on what we can do to raise more awareness about rare diseases. Every year, we actually celebrate rare disease day by having a guest speaker, and that’s actually how I first came to know our guest on today’s episode, Emma, because she was a guest speaker for us at Mix, when we had Rare Disease Day, last year. She came and talked about her own personal experience, living with a rare disease, then later, because she actually worked in the pharmaceutical industry, decided that she wanted to pursue a career in recruiting. And now she works here at Mix, she’s on my team. I absolutely adore her and she is so wonderful to work with.

Valerie McCandlish:

She is going to be talking to us today about VEDS and the chances of the genetic condition being passed down are about 50/50, and unfortunately those odds have been devastating within her family. Her family history traces back to her grandfather who passed away at the age of 48 from a vascular event that at the time was not attributed to VEDS, but we can now identify that as the result of the disease. Since then, she has unfortunately lost two uncles at age 40 and 42, her father at age 49 and also her brother at age 25. But in spite of her family history, her parents had left the option of being tested for VEDS up to each of her siblings. And it wasn’t until her brother’s passing at such a young age that she actually made the decision to do so herself, leading to her own diagnosis back in 2014. With her cousin and uncle also being diagnosed, her family’s current total is eight VEDS diagnosis. Although with not everyone having yet been tested, there’s still the potential to see more in the future.

Natalie Taylor:

So for those of you who are unfamiliar with VEDS, it is a rare disorder that weakens the body’s connective tissue. Connective tissue is like a glue that supports different parts of the body, like the skin, eyes, and heart. It gets strength from a protein called collagen and normally collagen keeps the tissue elastic and able to stretch without tearing. Weakened connective tissue can lead to less serious complications like bruising or more serious events like ruptures in arteries, intestines, and organs. This is a really touching story that we’re going to hear today from Emma and her husband, Justin. And it’s an honor to have Emma with us today on the podcast. I knew Emma before I met her really. Emma’s dad, Mike was a client of my dad’s and he was a great friend to many of our Mix family members.

Natalie Taylor:

I have always heard stories that Emma’s dad was such a wonderful man with an infectious positivity and a zest for life. And I can see that trait has been passed down to Emma, and Val, I’m sure you can attest to that, working with her on the same team every day, but she is a lovely person who is so wonderful to be around. And we’re just so happy that she’s with us on the Mix team. So without further ado here is living fearlessly as a rare disease patient and caregiver.

Emma Borreggine:

Hi, everyone. Welcome to the Mixtape. My name is Emma Borreggine and I’m a Recruiter here at Mix Talent and also a rare disease patient. And today I’m joined by my husband, Justin Borreggine. Justin is a Client Service Manager at LifePlan Group and investment firm here in Raleigh, North Carolina, and is also the co-founder of the DEFY Foundation, which we will be learning about a little later on. Welcome to the Mixtape, Justin.

Justin Borreggine:

Thanks for having me.

Emma Borreggine:

So as we head into rare disease awareness month today, we are going to be talking about learning to live fearlessly with a rare disease diagnosis. So to kick us off, Justin, can you give us some background on the rare disease we’re going to be talking about today?

Justin Borreggine:

Yeah, sure. So we’re going to talk about Vascular Ehlers-Danlos Syndrome, otherwise known as VEDS. So VEDS is a connected tissue disorder, that’s caused by a genetic mutation and this mutation affects the body’s production of collagen. Now collagen is the glue that keeps your body together, and as a result, VEDS patients are at a high risk of arterial ruptures, organ ruptures, and other types of vascular events. Since they are at a high risk for these event, anything that puts a high strain on the body, pregnancy, surgery, can result in very severe complications.

Emma Borreggine:

Okay. So we know it’s a rare disease, just how rare is it?

Justin Borreggine:

Right now the numbers are about one in 50,000 people are diagnosed with VEDS. But as we know, when you were diagnosed about seven and a half years ago, we’ve seen a big change. That number was about one in 250,000 people. So we see more people being diagnosed now and correctly diagnosed.

Emma Borreggine:

Which is great, especially within the VEDS communities, and so many patients don’t realize that they have this condition until they have one of those serious complications or events that you were talking about. It’s great to know that doctors are being able to identify these patients more often.

Justin Borreggine:

Yep.

Emma Borreggine:

So what is the prognosis and what are the treatment options currently available for VEDS patients?

Justin Borreggine:

So the average lifespan of a VEDS patient is about 50 years, and unfortunately there are no treatments. So it’s recommended that patients get scanned every year just to make sure that their vascular system is in good health. And a lot of patients are also on blood pressure medication and that blood pressure medication takes that strain off of the body.

Emma Borreggine:

And since we know they’re at high risk, because of that additional strain, we also know that maybe avoiding some activities, you mentioned surgeries can cause complications, but we also know maybe contact sports, some high stress activities can have an impact as well.

Justin Borreggine:

Yep, exactly.

Emma Borreggine:

And so with this being a rare disease, obviously most people have never heard of Vascular Ehlers-Danlos Syndrome, including me and my family. How were you introduced to VEDS?

Justin Borreggine:

So I was introduced via you. We met in the summer 2014 and shortly after you were getting tested for VEDS, we were still in college. I remember going back to my dorm room and going online and searching what it was and it was scary to see what that was. And then of course from the time you were tested to when you received your diagnosis, you filled me in on your family experience and how that has impacted you.

Emma Borreggine:

Yeah, absolutely. They always say, “When you hear of a diagnosis, don’t run to the internet to find out more about it.” But unfortunately-

Justin Borreggine:

Unfortunately, that was the only choice we had to do.

Emma Borreggine:

It was really unfortunately the only choice, and even for me, having had the experience of already being familiar with VEDS for over 10 years, by the point that you were being introduced to it, the internet was our go-to. Unfortunately there wasn’t a lot of information available, and so it was really a matter of us trying to piece things together based on what we experience in our family, what little information we could find online. And so even for me, as the patient coming to you and trying to introduce you to it and educate you on what I was going through, it was hard for me to do so because there was a lot of information that I still didn’t have at that time.

Justin Borreggine:

Sure, absolutely.

Emma Borreggine:

So since then, we’re talking seven and a half years later at this point, you’ve learned a lot, we’ve both learned a lot, become more experts in this disease.

Justin Borreggine:

I wouldn’t say experts, but we’re doing our best.

Emma Borreggine:

We’re doing our best, it’s a journey. But what has been the biggest challenge for you in managing this disease and what lessons have you learned from it?

Justin Borreggine:

Yes. So let’s start with the challenge. It’s mentally exhausting. It is so tiring. It’s always in the back of your mind. There are days not that you don’t think about it, but some days are better than others, but it’s still always there. And so you’re always waiting for the shoe to drop, because as I mentioned earlier, it’s episodic and so we never know what is normal pain versus what is actual I need to go to the hospital. Yeah. What requires an emergency room trip. And we’ve gone to the emergency room multiple times. We’ve had a few experiences where we weren’t sure, and obviously it’s better to play it safe, but that takes a mental toll, that takes a mental toll on the patient advocate and obviously the patient as well. But a lesson learned is, take every day, one day at a time and appreciate life. As cliche as it is, you don’t know what tomorrow brings. So enjoy it, enjoy it while it’s here. So that’s something I’ve learned and I guess you. It’s a blessing in disguise in some way, shape or form.

Emma Borreggine:

Trying to find the silver lining.

Justin Borreggine:

Exactly.

Emma Borreggine:

Yes. I’m glad that you shared that mental toll piece of it. One because I 100% grieve from the patient standpoint, that mental aspect and that anxiety of the unknown and what could happen is one of the hardest, if not the hardest part of living with VEDS. And so I’m glad you bring it up from that perspective, but also because I think it’s important. As important as it is to hear the patient experience and to hear what patients go through and what challenges they face, I think it’s also really important that we talk about the experience from the standpoint of people like yourself, a spouse, a family member, a caretaker, the people who are surrounding these patients, because those people are being significantly impacted just like the patient is being impacted.

Emma Borreggine:

They’re experiencing those challenges right alongside with them. And so I think it’s important that as we continue to give patients a platform to share those experiences and what they’ve been through, we’re also giving that same platform to those people surrounding the patient. So I’m glad that we’re able to discuss it from a different perspective as well. So that fear of the unknown, right. Everybody, at some point in their life is experiencing some fear of the unknown. Most people like to feel some control over the things in their lives. And so really with VEDS and with any diagnosis, I think that fear of the unknown is really just increased and heightened to a new degree.

Justin Borreggine:

Yep.

Emma Borreggine:

Because that sense of control is really taken away from you. And so with that in mind, something that we’ve adopted in our household and within our community is this idea of living fearlessly. Can you talk about what living fearlessly means to you?

Justin Borreggine:

Yes. So living fearlessly, it’s not about living without fear. Everyone’s going to have fears, we understand that, but it’s not letting that fear dictate how you go about living your life. And that’s easier said than done, but we don’t want you to be defined by your diagnosis. You can still define what that diagnosis is to a point or how you respond to that diagnosis. We want you to be able to live life to the fullest in a way that is manageable to do so.

Emma Borreggine:

Absolutely. And I think that’s a really important distinction, right? Is it’s not about living without fear. We recognize that these diagnoses are scary. That’s just the reality of it. There’s going to be fear, they’re going to come with trauma and grief and pain and daily challenges. And so we have to validate that those feelings of fear are normal and they’re going to be experienced, and there’s going to be days when that is going to be what you experience more than the positives.

Justin Borreggine:

Right.

Emma Borreggine:

And so living fearlessly is not about living without that fear, it’s living in spite of that fear. And it’s being able to say, “This is a scary situation. I don’t know what’s going to happen, but in spite of that, I’m still going to dream. I’m still going to have hope. I’m still going to reach toward my goals. And I’m still going to remember all of those things that I had prior to my diagnosis about who I am and what I want to accomplish.”

Justin Borreggine:

You’re still you, you’re the same person. You can still keep the hopes and the dream and the goals that you had. Yeah. You’ve now got an obstacle in your way, but that doesn’t mean you can’t overcome that in some capacity. And as we said, it’s much easier said than done and it looks different for everybody.

Emma Borreggine:

Yes.

Justin Borreggine:

But I think it’s important to at least try to live your life that way.

Emma Borreggine:

Yes. Yeah. And so for you, and I know for myself as well, that mentality of living fearlessly has been a great coping mechanism for us as we’ve navigated these new obstacles and challenges. Living fearlessly has been a very helpful coping mechanism for you. And I know for myself as well. What else have you done to help cope or manage with this diagnosis from the perspective of somebody who’s taking care of a patient?

Justin Borreggine:

I’ve had to do my research. I didn’t expect it to try to become an expert and I’m not an expert, but I didn’t expect to try and know VEDS like the back of my hand, but here we are and that’s because we need to advocate for you. You need to advocate for yourself, and so having all of that knowledge it’s quite empowering to be able to… If you had to go to a hospital, we’ve experienced this going to a hospital and a doctor or nurse may not be incredibly familiar with VEDS and that’s okay. Doctors have enough stuff to know about, but to be able to have a discussion and say, “From my experience, this is what we’ve seen, let’s put our minds together and see how this goes.”

Emma Borreggine:

Sometimes you have to become that educator for people who may not be familiar [crosstalk 00:16:35] it is a rare disease and we didn’t know anything about it until we were in a situation where we had to know about it. And so being able to take on that role for other people who may have never heard of this and help them learn what it is, what is the best protocol? And some of those cases-

Justin Borreggine:

You keep a little folder in your purse that it lists your history, your family history, what VEDS is, what are the best way to handle it in emergency situations. So it’s important to have all of that down pad.

Emma Borreggine:

Yeah. That knowledge is power and-

Justin Borreggine:

Correct. Absolutely

Emma Borreggine:

Being prepared as much as you can. We’ve been talking about how some of that control can be taken away from you. And so any piece of that control that you can bring back, even if it’s in small ways can be to your point definitely empowering.

Justin Borreggine:

Yeah, absolutely.

Emma Borreggine:

Great. So speaking of advocacy, being a patient advocate, not only have you become a patient advocate for me, but you’ve also become a community advocate through your work with DEFY. Can you talk a little bit about what inspired you to start DEFY and where that has led over the last few years?

Justin Borreggine:

Yeah. DEFY is a 501(c)(3) organization. We started it together back in 2014. So it’s about a month after your diagnosis and you mentioned in the last question, taking back some of that control and for me that was how I coped with this. There isn’t enough info out there, so we need to do something then, right. We need to try and help bring some of this awareness and funding, whatever that looks like, and so that’s what we did. The whole idea was just to really just to bring awareness, right. And we wanted to do a 5K, and so we did, we did that at the beginning spring of 2015, and it was a huge success.

Justin Borreggine:

We could not have imagined it being going the way did. We heard from people that they wanted to do this again, and I thought, “Okay, well, maybe this becomes bigger than we intended it to be.” And how exciting is that, knowing that we’ve got the support from the community. And so we did. And so a couple months later, we went ahead and we registered with the IRS as a 501(c)(3) nonprofit, and we got the ball rolling. And so we have our yearly events, 5Ks and the golf outing that we do up in Michigan. We do our international symposium, we started that four years ago now. And that’s exciting being able to bring the scientific community together to get them into a room and allow them to have unfiltered discussions, essentially that may not happen outside of that.

Emma Borreggine:

That cliche of teamwork makes the dream work, as cliche as it is I think it’s so true, especially in the rare disease community that it does take everybody. And when those resources are already spread thin, we have to make sure that we’re gaining as much momentum as possible. And so it sounds like DEFY has been just a great way to do that for the research community.

Justin Borreggine:

Absolutely.

Emma Borreggine:

I know beyond these scientific conferences, which have been an incredible way to bring the community together and allow them to collaborate and share what they’re working on and not be so siloed in the work that they’re doing, you’ve also been able to support specific research initiatives as well.

Justin Borreggine:

Correct. Well, to make a point on the scientist, it’s so great to see them come together because they want to come together. They want to have this ability to discuss their findings. We didn’t feel like we had much support seven years ago, and that has changed dramatically. People do want to make a difference. The scientific community does want to make a difference. They just need some help as well, and that’s okay.

Emma Borreggine:

Yeah. And I think that perspective has also been really helpful, when you’re on the outside and when you’re newly diagnosed, especially in the rare disease world, it can be very easy to feel like nothing’s happening. Nothing’s being done. Progress is moving so slowly. I don’t see a treatment on the horizon, what am I supposed to do? I’m just on my own here. And so what has been great about DEFY it’s given us that inside look into, look how much is actually being done and look how passionate and dedicated these people who are working on these diseases are. And so from the outside, well, it may feel like we’re always going to want everything to move faster, but there is so much momentum in that ball is moving forward, and these researchers and these clinicians are at the heart of that. And so it’s been really exciting to be able to support them.

Justin Borreggine:

Absolutely.

Emma Borreggine:

Yeah. So it sounds like DEFY really epitomizes this idea of living fearlessly. You took a diagnosis that could very easily be overwhelming and disheartening. And in the span of a month, you went from receiving this diagnosis, learning about this disease and what it was capable of doing to turning that into an opportunity and shifting the focus from the negative to the positive and to hope and optimism. And so I certainly applaud you for doing that and being able to really take that in stride and really, like I said, epitomize this idea of living fearlessly in spite of this diagnosis.

Justin Borreggine:

Well, you should be applauded as well, because I don’t have the disease, you do and it affects me absolutely. But you did not have to… You could say, “I don’t want to, we’ll, let someone else handle this. I don’t want to have to look at this every single day.” So more power to you on that end as well.

Emma Borreggine:

Yeah. So seven years into DEFY now, looking back, what changes have you seen in the community and in the VEDS community with the state of things that bring you hope?

Justin Borreggine:

Yeah. Resources. Absolutely. When we started this podcast, this episode, I said, when I did my research online seven years ago, I couldn’t find anything. And now people don’t necessarily have to have that same fear that I may have experienced, or that you experienced. We’re seeing emergency room guidelines, support for genetic testing, national and international patient support organizations that get together in person or get together via Zoom. There’s just so many different options now, and that’s so important. We’ve also seen that the community has become a lot more centralized. People aren’t siloed now, people are getting together and we’re putting minds together to see how we can best utilize everyone and not double up on work and this and that. And I think the most exciting right now is we’ve got two clinical trials on the horizon. I could not have dreamed that seven, eight years ago. So that’s incredible.

Emma Borreggine:

It is. It is. Just talking about the resources that are available. I remember we’ve talked about this, my first experience shortly after being diagnosed and going to see a geneticist was basically told you can take maybe some vitamin C that could be helpful, maybe some blood pressure medication, although we’re not really sure how helpful it is and avoid contact sports, don’t go skydiving and don’t become a weightlifter. Beyond that, we’ll just wait and see what happens. And for a patient who’s facing a diagnosis like this, it’s just so defeating to be facing a doctor and receive that information and to be told, “We’re not really sure what’s going to happen. And we’re not really sure what we can do to stop whatever’s going to happen from happening.” And that whole wait and see approach is something that can be really, really difficult to cope with and just extremely disheartening.

Justin Borreggine:

It’s a very heavy burden.

Emma Borreggine:

And so that feeling of hopelessness really has just transformed in the last few years. And it’s been incredible to see that patients, many of them for the first time are feeling hopeful. And we talk about hope being such a powerful thing, it can carry people through the most difficult things. And so that hope is just so powerful and seeing how that is coming to fruition, not just within VEDS, but I think seeing the momentum that the entire rare disease community has, has just been extremely impactful.

Justin Borreggine:

Yeah. We gave kudos to the scientists a little while ago, and yet we need to get kudos to the rest of the community as well. They could have just said, “This is it and we’re just going to deal with it.” And they don’t want to, and they shouldn’t, and more power to them for having the courage to try and beat this.

Emma Borreggine:

Absolutely. So Justin, knowing what you know now from the last seven years, being a patient advocate for me being involved with DEFY, what advice would you give somebody who is facing a rare disease diagnosis, either for themself, for a family member or somebody who wants to get involved?

Justin Borreggine:

Yeah. So just learn as much as you can, that will allow you to be the best advocate for yourself, for a loved one. If you want to get involved, there’s so many different ways to do that. Anyone can make a difference. We were just in college when we started DEFY. You need to find what you want to be a part of, so that can be research on the science end of things, awareness, fundraising. There are so many different avenues that you can participate in, every little bit helps.

Emma Borreggine:

Yeah. And it really goes back to that, see a need, fill a need idea, which is great. Well, thank you for all your insight today, Justin, and-

Justin Borreggine:

Thank you for having me.

Emma Borreggine:

Spending some time with us.

Justin Borreggine:

Yeah. This is great.

Emma Borreggine:

To wrap things up, there are a couple questions we ask all of our guests here on the Mixtape.

Justin Borreggine:

Okay.

Emma Borreggine:

The first one, what is the best interview question you have ever been asked or asked?

Justin Borreggine:

Yep. So it was not something I had been asked, but it was more of a request. And so I was requested to teach the interviewer something, it could be anything I wanted. And so I taught them how to form a nonprofit, which most people don’t know how to do.

Emma Borreggine:

And did you get the job?

Justin Borreggine:

I did.

Emma Borreggine:

I like that question. That’s a good one.

Justin Borreggine:

Yeah.

Emma Borreggine:

And then you can’t have a mixtape without a playlist.

Justin Borreggine:

Yeah.

Emma Borreggine:

So what song would you like to add to our mixtape playlist?

Justin Borreggine:

I wish I had you write down your guest before this, so I’ll choose the Pet Sounds album from The Beach Boys and a song from there, I would say, Here Today.

Emma Borreggine:

Excellent choice.

Justin Borreggine:

Thank you.

Emma Borreggine:

Awesome.

Justin Borreggine:

Alrighty.

Emma Borreggine:

Thanks for your time again.

Justin Borreggine:

Thank you for having me and thanks to Mix for allowing us to talk about VEDS and their dedication to rare diseases.

Valerie McCandlish:

Thank you so much to Emma and Justin for joining us for the podcast today and giving us just such an inside perspective to what it’s like to not only be someone who is living with a rare disease, but also from the perspective of a caregiver. Because I don’t think we always get that type of lens into what it’s like to live in a family, and you have to really advocate for your family member. But also there’s a lot of responsibility that’s put on you to learn about the disease, to make yourself knowledgeable so that you can be both supportive to the person in your family, but also to those that you come in contact with to really raise even more awareness about what they are living with.

Natalie Taylor:

Right. And I have so much admiration for Emma and Justin, because like they mentioned in the episode, you can take this diagnosis and just live with it and not want to have to think about it, even more every day, or you can do what they have done and take action and help others and create this foundation. It’s remarkable what they’ve done and the progress that they’ve helped facilitate.

Valerie McCandlish:

Completely agree. And I thought it was interesting too, that Emma had mentioned that after receiving her diagnosis, that she’s just hit with all of these things that she can’t do anymore. And I think that a certain point probably gets to be just a lot when you’re told all of these different things in your life that are normal to others, that you can’t do them anymore. So to then have the thought, “Well, I’m not going to let this dictate my life.” And instead be able to see all the things that you can still do is really inspiring.

Natalie Taylor:

If you want to hear more from Emma, she is featured as one of our rare disease heroes this month. She has a feature on our LinkedIn page and she is also featured on a blog on our website. So definitely check out our LinkedIn page and our Instagram to hear more from her around her story.

Valerie McCandlish:

Exactly. And if you’re looking for more information on Rare Disease Day in general, Mix Talent has been posting about it all month. You’ll see that we all changed our stripes in honor of the colors of Rare Disease Day. And if you want to support rare disease recognition and a call to action for yourself, us Mixers are going to be getting out and walking 7,000 steps on Rare Disease Day in recognition of the over 7,000 rare disease that have already been identified and the countless more that are yet to be diagnosed.

Natalie Taylor:

That’s awesome. I’m excited for Rare Disease Day.

Valerie McCandlish:

Yeah, me too.

Natalie Taylor:

It’s always so fun at Mix, we get to do so many fun things.

Valerie McCandlish:

I know. And speaking of fun, we get to add another fun song to our playlists.

Natalie Taylor:

Yes. We do. We love a good Beach Boys tune. We’ve had a few on the podcast now.

Valerie McCandlish:

Yeah.

Natalie Taylor:

So that’s exciting. So make sure you check out our Spotify playlist as well as follow our episodes coming out every week and follow us on LinkedIn and Instagram too.

Valerie McCandlish:

And with that, thanks for being in the Mix. We’ll see you next week.

 

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