A Physician, a Rare Disease, and the Art of Being Present with Dr. Lyndsay Hoy

When Lyndsay Hoy, MD, began her anesthesia residency at the Hospital of the University of Pennsylvania, her life took an unexpected turn with a diagnosis that would redefine her path. Within 36 hours of experiencing symptoms, Hoy was diagnosed with lymphangioleiomyomatosis (LAM), a rare and progressive lung disease that primarily affects women of childbearing age. Balancing the demanding roles of clinician and patient, Hoy’s journey has been marked by resilience, advocacy, and personal transformation. From navigating her marriage to fellow physician Vincent Nguyen and pursuing IVF for embryo preservation, to championing rare disease awareness and serving as Chief Mission Officer of The LAM Foundation, Hoy’s story offers a profound look at the intersection of medicine, personal health, and structural inequities in healthcare. In a compelling podcast episode, she shares her experiences with host Mike Sacopulos, shedding light on the challenges of invisible illnesses, the complexities of dual-physician marriage, and her commitment to improving care for rare disease patients.

This transcript of the discussion has been edited for clarity and length.

Mike Sacopulos: I briefly mentioned that you have a very interesting background. Can you tell me about your path to becoming a physician leader?

Lyndsay Hoy, MD: Well, as you kindly began with, I am a co-founder of a medical humanities initiative — but I would actually widen the lens and back up a little bit and really link my somewhat unusual path to where I am today to a confluence of factors that emerged during the very first week of my anesthesia residency at the Hospital of the University of Pennsylvania. My chest filled with liters of lymphatic fluid, making it difficult to breathe. I’ve started describing that period as learning to do the work of breathing for others while also learning what it feels like to quite literally lose my own air. My physicians were appropriately concerned, which prompted a rapid workup, and I was fortunate to be diagnosed within 36 hours of onset of my symptoms. The CT scan demonstrated innumerable tiny cystic lesions, which together with the clinical picture was pathognomonic for a very rare lung disease called lymphangioleiomyomatosis — LAM for short. It’s an estrogen-sensitive, progressive lung disease with a predilection for women of childbearing age. That really upended the trajectory I had envisioned for myself as a physician, and it is kind of where my path to where I am today began. I was fortunate enough to return to clinical training after a number of weeks once my acute medical issues were managed. But my experience in training, and then as an attending physician, has always been shaped by the duality of being simultaneously a clinician while also a patient. I have never been one without the other. That confers a very unique lens in which to move through the healthcare system and to better understand the clinical encounter — but it is also a challenge and a burden, and it can be quite heavy to carry. That ultimately led to my interest in exploring conversations and spaces where clinicians are perhaps suffering or have invisible burdens. How do we carry that alongside excellent clinical care, while also learning how to be more present and empathetic for the patients we are tasked to care for?

Sacopulos: Is this something you find is not typically taught in medical school?

Hoy: Well, I went to medical school quite a while ago. By now I think there is much more of an effort to integrate a more holistic, humanistic approach to clinical care in recent years. The COVID-19 pandemic certainly brought that to top of mind for many training institutions. But when I went through medical school — before my rare disease diagnosis — it was not as emphasized as I think it could have been. I do think that culture and that expectation is changing. Medical students and trainees are looking for those spaces and those conversations so that they can feel more attuned to what patients are going through, and also more connected to one another and to themselves as they go through the rigors of what it means to become a physician.

Sacopulos: You recently wrote an essay for AAPL’s compendium Lessons Learned: Stories from Dual-Physician Marriages . Your spouse is a physician. Can you tell me about him?

Hoy: Happily. My spouse’s name is Vincent. We were very kindly invited to co-author an essay that became a chapter in AAPL’s compendium on dual-physician marriage — just such a unique and lovely collection of testaments and lived experience on what it means to be truly immersed in medicine, both professionally and personally. I met Vincent at the University of Pennsylvania at the onset of both of our training. He was an internal medicine resident at the time and is currently practicing as an interventional cardiologist. He is extremely accomplished — but even more, he is an extraordinary individual and an even better husband. His presence and willingness to stay during those acute moments of my rare disease diagnosis truly shaped the trajectory, not just of our relationship, but of my life and the path I’m on now. It was actually Vincent who, scrolling through the slices of my CT scan — I remember so clearly where we were, sitting on bar stools at our kitchen counter in our tiny one-bedroom apartment in downtown Philadelphia — he was the one who knew what LAM was. Penn is such a broad and well-resourced institution that they see the so-called zebras all the time. He looked at me and said: ‘This is progressive. There’s no cure. It’s estrogen sensitive.’ And then he was silent. I knew in that moment that my life — our future together, if we had one — was going to be transformed forever.

Sacopulos: Your essay opens at the Rodin Museum in Philadelphia, with the Gates of Hell standing beside you on your wedding day — a deliberate choice. Tell us how the essay came together and what you most wanted it to say.

Hoy: It really began with that image of the Gates of Hell standing beside us, and the question of what it means to say your vows — to promise to one another that you will build a life next to something ominous like that. Not to conquer it, not to pretend it’s not there, but just to stay present beside it. We married in June of 2016 in the courtyard of the Rodin Museum. The Gates are imposing and totally awe-inspiring — six meters, cast in bronze, with more than 150 figures suspended in literal agony and suffering. Rodin spent many decades on this piece. It was initially commissioned to depict Dante’s Inferno, but in my experience of standing in front of it, it almost becomes a tableau of the human experience itself — of grief and ruin and longing and chaos and uncertainty. And in many ways, that’s what marriage is. At the time of our wedding, we had already been through so much. I was diagnosed before we were even engaged — we had been dating less than a year. We decided to marry three years after my LAM diagnosis, so the gravity of what we were agreeing to had already been laid out for us. What I most wanted the essay to impart is that tenderness survives — not easily and not without cost — but if you’re willing to be intentional and to keep choosing it, something really beautiful can still emerge from all of that chaos.

Sacopulos: There was a time, and you share this in the essay, where you and Vincent made embryos together before you were married. Can you tell us about that decision?

Hoy: I’m happy to share that, and we were intentional about including it in the essay because of how it intersects with a systems argument I think it’s important to make about rare diseases like LAM and women’s reproductive health. What I’ve come to understand is that when you’re handed a very rare diagnosis, you are largely left to figure out the rest — and what that costs in terms of time and outcomes and the particular exhaustion of carrying all of that uncertainty alone has become central to my advocacy work. The decision to pursue IVF and create embryos together, again before we were married, was one of the most vulnerable moments of my life. What I now realize is that I was essentially asking Vincent: I may die from this. Do you still want to build something with me? That is an enormous thing to put on someone, especially when you’re not yet married or engaged. And Vincent did not hesitate. He said yes, and we moved forward. His willingness to plant his flag and say, ‘I am ready and willing to stand here with you and try to preserve the possibility of a future together’ — that is why we have the life that we do. We froze the embryos and then returned to our training. And then COVID arrived, and that changed everything again. It seems like every four to five years we are met with a crisis, on a micro or a macro level, where we really have to reevaluate and reprioritize everything very intentionally as a couple.

Sacopulos: You and your husband are both physicians, with access to systems and expertise that many patients simply do not have. You’re an advocate for those people. Can you tell me about that?

Hoy: There was always an awareness of how much infrastructure and resources Vincent and I had at our fingertips that the vast majority of women with rare disease and with LAM more specifically do not. We had access to colleagues and to experts we could reach out to directly. We had the ability not just to read the available literature on LAM and reproductive decisions, but to make sense of it and use it as data to inform our own choices. And we had the confidence to push forward, to ask difficult questions in the clinical encounter, or to request a second or third or fourth opinion as we felt appropriate — which I don’t think many would feel confident enough to do. I co-authored a paper looking at educational attainment among women with LAM and its relationship to treatment and outcomes. What we found is that women with a graduate degree or higher are more than twice as likely to be on Sirolimus — the only FDA-approved treatment for LAM. But if you compare that to oxygen utilization, which is a more clinically obvious intervention, there is no relationship to educational attainment whatsoever. Our interpretation is that this illuminates the reality that Sirolimus requires navigation. It requires social capital — the ability to advocate when the system is not designed to make these conversations easy. What fills the gaps at a systems level is largely luck. It’s geography. It’s personal and professional networks. It’s persistence and privilege. And I benefited from all of those — but that’s not necessarily right, and it’s not the best way to build a system for those who largely live on the periphery already. I’m trying to use the personal as a data point and as a story to highlight that this is actually a structural issue.

Sacopulos: You co-founded the LAM Foundation’s Clinical Advisory Board. Can you tell me about it?

Hoy: The advisory board is a phenomenal resource — not only for LAM patients and their families, but also for clinicians who work in pulmonology and treat women with LAM and other interstitial lung diseases. We are fortunate to have the breadth and depth of expertise across institutions with an international footprint that really taps into an extraordinary core of knowledge for such a rare disease. Being able to pool all of that expertise into an accessible network is so critical — not just for patients and families, but for clinicians to learn from one another. I helped to organize it, though I am certainly not a clinician who treats LAM. I simply saw the opportunity to bring some of these experts together. They are volunteers, by the way — this is out of generosity of spirit and deep care for LAM patients that they donate their time and participate.

Sacopulos: It occurs to me that you may be using ‘rare disease’ as a term of art. Is there a specific clinical definition?

Hoy: Technically speaking, a rare disease is generally defined as a condition affecting fewer than 200,000 individuals. For LAM in particular, it was once thought to affect maybe 7 to 8 women per million, but we now know it’s much closer to 20 to 24 per million. And the interesting reality is that a disease may appear rare simply by virtue of being vastly underdiagnosed. That speaks to the very urgent need for awareness and visibility of conditions like LAM. If a woman presents with difficulty breathing, shortness of breath, and a potentially collapsed lung — or goes to the emergency room with severe abdominal pain and a growth found on her kidney, which is another finding of LAM — physicians need to include LAM in their differential, particularly if she is of childbearing age. That has become a critical core of the work at the LAM Foundation: ensuring that as many clinicians as possible, and especially those who interface with women of this demographic, are aware that this disease exists and know what some of the more common presentations may be.

Sacopulos: Do you ever feel that your advocacy and focus upon LAM — a condition that you yourself have — takes an emotional toll?

Hoy: It’s an interesting question. As physicians, we are trained — whether implicitly or otherwise — to be expert compartmentalizers. It helps to maintain some emotional distance from the acuity of what may be unfolding in front of you in the operating room, the intensive care unit, or the office. But at the same time, living with LAM has made me a more honest physician. I should say, for full transparency, that I am currently not actively treating patients. But certainly when I was clinically active, I had more patience for sitting in that uncertainty with the people I was tasked to care for. I recognized the singular importance of accompanying someone with presence when they are extremely vulnerable. As an anesthesiologist, we find ourselves in those moments all the time — typically right before a patient falls asleep, before a surgery, is when they are most vulnerable, most afraid. And I found that regardless of age, whether it’s a man or a woman or a child, what they most want in that moment is to know they’re not alone and to have someone hold their hand. What I try to do now — in my work for visibility and advocacy for LAM and rare diseases that affect women — is to really be present and to channel any of that grief and suffering that I personally experienced into something that can be productive and make a difference for others.

Sacopulos: I want to end where your essay ends — not with a systems view, but with the person inside it. You write that Rodin eventually removed The Kiss from the Gates of Hell because it was thought to be too tender, too alive — it disrupted the landscape of suffering around it. And you ask: what are we allowed to hold on to in the midst of pain? What tenderness survives? Can you elaborate on that?

Hoy: I feel like it goes back to something I said earlier: tenderness survives when it’s chosen with intention and repeatedly — even when it feels contradictory to what’s happening in the moment, or when it feels out of place. Maybe especially when it feels out of place is when we should reach for it and choose it. The decision to remove The Kiss from the Gates of Hell makes a lot of sense at first blush. If you’ve seen The Kiss, it is just so beautiful — luminous, even — and it doesn’t seem to fit in that landscape of suffering. But I think if we apply a similar lens to medicine, if we remove tenderness because it feels disruptive or takes too much time or feels out of place, that may cost something profound — either in that moment or further down the line, both as physicians and as human beings. You don’t have to remove the tenderness. And you don’t have to feel like you’re going to conquer the pain and the suffering in order to survive it. It almost goes back to what the Gates of Hell represented for us on our wedding day. You can still choose to build a life beside all of that. Vincent chose to do that with me. He stayed — with intention and with a very real awareness of what was unfolding and what could happen in the future. It’s a choice to stay present, even if it’s hard, even if you know it could bring more suffering. And to keep reaching for tenderness anyway, even when logic would argue against it. That is very difficult. It is deliberate. But it is also extremely beautiful, and very important.

Listen to this episode of SoundPractice.