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What happens when a woman is diagnosed with a rare, estrogen-sensitive lung disease at 28, in her first week of residency, with no roadmap for whether she can safely have children? Anesthesiologist Lyndsay Hoy shares her experience navigating family planning after being diagnosed with lymphangioleiomyomatosis (LAM), a rare disease that predominantly affects women of childbearing age. Her episode is based on her KevinMD article, “Reproductive care for rare diseases: the missing playbook,” Even with a medical degree, institutional access, and a physician partner, Hoy found the answers incomplete, and she knows most women facing similar diagnoses have far less support. You will hear why rare disease patients so often become their own case managers, bridging pulmonology, reproductive endocrinology, and genetics with no coordinated system guiding them. Hoy draws on the oncofertility model built around hormone-sensitive breast cancer as proof that structured reproductive counseling can be developed even under uncertainty. She outlines what a minimum viable playbook for rare disease reproductive care should include and the work already underway at the LAM Foundation. If you care about closing the gaps in women’s health care, this conversation will change how you see the problem.
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Transcript
Kevin Pho: Hi, and welcome to the show. Subscribe at KevinMD.com/podcast. Today we welcome Lyndsay Hoy. She’s an anesthesiologist. Today’s KevinMD article is “Reproductive care for rare diseases: the missing playbook.” Lyndsay, welcome to the show.
Lyndsay Hoy: Thank you for inviting me, Kevin.
Kevin Pho: All right, so tell us a little bit about yourself and the reason why you decided to share this article and your story on KevinMD.
Lyndsay Hoy: Well, I’ll start with what the piece is about. It’s about an invisible intersection of rare diseases and women’s reproductive health and the cost of what happens when there’s no coordination or built-in support for women who find themselves at this unique juncture. So more fundamentally than that, I would say the piece is really about absence.
If we zoom out and look at what’s happening in women’s health, new investment is centering menopause, maternal health, conditions that have gone underfunded and understudied for decades. And that’s exciting and that’s right that it’s happening. But what will inevitably get prioritized in this next iteration of women’s health infrastructure will be what is easily scalable. Large cohorts, routine playbooks and pathways, clear guidance. By definition, that will almost inevitably leave out rare diseases, particularly those that hinge on hormones and reproduction, unless there are those who champion their intentional inclusion.
Kevin, that’s really where I see my doorway into this conversation. As you mentioned, I am an anesthesiologist by training, though I am no longer clinical. I also serve as vice chair on the board of directors at the LAM Foundation, which is a rare disease nonprofit. And I myself am an individual living with a rare disease. And so what I am trying to do is utilize that confluence of unique perspectives to elevate the visibility of what I see as a blind spot currently that I hope will not get replicated at scale.
By way of brief bio, I can share a bit of personal story just to ground the conversation. I was 28 years old and in my very first week of anesthesiology training at the hospital at the University of Pennsylvania when I was essentially learning two things at once. I was being trained to keep others breathing during surgery, while also learning what it felt like to lose my own air. Because my chest was filling with liters of lymphatic fluid, and when we pursued a workup, the imaging found lungs that looked like lace, and that was because innumerable cystic formations had begun to take hold of my lung parenchyma. Taken together, what we realized were chylous effusions in addition to the cystic formations. That’s pathognomonic for LAM, or lymphangioleiomyomatosis, a rare estrogen-sensitive lung disease that predominantly affects women of childbearing age.
Again, at the time I was 28 and on the threshold of a new career, on a personal level, a new relationship. And the questions that were front of mind for me after the initial shock of this life-changing diagnosis were centered on family planning. Questions like, can I get pregnant? Will the medication for LAM harm a fetus? And will pregnancy accelerate my lung destruction? Will I even be around long enough for any of this to matter?
And Kevin, the core truth and the reality that I quickly learned is that a rare diagnosis creates inevitable uncertainty, but the more destabilizing part is what comes after: the lack of a playbook, the lack of a pathway, and the absence of direction.
Kevin Pho: So you told your story, you were 28 years old, you were diagnosed with this rare disease. As you said, starting anesthesiology residency and just managing innumerable things at once. Give us a sense of what kind of resources did you turn to? Was there literally nothing? Where did you turn to for potential answers?
Lyndsay Hoy: Well, I would say that I had many advantages at that time that most women with rare diseases and women with LAM do not. I was deeply in the system at the time as a physician with a physician partner, and significant institutional access. More specifically, we could access data. We could read and interpret and have a deeper understanding of literature. We could call and phone a friend for second, third, and fourth opinions, our colleagues. Even with all of that, Kevin, the answers still felt incomplete.
We pursued one cycle of IVF because that’s all we thought my body could handle at the time. We now have a child via surrogacy. And I say that with both gratitude and discomfort because I know that without a playbook, without a pathway, again, most women with LAM and other rare conditions are navigating the exact same kinds of questions and life-defining decisions with less support and potentially more risk.
Kevin Pho: Now, what are some of the reasons why there is such a lack of a playbook, as you put it? Is it because this scenario is so uncommon and there’s just not a lot of funding to answer these relatively rare questions? What’s the reason why there is a lack of the playbook?
Lyndsay Hoy: I’ll zoom out again to begin to answer that question. Rare diseases are not rare in aggregate. More than one in 10 Americans lives with one, which is, I believe, on par with the prevalence of diabetes in the United States. In LAM specifically, the average time from symptom onset, which can be ambiguous and easily misconstrued with potentially other conditions, the average time from symptom onset to accurate diagnosis can be up to 10 years. And even after diagnosis, reproductive care and women’s health have not been included in part of that standard framework of care. So it is largely improvised case by case visit. And this isn’t the fault of any individual clinician. This is a systems gap.
So when I share pieces of my lived experience and my story, it’s really to ground that in a systems argument. Nobody owns coordination across specialties. So the patient becomes, in essence, the case manager and expert by default, bridging, in the case of LAM, pulmonology and reproductive medicine, sometimes genetics, all the while managing a rare diagnosis that most clinicians have never seen or heard of.
Kevin, I believe that women living with LAM represent some of the most underserved patients existing at multiple so-called invisible intersections: rare disease and reproductive health and gender bias in medicine.
Kevin Pho: So you mentioned that women with LAM, patients with LAM, they generally have a team of specialists. You mentioned pulmonology, genetics, and potentially reproductive health specialists. In general, do they coordinate at all? What’s the normal level of coordination between these specialists, especially as it relates to the questions that you had regarding reproductive health?
Lyndsay Hoy: Well, let me give you two foreseeable scenarios in LAM, and these are not hypothetical. I know patients and I have friends who this has happened to, to better illustrate the points here. First, consider a woman with a known history of LAM who receives an unexpected positive pregnancy test. Suddenly she is navigating multiple specialists, hearing and reconciling potentially conflicting risk frameworks, and making time-sensitive life-defining decisions while coordinating her own care.
The second, and perhaps slightly more common scenario, is a new diagnosis of LAM in a partum pregnancy. Pregnancy is a high-estrogen state, so LAM symptoms can newly emerge or rapidly worsen, making clinical management decisions urgent within days, sometimes hours.
Without a playbook or a pathway to guide these women, what ends up happening is that systems gap is filled by what the patient brings to the table. And by that I mean geography, personal connections, and proximity to tertiary and quaternary centers of care with the expertise, resources, and capacity to manage her condition appropriately, and persistence, the bandwidth on the part of the patient to take on this burden and navigate her own care.
I think that really gets to the root of what I am so motivated to try and change, which is the embedded inequity in these experiences.
Kevin Pho: So to bring it to a little bit more of a granular level, for women either newly diagnosed with LAM or previously having LAM and having a positive pregnancy test, tell us the type of questions that they need to answer going forward, that you say they’re trying to answer themselves. You talked a little bit about your own journey, so tell us about the questions that you had to face and navigate through your reproductive journey.
Lyndsay Hoy: It’s a great question, and it goes back to some of what I shared a few moments ago, which is all of the deeply felt uncertainty that you’re met with when you start to think about family planning and what those potentialities could look like for you. And it’s different for every woman with LAM and for other rare conditions.
Let me just say first that LAM is one of the few rare diseases, of which there are several thousand, over 7,000 perhaps, in the five to 7 percent of all rare diseases that have an effective FDA-approved treatment. That treatment is called sirolimus, and it has changed the landscape of what it means to be diagnosed with LAM. What used to be a prognosis of seven to 10 years before the need for bilateral lung transplant has now transformed to an average of 20 years from the time of diagnosis to the time of end-stage respiratory failure and potential need for lung transplant.
And so what that has done, Kevin, it’s radically changed what’s possible for women living with LAM. Instead of asking, how long do I have left to live? The questions now center on quality of life and how do we continue to build a meaningful life after diagnosis. And yet even with that incredible gift of more time and more life and more hope, there are incredibly complex questions about sirolimus itself and its impact on not only fertility, but potential impact on the fetus and the health of the child moving forward. And again, as I had mentioned, what happens to lung function, either on or off, sirolimus during gestation?
I think that what we really need, and some of this is already in progress with various coalitions and experts and patient leaders, is we do need a playbook that provides structured care and coordinated counseling for these women so that it does not hinge on case by case and improvisation by, for every patient. I would love to see it come in three distinct components.
We need to have clearly defined triggers, meaning a new rare diagnosis in a woman of reproductive age should be a trigger, pregnancy or pregnancy intent, or approaching major hormonal transitions such as initiating IVF treatment or approaching perimenopause.
And then to get back to your question about what specialties need to be involved, we need to have a clearly defined multidisciplinary lane inclusive of the rare disease specialist. So in the case of LAM, that would be the interstitial pulmonologist, in addition to maternal-fetal medicine, reproductive endocrinology, primary care, genetics, all connected and linked by design, not luck.
And finally, we need to develop and disseminate shared tools, a decision guide and shared counseling language, so that patients such as myself are not met with, well, we don’t know, or there isn’t enough evidence. That can’t be the end of the conversation.
And the good news is that there are models out there to look at. They built under uncertainty. We can do that too. Specifically, oncofertility is proof of concept. ER-positive breast cancer is similarly hormone-sensitive, and someone decided to build real infrastructure around reproductive milestones so that for those patients, the counseling is standardized and the specialties are coordinated and the guidelines exist. That is what I want LAM and other rare diseases to aspire to so that we can help these women.
Kevin Pho: So tell us about some of the work that you’re doing to bring a playbook like that into fruition. How far are we from getting to your idealized scenario?
Lyndsay Hoy: Thank you for that question. The LAM Foundation is involved in doing exactly that. We are partnering with other rare disease organizations, physicians, researchers, and patient leaders to create that minimum viable playbook and pathway inclusive of a decision guide and shared counseling language across life stages. This is not specific to premenopausal women. What I would really like to see come into existence and be embedded in the system is support across the arc of reproductive life for a woman.
And we’re already doing some of that. And so I am very heartened and excited to see those partnerships and coalitions come into existence. And I hope that in a few years, women who are met with this life-changing diagnosis will no longer feel adrift in uncertainty and mired down by having to carry the additional burden of coordinating their own care and navigating these irreversible life decisions more or less alone.
Kevin Pho: Now, as these guidelines and this playbook are developing, women who find themselves in situations where you were at age 28, what kind of resources can they turn to today?
Lyndsay Hoy: The LAM Foundation is a terrific resource. There are many support networks embedded within our organization to provide counseling. And even if we don’t have those decision guides and formal recommendations or guidelines in existence yet, they are in development and they are coming.
And to connect with other women who have that shared lived experience is, I think, so critical to knowing that there are others who have been in a similar situation and that these women are not alone. When you have a rare disease, it’s an incredibly lonely place to be. And so the LAM Foundation provides really that foundation of support and connections with physicians and our clinical network to help guide these patients through some of these decisions.
Kevin Pho: We’re talking to Lyndsay Hoy, anesthesiologist. Today’s KevinMD article is “Reproductive care for rare diseases: the missing playbook.” Lyndsay, let’s end with some take-home messages that you want to leave with the KevinMD audience.
Lyndsay Hoy: Sure. I would say two things. First is that women should not need luck, privilege, or a medical degree to navigate a rare diagnosis that will shape the rest of their lives.
And the other thought I would share is, let fear come with you. Whether you are a practicing clinician or you’ve stepped away from direct patient care as I have, let fear come with you as a motivator, because you can be uncertain, still courageous, and in my case, you can be ill and strive to still be profoundly impactful.
Kevin Pho: Lyndsay, thank you so much for sharing your story, time, and insight. Thanks again for coming on the show.
Lyndsay Hoy: Thanks, Kevin.
