In my first week of anesthesiology residency at the Hospital of the University of Pennsylvania, I learned two things at once: how to keep other people breathing and how it feels to lose your own air. My chest filled with liters of lymphatic fluid. A scan showed lungs that looked like lace. The diagnosis was LAM, lymphangioleiomyomatosis, a rare, estrogen-sensitive lung disease that overwhelmingly strikes women in their reproductive years.
At 28, on the threshold of a career and a new relationship, I was confronted with questions nobody could answer cleanly. Can I get pregnant? Should I? Will my medication harm a fetus? Will pregnancy accelerate lung destruction? Will I be here long enough to raise a child? The evidence was thin. The burden of decision-making was enormous.
An FDA-approved treatment has changed what the future can look like for many women with LAM. We now have time to hope, to plan, to build a life. But reproductive care for rare disease is still not included in standard practice.
The absence of a reproductive playbook
The quiet tragedy of a female-predominant rare disease like LAM is not only the disease itself. It is what comes after the diagnosis: the absence of direction. Many common conditions come with a playbook: clear pathways, standard counseling, and teams that know what happens next. With LAM and other rare diseases, patients are often left to assemble that expertise themselves. And because hormones can influence disease progression, critical issues including contraception, pregnancy, and menopause require coordinated care, not guesswork.
This is the contradiction. Women’s health is finally getting long-overdue attention, yet reproductive care for women with rare diseases remains fragmented and ad hoc. New investment is rightly centering menopause and maternal health. But what gets built first is what medicine can standardize quickly: large cohorts, clear guidelines, routine pathways. Rare diseases, especially those that hinge on hormones and reproduction, won’t be included unless we insist on them.
LAM is one example of a broader omission. More than 30 million Americans, about one in 10, live with a rare disease, and many women spend years in a diagnostic odyssey. Even when they finally receive a diagnosis, they often still can’t get coordinated guidance on fertility preservation, pregnancy-safe medications, or how to navigate contraception, family planning, and menopause.
Navigating decisions in the dark
I had an advantage. I was inside the system. I could digest and understand the data, call colleagues, and ask informed questions. I had a physician partner who could carry the weight with me. Despite all of that, the answers were incomplete.
For us, this ended in a decision that was both practical and sobering. I chose to freeze embryos because it felt like the safest way to protect a future I still wanted, even as guidance on IVF, hormones, and LAM was vague at best. We pursued that option because we had knowledge, time, and the ability to navigate a complex system. Today we have a child via surrogacy.
I say that with both gratitude and discomfort. Most women facing a rare diagnosis are left to make similarly life-defining, time-sensitive decisions with less support and potentially more risk. That reveals a systemic gap and it falls hardest on women with rare diseases who lack resources and access to a coordinated medical support network.
International Women’s Day asks us to celebrate women. It should also force a harder question: Which women are still missing from the women’s health story?
A practical fix for health systems
Here is one practical fix. Health systems should publish a clear, multidisciplinary reproductive pathway for women with rare diseases. The rare disease specialist, maternal-fetal medicine, reproductive endocrinology, genetics, and primary care should be connected by design.
Make referral routes explicit so newly diagnosed patients are not guessing where and when to go for expert advice and care. Create rare disease reproductive decision guides for patients and clinicians so “we don’t know” is not the end of the conversation.
Women should not need luck, privilege, or a medical degree to navigate a rare diagnosis that will shape the rest of their lives.
Women’s health is rising. Women with rare diseases should rise with it.
Lyndsay Hoy is an anesthesiologist.
