Women’s health cannot leave rare diseases behind

After my talk at a conference that brought physicians and patients together, a woman who shared my diagnosis took my hands and looked me in the eyes. “Thank you,” she said, her voice breaking. Tears filled both of our eyes. As both a physician-scientist and a lymphangioleiomyomatosis patient, I felt gratitude and heartbreak at once — and the rare tenderness of being understood without explanation. I also felt the gap clearly: women’s health is gaining attention, yet many women living with rare diseases remain unseen.

Julie Smith

Lyndsay Hoy, a lymphangioleiomyomatosis, or LAM, patient and physician, presents the LAM Foundation's five-year strategic plan at the LAM Foundation's 30th Anniversary Conference in 2025.

Lymphangioleiomyomatosis, or LAM, is a rare, progressive, estrogen-dependent lung disease that overwhelmingly affects women. Yet, it is largely absent in women’s health narratives, research agendas or funding priorities.

We are working to close that gap from two sides: One of us lives with LAM, diagnosed while practicing anesthesiology and now helping lead the LAM Foundation’s mission strategy. The other comes to LAM as a basic scientist, helping guide research toward a cure. We met in late-night emails, marked-up drafts, grant proposals dissected line by line and hard conversations about what to prioritize when resources are limited.

Journalist and women’s health advocate Maria Shriver has argued the U.S. is finally waking up to women’s health after decades of underinvestment. But, this moment is colliding with a period of tightening federal support for science. For women with rare diseases, the bar is higher: funders want measurable plans, and scientists need accessible, usable data and trial-ready milestones.

LAM has already shown what is possible when basic science and clinical translation align with a committed community. It is among the small fraction of rare diseases with an FDA-approved therapy, sirolimus, an mTOR inhibitor originally developed as an immunosuppressant. But, the postapproval era is not a victory lap. There is still no cure, and responses to treatment vary. Some stabilize. Others continue to lose lung function or progress to lung transplantation.

The questions now are harder and more human. What comes next after first-line therapy? Which endpoints detect meaningful change before irreversible lung loss? How do reproductive transitions and social context shape the natural history of disease? We eventually arrived at a shared realization. Women’s rare diseases need patient-driven translational tools that measure outcomes across contraception, pregnancy, menopause and long-term medication exposure, and a research agenda that reflects women’s lives.

Julie Smith

Marina Holz speaks with a lymphangioleiomyomatosis, or LAM, patient following her presentation on the LAM Patient Research Priorities survey, or LAM–PREP, at the LAM Foundation's 30th Anniversary Conference in 2025.

That is where LAM-PREP came in. LAM-PREP, or the LAM Patient Research Priorities survey, asked our community what questions matter most. Patients and physicians told us that the daily burden is not only breathlessness. It is uncertainty, the weight of life-altering decisions made with too little evidence. For scientists, LAM-PREP turns that urgency into a signal. It clarifies which hypotheses are worth testing, which outcomes matter enough to measure, and which projects are most likely to justify the next stage of investment.

LAM-PREP also revealed a truth that rare disease fields cannot avoid, especially now. We cannot pursue everything. We have to earn progress in stages, de-risk the next step, and keep the path to the next trial visible. In practice, this means using infrastructure that already works, partnering for resources we cannot sustain alone, comparing multiple models instead of chasing a single perfect one, and keeping the early-career pipeline viable through mentorship and real on-ramps.

If you are a basic or translational scientist, here is our ask: help us compress time for women with rare diseases. Validate a biomarker. Pressure-test an endpoint. Design an assay that can travel across sites. Share a model. Join a multisite collaboration.

Beyond the urgency, rare disease research offers something rare in science itself: proximity. When you work alongside the community you are trying to help, the questions sharpen and the work stops being theoretical.

Weeks after the conference, we learned the woman who held my hands had been called for a lung transplant and the transplant did not move forward. I replay that exchange often. It is a stark reminder of what invisibility can cost when women’s rare diseases remain a blind spot in women’s health.