Rare diseases were not something I studied in any depth in medical school or residency.
It was my aunt, Dr. Vivian Shih, who first raised my awareness of this area of medicine. A nationally renowned researcher studying inborn errors of metabolism, her work reminded me of the biochemical pathways I had studied as an undergraduate. Though I trained at the same medical school where she worked, these conditions were mentioned only in passing in our curriculum, if at all—and more often from a biochemistry perspective, not the constellation of symptoms that marked the clinical presentation.
In fact, during my medical student and residency years, I seldom came across rare diseases, except through readings or conferences. Only once during my neurology rotation did I care for a patient who would later be suspected to have a rare disease: Jakob-Creutzfeldt disease.
I’m not alone.
A 2021 study showed that 94.6 percent of physicians felt that their knowledge of rare diseases was insufficient or very poor, and less than 5 percent felt prepared to care for patients with a rare disease.
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The impact of rare diseases on women’s health would not be an issue that I would consider until my recent work within the American Medical Women’s Association (AMWA). AMWA co-founded the Sex and Gender Health Collaborative as part of our expanded work in women’s health and the realization that the health of women encompasses “all health conditions for which there is evidence that women’s risks, presentations, and/or responses to treatments are different from those of men.” Due to the lack of awareness of sex differences, women may face a delayed or missed diagnosis. And this was for conditions such as heart disease, endometriosis, or inflammatory bowel disease. What about diseases less commonly encountered? How much more would women with rare diseases suffer from delayed, missed, or wrong diagnoses? How often would their unusual symptoms be attributed to hypochondriasis, anxiety, or stress—or be dismissed altogether?
And what about some of the critical life stages of women, like family planning and pregnancy? What challenges do these women face? What kind of care team is necessary to ensure adequate expertise in a field in which there are so few practitioners?
Here is a summary of these and other key issues for women within the context of rare diseases.
- Sex- and gender-based differences in rare disease presentation
- Sex- and gender-based bias and stigma toward women with rare diseases
- Underrepresentation of women in clinical trials
- Hormonal influences can exacerbate symptoms or complicate disease management
- Heredity may be due to X-linked diseases
- Challenges in management during pregnancy
- Challenges in access to abortion care for high-risk pregnancies
- Rare diseases may complicate contraception, fertility, and family planning
- Management of rare diseases may be particularly challenging with limited expertise
- Symptoms in women may be dismissed as psychological, leading to delays in diagnosis and treatment
- Women may be the primary caregivers for a family member with a rare disease—and thus shoulder the burden of care
- Women with rare diseases may face higher health care costs, reduced earning potential, or employment discrimination
- Women can be empowered to be rare disease advocates
Addressing rare diseases in women requires a multidisciplinary approach that integrates medical research, policy change, education, advocacy, and empowerment. By highlighting these issues, the medical community can better support women who are living with or caring for individuals with rare diseases so that together we can drive meaningfully improved care and outcomes.
Eliza Lo Chin, MD, MPH is an internal medicine physician and the executive director of the American Medical Women’s Association.
The American Medical Women’s Association (AMWA) is the oldest multispecialty organization dedicated to advancing women physicians and improving the health of women. For more than a century, AMWA has been the vision and voice of women in medicine, pursuing its mission through leadership, advocacy, education, mentorship, and strategic partnerships.
AMWA has a long publishing history. Its members produced a series of consumer health references in the 1990s, including The Women’s Complete Health Book (Delacorte Press, 1995), the AMWA Guide to Pregnancy and Childbirth (1996), the AMWA Guide to Cardiovascular Health (1997), and The Complete Family Health Book (1999). The association’s flagship scholarly publication, the Journal of the American Medical Women’s Association (JAMWA), ran from 1946 to 2005 and grew out of earlier titles that trace back to the Bulletin of the Medical Women’s National Association, first published in 1922.
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