Women and Rare Disease

Delayed Diagnosis and Lack of Knowledge

Nearly 1 in 10 persons in the U.S. lives with a rare disease, but studies have shown that only 36% of patients with a rare disease had been diagnosed within the first year in 28%, it took seven or more years for the diagnosis to be made. And 38% of patients said that they had been misdiagnosed at some point. Half of the patients and caregivers attributed delays in diagnosis to a lack of disease awareness (National Organization of Rare Diseases, 2020). Another study showed that 94.6% of physicians felt that their knowledge on rare diseases was insufficient or very poor and less than 5% felt prepared to care for patients with rare diseases (Orphanet Journal of Rare Diseases, 2021). In a study on hereditary angioedema (HAE), it was found that one important cause of diagnostic delay is the “lack of suspicion of a rare disease by patients and their medical professionals,” suggesting that increased awareness is needed about rare diseases (Plos One, 2022). More work is need to improve education and awareness of rare diseases.

Sex-Based Differences in Rare Disease

Sex differences play a critical role in how rare diseases manifest, progress, and respond to treatment. Biological factors, such as hormonal fluctuations, immune system activity, and genetic factors, contribute to variations in symptoms between men and women. Despite these known differences, many diseases are still primarily studied in men, leading to an incomplete understanding of how they affect women, ultimately impacting diagnosis, treatment, and long-term management.

Bias and Stigma

Women with rare diseases often encounter bias and stigma in medical settings, where their symptoms may be minimized or misattributed to psychological causes. In fact the word “hysteria” comes from the Greek word “hystera” which means “uterus” because ancient healers once believed that a “wandering womb” caused the symptoms associated with hysteria Historically, women have been dismissed as overly emotional or exaggerating their pain, leading to delays in diagnosis and proper treatment. This bias is particularly harmful in the case of rare diseases, where early intervention can significantly impact outcomes. Additionally, women with visible symptoms may face social stigma, feeling isolated due to a lack of understanding from both healthcare providers and society. The perception that rare diseases are “invisible illnesses” further complicates their struggle for validation. The film, Ms. Diagnosed, highlights the potentially devastating impact of delayed diagnoses due to sex and gender bias.

Underrepresentation in Clinical Trials

Women have been historically underrepresented in clinical trials, leading to a significant gap in knowledge about how rare diseases and their treatments affect them. Many clinical studies excluded women due to concerns about hormonal fluctuations affecting results or the potential risks to fetal health if a woman became pregnant during the trial. As a result, medications and therapies are often developed and tested primarily on men, despite evidence that women may metabolize drugs differently, experience different side effects, or require distinct dosing strategies. This lack of inclusion has long-term consequences, as treatments may be less effective or even harmful for women, ultimately limiting their access to safe and appropriate medical care.

Limited Expertise Impacts Access to Care

Because rare diseases are, by definition, uncommon, finding a knowledgeable healthcare provider can be difficult. Many general practitioners have limited experience with these conditions, and specialists may be concentrated in only a few medical centers worldwide. This forces patients to travel long distances, endure long wait times, or rely on fragmented care from multiple providers. Without access to coordinated, multidisciplinary care, women with rare diseases are often left to manage their own healthcare, researching their condition, seeking out clinical trials, and advocating for appropriate treatment. The data on sex differences in rare diseases may not have been studied, making personalized patient management even more challenging.

Relevant Articles:

Gender inequalities and discrimination in rare diseases: a double threat to women’s health and wellbeing (European Public Health Alliance, 2022)
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey (European Journal of Human Genetics, 2024)
Rare Disease and the Women’s Health Gap
Enacted Stigma Experiences and Identity Noticeability of LGBQ+ Women with Rare Diseases (J of Homosexuality, 2022)

Hormonal Influences

Hormones, particularly estrogen and progesterone, can have an impact on the progression and severity of rare diseases. Some conditions can worsen during times of hormonal fluctuation, such as puberty, menstruation, pregnancy, and menopause. During pregnancy, some diseases may worsen due to increased stress on the body, while others may temporarily improve due to immune system suppression. Hormone therapies, including birth control and hormone replacement therapy, may help manage symptoms but can also pose risks or interact with other treatments. And medications that are effective for rare disease management may pose risks to fetal development, forcing women to choose between controlling their symptoms and ensuring a healthy pregnancy. Unfortunately, research on how to best address these situations remains limited, leaving many women with rare diseases navigating treatment options with little guidance from medical professionals. Additionally, high-risk pregnancies require specialized care, which is not always accessible, leading to further complications and increased anxiety for expecting mothers with rare diseases.

Challenges in Access to Reproductive Care

Women with rare diseases often face significant barriers in accessing reproductive care, particularly when they have high-risk pregnancies. Many obstetricians lack experience in managing pregnancies complicated by rare conditions, and maternal-fetal medicine specialists may not always be available, especially in rural or underserved areas. Additionally, insurance limitations and financial concerns can make it difficult for women to receive the advanced care they need. Some women may also encounter bias from healthcare providers, who may discourage pregnancy or provide inadequate support due to misconceptions about their condition. Ensuring that women with rare diseases have access to specialized, compassionate reproductive care is essential for improving maternal and fetal health outcomes.

Contraception, Fertility, and Family Planning

Women with rare diseases often face unique challenges when it comes to contraception, fertility, and family planning. Certain conditions may impair fertility, making it more difficult to conceive, while others may require assisted reproductive technologies that are costly and not always covered by insurance. Contraceptive options can also be limited, as hormonal birth control may interact with medications or exacerbate symptoms. Additionally, women with genetic conditions must consider the potential risks of passing on a disease to their children, making family planning decisions particularly complex. Access to reproductive specialists who understand the intersection of rare diseases and fertility remains a challenge, leaving many women without the guidance they need to make informed decisions.

Relevant Articles:

Pregnancy, Childbirth, Puerperium, Breastfeeding, and Sexuality in the World of Rare Diseases (Healthcare, 2023)
Women with Rare Disease: The Reproductive Years (Global Genes, 2020)

There is a huge unmet need in the field of rare diseases. The lack of knowledge, research, funding, and support for these conditions often lead to misdiagnosis, disparities in care, and isolation for so many patients and their families. AMWA hopes to bridge this gap by harnessing the power of film and storytelling to bring these patient stories to light and educate both patients and practitioners.

Film plays an important role in storytelling. Harnessing the power of film may be more effective than a host of didactic exercises because it allows the voice of the patient to shine through in a way that may be far more memorable than facts, figures, and data. The film Rare is an example.

AMWA hopes to curate a gallery of films on rare diseases and promote screenings of these films to increase knowledge and understanding. This work is part of our commitment to the medical humanities and our belief in the impact of the humanities in education, advocacy, and improving patient care.

Voices of Patients with Rare Diseases (Medscape)
Pioneering Paths: Women Leadership in Rare Disease (PM Live)
Healthy Women – Rare Disease 101 
Women in Rare (Rare Revolution Magazine, 2024)
Women’s Network for Rare Diseases (2025)
Inequities in the Rare Disease Community: The Voices of Diverse Patients and Caregivers

There are many national organizations which support rare disease research, advocacy, patients, and caregivers. Here are some below:

National Organization for Rare Disorders
Global Genes
Everyday Foundation for Rare Diseases
Rare Diseases International
Rare Disease Diversity Coalition

Thyroid Eye Disease Fact Sheet

May 2024 – AMWA attends the World Health Assembly 77 in Geneva and a side event hosted by Rare Disease International, Why Invest in Rare Diseases? Ensuring Universal Health Coverage for People Living with a Rare Disease. Speakers at that event included

• Antoine Saint-Denis, Director for European and International Affairs, French Ministry for Labour, Health and Solidarities
• Datuk Dr Muhammad Radzi Abu Hassan, Director General of Health, Malaysia
• Alexandra Heumber Perry, CEO, Rare Diseases International
• Dr. Ruediger Krech, World Health Organization (WHO)
• Antoine Gliksohn, Global Albinism Alliance
• Dr Androulla Eleftheriou, Thalassaemia International Federation
• Anne-Sophie Chalandon, IFPMA Rare Diseases Working Group
• Durhane Wong-Rieger, CORD, Chair of Rare Diseases International Council
• Dr Roberto Giugliani, Casa Hunter, Brazil
• Nadiah Hanim Abdul Latif, Malaysian Rare Disorders Society
• Trudy Nyakambangwe, Child and Youth Care Zimbabwe
• Yann Le Cam, EURORDIS – Rare Diseases Europe
• Juan Carrión, ALIBER and FEDER

May 2024 – AMWA Participates in The Healthcare Experience of Women in Rare Disease LEAP Roundtable Discussion organized by Alexion, AstraZeneca Rare Disease with the following speakers: Christina Hochul (Head of Strategic Alliance Development, U.S. Government Affairs and Policy, Alexion, AstraZeneca Rare Disease), Dr. Rohita Sharma (Senior Director, Global Patient Insights & Solutions – Medical Affairs, Alexion, AstraZeneca Rare Disease), Dr. Eliza Chin (Executive Director, American Medical Women’s Association), and Heidi Ross (Vice-President of Policy and Regulatory Affairs, National Organization for Rare Disorders).

March 2024 – AMWA participates in first White House Rare Disease Forum

December 2023 – AMWA Executive Director Dr. Eliza Chin participated in the panel, Delivering for Patients: Regulatory Reform for Rare Disease Therapies, with co-panelists, Dr. Hilary Marston (Chief Medical Officer, FDA), Dr. Lee Fleisher (Senior Advisor, FasterCures), and Heidi Ross (Vice-President of Policy and Regulatory Affairs, National Organization for Rare Disorders) in the half day health policy forum, Rare Conversations, hosted by Alexion, AstraZeneca Rare Disease. This event brought together national health care experts, patient advocates, and thought leaders for an inspiring discussion on rare diseases. The report from the forum, A Vision for Rare Disease Policy, summarizes the highights from the conference.

May 2023 – AMWA Participates in the 40th Anniversary of the National Organization of Rare Diseases (NORD) and the 40th Anniversary of the Orphan Drug Act