We are pleased to release, Dismissed, Unheard, Unseen: Mending the Cracks in Care for Females with Fabry, a new international white paper released at WORLDSymposium 2026 co-created by the Fabry International Network and Amicus Therapeutics alongside patient advocacy leaders, clinicians, and the global Fabry community.

Females with Fabry disease have long been misunderstood. Historically described as “carriers,” many women and girls have had their symptoms overlooked, delayed, or dismissed – often for years. This white paper challenges that narrative and makes clear that females with Fabry experience real, complex, and sometimes severe disease that requires timely, tailored, and equitable care.

The report examines critical gaps across the female Fabry journey, including:

  • Delayed and missed diagnosis, particularly during puberty and menopause
  • Unequal caregiving expectations, where women manage both their own illness and the care of affected family members
  • Inadequate newborn screening, which fails to identify most affected females
  • Limited discussion of reproductive health, fertility, pregnancy, and menopause
  • The invisible mental health burden, including anxiety, depression, guilt, and stigma

Importantly, the white paper does not stop at identifying problems. It presents a clear roadmap for action, calling for:

  • Recognition that females with Fabry are patients, not carriers, and can impact females differently than it impacts males.
  • Gender-responsive diagnostic pathways and clinical guidelines
  • Research designed with women in mind, across all life stages
  • Integrated mental health and psychosocial support
  • Stronger collaboration between healthcare providers, researchers, and patient organisations

At its core, this report is a call to listen to women’s lived experiences and to redesign Fabry care so that it truly reflects their needs.

Download the white paper

We encourage patients, families, clinicians, and advocates to read and share this report and to use it as a tool to drive awareness, understanding, and change.

Together, we can help ensure that no woman with Fabry is ever dismissed, unheard, or unseen again.