EHC shines a light on extremely rare bleeding disorders to mark Rare Disease Day 2025

The EHC European Rare & Inhibitor Network (ERIN) invites you to join us in marking Rare Disease Day, a moment to raise awareness for the community of patients with various extremely rare bleeding disorders, many of whom still struggle to receive a proper diagnosis or the treatment they need. 

There are over 80 known extremely rare bleeding disorders, each with varying degrees of severity and treatment challenges. Many of these disorders are so rare that fewer than 100 cases may be identified globally. This rarity, combined with the complex and often misunderstood nature of these conditions, makes it particularly difficult for patients to receive timely diagnosis and effective treatment.

Awareness, research, and the development of targeted therapies are critical for improving outcomes for individuals with these extremely rare disorders. Let’s ensure no one is left behind. We call on the European Commission to create a comprehensive European Union Plan on Rare Diseases.

We kindly invite you to learn more about these conditions, the ongoing challenges, and the urgent need for improved diagnosis and treatment options. Together, we can help make a difference in the lives of those affected by these extremely rare disorders. Please take the time today to educate yourself and spread awareness.

Women with extremely rare bleeding disorders often face a double challenge – misdiagnosis and invisibility. Many are told that their symptoms are “normal”, delaying proper care and support. Today, on Rare Disease Day, we stand with this patient population and their caregivers, raising their voices to highlight their struggles and the urgent need for accurate diagnosis, tailored treatments, and greater awareness. For this purpose, we asked some ERIN members to tell us more about their experiences as women, patients with extremely rare bleeding disorders and caregivers.

What does it mean to be an extremely rare patient and a woman?

“The lack of knowledge, the lack of treatment options and being a woman give challenges as a patient with an extremely rare bleeding disorder. Not only for me, as a patient, but also for specialists, it can be hard. Managing my period, in particular, feels like an ongoing struggle due to the lack of data and doctors’ limited experience with cases like mine. Each attempt to find a solution feels like a process of experimenting to discover what works.“

What does it mean to be a mother of a child with an extremely rare disease?

“It’s a constant battle of emotions including guilt, fear and isolation. But it’s also the biggest privilege to be able to fight for the most fierce, strong, determined little boy I have ever met! I am incredibly proud of the independent, articulate, confident 4-year-old he is.“

What were you struggling with the most as a woman with no proper diagnosis?

“I struggle with explaining my bleeding symptoms to health care professionals outside the Haemophilia Treatment Centres. I am afraid they do not understand the severity of my condition and that I won’t receive the treatment I need.”