Speaking out for ultra-rare bleeding disorders

For Rare Disease Day 2026, we’re shining a spotlight on ultra-rare bleeding disorders.

Rare Disease Day, marked on the last day of February, is rooted in advocacy. Its purpose is to raise awareness of lives lived with rare diseases, and to campaign for equity in social opportunities, healthcare, and access to diagnosis and treatment.

This strikes a chord with Haemnet. Our work focuses on the experience of life with a rare bleeding disorder – but, of course, some are rarer than others.

Ultra-rare bleeding disorders include factor deficiencies, Glanzmann thrombasthenia, Bernard-Soulier syndrome and afibrinogenemia, and individually affect as few as 1 in 2 million people. For those living with such rare bleeding disorders, diagnosis is often delayed, symptoms can be debilitating, and disease-specific treatments generally don’t exist.

A life with Factor V deficiency

In the summer of 2025, Dr Kate Khair spoke with Helen Tate, a dance teacher and trustee of The Haemophilia Society. Helen lives with Factor V deficiency, an ultra-rare bleeding disorder affecting around 1 in a million people. 

Helen was lucky to be diagnosed as a baby following an intracranial bleed. As an adult, she lives an active life – but she continues to be impacted by bleeding symptoms, and treatment options for Factor V deficiency are as limited now as when she was a child. She can use tranexamic acid to help manage bleeding at home, but the only other option is a visit to hospital for an infusion of fresh frozen plasma. While vital for treating major bleeding, Helen has found that hospitals can sometimes be reluctant to give this.

Helen describes times when her bleeding has been “kind of out of control”, preventing her from leaving the house. While the bleeds she experiences aren’t necessarily life-threatening, the lack of treatment options and understanding of her condition sometimes leave her feeling “really isolated and not listened to”. 

Advocacy out of necessity

It’s the difficulties in her own lived experience that prompted Helen to speak out and become an advocate for people living with ultra-rare bleeding disorders. She takes a very pragmatic view of her journey into advocacy.

“It’s something that I think I’ve had to become because otherwise progress won’t be made,” says Helen. “There’s not very many of us. If I’m not going to say anything, who is?”

Helen notes the incredible developments that have been made in haemophilia treatments. Haemophilia is rare too – though not as rare as Factor V deficiency and other ultra-rare bleeding disorders. She remains hopeful that elements of this progress in haemophilia treatment may support improvements in treatment for ultra-rare bleeding disorders too.

“Treatments have come so far for haemophilia – there’s now room for us,” she says. “I think now’s our time to speak out about struggles that we’ve had, because it’s so hard when you get to hospital and not even they understand.” 

More care for ultra-rare

Helen believes that improvements in the care of people living with ultra-rare bleeding disorders starts with medical education, from primary care all the way through to specialist treatment centres.

“It starts at the GP level, listening to the concerns of people,” she says. “And then I do think when you go to even a centre, there needs to be more education there about rarer conditions and really listening to the patient.”

When you’re ultra-rare, being listened to and understood is key to care.

Further information

You can listen to Helen’s conversation with Dr Kate Khair in the Haemcast episode ‘Quality of life in the balance: Helen Tate on living with Factor V deficiency’.

About the author

Kathryn Jenner is Communications and Community Manager at Haemnet Ltd.