“We're the experts in our own condition” - patients with genetic bleeding disorders share lived experience at the RSM

‘Medicine and Me: Living our best life - examining innovations to deliver optimal care for people with genetic bleeding disorders’, run in collaboration with the Haemophilia Society, took place on Thursday 27 February at the RSM

The UK’s long-running Infected Blood Inquiry increased public awareness of genetic bleeding disorders, such as haemophilia and von Willebrand disorder (VWD) dramatically. In recent years there has also been a surge in research for new treatments into genetic bleeding disorders, that could dramatically improve patient experiences. 

Today, with gene therapy available on the NHS and safe, effective treatment accessible to most people with a bleeding disorder in the UK, the poor quality of life and low life expectancy once experienced by those affected are a thing of the past, and new technologies underpinned by increasingly sophisticated research and data hold promise for further life-changing developments ahead. 

Our recent Medicine & Me event with the Haemophilia Society shone a light on the real-life experiences of those living with bleeding disorders and explored some of the innovative treatments set to improve outcomes for those affected. It also highlighted that while there has been significant progress in treatment for haemophilia, other rare bleeding disorders have been left behind.

"The subject matter is incredibly important, because, as you’ll appreciate, for many of us in the bleeding disorders community, we’ve spent rather a long time... looking back.” Clive Smith, President of The Haemophilia Society, who himself lives with severe haemophilia A, opened the event by sharing his own personal hopes for a brighter future for those affected by genetic bleeding conditions:  “When the public inquiry into the infected blood scandal came to an end, I said to many people that one of my great hopes for the future was that we can start to look forward."

Several speakers affected by genetic bleeding disorders went on to share their own experience and future hopes with an audience of clinicians at the RSM.

The first speaker, who lives with severe factor V deficiency, described feeling "very forgotten" due to a lack of joined up care, with her GP practice and haemophilia centre being in different NHS trusts. She felt that a lack of knowledge about rare blood disorders, even within the Haemophilia centre, results in inconsistent treatment which varies widely.

This speaker’s experience is not unique, with the next speaker, who lives with "haemophilia A, a rare bleeding disorder, but arguably not quite as rare as [severe factor V deficiency]," often finding a lack of education amongst those delivering his care.

Common areas of misunderstanding within healthcare experienced by patients were a lack of knowledge about the conditions in general - with one speaker who lives with von Willebrand disease (VWD) citing the ‘blank faces’ she often comes up against in the emergency room - a lack of understanding that bleeding disorders are lifelong, and not knowing what is ‘normal’ for someone living with a bleeding disorder.

Agreeing with this experience, Clive Smith commented: "There's a feeling at times… that we as patients aren't always treated as the experts we are.” And yet as one of the other speakers observed, “It's us who are the experts, and it's us who have to educate the clinicians and tell them what the treatment should be, which, as a patient, doesn't really make you feel very safe."

How can clinicians improve treatment for those living with a blood disorder

Dr Susie Shapiro, Associate Professor of Haematology at Oxford University Hospitals NHS Foundation Trust & Oxford University, offered her thoughts on how we can bridge the knowledge gaps in clinicians faced with treating rare bleeding disorders. She explained: "It's not that we're not teaching them as medical students, it's that, within their massive syllabus, this is a really small part of it." Adding, "what I stress when I give them a talk about bleeding disorders is that the most important thing is to realise what they don't know and to call the Haemophilia centre."

Clive Smith also suggested the idea of a central repository of information for A&E doctors, adding, "instead of [relying on] Google, we can say, 'Here is a website from the UKHCDO … a trusted source of information.'" He also noted that there are approximately 6,000 or 7,000 rare diseases, and that, "As an A&E doctor, you might never meet someone with factor V deficiency in your practicing career. It’s not just about education, but about communication – that if I don't know something, where do I go for that knowledge?"

In addition to improvements in education and communication, several promising new treatments are set to transform the management of bleeding disorders. Dr Nicola Curry, Consultant in Haemostasis at the NHS Oxford Haemophilia and Thrombosis Centre, discussed new treatments for haemophilia, VWD, and lesser-known genetic bleeding disorders.

She highlighted how, for haemophilia, there are now many more options to personalise patient care, moving beyond just factor concentrate treatments. Before delving into these new treatments, Dr Curry emphasised the importance of clinicians having a thorough understanding of each patient’s activity levels. Whether patients are relatively inactive or involved in contact sports plays a significant role in determining which treatment is most appropriate for them.

For haemophilia A, a soon-to-be-available treatment is Efanesoctocag alfa, which stays in the bloodstream longer than the standard Factor VIII treatment. Recent studies suggest that this could reduce the frequency of patient injections. Dr Curry also outlined non-factor therapy treatments for both haemophilia A and B, including Emicizumab, antithrombin inhibitors, and tissue factor pathway inhibitors.

She then discussed future approaches for treating VWD, the most common inherited bleeding disorders. These therapies include compensating for FVIII deficiency, increasing endogenous VWF levels, and preventing excessive VWF degradation.

Dr Curry concluded by highlighting the ongoing work of HEMAB, a company developing a treatment for Glanzmann thrombasthenia—an important development, as there is currently no available treatment for patients with this condition.

This event was part of our Medicine & Me series, each of which partners with a different medical research charity to provide a platform for patients to share their lived experience with clinicians. Catch up with this event and the rest of our Medicine & Me series on our YouTube channel.

For more details on bleeding disorders or would like support visit the Haemophilia Society website.