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Home » Rare diseases » Driving real progress in rare disease

Dr Karen Pinachyan

Head of Medical Affairs Europe, CSL Behring

Understanding rare diseases

Each person diagnosed with a rare disease has a unique experience and story to tell. However, with over 7,000 rare diseases currently identified, these patients collectively form a significant group that often has unmet needs.1

Recognising the experiences of these patients and those who care for them is essential in order to develop effective treatment and management options.

First, find the patients

Although it is estimated that over 30 million people in Europe live with a rare disease, only 6% of these diseases currently have a treatment.2 Identifying and diagnosing patients is a critical challenge for healthcare systems. 

The reality is that millions of people across Europe still have unmet medical needs.

Stormy, who has haemophilia. Photographed by Rankin.

Putting aside preconceptions

There are rare diseases which are more prevalent in one gender over another. However, when it comes to rare bleeding disorders, there is a common misconception that they only affect men. This means that many women with diseases such as haemophilia or von Willebrand disease remain undiagnosed while suffering from debilitating symptoms including pain, increased risk of heavy menstrual bleeding and higher risk of postpartum haemorrhage.3 Furthermore, the treatment needed by women with bleeding disorders as they go through life events such as puberty, pregnancy and menopause is highly personalised, depending on family history, severity and so on.3

30 million reasons to drive progress

Improvements in access to treatments for rare diseases in recent decades gives us cause to celebrate. However, the reality is that millions of people across Europe still have unmet medical needs. The EURORDIS Rare 2030 survey on the future of rare disease, highlighted that access to treatments that are not yet available, as well as better coordination of healthcare are top priorities for patients.4 

To support all people with bleeding disorders and other rare diseases, we need to innovate at pace, improve diagnostic and treatment facilities and ensure that new therapies get into the hands of patients who need them. Patients, health providers, researchers, industry and governments must all work together to drive multi-stakeholder dialogue and bring about positive policy change. This can only be done when we make patients our priority and put their stories at the centre. 

This article has been sponsored and approved by CSL Behring GBR-CRP-0356 / September 2022].

[1] Rare Disease Day. Frequently asked questions. Available at: Last accessed September 2022. 
[2] Parliamentary question. EU action plan on rare diseases. Available at: document/O-9-2021-000069_EN.html. Last accessed September 2022. 
[3] European Haemophilia Consortium. Women with Bleeding Disorders. Available at: Last accessed September 2022. 
[4] EURORDIS. Rare disease patients’ opinion on the future of rare diseases. Available at: Last accessed September 2022. 

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