Focus on Rare: the invisible burden of rare diseases

Emma Sutcliffe from NexGen Healthcare Communications looks at how patient insights can bring the invisible challenges of living with a rare condition into plain view.

Over the past decade there has been considerable investment by pharma into research for rare disease as the patient voice and advocacy movement have done an outstanding job of raising awareness of the needs of the one in 17 who has a rare condition.

At last, it seems the same level of recognition of the unmet medical need is following through from national and international organisations. In January, for example the UK Government published their policy paper outlining a ‘Rare Diseases Framework’ which pledges to:

1. Ensure patients get the right diagnosis faster
2. Increase awareness of rare diseases among healthcare professionals
3. Provide better coordination of care
4. Improve access to specialist care, treatments and drugs.

It seems as though we are at the turning point for better provision of care for people living with a rare condition. This is to be commended – especially amidst the ambush of research resources that dealing with the global public health crisis of coronavirus has necessitated. However, what prevails for every patient living with a rare condition is the overriding sense of invisibility and lack of in-depth knowledge about the disease course itself.

• Read the full article in pharmaphorum's Deep Dive digital magazine