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.

This unpredictability causes fear and frustration to patients and researchers alike. To these patients, carers and researchers, there is ‘rarely’ a day when they have respite from worry about their condition. It is their ‘every day’.

For a young adult with cystic fibrosis, something as simple as a friend greeting them affectionately can trigger a fear of infection that might compromise their already vulnerable lungs. The mother caring for a child needing 24/7 ventilation who has to sit in the car in the school car park should her daughter require an urgent tube change is frustrated as to why the doctors at the hospital can’t provide more enduring solutions to allow ‘normality’ as she juggles every aspect of her and her daughter’s lives. Dislocating another toe from a simple stumble getting out of the bath isn’t life-threatening but is infuriating for someone with Ehlers-Danlos Disease to have to explain to their employer why they will struggle to get to work again. All of these are the everyday impact of life with a rare condition and it will take more than one day, one month or one government publishing a paper to keep making these invisible challenges visible.

Focus on insights

Visibility is key and that’s why the zebra has been adopted as a symbol for sharing patient stories about rare conditions. We believe that collaboration with research organisations is also imperative in the diagnosis and development of new medicines to help people living with a rare disease. That’s why we dedicate our expert resources under an initiative called ‘Focus on rare’.

‘Focus on rare’ began as a series of insights-gathering sessions with the patient groups we work with to unearth the ‘invisible insights’ that are the catalyst for pharma to bring everyday solutions and patient support services into focus. It is evolving into a project to transfer insights and expertise between the patient groups we work with and the pharma clients we work for.

In essence, ‘Focus on rare’ is a social health movement to ensure that physicians and patients have a curated space from which they can quickly and easily understand respectively a) where they can find information to piece together a (more informed) diagnosis or b) gather understanding on their condition. In both cases the goal is directing either physicians or patients to expert physician communities or patient groups and sharing real world experience insights with researchers.

We ask the questions:

  • What’s the hardest thing about living with/caring for someone with a rare condition?
  • How does the condition impact on you every day?
  • What would you like the world to know about living with a rare condition?


So far, the responses are overwhelmingly familiar – every day brings fear and frustration (see box).

Fear and frustration: the invisible insight

“Every day with a life-limiting condition is very frustrating and stressful. Even doing simple tasks takes longer and needs more concentration. Because it can affect balance, co-ordination and speech, being accused of being drunk is a common experience.”

Alan has ataxia, which is a general term covering a group of rare disorders that cause progressive balance and motor control problems

“The hardest thing is finding healthcare professionals who understand the condition (or even know about it) and can provide tailored care. My body doesn’t respond to all treatments the way ‘normal’ people’s do!”

Shona has Ehlers-Danlos Syndrome – a group of rare, inherited conditions that affect connective tissue

“Eve is very rare in her severity of condition: it had been 15 years since they had seen anything even remotely like her at hospital. The condition itself has caused so many other conditions: the unknown is the hardest part.”

Becca, mum to Eve who has Congenital Diaphragmatic Hernia, which affects one in 10,000 newborns

“Because it is so rare, there is limited research and medical publications on r(20) so the future for David is unknown – will his condition get any better, stay the same or get worse?”

Alison Watson, co-founder of ‘Ring 20’, a patient organisation on the search for solutions for her adult son’s rare epilepsy

Focus on fatigue and stress

‘Focus on rare’ has included insights work with people who have ultra-rare, drug-resistant forms of epilepsy, pulmonary arterial hypertension, rare ocular disease, Duchenne muscular dystrophy and rare pain conditions such as vulvodynia and chronic regional pain syndrome. Through this work, we know that the everyday fatigue and fear are the ‘common’ symptoms of living with rare conditions.

Bee, who has Bechet’s Syndrome, a rare chronic auto-inflammatory multisystem disorder of unknown cause told us; “The hardest thing for me is waking up (and getting up) on a weekday morning not knowing if I have enough energy to see me through the working day. Your body aches like you’re coming down with the flu – and yet nobody knows you’re in pain. Living with a rare condition should be classed as living with a disability – not all disabilities are visible.”

A rare disease is defined as a condition that affects fewer than one in 2000 people. However, as Alison Watson explains, having and/or caring for someone with a rare disease affects far more than one in 2000:

“David has to have a support network around him constantly to be able to live a normal life and experience all the things we take for granted. The stress on David and the family is considerable and yet rarely acknowledged.”

Transferring insights to focus on research

R&D for rare diseases is challenging – variations in disease subtype, complex pathophysiological backgrounds and clinical profiles, and small patient numbers all make clinical trials difficult. But can more be done for everyday supportive care for patients and family members that makes the everyday challenges more visible? The insights generated from our ‘Focus on rare’ initiative suggest avenues of commonality for patient engagement, information sharing and community provision – all of which pharma is so excellent in supporting for people with chronic conditions.

Treatments for rare diseases are rare – but patient support and visibility of the challenges that patients with a rare condition face are not. We asked our patient groups for their ‘final thoughts’ to encourage research organisations.

“There needs to be more funding and opportunity for the basic building blocks for research for rare diseases such as patient registries and natural history studies,” says Alison.

This is the priority for medical research. For all participants in our ‘Focus on rare’ initiative, there was another common wish, articulated by Bee: “Sometimes I don’t even have the energy to get up and help my daughter; that makes me sad, just knowing that people might understand the impact of this condition on my everyday life would help me.”

Focus on rare means to focus also on basic patient care. Every day.

Thank you to our Patient Participants who kindly shared these insights with us.

About the author

Emma Sutcliffe has been a medical writer and leader in patient engagement since 1995. Emma is head of patient engagement at NexGen Healthcare Communications and a lecturer in patient engagement and social and public health at the University of Cambridge.

About NexGen Healthcare Communications

NexGen Healthcare Communications provides medical communications that create value for clients, healthcare professionals and patients.

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