Rare diseases themselves aren’t all that rare. Whilst the definition of a rare disease is one which affects less than 1 in 2,000 people, collectively there are between 6,000 – 8,000 individual rare diseases. Around 1 in 17 people will be affected by a rare disease at some point in their lives. In the UK, this amounts to about 3.5 million people which is more than the population of Birmingham, Liverpool, Nottingham and Sheffield combined.

The solution

We want to raise awareness of rare diseases as a first step towards tackling them and improving outcomes for the people and families affected by them.

Case studies

I don’t let Fabry stop me from doing what I want to do

Fabry disease is a rare disorder caused by an enzyme deficiency in the body. University of Southampton student Sebastiaan Van Dyck from Belgium describes his journey with Fabry disease and how he copes with the condition.

Rare bone disease can’t stop speedy Anna

Anna Turner from Waringstown, Northern Ireland, recently celebrated her 8th birthday with family and friends. She lives with a rare condition called hypophosphatasia (HPP). Anna and her mum Jenna told us about what HPP is and how it affects their family.

More than just cold hands

February is Raynaud’s awareness month. Physiotherapist and Parkinson’s dance teacher Liz Hooks has the condition and for her, a little kindness and the offer of some hot water would go a long way to help manage it.

Taking control: Inspiring others to beat rare diseases

Karen Owen lives with a condition called hereditary angioedema (HAE). She has learnt to take control of HAE through self-management techniques and peer support.

There’s nothing we can’t do or achieve, but people with thalassaemia need understanding and support

Thalassaemia major is a serious, genetic blood disorder. People with the condition cannot make enough haemoglobin in their red blood cells. Roanna Maharaj was diagnosed with a severe form of the disease as a baby in the Caribbean. This is her story.

In the last 20 years we’ve seen huge improvements to diagnosis for rare diseases, but there is more to be done.

Genetic testing has a big role to play and the UK Government’s 100K Genomes Project – which in 2019 successfully reached its goal of sequencing the genomes of 100,000 people – is helping us learn more about many conditions.

This data can be used to improve our ability to spot and diagnose rare diseases, giving us a greater chance of understanding the disease but also putting into action treatments that could change someone’s life.

However, health professionals may not see that many rare diseases, and they may not know how to refer them for the testing available.

Getting more people diagnosed is also a challenge for the NHS, because services are not currently best configured to support the myriad of individual rare conditions that are now being presented.

The solution

We want to see more support for healthcare professionals to consider the possibility of rare disease in patients, so patients are referred for genetic testing.

We also want to see more support in place for patients after diagnosis.

Patients and clinicians must be involved in a debate on how to evolve services and support commissioning for rare diseases.

This must be a focus as we collectively develop the successor to the current UK Rare Disease Strategy. Whatever follows it has to chart a path to networked, sustainable rare disease services at scale.

Case studies

Expert opinion: Early diagnosis is key to improve outcomes for patients

Professor Derralynn Hughes is Professor of experimental haematology based at the Royal Free London NHS Foundation Trust and University College London, and an expert on a group of rare diseases called lysosomal disorders.

One thing I have learned while living with a rare disease is to never give up

Prabhjot is a is a university lecturer in living in London. She describes her experience of living with polymyositis for Rare Disease Day.

Rare Disease 101 - the first cross-rare disease course for healthcare professionals

Dr Lucy McKay, CEO of the charity Medics4Rare Diseases tells us why their new educational module – Rare Disease 101 - should be essential for all healthcare professionals.

Rare disease diagnosis is improving fast – but we need to support front line services

Not long ago, it was typical for a patient with a rare disease to find themselves bounced between clinical pillars and posts for many years before they received a diagnosis – if they ever did.

Companies are working hard to create the medicines of the future for people with rare diseases. In order to get those medicines to patients, they are evaluated by a number of regulators to make sure they are safe, effective and value for money for the NHS.

When working on a medicine for a rare disease, companies are inevitably working with smaller numbers of patients and therefore uncertainty in the evidence, which means that getting a medicine for a rare disease approved can pose a challenge. When there is a medicine available for a rare disease, we want to make sure that people who need it can get it quickly.

The NICE Methods and Process Review

The National Institute of Health and Care Excellence (NICE) is the body which advises the NHS on whether a new medicine is cost effective.

NICE is currently reviewing its methods and processes and is looking at how to address uncertainty in the evidence for a medicine.

The way that NICE calculates value for money for the NHS hasn’t changed in more than 20 years. These calculations need to be more flexible to reflect the full impact of new medicines on patients, carers, the NHS and society.   

The solution

• We are working with NICE on their review to overcome some of the challenges of uncertain evidence. One way this could happen is for NICE to use ‘conditional approvals’ for a medicine so that more data can be collected to resolve some uncertainty and patients can access new medicines as soon as possible.
• NICE should look at the value of medicines in a much broader way. For example, more account needs to be taken of disease severity, rarity and the impact a new medicine has on the patient and their family/carers.
• It is essential that the UK continues to collaborate internationally to safeguard valuable research on rare diseases, particularly now we have left the EU.
• We are arguing strongly to maintain a future relationship with the EU that means we can continue to participate in European Reference Networks.

Case studies

Evolving the UK health system to support innovation for the Rare Disease community 

Nicola Redfern, General Manager of Bluebird Bio in the UK, describes the commercial challenges for rare disease medicines in the UK and reflects on the opportunities of gene therapies.

Rare clinical research: Maximising the chances of success

Our President Haseeb Ahmad sets out how our industry is working to find treatments and cures for some of the world’s most complex diseases. Nowhere is the need to find new medicines more acute than in rare diseases, many of which are genetic and affect the youngest patients. 

Lets make rare disease treatments less rare

Genome sequencing and advanced therapies give hope to people with rare diseases and their families – our President Haseeb Ahmad says we have to get them into the hands of patients.