Today is Rare Disease Day, which takes place each year to recognise the 300 million people worldwide living with a rare disease, their families and carers. In this blog, we explore the challenges and advances of rare disease research and management within the field of immunology.
Despite what their name might suggest, approximately 3.5 million people are currently living with a rare disease in the UK alone. The term ‘rare disease’ is used to describe a condition that affects fewer than 1 in 2,000 people, yet there are 7,000 diseases that are classed as rare. Collectively rare diseases are actually common – 1 in 17 people will be affected by a rare condition within their lifetime.
Rare diseases are difficult to study and identify, with their low prevalence meaning they are not often given priority in research and development or clinical training – as many clinicians are unlikely to encounter certain rare diseases during their careers. As a result, individuals living with a rare disease often experience long waits for diagnosis, and limited treatment options, with only 1 in 20 rare conditions having approved treatment. Furthermore, children are disproportionately affected by rare conditions with almost three quarters of rare conditions affecting children.
Rare diseases can be caused by various factors. The most common being genetic, with 80% of rare diseases caused by a change to an individuals' genetic code. The immune system is often a site of these mutations and is affected in many rare diseases, including autoimmune rheumatic diseases, primary immunodeficiencies and non-MS autoimmune diseases of the nervous system.
A spotlight on primary immunodeficiencies
Primary immunodeficiencies (PID) are a group of over 450 rare conditions, in which the immune system's ability to fight infections is weakened or absent. These can cause symptoms such as frequent, repeated infections that can be long-lasting and severe or unusual infections. These frequent infections can have a profound impact on quality of life, with severe disorders affecting life expectancy.
While exact figures for the number of people with PIDs are unknown due to a lack of screening, over 4,500 individuals are currently registered on the UK Primary Immunodeficiency registry. PIDs can be hard to diagnose as the frequent infections that make up the primary symptoms of PID can be attributed to ordinary illness, particularly in children.
Once someone has been identified as having a suspected PID, they will be referred to clinical immunology, the specialist service for immune related disorders. These services and the professionals who work in them are vital in treating and supporting those with PID to improve quality of life, provide answers to patients and families looking for the cause of their disease, and give lifesaving therapies.
Compounding the challenges around PID diagnosis, there can be a postcode lottery for individuals with PID and the clinics they can access, with not every hospital providing specialist services. Through raising the profile of clinical immunology, the BSI Clinical Immunology Professional Network (BSI-CIPN) aims to support growth in these services across the UK.
The BSI-CIPN's mission is to further champion the work being undertaken by clinical immunology healthcare professionals through education and training, advocacy and engagement, and research. Through working with patient groups and other professional bodies, the BSI-CIPN aims to make a difference to clinical immunology and improve patient care.
Rare Disease Day
It’s important to remember that difficulty of diagnosis and access to specialist care are not issues unique to PID, with similar stories for almost all rare diseases. Rare Disease Day raises awareness for individuals living with a rare disease worldwide on the last day of February each year. Find out more about Rare Disease Day with UK specific information at Rare Disease UK.
Rebecca Milton
External Affairs Intern