It can seem contradictory to talk about the large number of patients suffering from rare diseases—but when you realise that over 7,000 rare diseases have been identified, and that a rare disease is defined as a condition that affects fewer than 1 in 2,000 people, it becomes clear that rare diseases are a common problem.
While the causes, symptoms and response to different rare diseases are hugely diverse, most patients share common experiences, such as being overlooked by medical professionals, research programs and the general public. Patients of rare diseases can find it hard to get the support they need, spending months or even years with misdiagnoses, and finding it hard to find help and information.
While patients of common chronic illnesses are no strangers to pain and suffering, they at least have access to information, different treatment options, support groups and even charity organisations.
Armed with many unanswered questions, patients of rare diseases can find their health deteriorating, struggling to keep jobs and feeling increasingly isolated. This grim reality often leads rare disease sufferers and their family to take matters into their own hands—in fact, rare diseases are at the forefront of patient engagement in medical research and drug development, and this can be an overwhelmingly positive aspect of rare diseases.
One such example of rare diseases furthering medical research can be found in the case of the rare genetic illness, Familial Hypercholesterolemia (FH).
In FH patients, the system that monitors and breaks down ‘bad’ cholesterol is damaged, meaning that less is removed from the blood. Normally, the breakdown of cholesterol also tells the body to slow its natural cholesterol production. However, FH patients don’t break down the bad cholesterol, so it keeps being produced, clogs the blood vessels and can increase the risk of a heart attack.
By studying FH, scientists gained a better understanding of how cholesterol is managed in the body. This led to the discovery of statins—drugs that slow the body’s natural cholesterol production and increase the removal of bad cholesterol from the blood. While this can help FH patients, it has also helped millions of people who have high cholesterol and are at risk of heart disease.
FH is an example of a “fundamental disease”—what happens when a rare disease acts as a gateway to understanding, or even treating, much common conditions.
For pharmaceutical companies, rare diseases linked to common conditions can often act as a gateway into a larger market, and this can bring much-needed investment into rare disease research.
Challenges of Rare Science
Despite this silver lining, research of rare conditions is still a long and challenging road—both for doctors and patients—caused by a lack of research, knowledge, and treatments. Why is rare disease science so hard?
1. Patients are rare: to research a condition you need to find patients. These are few and far between for any rare condition, and until a disease is well understood, securing an accurate diagnosis is also challenging.
2. Knowledge is limited: With little pre-existing knowledge and few disease models, it is hard to identify potential treatments.
3. Multiple symptoms treated by different specialists: doctors often specialise in a certain body system, but many rare diseases affect multiple systems. When different symptoms are treated by different doctors no one has the full picture and key connections will be missed.
4. Funding: funding is harder to secure if the condition is not a research priority for governments, industry, funding bodies, or charities.
5. Market: developing a treatment for a rare disease can be less expensive than for a more common illness, but the costs are still high. With a limited number of patients to treat the pharmaceutical industry can view the development of rare disease drugs as financially non-viable.
You can find information and support from the charity Rare Disease UK (http://www.raredisease.org.uk) , which works with health departments across the UK to implement the UK Strategy for Rare Diseases to ensure that patients and families living with rare conditions have equitable access to high quality services, treatment and support.
Rare Disease UK is a campaign run by Genetic Alliance UK, the national charity of over 200 patient organisations, supporting all those affected by genetic conditions.
This feature was originally published in the winter edition of Live to 100 with Dr Hilary Jones, which you can read here