300 million people worldwide living with a rare disease

There is not a universal definition of a rare disease and their prevalence differs among countries. The EU and UK define a rare disease as a group of heterogeneous disorders that affect one in 2000 people within the general population. By this definition, there are currently over 6000 rare diseases that affect 300 million people (approximately 3,5 to 5.9% of the population) of which 70% are exclusively of paediatric onset. 72% of rare diseases are of genetic origin of which 80% of mutations are inherited, mostly associated with rare cancers, whereas the remaining percentage are caused by infections, allergens, or other environmental factors. The most common and well known rare diseases are Ehlers Danlos Syndrome (EDS), sickle cell disease, cystic fibrosis, Duchenne Muscular Dystrophy (DMD), and haemophilia, which are only a few examples of the vast list of rare diseases.

Many are genetic in origin or have a genetic component. Others arise from exposure to infections or toxins, from faulty immune responses, or occasionally from adverse responses to therapeutic interventions for other conditions. For many rare conditions, the causes are frustratingly elusive.

People living with a rare disease have a long journey to go through.

Due to their genetic nature, several rare diseases begin at birth with the first symptoms developing during childhood. Despite scientific progress, patients with rare diseases are still encountering serious challenges due to a plethora of scientific knowledge deficiencies, and obtaining the correct diagnosis is the first obstacle. Owing to the wide range of diversity and complexity within a specific rare disease and between different rare diseases, these group of disorders are difficult to properly recognise, resulting in a delay in diagnosis. Few specialised medical personnel and the long wait times to see such a specialist contribute to the common outcome of misdiagnosis, prolonging the time to obtain the final diagnosis—on average 5 years. As a consequence, these delays expose each individual to high risk of worsening and detrimental outcomes.

Parents of children with a rare disease describe the period between the onset of the first symptoms and the final diagnosis as having a large physical and psychological impact. They, along with their children, bear the burden, which represents the main source of stress and anxiety. The scarcity of information provided by professionals generates frustration and disappointment within families and patients. In addition, the lack of adequate health-care support increases the feeling of isolation and promotes mental health issues, leaving patients and their families alone. Schools are typically not equipped or funded to support children living with rare diseases and, as such, families struggle to find inclusive places designed to integrate their children into an educational environment and social life that their peers enjoy.

Despite the expansion of screening and genetic testing, there is still considerable diversity in newborn screening between countries and the high costs of these tests are a key barrier to equal access for every patient. These disparities are not only between different regions but also in the same regions. For instance, in Europe, Italy and the Netherlands have a strategy of newborn screening to detect over 40 rare diseases, compared with Germany and France that screen for only six rare diseases. Treatment options remain limited, with less than 5% of rare diseases having a treatment and only one-third of patients have access to medicine. Bringing a new treatment to the market is a long process which usually takes several years, and the costs are consistently high. Indeed, innovative technologies, such as antibody therapy, enzyme replacement therapy, gene therapy, and stem cell therapy, which have proven to be effective for several rare diseases, demand substantial manufacturing costs. As a result, pharmaceutical industries are unwilling to invest in producing new therapies for rare diseases. Therefore, funding for rare diseases is in short supply and researchers struggle to contribute to progress with their studies. In addition to funding constraints, there is still a lack of public awareness, which can result in people living with rare diseases and their struggle being invisible to the rest of the world.

It is time to act by filling knowledge gaps to support patients and health-care systems. This can be achieved by providing the appropriate information and each patient with the correct genetic testing. Specialists need to be supported by increasing resources and training in order to shorten the long diagnostic journey. Robust programmes and public resources are required to educate public health-care systems in supporting patients with rare diseases and their families. Increased funding for research into rare diseases is required to expand the current body of knowledge. Pharmaceutical industries should invest more in developing new therapies as well as reduce the sales costs of available therapies to improve their accessibility to many patients. Important plans and strategies for newborn genetic screening can speed up diagnosis, identify the right treatment, and save or ameliorate the life of many babies. People living with rare diseases are calling for equity, to be recognised by the world, and to live their lives like everyone else. – Source: The Lancet

Did you know?

A disease is considered rare if it affects fewer than approximately 65 per 100 000.

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Interesting facts

300 million people worldwide live with a rare disease.

There are over 6000 different rare diseases

72% of rare diseases are genetic

70% of these genetic rare diseases begin in childhood