Rare Disease Awareness Day

February 28 marks the 7th annual Rare Disease Day, an important international occasion to raise awareness of rare diseases and their impact on people living with these conditions.

The 2014 Rare Disease Day theme is “Join Together for Better Care” and one way of doing this is to better understand what rare diseases are and the challenges these patients face.

1. In Europe, a disease is considered rare if it affects fewer than five in 10,000 people (0.05%).1
2. There are more than 6,000 different rare diseases.2 Combined, these diseases affect approximately 30 million European Union citizens.2

1. Lack of information3,4
2. Difficulty in obtaining a diagnosis, or misdiagnosis3,4
3. Few physicians experienced in treating rare disease3,4
4. Limited support services for the patient and family3,4
5. Patients and their families may feel isolated and frustrated, and can be emotionally and financially devastated 3,4

These challenges could also be associated with barriers in drug development. Due to the low number of patients living with specific rare diseases, researchers are often unable to facilitate the clinical trials needed to develop and bring life-saving medicines closer to patients. In addition, the scientific knowledge about and experience with rare diseases is limited. These are two of the reasons that the vast majority of rare diseases have no approved treatments.5

One example of a rare disease is multicentric Castleman’s disease or MCD, an ultra-rare disease in which, lymphocytes, a certain type of white blood cells, are over-produced and lead to enlargement of lymph nodes or other internal organs containing lymphoid tissue. This can cause a variety of symptoms and may weaken the immune system, making it hard to fight infections. In fatal cases, it can result in progression to non-Hodgkin’s lymphoma and result in death. MCD is so rare that it is currently not possible to track the number of cases worldwide.

It is important to improve understanding and awareness of rare diseases, not only on Rare Disease Day, in the hope that we can better support patients living with these conditions. Janssen is making significant progress in the fight against several rare diseases, including multicentric Castleman’s disease.

Rare Diseases Backgrounder

1. European Commission. Rare diseases – what are they? Available at: http://ec.europa.eu/health/rare_diseases/policy index_en.htm Last accessed December 2013.
2. EUORDIS Rare Diseases Europe. About Rare Diseases. Available at: http://www.eurordis.org/about-rare-diseases. Last accessed February 2014.
3. Office of Rare Diseases Research (ORDR). National Institutes of Health (NIH). Rare Disease Day at NIH. Available from: http://rarediseases.info.nih.gov/news-and-events/pages/28/rare-disease-day.
4. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington (DC): National Academies Press (US); 2010. 2, Profile of Rare Diseases. Available from: http://www.ncbi.nlm.nih.gov/books/NBK56184/.
5. National Center for Advancing Translational Sciences (NCATS). National Institutes of Health (NIH). FAQ About Rare Diseases. Available from: http://www.ncats.nih.gov/about/faq/rare/rare-faq.html.