– Dr. Harsha K Rajasimha
The last day of February is observed each year globally as international rare disease day – a day to honor the estimated 350 Million patients suffering from and living with one of 7000+ rare diseases.
The number of patients in USA is ~30 Million, in EU its another ~30 Million, in India, its 70 Million and the list goes on. Some of these patients with lysosomal storage diseases, Muscular Dystrophies, ALS, retinopathies and various other idopathies represent the literally weakest strata of the society. Each year, ~643,000 Americans file for bankruptcy due to Medical Bills. About 80% of RDs are genetic in origin, many of them caused by mutations in a single gene. 50% of RDs are onset at birth and the rest are late onset.
Yet, each country’s healthcare system seem to be complacent by counting the number of healthy citizens, or concerned mainly about the patients with common diseases such as Diabetes, cardiovascular, infectious diseases and Cancer. Advances in biomedical sciences is making it clear that Cancer is not a single disease, its a group of over 200 types of diseases – many of which are rare forms. Even infectious diseases such as Ebola are quite rare but deadly. Malaria – a common disease in certain countries is designated rare in EU, USA and some other countries. Millions die with such diseases each year globally.
National Institutes of Health in the US has a dedicated office for rare disease research under the national center for advancing translational sciences (NCATS). If you are in the washington DC area, participate in the NIH rare disease day activities: https://ncats.nih.gov/rdd
In 1983, USA became the first country in the world to formally recognize the needs of patients with rare diseases by enacting an Orphan Drugs Act to accelerate the discovery, development and approval of diagnostics, therapies and devices for rare diseases (orphan products). Several countries have adopted the model in their own ways.
There is a clear need for a national umbrella organization to represent the collective voice of all patients with rare diseases – for scattered voices die fast in most countries.
In India, there was neither a national umbrella organization, nor formal acknowledgement of the needs of patients with rare diseases until few years ago. Not anymore, the Organization for Rare Diseases India (http://ordindia.org) was conceived in early 2013 to address exactly this unmet need. The collaborative Organization has engaged major key opinion leaders in the field to publish the first research review article “Addressing the Challenges and Opportunities for the Indian Rare Diseases’ Community”.
ORDI has launched its annual rare disease awareness event “Racefor7” #ORDIRacefor7. http://www.racefor7.com on last Sunday of February each year. The event is sponsored by major multinational corporations such as Quintiles IMS, Sanofi Genzyme, Shire Pharmaceuticals, and numerous local organizations, individuals and most importantly patients. If you are in the Washington DC area, come join us at Washington Monument National Park opposite Whitehouse at 9:45am for a kickoff.
Let us not get carried away by counting the strongest and richest people in the country – for the chain is as strong as its weakest link. In healthcare, the weakest links are patients with rare chronic diseases – for they live each day with the condition and all the social, economic, emotional, and physical challenges that come with them. Let us stand in solidarity with the patients on this occasion and on each day in our own ways.