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Rare Disease Day & National Science day 

March 1, 2020

Organized by Foundation for Research on Rare  Diseases and Disorders, Rare Diseases India, and the Public Library, Periyar Nagar, Chennai 600082 

அரிய நோய் விழிப்புணர்வு நாள் 

Compilation of proceedings of the event by Anandhi Narayanaswamy MSc., M.S. 

February 28 is celebrated in India as the National Science Day. On this day in the year 1928, Sir C.V. Raman made his breakthrough discovery of the Raman Effect (related to light scattering), for which he received the Nobel Prize. February 29 on a leap year, and February 28 on a non-leap year, is observed worldwide as the Rare Disease Day to improve awareness about rare diseases among public and policy makers. The Science & Nature Club meeting on Sunday, March 1, 2020 at the Periyar Nagar Public Library, marked both these observances by hosting a talk on ‘Rare Diseases – Know the Science’ by molecular biologist Dr. Duraiswamy Navaneetham. 

What are Rare Diseases and Disorders?

Almost everyone is familiar with common diseases such as diabetes or hypertension, that are widely prevalent in society. But not many would have heard about Wilson’s disease or Noonan’s syndrome or William’s syndrome or Goucher’s disease. These are uncommon diseases or ‘rare’ diseases (rare in occurrence), sometimes even referred to as ‘orphan’ diseases (as they do not get the required attention from governments, medical communities or pharmaceutical companies).

World Health Organization (WHO) defines a disease as rare if its occurrence is 1 in 1000 people or less. Generally disease with fewer than 100 patients per 100,000 population is considered as a rare disease while one with fewer than 2 patients per 100,000 is described as ultra rare disease. There are more than 7000+ diseases or disorders identified a rare or ultra rare.

How are rare diseases different for other common ailments?

Say a person suffers from the ill-effects of a disease (a rare one that he is not aware of). He goes to a doctor whose first line of treatment is to treat the symptoms. Days and weeks pass and the dissatisfied patient switches to another doctor. Even in case the doctor goes beyond the symptoms to suspect an underlying medical condition, precise medical tests are not widely available to help diagnose the condition (unlike how a simple x-ray can reveal a fracture or a random blood test with a home kit can point to an increased or decreased blood sugar level). In the case the doctor does correctly diagnose the rare disease, there is no guarantee a drug is available to treat or cure the condition. Even in a few instances where the drug is available, it is most likely to be a very expensive one.

What are the pitfalls a rare disease patient or caretaker has to deal with?

1. General population lacks awareness about rare diseases.

2. Doctors and medical practitioners lack sufficient knowledge to diagnose or sometimes even suspect a rare disease or disorder.

3. Diagnostic tools may not be available for an exact diagnosis.

4. Drugs are mostly not available, and even if they are, they are prohibitively expensive.

 5. As the return on investment for research and development (R&D) of a rare disease and its curative drug is not promising, there is lack of sufficient funding from government and pharmaceutical industries.

6. Insufficient research leads to poor understanding of the disease mechanism which is a major step towards drug discovery.

7. More specific to India, a patient may not stay with one doctor. There is no continuity in medical record maintenance.

8. There might even be several rare diseases that are indigenous and native to the local population that are yet to be identified and more research is needed in the area. (Madras Motor Neuron Disease, Handigodu Syndrome and Kyasanur Forest Disease are some of the native rare diseases that have been identified in India). 

What is the need of the hour?

We need a comprehensive rare disease law to aid medical community and pharmaceutical stakeholders to invest time and money into working more on these diseases.

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta in latin means ‘Imperfection in Bone Formation’. Bones are a complex of minerals composed of hydroxylapatite and collagen (incidentally the structure of protein collagen was discovered to be a triple helix by noted physicist G.N. Ramachandran in a landmark discovery in 1952 at the Madras University). Osteogenesis Imperfecta is a rare genetic disorder caused by lesser or lower quality or quantity of collagen in the bones, leading to imperfection in the bone structure formation that causes physical disability. No specific medical treatment is available for this rare disease. Palliative care such as pain management or physical aids such as wheelchair can be provided to mitigate the debilitating disease condition.

Images: Dhurai AN & Venkateswaran G                                                                                                This page was created on March 3, 2020