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
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