Rare diseases are defined as diseases that
affect a small percentage of the population. Because of the rarity of each
disease itself, much remains unknown about many rare diseases. Lack of
awareness coupled with the health authorities' attitude towards rare diseases
lead to many undiagnosed cases or the diagnoses come after the disease has done
The Organization for Rare
Diseases India (ORDI)
was founded in 2014. The non-profit
organization, which serves an umbrella organization for rare disease patients
and other stakeholders in the country, aims to improve the health of patients
with rare diseases in India through awareness and advocacy.
Prasanna Kumar Shirol, a founder member of
ORDI, in an exclusive interview with Medindia, talks about the issues facing
patients with rare diseases in India. Mr. Shirol has worked extensively to create
awareness specifically on Lysosomal Storage Disorder
in India. He has
represented India at various international conferences and created a powerful
network of international parent and rare disease groups.
According to him, a lack of awareness about
rare diseases among patients, doctors and policy makers and the absence of
public policy on rare disease are the major problems in India. There is also a
need to create a national database on rare diseases. "A lot of work has to
be done in this field," he said. Excerpts from the interview:
1. Can you share statistics of rare diseases
The definition and classification of rare
diseases are arbitrary in different countries. There is no universally accepted
definition of rare diseases though it is generally accepted that a "rare
disease infrequently occurs in a population. However for India we do not have a
Rare Disease database with classifications on the number afflicted by the 7000
All rare diseases taken together affect about
6-8% of the world's population. About half of the rare diseases affect children
causing significant social and economic burden while the other half manifest in
In India it is estimated that about seven
crores of our total population is afflicted with some form of rare/genetic
disorders. Of the total, 30-40 lakh people are affected by one of the existing
7000 rare/genetic diseases. It is believed that approximately 80% of the total
is due to genetic causes given the high rates of consanguineous marriages in
various Indian communities.
2. What are the biggest challenges facing
patients with rare diseases in India?
Our nation faces numerous challenges in
awareness, public perceptions, diagnosis, treatment and public policy on rare
diseases. Some of the most significant ones identified by 'ORDI Genetics
Research 2014' are listed below:
There is a significant lack of awareness
about rare diseases among the public, and even among doctors in India. The
health care training and education system in our country are more focused on
training physicians and health care personnel to treat common diseases such as
infectious diseases. This has led to a pronounced dearth of trained physicians
and healthcare personnel to care for patients with rare diseases.
Inadequate training and facilities to
diagnose rare diseases in a timely manner is another disadvantage. If it takes
an average of 7 years to diagnose a rare disease in developed nations like the
USA, the average time to diagnose is likely to be greater in developing
countries. The average time taken to diagnose a rare disease in India is
unclear and indefinite. There is a lack of adequate statistics and data on
incidence as well as prevalence of rare diseases in India. The availability of
such basic information is essential for use by policy makers, physicians,
scientists, drug or device manufacturers, patients and the community at large.
A majority of patients with rare diseases in
India cannot afford the high costs of treatments even when available. Most
orphan drugs are not curative but palliative and need to be administered
regularly. These drugs are highly expensive and inaccessible to the majority of
the Indian population affected by rare diseases.
The incidence of rare diseases is believed to
be higher in India compared to western countries due to the practice of
consanguineous marriages in many communities. Social stigma for physically
challenged individuals and patients with rare diseases continue to be a
societal challenge that can only be addressed with education and awareness.
There is no specific push for research and
development in the field of rare diseases in India, although the programs by
funding agencies like the ICMR, Department of Science and Technology (DST),
Council of Scientific and Industrial Research (CSIR) as well as the Department
of Biotechnology (DBT) are noteworthy.
The Government should encourage and fund
Indian academic research laboratories as well as pharmaceutical and
biotechnology industries to take up scientific research work leading to the
development of diagnostics and drugs for rare diseases.
ORDI would persuade and assist the
(i) To enact an act similar to the Orphan
Drugs Act (ODA) of USA, and
(ii) To create a fund to support work related
to rare disease research, education and treatment by institutions that are
prepared to take up this work.
The Government has already started funding
such work in a small way, but we believe that a lot more needs to be done. A
national plan for rare disease research needs to be developed.
The lack of significant public funding for
rare disease research is another critical impediment in creating the much-needed
momentum for education, diagnosis and treatment of rare diseases in India
3. Can you tell us about rare diseases
identified in India that need more attention from policymakers and doctors?
In the absence of a patents registry or
database, it is very difficult to list top diseases and any number presently
available may not be justified. ORDI believes that 'No Human Life Should Be
Judged by a Statistic'.
4. Do we have a national government policy to
tackle rare diseases? If no, what should policy makers do to develop a national
We do not have a Government Policy
for Rare Diseases
. The Government needs to have a Task Force and
involve all the stakeholders to discuss and debate the need for Rare Disease
policy. ORDI being an umbrella organization and has already brought various
stakeholder together and can be engaged along with other disease-specific
ORDI is already in the process of developing
a Rare Disease Patient Registry. The registry can enable government policy
making through various statistics for prioritizing focus and budget allocation.
5. Tell us about major initiatives of ORDI to
help patients with rare diseases.
In last two years, we have undertaken
various initiatives to address some of these challenges.
- 24*7 Rare Disease Helpline - This
is India's 1st ever helpline which will address the need for relevant
information and will connect the public to appropriate resources. The
number: (+91 8892 555 000)
- Conducting awareness programs for
both Medical Professionals and other stakeholders.
- Organizing medical camps across
India to screen rare genetic diseases.
- Rare Disease Care Coordination
Center, which serves as a nation-wide hub to gathers patient information.