Dear Editor,
A disease is considered rare disease (RD) when it affects
less than one in every 2000 people.[1] The World Health
Organization defines RD as a debilitating disease or lifelong
condition with a prevalence of one or less per 1000 people.
However, several developed and developing countries have
their own definitions. It is a health condition that affects a
smaller size of the individual patient population as compared
to other prevalent diseases in the general population and
has a startling social cost. The most common RDs include
autoimmune diseases and lysosomal storage disorders,
such as Pompe disease, Hirschsprung’s disease, Gaucher’s
disease, cystic fibrosis, hemangiomas, and specific types of
muscular dystrophies. The most common RDs that affect
children are hemophilia, thalassemia, sickle cell anemia,
and primary immunodeficiency.
RDs are often chronic, debilitating, and life‑threatening in
nature and can develop at any stage of life. Few of these
diseases are preventable and can lead to unfavorable living
conditions.[2,3] Less than five to seven individuals out of
10,000 are affected by RDs, although 6%–8% of the world’s
population is affected globally.[4] According to the Ministry
of Health and Family Welfare, 72–96 million Indians are
affected by RDs.[5] According to Orphanet data, among the
6172 unique RDs, 71.9% were genetic and 69.9% were
disproportionately impacting children.[6] The scientific
knowledge and medical understanding of RDs is inadequate
due to their complexity, heterogeneity, and ever‑evolving field.
RD awareness, as well as a lack of treatment alternatives,
may make the entire process from diagnosis to therapy
difficult and uncertain. RDs have emerged as a primary public
health priority owing to the challenges imposed by their low
prevalence, especially their continuous, life‑threatening nature
and lack of information and expertise.[7]
There is inadequate epidemiological data to quantify the
burden, and research and development options are limited.
It is difficult to estimate the exact number of people affected
by RDs, as the majority of RDs are not documented, except
in certain developed countries. Government indecision on
the provision of health‑care access is caused by gaps in
the maintenance of electronic health records or registers
of cases noticed in the underprivileged and vulnerable
sectors of society. Clinical trials are a crucial component
of the drug discovery process. It is completed in stages and
involves identifying numerous individuals suffering from
particular medical conditions and developing a robust trial
design to demonstrate the efficacy of the medicine. This
issue significantly worsened in the case of RDs. Finding
patients qualified for clinical trials typically involves
The Burden of Rarity: Rare Diseases and Future Perspectives
Editorial
significant search expenses. Given the rarity of patients and
in their entire professional careers, a significant percentage
of doctors in practice reported never having seen a
patient with a RD,[8] finding the correct diagnosis takes a
substantial amount of time. Clinical trials are expected to
be expensive because pharmaceutical companies will most
likely have to spend a substantial amount of money.
RDs affect not only the individuals who suffer from them but
also their families and communities. Due to the prohibitively
high cost of treatment, the impact on families is frequently
disastrous in terms of both the emotional and financial
tolls. Often, the patients’ and their caregivers’ medical
and social needs are unmet, which leads to experiencing
a severe psychosocial burden.[9] The individuals with RDs
and their family caregivers’ vocational aspects (education
and employment) will be adversely affected due to the
difficulty in accessing health‑care medical services for the
management of RDs, which leads to poor health outcomes.
A qualitative study from the USA reported that individuals
with RDs had experienced three types of stigma: Structurally
enacted, interpersonally enacted, and felt stigma.[10]
There is a need to enhance the awareness, advocacy, and
implementation of outreach programs about these RDs in
low‑income countries, among marginalized, poor literacy
populations. However, research on the impact of RDs on
psychosocial, economic, and vocational aspects of individuals
with RDs and their family caregivers globally is lacking.
Individuals with RD’s cannot afford health‑care services
due to the high cost of treatment, diagnostic evaluations,
medications, etc., especially in developing countries.
Usually, healthcare end‑up spending is spent on people
who are diagnosed late. This may often result in a terminal
patient who needs to be managed with expensive therapies
and rehabilitation. The government can implement the early
detection programs, as it can save time and resources and
reduce costs. A patient can be managed with less costly
interventions while providing better care and quality of
life. Early screening and diagnosis of RDs are critical for
the prevention of perinatal and neonatal disorders such as
Angelman syndrome, Carpenter syndrome, craniofacial
disorder, Hutchinson‑Gilford progeria syndrome, and
Wiedemann‑Rautenstrauch syndrome. In addition, drug
development can be performed using an artificial intelligence
algorithm that can potentially reduce costs and preclinical
work compared to a fraction of traditional methods. The
electronic health records of patients with RDs should be
should be introduced and maintained so as to aid in future
researches on RDs. From this data, crucial health information
related to RD patterns can be identified regionally. 2023One of the best methods for a proactive approach to therapy is networking and the exchange of experiences. Networking is one of the most valuable assets for people with RDs. Having a community will not only be a poignant reminder of the energy that people with RDs put into their lives every day but it will also be a valuable opportunity for them to feel less alienated in their ongoing struggles.In summary, the fact that effective therapies are frequently unavailable adds to the amount of agony and suffering experienced by patients and their families. The government must establish a plan to raise awareness of the severity and impact of RDs on patients and their families, and simultaneously conduct research and plan for better diagnosis and treatment, develop pharmaceuticals drugs that are accessible, affordable, and provide insurance coverage for treatment. Furthermore, patients with RDs typically face challenges owing to their low prevalence and lack of knowledge among their healthcare providers. As there is an urgent need to bridge the gap in physicians’ understanding of RDs, it is prudent to introduce additional courses on these diseases in the medical curriculum and postgraduate training for physicians. The internet is the primary source of information on RDs, and e‑learning programs and courses should be implemented for all medical practitioners.