Why in News
The tragic death of 19-year-old child actress Suhani Bhatnagar from dermatomyositis.
Its a rare disorder that causes inflammation in muscles, came in the same month as Rare Disease Day.
The last day of February every year is consecrated to support crores of individuals who, because of their rare medical conditions, have long been neglected and stigmatised.
According to the World Health Organization, rare diseases afflict 1 or less per 1,000 population.
Barely 5% of the over 7,000 known diseases worldwide are treatable.
Most patients typically receive only basic treatment that alleviates symptoms.
Some require exorbitantly priced antidotes and supportive medication throughout their lives, which they can’t afford.
What is Dermatomyositis
Dermatomyositis is a rare autoimmune disease that causes inflammation of the muscles and skin.
It's part of a group of muscle diseases called inflammatory myopathies.
While the exact cause is unknown, it's believed to be the result of the immune system mistakenly attacking healthy tissues.
Symptoms of Dermatomyositis:
Muscle weakness: This is typically gradual and affects the hips, thighs, shoulders, arms, and neck muscles, making it difficult to perform daily activities like climbing stairs, combing hair, or getting up from a chair.
Skin rash: A characteristic heliotrope (purple-red) rash appears on the eyelids, bridge of the nose, and cheeks, often resembling a butterfly. Another rash, called Gottron's papules, may develop on the knuckles, elbows, knees, and cuticles.
Other symptoms: Difficulty swallowing, fatigue, weight loss, joint pain, and interstitial lung disease (affecting the lungs) can also occur.
There is no cure for dermatomyositis, but treatment focuses on managing the symptoms and improving quality of life.
This may involve:
Corticosteroids: These medications suppress the immune system and reduce inflammation.
Immunosuppressants: These drugs further dampen the immune system's activity.
Physical therapy: Exercises can help maintain muscle strength and function.
Speech therapy: This can help improve swallowing difficulties.
Rare diseases in India
India accounts for one-third of the global rare disease incidence.
This is with over 450 identified diseases.
These range from widely known ones such as Spinal Muscular Atrophy and Gaucher’s disease to lesser-known ones such as Mucopolysaccharidosis type 1 and Whipple’s disease.
Roughly about 8 crore-10 crore Indians suffer from one rare disease or another.
Over 75% are children.
Yet these diseases are largely overlooked.
Resource constraints apart, India languishes near the bottom on awareness, diagnosis, and drug development for rare diseases.
After many nudges from the courts, the Ministry of Health and Family Welfare formulated a national policy to treat rare diseases in 2017.
But it withdrawn in 2018 owing to “implementation challenges” and confusion regarding disease coverage, patient eligibility, and cost-sharing.
A revised policy, the National Policy for Rare Diseases (NPRD), was announced in 2021, but problems persist.
We still don’t define ‘rare diseases’, a failure the policy attributes to a lack of sufficient data, as if regular data collection and epidemiological assessments are not the government’s job.
Timely and accurate diagnosis is indispensable for the robust management of any disease, yet for rare disease patients, it takes an average of seven years for their conditions to be diagnosed (if at all).
Physicians are generally unaware of how to interpret the signs and symptoms; healthcare professionals must be trained to improve their diagnostic accuracy.
Expectant mothers with a history of rare diseases in their family must undergo mandatory pre-natal screening and post-natal diagnosis and care.
Less than 50% of the 450-odd rare diseases identified in India are treatable.
Worse, treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence.
Since CoEs are few (12), unevenly distributed, and uncoordinated, late diagnosis, inadequate therapies and lack of timely availability are the norm.
Funds are a major challenge too.
The Budget’s allocation for rare diseases, although increasing over the years, remains low at ₹93 crore for 2023-2024.
In previous years having seen reductions of up to 75% from the Budget Estimate stage to the Revised Estimates and an even worse reduction of 90% in actual expenditure.
Under the NPRD guidelines, up to ₹50 lakh is allowed per patient, which will be disbursed to the concerned CoE.
As chronic rare diseases usually require lifelong management and therapy, this amount is woefully inadequate.
Consequently, the CoEs are wary of beginning any treatment that they may need to suspend later, leaving them vulnerable to judicial action from patients and their kin.
The confusion shows in the fund utilisation.
For instance, more than ₹47 crore of the ₹71 crore financial assistance allocated to the 11 CoEs for the current year remains unused.
There is no parity between CoEs, with Mumbai exhausting all its funds (while treating only 20 of 107 patients) and Delhi utilising less than 20%.
And in a classic case of abdication of governmental responsibility, NPRD has urged the CoEs to crowdfund to treat rare disease patients.
A portal with over 1,400 registered patients has collected less than ₹3 lakh in three year
National Policy for Rare Diseases
The National Policy for Rare Diseases in India was formulated in 2021 with the aim of addressing the challenges faced by individuals with rare diseases.
Objectives:
Focus on preventive strategies like awareness, screening, and counseling programs to prevent the birth of children with rare diseases where possible.
Enabling affordable access to healthcare.
The policy seeks to make treatment options more accessible within existing health care priorities.
The NPRD defines a rare disease as one with a prevalence of less than or equal to 1 in 5000, or as notified by the government periodically.
It categorizes rare diseases into three groups:
Group 1: Disorders amenable to one-time curative treatment.
Group 2: Diseases requiring long-term or lifelong treatment.
Group 3: Diseases with insufficient current understanding to offer treatment.
Up to Rs. 20 lakhs will be provided under the umbrella scheme of Rashtriya Aroya Nidhi to eligible patients belonging to about 40% of the population (aligned with Pradhan Mantri Jan
Arogya Yojana norms) for treatment of rare diseases in Group 1.
Patients can use crowdsourcing platforms to raise additional funds for treatment.
Centers of Excellence:
Eight health facilities are designated as Centers of Excellence for the prevention and treatment of rare diseases.
These centers are also eligible for one-time financial support of up to Rs. 5 crores for upgradation of diagnostic facilities.
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