Rare Disease is any disease that affects a very less percentage of a population. Many rare diseases are serious, chronic, and progressive in nature while most rare diseases children do not get to see their 5th birthday. Although an estimated 70 million patients in India live with a rare disease, early diagnosis, interventions, accessible and affordable treatment is still a long way away.

The challenges faced by people with rare diseases and their families on a daily basis are hard to describe and depend on multiple factors- stage of diagnosis, economic status, treatment options, palliative care, etc. It might sound like an oxymoron, but if you put together the cumulative number of people afflicted with rare diseases and the struggles associated with the rare disease community, the number becomes humongous.

Patients and their caregivers, therefore, go through a very challenging time, compounded by the lack of other facilities and public access for such patients who often suffer from related physical disabilities.

Diagnostic odyssey in rare diseases is just cluelessly treading from pillar to post. It is the one misery that is common in most families with rare diseases. Besides the fact that it takes an average of seven years to diagnose a rare disease due to lack of awareness and diagnostics available, most treatment when available is either not accessible in India or it is exorbitantly priced, beyond the reach of an average Indian patient.

As a father of India’s first child diagnosed with Pompe, my Never-Ending quest took 7 years, 40 Doctors, and a multitude of tests to finally diagnose that my child suffered from a Rare Disease. Even after finding the answer, the saga didn’t end as I had to literally start from baseline to save my daughter’s life and provide treatment for my daughter with the support from International Pompe Association.

Running around from multiple doctors to conducting several tests without a proper healthcare system in place for Rare Diseases is something that needs to be addressed immediately. To best describe the scenario, at the ORDI, even today we get 1000s of calls from patients and families in need of guidance, annually on the Rare Disease Helpline.

With rare diseases, diagnostic tests become a given; there are initial tests, Regular monthly/quarterly assessment tests to check the condition of the disease in progressive conditions.  The cost of such routine tests like blood tests, X-ray to high end tests such as MRI alone can run from few to many thousands of rupees.  Apart from this, there are Genetic tests for suspected gene-related conditions; although these genetic tests are lower compared to International market values, the costs are hugely unaffordable for a common Indian Family.

There is an urgent need to address the diagnostic odyssey by means of early interventions and Diagnostic approaches such as NewBorn Screening programs, reasonably priced Genetic Tests, robust Genetic Counseling centres etc must be made an integral part of the healthcare system. The Government should implement Disease Surveillance programs at the earliest to guide families on the importance of Carrier Testing, suggesting Preventive Tests such as Prenatal and Antenatal tests.

A meagre 5 % of Rare Diseases have treatment options available; even those are hard to access as the drugs are available only in international countries or exorbitantly priced.  In India, the access to treatment funds for common people impacted by Rare Diseases is Nil; and treatments can run from a few lakhs to crores of rupees depending on the condition. Having said that, today there are many conditions that also cost less, and the burden of treatments such as IEM diets, IVIG, Minor Surgeries etc. can be managed with the existing policy; but the benefits are restricted only for BPL Families, and not the Average Indian. Karnataka is the only state where free treatment is available to everyone in the state, for Lysosomal Storage Disorders (LSD), and PID (Primary Immunodeficiency) based on Judiciary interventions, but the same can be availed across India only by ESI beneficiaries.  Then we have the RAN- Rastriya Arogya Nidhi of 15 lakhs, one time assistant for one treatment/intervention for group 1 diseases which include interventions like liver transplantation, stem cell therapy, etc. applicable only for BPL Families.

Treatment must be made available, and accessible for all treatable conditions by providing easy access to all FDA and EMDA approved medicines. Treatment protocols must be standardized for all identified diseases in India through evidence-based treatments and approach. Finally, we need access to International Clinical Trials with the combined support of all stakeholders of the RD Community.

Also, we do not have government infrastructure and facilities for diagnosing and treating Rare Diseases. There are probably only 100 plus well-trained Genetic Consultant available to the disposal of affected Families across India. If anything, people have to seek the private hospitals for consultations, treatments, and interventions, which is again very expensive for even a well to do family, let alone an average Indian family.

The cost of supportive Therapy, and also lifelong care for non-treatable conditions is also enormous. The family burden living with rare diseases is hard to put in perspective; there are multiple factors such as social stigma, lack of psychosocial support, palliative care, caretaker allowances etc. A Support system for untreatable conditions by means of dietary supplements, providing specialized therapies such as Physiotherapy, Occupational and Speech Therapy, and by giving access to medical devices must be implemented. There is also a need for combining different policies and their benefits –The present draft of Rare Disease Policy covers only BPL categories. Rare Disease Policy has to be drafted to be made accessible for all; there should be No Barriers.

We have heard inspiring stories of Crowdfunding recently where nearly 16 crores of funds were raised through the support of the public. The PM making his contribution by waivers towards treatment for one Rare Disease Child was a welcome move.  However, considering the actual Rare Disease burden of India, this is not the long-term solution.

India does not have a Health care policy for Rare Diseases in place, and whatever little benefits exist are only applicable for BPL Families. Patients and support groups are fighting for an inclusive Rare Disease National Policy. The Policy needs to address the major challenges of the RD Community such as diagnostic challenges, exorbitant treatment costs, and lifelong care of an RD patient.  The long-pending Rare Disease Policy is expected by 31st March; given the past draft of NPTRD, there isn’t much of assurance in finding answers for the current challenges. Ideally, the Central Government should work on the Rare Disease Policy, which is holistic, inclusive and beneficial to all sections of the Indian Rare Disease Community; we are expecting the early implementation of the Rare Disease Policy in a true spirit.

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From delayed diagnosis to lack of funds: India’s shaky rare disease road map