An appeal for a more inclusive, representative, and accessible National Rare Disease Policy

As we observe the World Rare Disease Day on 28^th of February, *Clarinda Cerejo stresses that in the absence of clear guidelines for fund disbursement, or for patients in primary care centres to be referred upwards to the handful of CoEs, where should millions of patients turn?

In 2016, Sunita (name changed) was a 29-year-old healthy working woman and a single mother to two young children, living in Indore. She worked as a cleaning lady in a corporate office.

One morning, Sunita woke up with blurry vision in her left eye. Her GP prescribed eye drops for a supposed infection.

Five days later, her vision was worse, accompanied by a new tingling sensation along her left arm and heaviness in her left leg. Her GP now treated her for a suspected viral infection that sometimes irritates the nerves.

The following week, Sunita lost vision in her left eye and had to drag her left leg to walk. The tingling sensation along her arm was now excruciating pain that felt as though her skin had come off.

She was hospitalised and underwent a range of blood tests, physical tests, eye tests, spinal fluid taps, and MRIs. She was administered steroid infusions for 10 days and prescribed oral steroids for 1 month.

She was discharged after 20 days with no clear diagnosis. Her employer generously footed her hospital bill of over Rs 2 lakhs.

Sunita’s symptoms improved, but learning to walk again meant a month of agonising daily physiotherapy.

By 2022, Sunita had 7 similar episodes of strange symptoms involving sensory disturbances, muscle weakness, temporary vision loss, and partial paralysis.

After 3 hospitalisations, 12 MRIs, 3 misdiagnoses, several steroid courses, and innumerable tests and doctor encounters over six years, Sunita was finally diagnosed with neuromyelitis optica spectrum disorder (NMOSD) – a rare chronic relapsing autoimmune disease characterized by acute inflammation of the spinal cord and/or optic nerves.

She was prescribed rituximab – an expensive monoclonal antibody also used in chemotherapy. She would need 3-4 infusions per year, probably lifelong, each dose costing about Rs 40,000. Her first claim under her company health insurance was rejected because of a policy clause excluding monoclonal antibody treatment.

Sunita feels hopeless.

And she’s not alone.

A 2021 study estimates¹ NMOSD to affect up to 5 in every 100,000 people globally: that’s potentially 70,000 people in India.

There are about 7000 rare diseases listed in the global medical literature², affecting about 300 million people worldwide³. While India lacks a standard definition for rare diseases and official epidemiological data, over 70 million people in India are estimated to live with a rare disease⁴, about 50 per cent of these since birth.

Rare diseases can take years to diagnose because of many factors, including insufficient research data, awareness, and diagnostic facilities. Even with an accurate diagnosis, 95 per cent of rare diseases don’t have any approved treatment⁵.

To make matters worse, no Indian domestic manufacturer currently produces rare disease drugs, so even when functional symptomatic and maintenance treatments are available, they are often unaffordable.

In March 2021, the Indian Government Ministry of Health provided patients a ray of hope by issuing the National Policy for Rare Diseases⁶ (NPRD) 2021, which entitles rare disease patients below the poverty line (or up to 40 per cent other patients) to receive Central Government funding of up to 50 lakhs per patient under the Rashtriya Arogya Nidhi scheme⁷, with provisions for additional donations via a digital crowdfunding platform.

According to a recent press release⁸ from the Ministry of Health, 120 rare disease patients have received financial assistance under the NPRD. This is certainly a heartening development and the direct result of years of concerted efforts by patient advocacy groups.

But consider the number 120 in the backdrop of an estimated 70 million!

While the NPRD 2021 aims to be holistic in its recommendations regarding prevention and control, awareness raising, training and capacity building, and financial support, a large number of rare diseases like NMOSD are not mentioned in the policy⁹.

In fact, of about 450 rare diseases recorded by tertiary care centres in India¹⁰, the NPRD lists only about 50, and funding is reserved for patients treated in 11 assigned Centres of Excellence (CoEs) across the country.

In the absence of clear guidelines for fund disbursement, or for patients in primary care centres to be referred upwards to the handful of CoEs, where should millions of patients like Sunita turn?

This Rare Disease Day, may the silent appeal of millions of unseen rare patients reach the powers that be:

• Expand the NPRD to include all documented rare diseases.
• Increase recognised CoEs to adequately represent all Indian states.
• Expand eligibility criteria to cover more patients.
• Establish channels for patients to be referred from primary care centres to CoEs.
• Provide transparent reporting of fund allocation and utilization.
• Regularly review the policy and guidelines to ensure greater inclusivity.

The nature of rare diseases makes a one-size-fits-all approach impossible. But with a more inclusive NPRD, one size may fit many.

 

*Clarinda Cerejo is an NMOSD patient and the India Ambassador for The Sumaira Foundation and a DakshamA Health Patient advocate. Clarinda is a Stanford-Certified Design Thinker and serves as a Consultant to the World Health Organization and various patient-centric organizations. She is passionate about bringing the voice of patients into healthcare policymaking.

References

1. https://neurologyindia.com/article.asp?issn=0028-3886;year=2022;volume=70;issue=5;spage=1771;epage=1779;aulast=Pandit;type=3
2. https://jgu.s3.ap-south-1.amazonaws.com/jsgp/A+Review+on+National+Policy+for+Rare+Diseases+-JJPP-Volume-6-Issue-I.pdf
3. https://download2.rarediseaseday.org/2021/infopack2021.pdfhttps://download2.rarediseaseday.org/2021/infopack2021.pdf
4. https://macdonaldlaurier.ca/rare-diseases-india-blind-spot/
5. https://jgu.s3.ap-south-1.amazonaws.com/jsgp/A+Review+on+National+Policy+for+Rare+Diseases+-JJPP-Volume-6-Issue-I.pdf
6. https://www.thelancet.com/journals/landia/article/PIIS2213-8587(19)30006-3/fulltext
7. https://main.mohfw.gov.in/sites/default/files/Final%20NPRD%2C%202021.pdf
8. https://www.rarediseases.in/blog/big-relief-union-health-ministry-hikes-financial-grant-for-rare-disease-treatment-from-rs-20-lakh-to-rs-50-lakh-applies-to-all-categories/
9. https://pib.gov.in/PressReleasePage.aspx?PRID=1896037
10. https://jgu.s3.ap-south-1.amazonaws.com/jsgp/A+Review+on+National+Policy+for+Rare+Diseases+-JJPP-Volume-6-Issue-I.pdf