Rare diseases: No longer rare

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Rare diseases: No longer rare

Sunday, 12 March 2023 | Archana Jyoti

Rare diseases: No longer rare

Like in many countries, in India too patients with rare diseases are struggling for equitable access to diagnosis, healthcare, social care and opportunity all through their life. Stigma and lack of awareness about the disease, even among health providers, just add to their agony. Though the Government framed the much-awaited Rare Disease National Policy 2021, many gaps remain to be plugged, patients and experts tell Archana Jyoti

On Sunday ie March 12, 2023, Organization for Rare Diseases India (ORDI),a not-for-profit  organization, is organizing a RaceFor7 event at the AIIMS, Delhi. It is a 7-km walk/run/cycle symbolising 7,000 known rare diseases, the average of 7 years it takes to diagnose a rare disease and the 70 million estimated rare disease patients in India.

 "The aim is to  create awareness, sensitizing the government agencies as well as the industry and NGOs, to bring them together to work for the sector besieged with umpteen challenges," says Co-founder and Executive Director of ORDI, Prasanna Kumar Shirol.

Rare diseases currently affect 5% of the World’s population. Around 72% of the rare diseases are genetic in nature, while others are due to bacterial or viral infections, allergies, environmental causes or rare cancers. Since, 70% of genetic rare diseases start in childhood, survival rate is less in view of lack of timely diagnosis and treatment.

There are an estimated 200 rare cancers and 1 in 5 cancers is rare. The WHO defines rare diseases as those debilitating lifelong diseases that have a prevalence of 1 or less per 1000 population. The most commonly reported among these disorders are hemophilias, thalassemia, sickle cell anaemias, primary immunodeficiencies, lysosomal storage diseases, cystic fibrosis, muscular dystrophies, small molecule diseases, skeletal dysplasias etc.

Most of the 7000 rare diseases can be grouped under Rare Autoimmune Disorders, Rare Blood Diseases, Rare Bacterial Infections, Rare Heart Diseases, Rare Neurological Disorders, Rare Cancers, Rare Musculoskeletal Diseases, Rare Genetic Disorders, Rare Connective Tissue Disorders, Rare Newborn Diseases and several more.

Shirol laments that, “despite diagnostic technological advancements in various disorders, awareness of these conditions at the grassroots level is still required for timely referral, which can facilitate early diagnosis and timely initiation of therapy which is available for a few but evolving very rapidly.”

Prof. Ramaiah Muthyala, President & CEO of the Indian Organization for Rare Diseases (IORD) is not very happy with the national policy, calling it inadequate to serve the needs of rare disease patients. It is drafted by borrowing the US definition of rare diseases, he says.

“To have a definition suitable to our country, one must know the prevalence or count of rare disease patients in India.” Though the ICMR has started the registry for the patients, it will take its own time before the process starts yielding beneifits to the overwhelmed families.

Doing its bit in the direction, the IORD has started a pilot project in collaboration with the Telangana Government to make an approximate count of rare disease patients. Accredited Social Health Activist (ASHA) workers have been roped-in to do the job.

 “They have first-hand knowledge related to individual health-related matters. Preliminary results are very encouraging and received worldwide attention. They evinced keen interest to adopt similar approaches to determine the prevalence of rare diseases,” Muthyala explains.

Samir Sethi, Chairman of the ORDI Advocacy Committee and President Indian Rett Syndrome Foundation strongly feels that indigenous drug development for the rare diseases can somewhat help in readdressing the issue in drug availability.

“The Policy states that pharmaceutical industries would be encouraged to develop drugs for rare diseases. The Pharmaceuticals Department will be roped in to create a conducive policy framework for domestic pharmaceutical companies to focus on the research development and manufacturing of indigenous drugs for curing rare diseases”, he says.

Muthyala points out that, generic orphan drugs, about 350 APIs are manufactured by Indian pharma and all are being exported. "They are formulated elsewhere and come back into India at an exorbitant price and import license requirement. As a result, none of them is easily accessible for Indian rare disease patients,” he notes. Though the Government has recently released around Rs 22 crore for treatment of 134 patients with rare diseases, it is not enough, the experts rue.

Dr Neerja Gupta, Additional Professor, division of genetics, department of pediatrics, AIIMS,  Delhi talks about how even though CoEs have been set up, teething problems remain. For instance, “patients still don't know where to go...they always first come to OPD and from there, they are directed to go CoEs but there still exist gaps.  For instance, patients still don't know where to go...they always first come to OPD and from there, they are directed to go for the nearest centre of excellence.

“The current financial benefit is solving the problem, but not for all. Majority of the patients are on supportive management for rare diseases and the costs of the drugs are quite high as they need to be procured from abroad," she added.

Take the case of Ayushmaan (24) and Abhimanyu (22) who suffer from Cystic Fibrosis, a life-limiting genetic condition where mucus clogs up the airways. They shared that their families are doling out huge money for their drugs and supporting treatment management. “Although some rare diseases are covered under some health insurance, there is a long waiting period. Also, we are covered under the PWD Act that can ensure jobs for us,” they say, underlining that they too can lead a better life if given necessitated support.

However, forget about the  treatment, even the diagnosis of such diseases are not timely leading to increased sufferings of the patient. In case the treatment is available, it is very expensive. For example, the treatment of Gaucher Disease can easily go beyond Rs 40 lakh. Similarly, the treatment of Pompe can cost more than Rs 35 lakh.

Moreover, rare diseases are mostly chronic in nature. Thus, their treatment will go on for a long time, which means a lot of money.

Moreover, patients may be required to go through regular diagnostic tests and put on medications for a long time. Since very few pharmaceutical firms across the world manufacture drugs for the treatment of rare diseases, they are highly expensive. This is the reason why rare diseases are also known as ‘orphan diseases’ and the drugs used in their treatment are referred to as ‘orphan drugs’.

Abhimanyu says that till now supportive treatment management is being covered under the CGHS card of his father, a government employee. But once I attain a certain age as per the government criteria, I will be out of that support net, he reveals, worried about his future. 

There is a lack of awareness about rare diseases in the general public as well as in the medical fraternity. Many doctors lack appropriate training and awareness to be able to correctly and timely diagnose and treat these conditions.

In addition, two to three misdiagnoses are typical before arriving at a final diagnosis. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially. Even when suspected, the facilities and expertise for diagnosis and management are available only in very few centers in the country, doctors say.

India is home to around 5-10 crore patients with rare diseases. But many die in want of timely diagnosis and treatment. The number of patients in the country could be more than what has been estimated as many children die without proper diagnosis and treatment for rare genetic disorders, says Dr Mayank Nilay, Assistant Professor of medical genetics at medical genetics department at Post Graduate Institute of Child Health PGICH, Noida, Uttar Pradesh.

“Nearly 30% of rare disease patients in the country die before five years of age,” he notes and adds that lifestyle changes, late marriage and environmental modifications can also lead to such rare disorders. Prenatal testing of couples can help analyse chances for such rare diseases and avoid them.

“Early diagnosis and treatment leads to better outcomes for these patients. Sadly, due to lack of awareness among physicians and the masses, diagnosis is often delayed in our country, leading to irreversible losses. Screening of newborn children and couples for such rare disorders is very important,” Dr Nilay adds.

Sarika Modi from IEM (inborn errors of metabolism) Support Charitable Trust spoke about how 18 per cent GST and the 100 per cent custom duties levied on life saving food and medicines are unnecessarily adding to the woes of the affected families of patients with IEMs. IEMs also known as congenital metabolic diseases or inherited metabolic disorders are rare genetic (inherited) disorders in which the body cannot properly turn food into energy.

Modern therapies for rare diseases, including gene editing, gene therapy, ASOs, RNAi, mRNA, and ERT are highly promising but unaffordable and inaccessible to the patient community. Although a small percentage of rare disease patients need expensive drugs, others can be managed by alternate therapies such as diet, medical foods, AYUSH, social support, and medical devices, which improves the quality of life,” Muthyala sums up.


Providing Ray of Hope...

  • The Centre has 11 designated Center of Excellence (CoEs) for treating rare diseases in the country. These are  Kerala’s Sree Avittam Thirunal Hospital (SAT) hospital, Government Medical College, Thiruvananthapuram, AIIMS, Delhi, Maulana Azad Medical College (MAMC), Delhi, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh & Center for DNA Fingerprinting & Diagnostics, Hyderabad. The other five include King Edward (VII) Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, Institute of Post Graduate Medical Education and Research, Calcutta, Centre for Human Genetics (CHG), Bangalore, All India Institute of Medical Sciences, Jodhpur and the Institute of Child Health, Egmore, Chennai.


  •  Started last December with less than 10 patients, the medical genetics department at Post Graduate Institute of Child Health (PGICH), Noida is now treating over 1,600 children with rare genetic diseases. PGICH is one of the ICMR collaborating centers for the National Rare Disease registry.


  •  The Department of Biotechnology, under Union Ministry of Science and Technoloy has set up Nidan Kendras under the Unique Methods of Management and Treatment of Inherited Disorders (UMMID) project for genetic testing and counselling services. These Nidan Kendras perform screening, genetic testing and counselling for rare diseases.


  • Recently, the Karnataka Government launched a research and training unit for rare diseases.

    It will strengthen diagnosis, counselling and treatment, including developing the service facility for prenatal diagnosis for early identification of genetic disorders in pregnancy, genetic counselling facilities for around 2,500 families with rare disorders, to be evaluated annually.

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