Know what diseases fall under Rare Diseases category

What diseases fall under Rare Diseases category? What is the benchmark for categorising diseases as Rare?

As the name suggest Rare Diseases are those that are less in occurrence than compared to other diseases in any country. Globally there are around 7000 plus Rare Diseases. In general, Rare Diseases are categorized into treatable and non-treatable. Most Rare Diseases are Serious, Chronic and Progressive in nature. There are myriads of debilitating and life-threatening Rare Conditions. We will list a few for the purpose of perspective. For e.g., there is Pompe Disease which affects the respiratory system immediately. In DMD, patients start losing mobility after a certain age. In Cystic Fibrosis, patients face continuous respiratory issues while being immune-compromised.  There is Haemophilia, Thalassemia, etc. where the patient has to be always dependant on blood factors.

There are life-threatening conditions in LSDs like Gaucher, MPS, where the patient could die if left untreated. There are certain conditions like IEMs (Inborn Errors of Metabolism) where if new-born screening is not done, formulated dietary intervention doesn’t happen at an earlier stage; due to which the child could go into mental retardation.

Most of the countries have their own definition like
-WHO  6-8% or 1 or less per 1000, US – Less than 2 Lakh patients, EU- 5 in 10000 people, Japan – less than 50k Patients.

In India, we are yet to arrive at a proper definition. However, as per the Clinical Trial Rules 2018, the definition of Orphan Drug under Rule 2(1)(x) states that-

“Orphan Drug means a drug intended to treat a condition which affects less than 5 (five) lakh persons in India”. In India we do not have clear definition. Recently Ministry of Health and Family welfare (Dept of MoHFW), -19th March 2019 states that an “Orphan Drug means a drug intended to treat a condition which affects not more than five lakh persons in India”. Based on WHO estimation, the Rare Disease burden of India can be well estimated to be 70 million patients in India. However, as per ICMR website it is a disease that affects 1 in 2500 people.

The Ministry of Health and Family welfare declared that 450 diseases are identified in India. But this list is still not available publically.

How is India coping with rare diseases?

Currently, there are no hospitals in India that provide a full-fledged holistic treatment for Rare Disease patients. However, we do have few centres in which genetic consultants are available, this is where the focus on diagnostic aspects and patient care is present; other conditions are being diagnosed by super speciality hospitals based on symptoms and the organ involved, few conditions are being also identified by Neurologists, Gastroenterologists, Orthopaedics, and Rheumatologist Experts. There are a few Hospitals in India that have been listed recently in the NPRD draft. As per the list, Government has notified 8 centres for the care of Rare Diseases. However, these are not sufficient; most of them are in Northern parts of India, and do not support pan India. Considering the vast population of India, these centres are extremely sparse for the care of Rare Disease patients. We need minimum 1 centre per state to start with.
In Karnataka, ORDI has established a Rare Disease Care Coordination Centre which is basically a Holistic Daycare centre for Rare Disease patients taking treatment such as ERT.  This is one of the first and only such care centre for Rare Diseases in the country.

What can be done in our country to increase awareness about rare diseases and their treatment?

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.

The Government has to recognise the challenges of the Rare disease community; they should start mass awareness campaign to reach out across India, especially in rural areas. Also, awareness messages from the Government to prevent consanguineous marriages, educate on the social stigma and superstitious beliefs can be of great benefit.
If all the concerned stakeholders come together to voice out for these challenges, Rare becomes Many; thus, the impact of their unity will be larger.

Early and Accurate Diagnosis through New-born Screening and Prenatal Tests, Guidance through Genetic Counselling in Pregnancy planning for families with history of Rare Disorders, and early interventions for debilitating conditions like DMD to prevent muscle loss are some examples through which we can bring down the burden of Rare Diseases.
Organization for Rare Diseases India, with the vision to make life better for the Rare Disease Community conducts several activities such as Hospital Screening Camps, Social Media Awareness Drives for Individual Rare Diseases and Educational Webinars such as Care for Rare Webinar Series and SIAMG-ORDI Webinar Series.

We are still far behind, when it comes to awareness on Rare Diseases, but the good side is that we are trying- and the day isn’t far away when Rare is no more Rare. Better awareness leads to a faster diagnosis of the disease, better treatment options, and comparatively early interventions.

What do you aim to achieve with Race for 7?

Racefor7, held by Organization for Rare Diseases, India is a Mega Awareness event held annually in February during International Rare Disease Day, that is the last day of February, typically on 28th February.

Racefor7 symbolically represents 7000 Rare Diseases and the average number of 7 years it takes to diagnose a Rare Disease; it a unique event for Rare Diseases that essentially signifies 7000 people running/walking/cycling for 7 kilometres. The idea behind this multi-city run/walk is to raise awareness of Rare Disease patients in India. Last year, the fifth edition was conducted across 14 cities in India. This is our 6th consecutive year; due to the pandemic situation, thanks to the virtual platform, we had 4000 plus participants coming from around 200 Indian Cities.

Bringing out a change in the Scenario of the Indian Rare Disease Community is certainly not a one-day task. We need to increase our efforts to show that ‘Rare isn’t Scarce, Rare isn’t Infrequent, Rare isn’t Remote’ and the idea of Racefor7 reaching out globally is to show policymakers that rare is not as rare as we think. We have seen the positive impact of Race for 7 through these years in raising awareness about rare diseases but more needs to be done.

What’s more promising is that today’s youth have immense courage and confidence to speak openly about their conditions. They are breaking the social barriers, fighting against stigma, and working hard to “positively” promote awareness.

There is enormous Hope in Progressive India, and events like Racefor7 are just a precursor for the fight in Rare Diseases.

How is govt supporting people with rare diseases?

Like mentioned earlier, Rare Diseases are either treatable or non- treatable.  For Treatable conditions, currently in India, there are no healthcare facilities available in India for Rare Diseases; neither do we have options available for treatment of Rare Diseases. Only in the state of Karnataka, treatment is being given for Lysosomal Storage Disorders (LSD), and PID (Primary Immunodeficiency) based on the high court interim order which. In some cases, with the help of Judiciary interventions, the beneficiaries of Employee State Insurance (ESI) diagnosed with LSD are also getting treatment.

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. ; however, this scheme is applicable only for BPL Families.
In India, the access to funds for common people impacted by Rare Diseases is Nil. Also, we do not have government facilities for treatment of Rare Diseases.

The challenges faced in getting the right treatment are many- the major challenge is the exorbitantly priced drugs which are unaffordable by even a well to do family, let alone a common Indian family. Access to treatment is another challenge as most drugs are available only in International countries and not available locally.

However, the bright side is that Government has certainly made great progress while lending its ears to the problems of Rare Disease community. In comparison, we are one of the countries that has made fast progress after issues of Rare Diseases started cropping in the Frontline.

On July 2017 the First Rare Disease Policy Draft -NPTRD was released. This draft on Dec 2018 was kept under abeyance. Again, on 13th Jan 2020, the NPTRD was delayed due to COVID19 pandemic; we are expecting a draft soon by 31st March 2021 as per the Government of India