Rare Diseases: All About Treatment, Challenges, And Why Should India Take Them Seriously

More than 7000 rare diseases have been identified globally out of which 450 have been reported in India with only 5% of them having identified treatments.

New Delhi: Being the second largest populated country in the world, India comes with a huge baggage of diseases that pose an overall threat to the country’s health sector. Apart from the common diseases that affect the majority of the population, there are some severely rare diseases that often pose unique challenges before society and healthcare systems. Did you know, according to experts, more than 7000 rare diseases have been identified globally out of which 450 have been reported in India with only 5% of them having identified treatments?

What Are Rare Diseases?

Rare diseases, by definition, are those that do not affect the majority of the population. Speaking at the Global conference in association with Niti Aayog, Dr. Laxmikant Palo, CEO, People to People Health Foundation (PPHF), said, “Rare diseases are a class of diseases which are not prevalent in every second or third house, which explains the unawareness around the issue amongst the general population. But what is alarming is that this unawareness prevails amongst the many healthcare professionals too which roots deep into the medical training they get. This further increases the complexities of the disease for the patients.”

Some Of The Most Common Rare Diseases In India Are:

• Haemophilia
• Thalassemia
• Sickle Cell Anemia
• Pompe’s Disease
• Cystic Fibrosis

What Are The Challenges?

Rare diseases pose unique challenges before society and healthcare systems. This can be gauged from the fact that out of 7000 plus globally identified rare diseases, only five percent have treatments available in the country. In India, about 450 such conditions have been reported so far with approximately 80 per cent having a genetic origin where diagnosis still remains a challenge.

Considering the importance of addressing rare diseases for India’s healthy future, People to People Health Foundation (PPHF) facilitated a review process via Global Rare Disease Conference 2021 in February with support from Niti Aayog, Japan Embassy, and Takeda and multiple state governments.

Experts observed that 50 percent of new cases found in children are responsible for 35 percent of deaths before the age of 1 year, 10 percent between the ages of 1 and 5 years and 12 percent between 5 and 15 years. “Many rare diseases have no initial symptoms but gradually these start to build upon and manifest in the form of delayed milestones in children, other deformities could be there. It really depends on disease to disease,” said Dr. Laxmikant Palo.

Meanwhile PPHF observed from patient stories that in most cases, diagnosis got delayed by 7 years or even more because of the lack of awareness about these diseases and the complexities including lack of in-house facility for various diagnostic tests due to which patients are referred to super-speciality hospitals outside the state.

The Rare Diseases In India Can Be Classified Into Three Categories

PPHF has clearly listed rare diseases recorded in India into three categories and most of the categories have treatment available ranging from one-time organ transplant to nutritional supplements for medical purpose to life-long enzyme replacement therapies treatment cost of which keeps increasing with the age and weight of the child. The draft has categorized diseases into three categories—

• Diseases for which definitive treatment is available, but challenges are to make optimal patient selection for the benefit, extremely high cost and lifelong therapy b)
• Rare diseases where treatment cost is very high, but literature shows positive outcomes on the life of patients and
• Diseases where treatment cost is one issue, but more than that data is either awaited or available for a low number of patients making standardization of inference and outcomes difficult.

“We understand the challenges posed by the unmet needs in diagnosing and managing rare diseases and closely engage with multiple stakeholders at every stage of the patients’ progress. Our vision is to ensure seamless access of our innovative therapies to patients and improve the standard of care through focused initiatives,” said Mahendra Nayak, Area Senior Vice-President, ICMEA, Takeda.

Why Should India Take Them Seriously?

As per the Ministry of Health and Family Welfare’s (MoHFW) estimates, the treatment cost of most genetic disorders may vary between INR 1.8 to 17 million. Considering such high costs, there is an urgent need for a plan for a sustainable funding mechanism in place to ensure sustained treatment to patients with rare diseases.

“There is unawareness amongst various other players who can play a key role in reducing the burden of rare diseases like the funders because they have not been approached by many health organizations to fund rare diseases. There is a need to create advocacy platforms, generate dialogues and collect wisdom for working collaboratively in the future creating awareness at all levels following an ecosystem approach,” said Dr Palo.