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Have You Heard About These Rare Diseases and Their Treatments?

Pompe, haemophilia, sickle cell anaemia, cystic fibrosis and gaucher disease are some of the rare diseases affecting the Indian population.

  • 31 Mar 2020
  • 2 min read

While they affect only a small percentage of the population, treatment of rare diseases can burn a big hole in your pocket

Rare diseases refer to ailments that affect a small section of the population. Note that most rare diseases are genetic; hence, people diagnosed with these have to live with them throughout their lives. Since these ailments don’t affect a large section of the population, awareness regarding them is quite low.

India’s National Policy for Treatment for Rare Diseases in 2017 estimated approximately 6,000 [1] to 8,000 rare diseases with 450 [2] of them recorded in India. In this article, we will tell you about some of the rare ailments and their treatment.


A rare neuromuscular disorder, the disease is inherited by a defective gene from parents. A progressive ailment which gets worse with time, the disease causes loss of muscle tissue and muscle weakness. It also results in difficulty in breathing and frequent respiratory infections such as pneumonia and bronchitis.

Enzyme replacement therapy is one of the possible treatments for Pompe, while gene and stem cell therapies are under development. The cost of treating the ailment is pretty high and can easily upwards of Rs. 35 lakhs. Also, there’s a need for supportive care like physiotherapy along with monthly medicines, which can further augment costs.


This is another rare disease, which prevents the normal clotting of blood because of insufficient blood clotting proteins. People suffering from this disorder bleed for a longer time, post an injury than others would.

The symptoms include unusual bleeding post-vaccination, nosebleeds without any reason, deep bruises, and pain and swelling in joints. The primary treatment of this rare disease includes replacement of special clotting factor, to be administered regularly to prevent excessive bleeding.

Clot-preserving medications which prevent the clot from breaking down can also be administered. The cost of replacement therapy can run upwards of Rs. 2 lakhs as per the level of severity of the disease.

Sickle Cell Anaemia

It’s an inherited red blood disorder, where there aren’t enough healthy red blood cells (RBCs) that carry oxygen. In this, the RBCs are like sickles and get stuck in the blood vessels, thus blocking blood flow and oxygen throughout the body.

There’s no specific cure for sickle cell anaemia, and most treatments are geared to relieve pain and prevent complications associated with the ailment. In some cases, doctors may administer blood transfusion and bone marrow transplant. Bone marrow transplant is extremely expensive and can cost upwards of Rs. 16 lakhs.

Cystic Fibrosis

An inherited disorder, cystic fibrosis causes severe damage to lungs, digestive system along with other organs. The disease impacts the cells which produce digestive juices, sweat and mucus. The symptoms of the disease include repeated lung infection, persistent cough producing thick mucus and inflamed nasal passages, among others. Chronic constipation is also one of the signs of the disease.

Treatment includes controlling infections occurring in lungs, preventing intestinal blockage and having adequate nutrition. Apart from these, airways clearance techniques to keep sinuses and airways clean also go a long way in providing relief to patients suffering from the ailment.

Gaucher Disease

This ailment is caused due to the build-up of certain fatty substances in organs such as liver and spleen. This causes them to bulge and affect their performance. The fatty substance can also build up in bone tissue and weakening it in the process. If the bone marrow is affected, then it can interfere in the blood’s ability to clot.

Abdominal complaints, blood disorders and skeletal abnormalities are some of the symptoms of this disease. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are two treatment options available for Gaucher disease. ERT therapy can cost upwards of Rs. 40 lakhs a year.


Haemangioma is a bright red birthmark which shows up at birth or during the first and second week of life. Appearing as a rubbery bump, it is made up of extra blood vessels in the skin. Though it can occur anywhere in the body, most commonly it appears on scalp, chest, face or back.

While a baby’s haemangioma fades with time, treatment is required if it interferes in breathing, seeing or other functions. Treatment includes laser therapy or medications.

In conclusion

While the severity and symptoms of rare diseases may vary, the cost of treatment is extremely high, which can significantly dry up your savings. In such a scenario, a health insurance plan can come to your rescue and prevent out-of-pocket expenditure.

In other words, a comprehensive health plan can fortify your finances from taking a dip during treatment of any of the above-mentioned rare diseases.


Data sources: [1][2]

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