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On May 15 every year, those with arare disease called mucopolysaccharidoses (MPS) gather to create awareness about their condition. We inform you about this and other rare diseases that impact millions in India

IF YOU have seen Amitabh Bachchan in the Bollywood film Paa, you would know about the genetic disorder he was afflicted by, progeria, that causes children to age rapidly. Progeria is just one of the thousands of rare diseases affecting millions across the globe.

Defined as disorders with an incidence of less than one in 2,000 persons, today there are over 8,000 rare diseases in the world.

Some strike you at birth, as in Palak Kumar's case. Her parents noticed that her face appeared puffy and her head and eyes were larger than normal when she was just two years old. But it was no easy task to determine the cause. Endless doctor's consultations and numerous tests were required before the diagnosis of MPS ( Mucopolysaccharidoses) was made.

This is one of the rarest of the rare diseases, which leads to an abnormal storage of mucopolysaccharides, caused by the absence of a specific enzyme in the body. MPS diseases are a part of a larger group of disorders known as Lysosomal Storage Disorders ( LSDs), known to affect one in 5, 000 live births. There are more than 45 LSDs, caused by the deficiency of a specific enzyme in the body.

About 35 million people suffer from rare diseases in India. But there is hardly any formal data collection on them. " The absence of proper statistics on their exact numbers makes it difficult for doctors to assess the overall situation of rare diseases too," says Dr IC Verma, chairman, department of genetic medicine, Sir Gangaram hospital. Dealing with a rare disease is a big challenge right from diagnosis to treatment, that can cost upto ` 1 crore per year in some disorders. " From diagnosis to treatment, it's a difficult experience, and the lack of understanding about the disease makes it even tougher," says Jawaharlal, Palak's grandfather, who is one of the frontrunners in the LSD society here.


A DISEASE is termed rare if it affects less than one person in 2000. Most rare diseases have tongue twisting names like Pompe and Gaucher's. What requires special attention is a group of rare diseases called the lysosomal storage disorders.

The most common and treatable LSDs are Pompe, Fabry, Gaucher's, MPS 1, 2 and 7. Like other genetic diseases, individuals inherit LSDs from their parents.

All of us carry one or two faulty genes but when both parents are carriers of a faulty gene the chances of getting affected by LSD goes up. Therefore, a child who is born normal can develop symptoms with time. Symptoms of LSDs can be mild or severe and include developmental delay, movement disorders, seizures, dementia, deafness and blindness. Some cause enlarged livers and spleens, pulmonary and cardiac problems, and bones that grow abnormally. Rare diseases are called progressive diseases because as the person ages, the disorder increases in intensity, restricting movement, stunting growth and reducing life expectancy. But early diagnosis can help stabilise the problem.


DOCTORS feel that the situation for those with rare diseases has improved in terms of availability of treatment and diagnostic tests but early diagnosis is still far cry. " The primary child specialist or the doctor should be able to identify the symptoms and recommend the proper diagnostic test," says Dr Verma. But this doesn't occur as most doctors aren't aware about the symptoms of these diseases and end up misdiagnosing the problem.

" While more people are approaching us avail of diagnostic facilities, awareness still low. Such disorders are regarded as mental retardation even though not all of them impact the mind," says Dr Ratna Puri, consultant, department of genetics, Sir Gangaram hospital. It really is a Catch- 22 situation as the symptoms of LSDs develop slowly causing delayed diagnosis. Once the disease has progressed to a certain point, treatment cannot reverse it. When motor delays accompany symptoms of LSDs, the prognosis is worse. " The treatment has to be begun before the mental retardation sets it, as after that the changes become irreversible," says Dr Verma. Another concern for such families with rare diseases is to manage the huge costs of treatment for these diseases.


FAMILY has been visiting the hospital for her intravenous administration of enzyme replacement therapy, without fail, every Saturday since the last five years. The yearly cost for this lifelong treatment is ` 1 crore. " Palak is still lucky as her treatment costs are being borne by the enzyme company. But for those who have to pay from their own pockets, this treatment is simply unaffordable," feels Palak's grandfather. The typical treatment for rare diseases is the enzyme replacement therapy, where enzymes are introduced into the body to compensate for the deficiency. Medications are also bound to help in some cases.


feel that the only way to reduce the burden for families with members with rare diseases is to make prenatal testing mandatory for conditions like LSDs, Down's syndrome and hypothyroidism.

Pre- birth genetic counselling and DNA analysis test at the time of birth is advised. While predictive or preventative testing is possible, this is generally done only if there is history of a rare disease in a family.

A pregnant woman with a family history is advised to get a prenatal test called Chorionic Villus Biopsy done, but this may not be always feasible. " There are thousands of rare diseases which require different diagnostic facilities. It's not possible to test all pregnant women for rare diseases. If the first child or a relative suffers from a rare disease, we carry out specific tests and the couple can decide to abort the foetus," says Dr Verma. Even if tests are done, the possibility of error can never be eliminated. There are 25 per cent chances of a second child suffering from a rare disease if the first child already has it.

nalini. ravichandran@ mailtoday. in

Therapies that hold hope


Doctors say that stem cell therapy can be helpful for children with rare diseases.

" For example, if the mother of the patient opts for a second pregnancy, there are chances that the stem cells of the second child if born healthy can be used to save the life of the diseased child," says Dr Verma.


Successful mapping of the human genetic structure has led experts to believing that gene therapy holds the key to the perfect treatment of rare diseases, and developments in the field look promising. By reading the genetic makeup of a person, the fault lines can be determined.

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Publication:Mail Today (New Delhi, India)
Date:May 15, 2012
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