Have you heard about ‘Gaucher?’ Here is all that you need to know about this rare disease

It is a genetic condition wherein waste material gets deposited and builds up in different organs and bones of the body.

By: Debjani Arora | | Published: August 18, 2018 5:24 pm

NSML affect males and females in equal numbers.

Rare diseases by definition are those which affect only a small number of people. They are chronic and progressive and have major impact on the quality of life of patients suffering from it. They lead to a wide range of physical and emotional limitations impacting their daily activity. One such rare disease is Gaucher. It is a genetic condition wherein waste material gets deposited and builds up in different organs and bones of the body. People with Gaucher’s disease lack an important enzyme which breaks down a specific type of fat molecule, thus, increasing the accumulation of fat in the cells which is then manifested in the form of various symptoms like enlargement of spleen, fatigue, bone and joint pain, anaemia etc. Also Read - Genes linked to common brain disorder, Chiari 1 malformation, identified

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We are now talking about a disease that gripped a family and snatched their peace of mind as the parents had to see their son suffer from this rare condition. Pranav was born in June 2001, when he was 1.5 years old he had difficulty eating and digesting his food. He was unable to eat food properly in too much quantity. This condition troubled his parents which resulted them visiting hospitals for his check-up. During their visit in Coimbatore hospital their trouble and worry had doubled as they got the news that Pranav was suffering from a rare disease for which the medicine was unavailable in India. Also Read - Kids who take steroids at increased risk for diabetes: Know the other side effects of this medication

Understanding the seriousness of Pranav’s condition, his parents took him to Vellore for second opinion where they were informed that Pranav must undergo bone marrow transplant which costs around Rs 10 lakhs during that time. Since his parents could not afford the transplant, they did not opt for it and started giving Pranav alternative medicines (Ayurvedic medicines). However, when they were planning a second child, they had visited Dr Sujata Jagadeesh, a Geneticist, who suggested them to first focus on Pranav’s treatment. During that time, Dr Ashok Vellodi a Paediatrician by profession and an active social worker on lysosomal storage disorders was also in Chennai for a consultation visit and Dr Jagadeesh had discussed Pranav’s case with him. He made Pranav undergo certain blood tests which were sent to Sir Ganga Ram Hospital in Delhi. The results of the blood tests revealed that he was suffering from Gaucher.

Living with Gaucher

A new ray of hope brightened the life of Pranav as Enzyme Replacement Therapy (ERT) was the treatment which could save him from the disease- Gaucher. He wasselected under the Compassionate Access Program for treatment and his treatment was started in 2005.

Since then, the treatment has helped Pranav immensely. His earlier symptoms like frequent fractures, acute joint and bone pains have now vanished; resulting in increased bone strength which makes him ride his bicycle every day to school. He undergoes therapy once in every 14 days and is leading a very normal life. He likes cricket and games like chess and carom and is also a member of the Junior Red Cross. He likes doing Yoga and has even won various prizes for the same. Today, Pranav also has a sibling who is perfectly normal.

Pranav is a clear example of how treatment can change the life of a patient. Thus, it is important for our government to acknowledge these rare diseases and make the treatment affordable and accessible so that more children like Pranav, who are still suffering from such rare diseases, can lead a normal and healthy life.

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Published : August 18, 2018 5:24 pm

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