02 July 2010
By Sumitra Deb Roy
Mumbai, India
The Rawat sisters, Ranjini (15) and Rupin (12) from Dadar (name changed), may pass off as normal teenagers until one learns that the siblings are fighting an uncommon genetic disorder with no outward symptoms but great chances of disability and death. Both suffer from Gaucher Disease, whose diagnosis till date remains as difficult as the astonishing cost of drugs not available in India.
The problem started when Rupin, now studying in Std VII, was all of four years. Her recurrent complaints of stomachache were treated with some medication until her enlarged spleen caught a doctor’s attention. However, this time too, it was mistaken to be malaria and treated with anti–malarial drugs.
With no noticeable health indications, the parents were at their wits’ end as to why Rupin hardly gained any weight for the next five years. Neither the parents nor the child could feel that there was a gradual enlargement of the abdomen. By the time she was 10 years old, her spleen–that should not be more than 11 cm–was huge and had filled up the entire abdomen. She was also severely anaemic.
The baffled parents finally found an answer in November 2008, seven years after she had shown first symptoms of Gaucher Disease. The disease is an inherited disorder in which too much of a fatty substance called glucocerebroside builds up in spleen, liver, lungs, bones and prevent these organs from working properly.
“In India, it is mistaken to be some form of blood disorder most of the times,” said Dr Mamta Muranjan, consultant clinical geneticist at the PD Hinduja National Hospital.
In the case of the Rawat sisters, the younger one was first diagnosed to be suffering from the disorder. And, only after that did the doctors suspect that even her elder sister Ranjini, who has shunted growth and low platelet count, should be tested for the disease. Recently, Ranjini was also diagnosed with the same genetic condition. “Both of them get exhausted very soon,” said their father, who did not wish to be identified.
Apart from diagnosis, even the treatment of Gaucher Disease would have been out of bounds for the Rawats if not for an international charity institution. Both of them need a drug to be administered intravenously over one hour every fortnight. The drug costs Rs 1 crore annually for both the sisters. “The therapy has to be continued lifelong, so it would have been impossible to sustain their treatment without help,” said the father.
The drug needs to be imported with a special licence from the Drug Controller of India in New Delhi. Dr Muranjan, also an associate professor at the KEM Hospital, said that bone marrow examination and subsequent DNA test could only confirm the condition.
What is Gaucher Disease?
- It is a rare inherited disorder that affects multiple organs and tissues
- It is believed to have affected less than 15,000 people worldwide
- Risk of transmission by carrier parents is 25% for every pregnancy
- Prenatal diagnosis can be offered in affected families
- Surgery to remove the spleen can be avoided by treatment
The Rawat sisters, Ranjini (15) and Rupin (12), have been diagnosed with Gaucher Disease. Both of them need a drug to be administered intravenously over one hour every fortnight. The drug costs Rs 1 crore annually for both the sisters
In India, it is mostly mistaken to be some form of blood disorder. The initial diagnosis is difficult due to wide variability in symptoms
Dr Mamta Muranjan | CONSULTANT CLINICAL GENETICIST AT THE PD HINDUJA NATIONAL HOSPITAL
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