Four-year-old Atharva Sangle has a disease that is not only rare, but also costly to treat. Thane-based Atharva has the rare Gaucher's disease, a life-threatening condition that is treatable at the cost of Rs30 lakh per year.

February 28 is World Rare Disease Day.

His symptomsWhen Atharva was one year old, his spleen and liver became enlarged and he developed a squint. He also suffered from a bloated stomach, continuous bruising, fatigue, seizures and severe swelling since birth. After being diagnosed with Gaucher's disease, his parents immediately began the treatment which involved visiting hospital every fortnight for medicine transfusion through saline drip.

A poor familyHis mother Kavita Sangle works as a constable attached with the Thane police, and her husband is a driver with Brihanmumbai Electric Supply and Transport (BEST) undertaking. The duo live in their police quarters in Thane with Atharva and their six-year-old daughter Sanika. For them it is an impossible task to raise Rs 30 lakh per year.

Fortunately, the cost of treatment for the past three years has been met by the state police department.

Responding to medicineAtharva is being treated by Dr Abha Nagral at Fortis hospital in Mulund. "This is the third year's treatment, and we have found tremendous development in Atharva's health. He has done very well on enzyme therapy. He is walking, talking and has a good appetite. His large protruding tummy is back to near-normal size. Earlier, he was not able to stand, forget walking and because of huge distension of his tummy from the enlarged liver and spleen, would hardly eat anything as he would feel full all the time. As a result of which his immunity was low and he would be down with repeated infections," said Dr Nagral, consultant gastroenterologist and hepatologist.

Lifelong treatmentShe added, "The treatment he is getting is intravenous infusions every 15 days of the enzyme which is deficient in the body. He needs lifelong treatment as the moment he stops the treatment, the blood counts will become low and the liver and spleen will start enlarging again because of deposition of abnormal fat in these organs. He had severe anaemia and low platelets which are back to normal now. Lots of clinical trials are being made on drugs (for this disease), and in future he may be shifted to medicines instead of intravenous infusions. The drugs may become cheaper."

Kavita Sangle, Atharva's mother, said, "After we started the treatment, I found that my child is responding well to it. He looks normal now, I have almost forgotten he has this grave disease. All the credit goes to the police department, which has stood by me and funded my son's treatment. I am hoping the police department will continue to offer us their support. I will always be grateful to them for helping my son."

Gaucher's disease is a genetic disease in which excess fat accumulates in cells and certain organs. There are three types of this disease- type one and three can be treated. The brain is involved in type two and there are fewer chances of getting relief from treatment, said Dr Abha Nagral. The treatment-related drugs come from the US and are administered to the patient through a saline drip. Patients must take treatment for at least 6-7 years.