World Rare Diseases Day

Three years ago, when Ankush Mhaske was not even in his teens, he was forced to drop out of school for a year after being down with a disease which no one had any idea about. Doctors were clueless. After one and-a-half year of investigations, doctors came to the conclusion it was the Wilson disease, a rare malady that results in development of liver cirrhosis.

Today, the 14-year-old is leading a normal life though he is undergoing treatment. It was specialists in Jaslok Hospital who treated him. He is now in seventh standard; he should have been in eighth.

Wilson disease is a genetic disorder—copper accumulates in tissues which results in liver cirrhosis, neurological or psychiatric symptoms. It is treated with medications that reduce copper absorption or remove the excess copper from the body. However, in advanced cases, liver transplant may be required.

According to experts, in such cases, if there is no timely intervention, the disease could prove fatal. One in 30,000 is likely to get this disease. Its danger lies in not being diagnosed in time as many in the medical fraternity is not aware of its existence.

There are more than 100 children with Wilson disease undergoing treatment at the paediatric hepatology and neurology departments in Jaslok.

"We were not aware that Ankush had Wilson disease till he was 10. There were swellings on his body, mainly on legs and stomach. His physical condition kept deteriorating. Our local doctor, after much investigation, told me he may not live much longer," said Amar Mhaske, Ankush's father.

"He is our only son and for his treatment we were ready to sacrifice anything. We spent lakhs of rupees before it was diagnosed that he had Wilson disease. It was through one of the doctors that we finally met Dr Aabha Nagral, consultant gastroenterologist and liver specialist, at Jaslok Hospital and Research Centre. Ankush has been under her treatment since 2012.

Dr Nagral said: "In 2012, after he was brought to me, we found Ankush had developed liver cirrhosis and had low blood counts on account of the enlarged spleen. We put him on medication with strict low copper diet. Within a year, his liver function showed remarkable improvement. He now goes to school, but has to continue medication."

Once a patient is diagnosed with the disease, he/she needs special care. The problem is physicians fail to diagnose the disease, and refer to us only after they have tried everything," she added.

Wilson disease
The disease occurs because copper gets accumulated mainly in the liver and brain. Liver disease and neuropsychiatric symptoms are the main features of the disease. Most patients also develop Kayser-Fleischer rings (KF rings), which are golden brown rings, around the iris of the eye and are secondary to copper deposition. A patient would need lifelong medication and supportive treatment in the form of physiotherapy and speech therapy. The average cost of treatment is around Rs 3,000-4,000 a month. If diagnosed in time and treated properly, liver transplant can be avoided even in patients with cirrhosis, says Dr Aabha Nagral.

Children Liver Foundation (www.childrenliverindia.org) hold support group meetings and offers help to patients with Wilson disease.