Fifteen-year-old Pakistani girl Saba Ahmed, who suffers from a rare genetic condition – Wilson's disease — has been admitted in Jaslok Hospital on Monday. According to treating doctors, Saba needs to be in the hospital for at least two months.
Karachi resident Saba is admitted under the care of Dr Aabha Nagral, consultant gastroenterologist and liver specialist at Jaslok Hospital and Research Centre.
Wilson disease is a genetic disorder where copper accumulates in tissues. This results in liver, neurological or psychiatric ailments. It is treated with medication which reduces copper absorption or removes excess copper from the body. However, a liver transplant may be needed in advanced cases.
Due to excess copper deposit, Saba was not able to walk without support or swallow anything. She has been accompanied by her mother Naziya.
Dr Nagral said, "We are planning some basic investigation tests. The main sites of copper accumulation are the liver and the brain; consequently, liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. Most patients also develop Kayser-Fleischer rings (KF rings) which are golden brown rings that appear to encircle the iris of the eye and are secondary to copper deposition. This patient needs lifelong medication and supportive treatment in the form of physiotherapy and speech therapy." Dr Nagral has already treated more than 150 children with such a disease.
"This girl is not responding to medicine available in the country; hence, we are importing the drugs from abroad. We will start Saba's medication in 4 days," Dr Nagral added.
According to the experts, in such patients if there is no timely intervention, the disease may be fatal. This disease has a prevalence of 1 in 30,000 population. There is lesser awareness in the medical fraternity about the disease, thereby often delaying its diagnosis.
The online crowd funding campaign 'Save Saba' has managed to collect 23% of the total fund required for her treatment. In April, the community spent close to Rs7 lakh for 45 days of her treatment at the hospital. This time around, she will be staying in the hospital for two months and for this the hospital has quoted Rs10 lakh for her treatment.
