Progeria patient undergoes treatment at JK Lon

16 jan 2010JAIPUR: An extreme case of genetic disorder has given four-year-old Ashish (name changed) the appearance of a middle-aged man. Ashish's is a case of progeria, a rare genetic condition where the patient shows accelerated ageing.

The boy from Jhunjhunu was admitted at JK Lon Hospital here after undergoing a paralytic attack a week ago. Doctors at the hospital diagnosed the child suffering from progeria that causes a patient's body grow three times faster than his actual age. He was discharged from the hospital on Friday. The rare genetic disorder is highlighted in a recently released movie 'Paa' in which Amitabh Bachchan has played the role of a progeria patient (Auro).
However, unlike in the movie, Ashish has not shown any significant growth in height, the disorder on the other hand is also expected to have affected the functionality of his nervous system as well. Even as doctors at the hospital confirmed of the disease, they were unable to describe the impact of the disorder over the patient.
"It's a rare case found in only one in eight million children. The child from Jhunjhunu was confirmed of the disease. However, his condition is stable now," says a doctor who attended the boy.
According to doctors, the process of ageing is expected to be caused by progeria protein called 'progerin' which is present also in human cells and tissue of non-progeria, ageing population. However, the activity of the protein is much higher among the progeria population.
The disease manifests at early age in most of the cases and at times delayed progeria is also noticed to have triggered during teenage in certain patients. As initial symptoms, the skin of the patient grows dull and aged in texture, additional conditions become apparent as the child usually around six months of age.
Even as the patients age faster, they show limited growth and often have a distinctive appearance. Most of the people with the condition have smaller and fragile bodies much similar to that of aged people. At advanced conditions, the patients' skin gets wrinkles and they also develop cardiovascular issues.
Ashish was admitted to the hospital on January 6, after one side of his body showed lack of activity. However, his family has been aware of his condition for long. The child had shown symptoms of the disease soon after his birth.
"We took him to all the nearby doctors and also tried other remedies but none of them worked. Doctors say that the treatment will continue," said the patient's grandfather Shivpal Singh.
Despite years of research, progeria remains an incurable disorder. However, doctors have been able to slow down the ageing process by using various new medicines.
The increasing awareness towards the disease has helped such children to live a more healthy life. Though generally such patients have an average age of 13-21 years, patients of the disease are reported to have lived till forties