<p>Shashank, 22, had to wait for 14 years before his genetic disorder — goucher disease — could be diagnosed. Despite being based in the Capital, delay in the treatment, worsened his condition.<br /><br /></p>.<p>Currently pursuing Masters in Business Administration, he has to go to Mumbai 15 times a year for check-ups, jeopardising his education.<br /><br />“I showed symptoms of gaucher disease from an early age due to low immunity levels. I had typhoid at the age of two and would feel tired all the time,” said Shashank. <br /><br />“But no one could diagnose till I was 14 years old. I know another guy who started treatment at seven and has much stronger bones than I do,” added Shashank, an international business and finance student.<br /><br />He could not apply to many prestigious institutes as proximity to home is key to his life.<br />“Due to the progressive nature of the disease, earlier the treatment, the better it is. If it is untreated for long, some permanent damages do happen which cannot be reversed,” said Dr Sunita Bijernia of Sir Ganga Ram Hospital.<br /><br />His treatment started at All India Institute of Medical Sciences (AIIMS). Later, he went to the Christian Medical College, Vellore and started his enzyme replacement therapy (ERT). After two sessions he returned to AIIMS.<br /><br />“Gaucher is a genetic disorder in which body lacks a particular enzyme. The function of enzymes is to break substrates in the body. In absence of such enzymes, the function is not performed that leads to storage disorder. The patients will have weak bones, will be anaemic and have malfunctioning liver and spleen,” added Dr Bijernia. <br /><br />Shashank enrolled for clinical trial of capsules of a private company. He has travelled to Mumbai 20 times in one-and-a-half years for screening.<br /><br />“There are two types of treatments. One is to replace the enzyme through ERT, and second is by stopping storage of substrate. Capsules are being tried for the second,” said Dr Bijernia.<br /><br />For early diagnosis of this rare disorder, she said, “If a child is diagnosed of gaucher, the younger sibling should be checked, preferably in mother’s womb as there are 25 per cent chances that the younger child will also contract the disease. Other option is to go for universal new-born screening programme.”<br /><br />Shashank says what he misses the most are outdoor activities like playing with his peers. “I cannot sit in classroom for more than five to six hours due to severe pain in bones. Wooden chairs are out of question,” he said.<br /><br />But an ardent music listener and someone who loves to drive his car, Shashank aims to own a music company of his own one day.</p>
<p>Shashank, 22, had to wait for 14 years before his genetic disorder — goucher disease — could be diagnosed. Despite being based in the Capital, delay in the treatment, worsened his condition.<br /><br /></p>.<p>Currently pursuing Masters in Business Administration, he has to go to Mumbai 15 times a year for check-ups, jeopardising his education.<br /><br />“I showed symptoms of gaucher disease from an early age due to low immunity levels. I had typhoid at the age of two and would feel tired all the time,” said Shashank. <br /><br />“But no one could diagnose till I was 14 years old. I know another guy who started treatment at seven and has much stronger bones than I do,” added Shashank, an international business and finance student.<br /><br />He could not apply to many prestigious institutes as proximity to home is key to his life.<br />“Due to the progressive nature of the disease, earlier the treatment, the better it is. If it is untreated for long, some permanent damages do happen which cannot be reversed,” said Dr Sunita Bijernia of Sir Ganga Ram Hospital.<br /><br />His treatment started at All India Institute of Medical Sciences (AIIMS). Later, he went to the Christian Medical College, Vellore and started his enzyme replacement therapy (ERT). After two sessions he returned to AIIMS.<br /><br />“Gaucher is a genetic disorder in which body lacks a particular enzyme. The function of enzymes is to break substrates in the body. In absence of such enzymes, the function is not performed that leads to storage disorder. The patients will have weak bones, will be anaemic and have malfunctioning liver and spleen,” added Dr Bijernia. <br /><br />Shashank enrolled for clinical trial of capsules of a private company. He has travelled to Mumbai 20 times in one-and-a-half years for screening.<br /><br />“There are two types of treatments. One is to replace the enzyme through ERT, and second is by stopping storage of substrate. Capsules are being tried for the second,” said Dr Bijernia.<br /><br />For early diagnosis of this rare disorder, she said, “If a child is diagnosed of gaucher, the younger sibling should be checked, preferably in mother’s womb as there are 25 per cent chances that the younger child will also contract the disease. Other option is to go for universal new-born screening programme.”<br /><br />Shashank says what he misses the most are outdoor activities like playing with his peers. “I cannot sit in classroom for more than five to six hours due to severe pain in bones. Wooden chairs are out of question,” he said.<br /><br />But an ardent music listener and someone who loves to drive his car, Shashank aims to own a music company of his own one day.</p>
