“The cost of my Enzyme Replacement Therapy (ERT) alone is ₹1.3 crore a year. It’s taken care of by a charitable venture. However, my symptomatic treatment, diet chart, bone issues and eye treatment have to be treated and paid for separately. Gaucher’s disease, one of the diseases under the LSDs [lysosomal storage diseases] umbrella is an expensive ailment to treat. Those diagnosed with it have to stick to a life-long treatment plan,” said 26-year-old MBA graduate Shashank Tyagi.
‘Awareness is important’
Mr. Tyagi, who works with his businessman father, was diagnosed with Gaucher’s disease at the age of 14 years at the All India Institute of Medical Sciences (AIIMS) after his spleen and liver got enlarged and he developed a protruding abdomen.
“Awareness about rare diseases is very important. My symptoms started appearing in 1995 when I was 5-years-old. However, I got diagnosed in 2004. It took nearly a decade to get an accurate diagnosis as there was no awareness among doctors. Only a few were aware of this condition. If my diagnosis and treatment had happened earlier, I wouldn’t have minor curvature of the spine. I developed the problem due to late treatment and diagnosis. Our main demand now is to get quick access to treatment for diagnosed patients,” he said.
Govt. policy needed
Adding that the government should come up with a policy quickly to help rare diseases patients as it’s impossible to fund your own treatment, he said. “I’m just like any other youngster, but the disease restricts by activity levels. The disease and its life-long handicaps are something I will have to live with. However, everyone should know that screening before birth, early diagnosis and access to medicines are game changers,” said Mr. Tyagi.
He added: “Currently, the treatment and medicines are beyond the reach of the common man. Medicines aren’t available to all. It’s all about chance and good luck! Even the waiting list gives priority to younger children where damage can be minimised. That shouldn’t be the case. You can’t pick and chose who to give life saving medicines to….its just cruel.”
