A rare disease that affects 1 in 5 lakh people

Mumbai Girl With Rare Disease Gets New Lease Of Life
unnamedunnamed (1)Running back home from school is the happiest moment of every child’s day , but nine-year-old Deepa Gupta could not savour this joy. Every time the Class III student ran, played or walked a bit longer than usual, she would clutch at her chest like heart disease patients decades older than her.Not surprisingly , Mumbai doctors found she suffered from a rare disease that had resulted in deposits of soft plaque in her left main artery and caused a 90% blockage.

The only bright spark in Deepa’s health charts in recent months is the angioplasty she underwent and the hi-tech stent–a tiny mesh-like device to keep arteries open–costing over Rs 1.9 lakh, that she got free of cost on Thursday .

“She is possibly the youngest in the world to get a bio-absorbable stent. It will disappear within the next 18 months and leave the left main artery like it was before the disease,” said cardiologist Dr Hasmukh Ravat who operated on her at For tis Hospital, Mulund.

The stent was flown in from Delhi as the dimension needed for Deepa wasn’t available in Mumbai.

But for her mother Nisha and father Deepak, who runs a paani-puri stall in Thane’s Wagle Estate area, the no-cost operation has a deeper meaning. “I lost my first-born daughter a decade back when she was barely five years old.She would complain of chest and abdomen pain and faint at times, but no one could diagnose her problem. One day , she literally dropped dead and we could do nothing to help her,“ said Deepak. He feels vindicated that he could get Deepa to meet paediatric cardiologist Dr Swati Gharekar, who consults at Fortis Hospital as well as BMC-run Sion Hospital, who made the diagnosis.“When she came to me, I did an electrocardiogram that was normal. But when the father told us about his other daughter’s death, we decided to check futher,“ said Dr Gharekar. Deepa’s lipid profile was an eye-opener: her total cholesterol count was over 890 milligrams per decilitre of blood, almost four to five times the normal level.

“We realized she had amilial hypercholesterolemia or a genetic abnormality that causes unusual cholesterol deposition,” said the doctors.A CT scan of the heart showed 90% deposits in her left main artery . “The blocked left main caused her symptoms such as chest pain, difficulty after eating,“ said Dr Ravat.

Familial hypercholesterolemia is a rare disease, affecting one in five lakh people.Cardiologist Dr Ajay Mahajan said he sees two such paediatric patients every year at Sion Hospital where he teaches. “If the child gets a chromosomal abnormality from both her parents, then the progress to atherosclerosis (deposits of plaque in arteries) is faster and more aggressive,“ said Dr Mahajan, who added that newer medicines are on the anvil that may help such patients.

At present, patients like Deepa have to depend on lifestyle and dietary changes as well as medicines like statins that are usually prescribed for older heart patients. Her doctors are in the process of raising funds for the medi cines that the child will require throughout her life.“We never realized such a dis ease existed. We want other parents to know and be better prepared,“ said Deepak.

error: Content is protected !!