By Madhulika Sonkar, IANS,
New Delhi: It is 11 a.m. on a breezy September morning. Meryl Sarah speedily moves her wheelchair towards her drawing room where several of her glass paintings grace the pale yellow walls like a palette. Her limbs cannot move properly and she cannot stand on her feet as she suffers from Pompe, a rare genetic disorder.
Sarah’s back is bent as her spine remains swollen. Her stomach gets bloated when her condition worsens. But nothing can stop the 21-year-old from entering her world of art – and scripting an inspiring story for others who suffer from the disorder.
“I remember it was a dance class when I fell and could not get up. I was an 11-year-old …this disease has been with me since then, but it never stopped me from following my dreams,” said Sarah, looking at the paintings at her home in Ghaziabad, near the national capital.
It was after a decade of doubt that her disease could be diagnosed.
Pompe, among a group of genetic diseases called Lysosomal Storage Disorders (LSD), is caused by dysfunctioning of the body cells. It is triggered by a genetic defect in enzymes that maintain cellular functioning in the body.
With a rare occurrence of one in 5,000 live births, LSDs have seen little research. Treatment through enzyme replacement therapy will cost hundreds of thousands of rupees a month, say experts.
Sarah, a graduate of computer applications, has never let the feeling of dependence sink in even as she plans to pursue her masters in psychology – long distance.
“I need support for difficult movement like going to the toilet or climbing the stairs. My parents have been my pillars of strength,” she said, adding she has a passion for playing the guitar.
Pompe, Gaucher, Schindler and Wolman are some of the 45 life-threatening LSDs.
“LSDs can be fatal as well as treatable. The disease affects multiple organs and causes progressive physical and mental deterioration over time,” Madhulika Kabra, professor at the genetics division in the department of paediatrics of the All India Institute of Medical Sciences, told IANS.
A preventive programme for diagnosing LSDs during pregnancy is of utmost importance, considering the high cost of treatment, say experts.
“Prenatal diagnostic tests can be done in high risk families to reduce the burden of these disorders. The enzyme deficiency is present since birth but the onset of symptoms can be detected from the neonatal stages,” Kabra explained.
Enzyme replacement therapy that helps improve limb mobility is available for just six of the 45 LSDs, pinning more hopes on early diagnosis and preventive programmes.
“We have some compassionate access programmes for families that cannot afford the expensive treatment. But, even then, the awareness about the diagnosis during prenatal stages is very low. We have very few palliative care centres for any of the LSDs,” said Ratna D. Puri, consultant geneticist at Sir Gangaram Hospital here.
“In India, people have not even heard of the disease,” Puri lamented.
The test is performed at 11 weeks (third month) in pregnancy and can determine if the foetus is affected with the particular disorder under investigation.
For Sarah, uncertainty binds her fate. “I don’t know of enzyme replacement yet. Let’s see if any miracle waits for me and my parents,” she said.
“But doctors tell me that if I do not continue the medicines, I may lose mobility in my upper limbs completely,” she said even as she continued to carry that faint smile on her face. “I want to continue playing the guitar…”
(Madhulika Sonkar can be contacted at [email protected])