Mysuru: This is an extraordinary story of a brother and sister from Mandya, who are prepared to risk their lives to find a cure for one of the world’s rarest diseases – Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome.
The condition which affects one in 300,000 babies and currently less than 2,000 people worldwide, has stunted the growth of the siblings, Jayanth Gowda, 22 and Rekha , 20, who are just 2.5 feet tall, have partially impaired ears and eyes and suffer from chronic bone problems.
They depend on a wheelchair, are prone to cardiac arrest and need to undergo a mandatory annual check-up. They survive on high doses of pain killers and calcium tablets, which means an expenditure of Rs 3 lakh per annum. Now the disease is getting worse.
The two have written to US Surgeon General, Vivek Murthy, who hails from Mandya , offering to undergo human trials in the US where a pharma company has discovered an experimental drug for the rare disease.
“We were diagnosed with this genetic disorder at the age of two. We have fought our way through for almost 20 years and now there is a ray of hope with a US firm, BioMarin Pharmaceutical, coming out with a drug.
We are ready to undergo human trials and even if something happens to us, it makes no difference as we are already dying every day with pain and becoming a liability to our parents, who have sacrificed everything till date just to keep us alive,” the duo told Deccan Chronicle.
The siblings plan to meet Dr Murthy in February, when he is likely to visit Mandya to open a festival.
