LUCKNOW: A school dropout tailor, Dinesh Jaiswal, in a remote village of UP has become a crusader against MPS-I (or Mucopolysaccharidosis-I) and other rare disease that may affect one in one lakh children around the world.Three of his four children are suffering with this medical condition and are under the supervision of doctors at the medical genetics department of Sanjay Gandhi’s Post Graduate Institute of Medical Sciences (SGPGIMS).“It was the festival of gudia... My eldest daughter Ranjana was 6-7 years of age. Customarily, my mother pulled her hand to apply mehendi... but when she tried to straighten her fingers, she couldn’t... In fact the fingers were as stiff as iron,” recalled the aggrieved speaking to TOI.Ranjana, now 13, was taken to a pediatrician who kept on her medication for eight weeks but failed to get relieve the girl of her problem. The clinic of an orthopaedic expert in Lakhimpur was the next stop who also ‘experiemented’ at his level before sending the girl to King George’s Medical University. Here too the girl was shunted between paediatric and orthopaedic department.In 2012, Ranjana landed at SGPGIMS where her disease was diagnosed. But the family’s problem aggravated as Ranjana’s siblings - Kalpana and Vivek - were also found to be suffering with the same.“Five years since.. we have begged at different quarters to collect money to be able to buy medicines for my children but the cost if so exhorbitant (Rs five lakh per month per child) that no amount of charity can do the needful despite the help of the government helping us through Chief Minister Relief Fund,” rued the mother.The family is almost certain of losing their children to complications caused by the disease. But wants no one else to face the same fate. So they have decided to campaign against the disease. “Unlike me, the well to do may buy medicines for their children but they cannot fight against nature which is to be blamed for the disease. The pain of losing a child is as common for us as it will be for any rich parent. Only prevention can save us from troubles,” he said.MPS-1 IS A RARE DISEASEMPS-I (or Mucopolysaccharidosis-I) is a rare disease caused by mutation in a gene called IDUA. Faculty medical genetics, SGPGIMS, Dr Kausik Mandal stated MPS-1 affects one in one lakh children. “The disease is so rare that newborn and pregnancy screening programmes are bound to miss it. But anyone with a case in the family must go in for genetic testing to rule out the problem,” he said. Rare diseases is an umbrella term used to denote a spectrum of over 5000 diseases usually of genetic origin such as Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, lysosomal storage disorders (such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas) and certain forms of muscular dystrophies.In MPS-1, the mutation hampers production of IDUA enzyme that leads to accumulation of large sugar molecules called glycosaminoglycans (GAGs) in body called lysosomes. This first causes enlargement of the lysosomes and then of organs and tissues this creates a series of medical problems and deformities.Though there is no cure for MPS-1, enzyme replacement therepy is recommeneded to manage the condition. Despite this, decline in mental abilities and shorter lifespan are inevitable. As per provisions of the union health ministry, the test is conducted free of cost in different places including SGPGIMS.INDIANS MORE PRONE TO RARE DISEASEAs per experts, Indias were more prone to rare diseases like MPS-I. “The practice of marrying within the community poses a higher risk of rare diseases among Indians,” said Dr Seema Kapoor, faculty paediatrics, Maulana Azad Medical College who is associated with Indian Society of Inborn Errors in Metabolism.As per an estimate from the union ministry of health and family welfare, India could be home to over eight crore persons suffering from rare diseases. At present, exact pattern and prevalence of rare diseases in Indian population is not known but international estimates suggest that 6-8% of Indians suffer from the problem.

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