KOCHI: Manoj, a businessman lost his nine-year-old daughter Sarika last year to Pompe, an extremely rare, disabling and degenerative disorder. Now his son Govind, aged six, has also been diagnosed with the same disease. “Losing our little daughter was devastating and shattering enough for my wife and me. Govind is our only ray of hope,” said Manoj.Manoj and his family were present at a press event organised by the Lysosomal Storage Disorders Support Society (LSDSS), a national-level patients group formed by the parents of patients suffering from LSDs.Pompe is a life-threatening disease which disables the heart, respiratory muscles and skeletal muscles. It belongs to a broader category of disorders called Lysosomal Storage Disorders (LSDs). These are a group of inherited metabolic disorders that result due to the absence of a specific enzyme in the body, the prevalent ones in India being Pompe, Gaucher, Fabry and MPS-I, II, IV, among others.LSDSS president Prasanna Kumar Shirol said, “My daughter was also diagnosed with Pompe when she was seven. Four years down the line, I consider myself fortunate to have found the right medication, which has made her life somewhat ‘normal’. I, however, recognise the plight of other parents like Manoj seeking treatment and awareness. The LSDSS was thus formed to educate parents as well as doctors and to garner the desired support. It’s a plea to our leaders to help us support such patients.”Dr Sheela Nampoothiri, clinical professor, Department of Pediatric Genetics, Amrita Institute of Medical Sciences, said, “Many rare diseases are extremely disabling, life-threatening and challenging, both physically and emotionally. Also, it takes several years for the right diagnosis because of the rarity of the diseases and minimal research being conducted in this field. The treatment is available, but is very expensive and is not being covered by the insurance or any state or Central Government scheme.”The LSDSS aims to persuade the Central and state governments and other stakeholders to establish a sustainable healthcare model for all LSD patients in the country. Moreover, it helps patients get proper treatment in time. The organisation hopes to provide the best care and expects optimum outcome from patients.For details, call 98189-34440 or 9711348461.
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