Rare disease strikes Kolkata youngster

  • | Saturday | 11th February, 2017

The average life-span of a Niemann patient is 20 years.Those willing to provide financial assistance to the famly can write reehapaul.1986@gmail.com. Even though the disease is genetic, in Debaneel's case it is pathogenic which makes his ailment extremely rare.A DNA test conducted at NIMHANS in Bangalore detected Debaneel's ailment. His family was asked to take him back to Kolkata since the disease was untreatable. In this case, it took years to detect Debaneel's ailment. His family has launched a desperate search for medicines, including those which are still under trial in the USA.Now under treatment at the Institute of Neurosciences Kolkata (INK), Debaneel's ailment was detected last year.

KOLKATA: A rare genetic neuro-degenerative disease Niemann Pick Type C — that has no cure has struck a 24-year-old in Kolkata prompting his family to launch a worldwide search for medicines.Niemann is a crippling disorder that affects one in ten lakhs triggering hallucination, loss of limb and eye movement, loss of speech, eventually leading to death. Debaneel Paul, a resident of Baguihati is probably the only patient to be detected with the terminal illness in the last decade-and-half in Kolkata. His family has launched a desperate search for medicines, including those which are still under trial in the USA.Now under treatment at the Institute of Neurosciences Kolkata (INK), Debaneel's ailment was detected last year. His first symptoms started showing nearly a decade ago when he was in school. But despite seeking treatment at multiple hospitals, the disease could not be diagnosed till 2016. Debaneel had lost much of his limb movements by then, his eyesight was failing and he had difficulty in swallowing food. "The diagnosis left us devastated but we decided not to give up without a fight. I got in touch with several experts around the country and abroad. After numerous e-mails to doctors in USA, UK, Australia and Turkey, I have managed to identify a US institute that is now experimenting with a drug. Even though it's still at the trial stage, they have promised to send us the medicine," said Reeha Paul, Debaneel's elder sister.Niemann Pick strikes when enzymes in the lysosome of human cells stop functioning properly. It is the lysosome that discharges 'wastes' generated in the cells.Once it malfunctions, cells start dying affecting physical activities. It is usually the frontal lobe and the basal ganglia of the brain that are first affected, leading to hallucination and loss of control over limbs. The symptoms gradually intensify and keep multiplying till the patient turns completely immobile. "The initial symptoms are similar to that of a psychiatric patient. But they keep proliferating and the diagnosis is not easy. In this case, it took years to detect Debaneel's ailment. There is yet no medicine for Neumann, other than one that helps to control the symptoms. It has to be imported from Singapore or the USA," said Hrishikesh Kumar, head of the department of neurology at INK who is treating Debaneel. Even though the disease is genetic, in Debaneel's case it is pathogenic which makes his ailment extremely rare.A DNA test conducted at NIMHANS in Bangalore detected Debaneel's ailment. His family was asked to take him back to Kolkata since the disease was untreatable. "We consulted doctors at INK and came to know about the medicine. Then, I started searching the Internet and identified hospitals around the world that were working on Niemann drugs. The National Institute of Health (NIH) in Maryland, USA is one. They not only responded to my queries, but even put me in touch with a doctor in Mumbai who will assist in getting the under-trial medicines from USA," said Reeha.But time is running out for the youngster who had to give up studies after class XI. Debaneel has lost 20 kilos in the last eight months and weighs a mere 44 kg now. He is confined to bed and can't consume anything other than liquids. NIH has promised to send it free of cost. "Since it's an under-trial drug they can't sell it. Even though its effectiveness is yet to be proved, this is probably the only option for Debaneel now," said Kumar. The average life-span of a Niemann patient is 20 years.Those willing to provide financial assistance to the famly can write reehapaul.1986@gmail.com.

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