How many of us are aware of #RareDisease Niemann Pick Type C which has no diagnosis or medicine available in India? How many of us can even think that a normal child will gradually become paralysed and would be unable to talk and eat by himself in just a span of few months? Niemann Pick Type C is one of the rarest diseases which is a genetic neurological disorder caused due to accumulation of lipids (fatty molecules like cholesterol and gangliosides), because of the improper functionality of two proteins (NPC-1 and NPC-2) which help in controlling the movement of lipids inside body cells, particularly in the central nervous system. My brother, Debaneel Paul from Kolkata, West Bengal is a victim of the same disease. It is a genetic disease which is generally inherited from either parent but unfortunately in his case, medical reports proved otherwise that it is pathogenic. So any individual can be a carrier of this disease.

Since birth, Debaneel Paul was healthy, active and absolutely a normal child with sharp mind in terms of his concentration level, memory power, writing and painting skills, competence in cricket playing and understanding etc. He used to practise singing till 21 years of age. According to his family members, they were noticing little behavioral change in his nature when he was around 12 years along with deterioration in academic performance. They consulted doctors and child psychologists in Kolkata for counselling and treatment but all suggested that there is no abnormality in becoming restless as it is the effect of his tender age. Then gradually as years passed, his merit and memory power started deteriorating with little effect on his speech and articulation. His family consulted a number of neurologists in Kolkata and he underwent many medical tests including MRI but all in vain. Nobody could identify any disease. After passing his secondary examination, he could not continue with his regular education due to his health.

Now Debaneel Paul is a man of 24 years. For the past two years, his health started deteriorating significantly with many other symptoms that started to hamper his daily lifestyle. His appetite started reducing and then suddenly he started having swallowing problem of food and liquid with nasal regurgitation of liquids often.  Then finally we consulted doctors at Nimhans Hospital in Bangalore in March 2016 and there his actual disease got detected after a series of tests followed by the final ones, Bone Marrow Test and Clinical Exome Sequencing Test (For reference: UHID No: 20160018010 and MRD No: N767292). It is Niemann Pick Type C which is found in the ratio of 1:150000 according to Rare Diseases India. We revisited Nimhans Hospital in July 2016 for further treatment but there is no solution to this disease from the doctors of Nimhans Hospital.

In the meantime, we consulted Dr. Hrishikesh Kumar, Head, Department of Neurology, Institute of Neurosciences, Kolkata who prescribed Miglustat Zavesca for Niemann Pick Type C but unfortunately the medicine is unavailable in India. Moreover this medicine is not highly effective, depending on its price, which is approximately $2500 per pack as per Actelion, a foreign pharmaceutical company. Our doctor has prescribed some other medicines to control the side effects of this disease as much as possible. A healthy and physically fit boy once is now completely inactive. Both of his hands have become inactive. He cannot do any of his day to day activities on his own and needs a helping hand always. He feels hungry but cannot have food or liquid due to swallowing problem and cough. His up and down eyeball movement has stopped. Within past 8-9 months, his weight has reduced from 64 kg to 45 kg and as a result of which he has become very weak and cannot walk on his own and is almost in a bed-ridden condition. Dr. Hrishikesh Kumar changes his medicine from time to time depending on the condition of patient. Now he has been admitted to Institute of Neurosciences, Kolkata.

Recently I have also contacted the team at National Institute of Health, Bethesda, Maryland who suggested about Vtesse Inc. as they provide a drug, VTS-270 which is still under clinical trial but has been proved effective on many NPC patients worldwide. They have a number of centres worldwide but in India there is no study centre. So far, VTS-270 has proven results and is a much more effective medicine that slower the progress of this disease. They have provided positive response but execution needs assistance from Government of India. I have tried to contact Indian Government through emails, tweets and registration at PMO (Registration No.: PMOPG/E/2017/0016098) but all in vain. So far I have not received any response.

I am praying for medical assistance for my brother as this is the last ray of hope to cure him. Our doctor is ready to take up the challenge along with the assistance of experienced team but VTS-270 is unavailable in our country. This is my earnest request to India Government, especially to Shri Narendra Modi and Shri Jagat Prakash Nadda to take up this case and provide medical assistance to rare disease patients in India who are suffering like my brother and receiving no diagnosis due to unavailability of infrastructure and medicine.