Dr. (Prof.) Nirmal Gupta, Chairperson, J&K State Social Welfare Board, had recently met Governor N. N. Vohra and sought his help in dealing with the continuing adverse effect of a mysterious disease, possibly due to a chronic genetic disorder which is resulting in majority of the residents of village Arai in Mandi Tehsil of district Poonch being severely handicapped.The symptoms of the disease start with joint pains and swelling of joints resulting in the person becoming handicapped. Efforts made earlier for diagnosing the causes of this disease had suggested a mysterious unidentified genetic disorder. Teams of experts from Jammu University and Shri Mata Vaishno Devi University had undertaken a genetic investigation of the disabled persons in village Arai and identified the disease as a very rare skelton disorder known as ‘Progressive Pseudorheumatoid Arthropathy of Childhood’, also known as ‘Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy’, which is an autosomal recessive genetic disease. So far, 84 persons have been identified suffering from this disease in the village which has a population of around 2000. The main reason for spread of this disease has been identified as consanguineous marriages prevalent in this village.
After Dr. Gupta had met the Governor he directed the CEO of the Shrine Board to hold urgent consultations with Dr. M. K. Bhandari, Commissioner, Health and Medical Education, to plan the further course of action. After several meetings Dr. Bhandari has drawn up an Action Plan under which the Health Department will send a team of experts, including Counsellors, for spreading awareness among the villages of Arai and also identifying patients who would undergo surgical corrections, be provided prosthetic aids, palliative care etc etc.The Health Department will identify the patients who will undergo surgery and, with the help of J&K State Rehabilitation Centre, also identify the implements and prosthetic aids which could be provided to the affected persons to ease their day to day lives and, further, examine the modalities for providing palliative care to the disabled persons who cannot be given any other treatment. It has also been decided that experts in the Jammu University and Shri Mata Vaishno Devi University, will conduct DNA profiling of the targeted population of the village, especially persons in the marriageable age groups and advise them suitably.The Deputy Commissioner Poonch will involve the local NGOs for organising regular awareness campaigns to educate the people that consanguineous marriages shall result in spreading the disease to the next generation. Governor N.N. Vohra has asked Dr. Bhandari, Commissioner Health, and Mr. Sahu, CEO Shrine Board to send him monthly progress reports on the implementation of the Action Plan.