Nirmal Kamal
It may be a miniscule population among total of 5,000 in a block, it may be negligible figure among total of 5 lakh and it may be no number in total population of 1.25 billion, in the country. It certainly is a figure which is a matter of serious concern as 84 patients are suffering from physical disorder in a small village Arai-located in deep mountains just approximately 27 km away from Poonch town.
The problem is calling attention of members of civil society, social workers, medicos, especially local administration, as well as politicians who are governing the State towards sufferings of these 84 physical impaired patients including large number of small children and adults for the last almost four decades. Most pathetic situation is concerning small children who are fast entering into teenage- a most cherished milestone of life when one wants to fly while dreams blossom, life chases unidentified colorful objects and a phase of life when thunders and splashes of harsh and pleasant weather become meaningless.
But unfortunately, these 84 victims will never fly after the pleasantries of teenage as their wings are clipped. They instead, will enter the world of disabilities the moment they cross 4th, 5th, or 6th year of their life. Yes, this is altogether a different world of Arai- a village where children are born normal to become physically handicapped. A visit to Arai makes one believe that we are still in early 19th century, when health services were barely available.
After getting information about this disease, me and my team from J and K State Social Welfare Board, visited Arai village on 2nd of this month. Members of civil society Social Workers and the victims narrated horrific stories of their sufferings. Molvi Mohd. Fareed informed that villagers are continuously becoming victim of unidentified disease which renders them physically challenged, become unable to walk at any stage of life. For Molvi Mohd Fareed and other victims it appears a genetic incurable disease which may render them deaf also. Victims like Shareefa, who is now 30 years old, say she was born normal but after few years she became handicapped like other children. Now she has to drug herself on the ground instead of walking. Life is put to halt for her. Similarly Kaneeza another victim cannot move due to her disability. She became disabled five months after she was born. Now an adult she has become liability for the family members. There were more children between the age of 5 to 13 brought carried in arms by the parents are any other family member. The pain was visible on their pail and frail looking faces. Their hands were both swollen and stiff or fingers were deformed. It clearly appeared a case of arthritis at initial stage i.e. symptoms of deformity in joint bones. Joint pain and weakening of bones can be attributed to malnutrition and nutritional deficiency. Some cases were indicative of post polio deformity. And polio is claimed to be eradicated.
Other villagers complained that Arai which falls in Mandi Tehsil, lacks basic facilities like Primary Health Center, potable water, proper road connectivity and proper power supply also. According to another victim, to get medical aid one has to come to either Poonch town which is about 27 kms from the village or to Mandi and to carry the patient a labourer charges Rs. 200 to 300 from Arai to Mandi and back which is not affordable for the victims who are poverty ridden.
Observations reveal that Arai has population, mostly migratory in nature. They move from one place to another (Dhok) for their own survival and in search of fodder for their cattle. There dietary habits are not very healthy and balanced. Therefore availability of nutritious diet at the stage when child begins to grow becomes far of dream. Rice,Sarsaun Ka Sagh and Makki Ke Roti are the normal diet they feed to themselves. But some apprehend that soil erosion has also contributed to non availability of agrarian products in the area. According to the people present in the area, basic facilities which play very imperative role are absent. Moreover, complete absence of disabled-friendly infrastructures has accentuated the problem. It is very strange that just at one place there are 84 disabled in the country which claims to improve health facilities in 21st century. Another was quite vocal by saying that the government provides Rs.400 per month pension to the disabled but this entire amount is spent on carrying charges to the health center in the town.
The villagers narrated several stories beginning from the symptoms of the disease till it converts the infants into physically deformed adults, miseries of poverty, lack of basic immunities in the village, negligence on the part of administration in meeting the basic requirements etc. They also informed that sensing some problem with the soil, some children have moved out to avail studies and in search of livelihood. They claim to have become normal. But exodus of all villagers is not possible. When contacted officials from administration, it was informed that way back in 2012, a team of seven institutes namely ; School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu; School of Biotechnology, University of Jammu, Jammu, J and K; Human Genetic Research cum Counseling Centre, University of Jammu, Jammu, J and K; Acharya Shri Chander College of Medical Sciences, Jammu, J and K; Centre for Cellular and Molecular Biology, Hyderabad, A.P, India; Texas Scottish Rite Hospital for Children, Dallas, Texas, USA; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. These institutes concluded that there were found common symptoms of stiffness, joint pains, swelling in joints, fatigue etc which are the initial symptoms often seen among the patients of arthritis. Following is the crux of the report:
“Clinical features of rare disorders are very often poorly understood due to their low prevalence. Quite a few times, these rare disorders remain uncharacterized, or patients are misdiagnosed and get poor medical attention. A mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch, District of Jammu and Kashmir State, India. The typical phenotypic characteristics shared among the affected included: pain, kyphoscoliosis, fatigability, muscular weakness, progressive restriction of joint movement, stiffness and swelling at several joints, including the proximal and distal interphalangeal joints. This village is located deep in mountains, and the population residing in the region is highly consanguineous. Combining multiple lines of evidence (familial histories and genetic data, clinical features, radiological and biochemical data and phenotypic features), we identified the disorder as a recessive hereditary skeletal disease ‘Progressive Pseudo rheumatoid Arthropathy of Childhood’ (PPAC) also known as ‘Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy’ (SEDT-PA). Typically a very rare disorder (for example, with an estimated frequency one per million in UK), in our survey, of this village with a total population of approximately 5,000 individuals, we observed about 70 affected people. Mutations in one reported gene “*WISP3*” are known to be responsible for causing of PPAC. Therefore, we sequenced coding and UTR regions of this gene of two multigenerational extended families from the village. We found a novel splice site mutation at position c.643+1G>A that perfectly segregated with the disease in one pedigree and is most plausibly the cause of disease in this family. Interestingly, the affected in second family also shared identical clinical characteristics and disorder showed similar recessive inheritance. However, WISP3 was negative for co-segregating mutations in the second family suggesting the existence of a different candidate gene for SEDT-PA. Therefore, we are using Next Generation (exome) Sequencing as a promising option and pursuing it. This genetic characterization will aid in molecular diagnosis and genetic counseling, critically required to curb the disorder and to prevent its appearance in future generations in the population.”
Unfortunately the above mentioned report was not made public. Neither any follow up action was taken to the mounting shrieks of suffering patients, of this mountainous body, nor agony writ on the pail and frail faces of infants was felt by the saviors of society. These buds are being neglected to fade away in silent pain.
I strongly plead all the concerned agencies to get involved to put a halt to growing miseries in village Arai, which is fast appearing, an altogether different world.
(Author is Chairperson, J and K State Social Welfare Board )
