The Line of Control (LoC) near Jammu and Kashmir’s Poonch district runs through picturesque mountains, alpine lakes, meadows and valleys. Nestled within this nature’s grandeur is a cluster of villages called Sawjian. A narrow road links this area to the mainland of the district, maintained primarily to ensure connectivity for important Indian military posts. However, beneath its scenic beauty lies the complexities of life on the border. An hour long arduous trek from Sawjian lies Paralkot, a village shrouded in obscurity.
The journey to Paralkot involves a five-kilometre walk due to lack of connectivity and roads. The rugged mountain terrain exacerbates the village’s difficulties. This region is not only geographically isolated, but it also has socio-political disadvantage – an astounding 80% of the population of this village is afflicted by a rare genetic disorder that results in speaking and listening impairments.
After nearly a decade of electoral absence, Jammu and Kashmir has recently made a tentative return to democratic engagement. However, Paralkot’s health challenges have been overlooked by successive regimes for decades, resulting in minimal support for the community.
A woman affected by this rare genetic disorder standing outside her home. Photo: Author provided.
Paralkot is not the only village in J&K with rising genetic diseases. Villages like Arai in Mandi sub-division of Poonch district and Dadkhai in Doda district of Chenab Valley are on this list too.
The anomaly in Paralkot’s genetic makeup is both perplexing and distressing. Of its 300 residents, 260 grapple with the genetic disease, either from birth or developing it during adolescence. Young boys and girls live with a perpetual sense of fear and uncertainty, not knowing when the precious gifts of speech and hearing might be snatched away.
In 1991, in response to this debilitating condition, several villagers, including those from the adjacent Chhamber-Kaneri, migrated to Pakistan occupied Kashmir in search of answers.
Most of Paralkot’s inhabitants live below the poverty line. Those unaffected by the genetic disorder often find work as casual labourers in the army, while others remain confined to the village, unable to help their kin.
The lack of medical intervention or scientific inquiry has led villagers to attribute this affliction to curses and supernatural forces. Locals unaware of the genetic anomaly had even started calling Paralkot a “cursed village”. This has added to people’s anxiety and led to social othering.
This, coupled with the government’s neglect, has had dire consequences – particularly for the women of Paralkot – who remain unmarried and marginalised due to their condition. Many are forced to resort to intra-family marriages, further perpetuating the genetic anomaly.
Century-long plight
Despite decades of suffering, it wasn’t until 2018, when news reports by local journalists and a Public Interest Litigation (PIL) in the J&K high court demanded action from the administration.
Consequently, a commission headed by advisor K. Vijay Kumar was appointed to investigate the matter. Subsequent medical examinations and genetic profiling of Paralkot’s residents revealed the underlying causes of the problem and restrictions were imposed on consanguineous marriages.
Former Sarpanch Ismail Bhat recounts that until 2018, no government team had visited the village in 40 years, leaving its residents without basic amenities like an anganwadi centre, healthcare facilities, or even road connectivity. Even today it takes one hour on foot to reach the village.
Bhat passionately advocates for the creation of a specialised educational institution staffed with proficient sign language educators. This initiative aims to bridge the educational gap between children with disabilities and their able-bodied peers. Ismail stated that his own 25-year-old daughter, a college graduate, has experienced a 50% decline in her hearing capabilities. Bhat believes that a special political and economic zoning of Paralkot could help rectify past mistakes and prevent a further increase in the region’s problems.
Farooq Ahmed, a local resident, spoke of the struggle for employment due to communication barriers and disabilities in their families. He urged the government to provide special economic incentives and job opportunities to these marginalised youths.
Scientific investigation into the mater
A team of medical experts from various institutions – including the ENT department of Government Medical College, Jammu, sub-district hospital Mandi, Jammu University and Shri Mata Vaishno Devi University, Katra – was convened in 2018 to investigate the prevalence of hearing and speech impairments in Paralkot.
Considering heredity as a potential factor, Dr. Parvinder Kumar, Deputy Coordinator, Institute of Human Genetics, University of Jammu, and Dr. Swarkar Sharma Director, Department of Molecular Biology, Central University Jammu, proposed a genetic study of the hearing-impaired individuals in Paralkot.
Speech and hearing impaired women from Paralkot village. Photo: Author provided.
Kumar stated that the collected information underwent extensive study. Phenotypes and characteristics were thoroughly discussed with peers. After a detailed pedigree analysis and deliberation, the disease has been clinically diagnosed as a potential form of non- syndromic hearing loss (sensorineural). This diagnosis is supported by familial inheritance following a typical pattern, as evidenced by detailed pedigree analyses of extended families.
The present genetic evaluation indicates a rare autosomal recessive genetic disorder. The age of onset is typically reported to be between three to eight years, and it is progressive, as indicated by the collected family history.
A few samples were analysed using next generation sequencing technique. The results revealed variations in two genes, which are being further validated by Sanger sequencing methods in the rest of the family members.
Kumar also emphasised that the ongoing analysis is a meticulous process, requiring time to draw correlations from the findings. The findings of these studies are not just for academic purposes but will also be shared with the J&K high court.
Two other villages face similar challenges
In Jammu and Kashmir, numerous remote villages endure the burden of rare genetic diseases, necessitating global and governmental intervention and acknowledgment. A similar study conducted in 2013 in the neighbouring Arai Village identified a rare recessive genetic disorder known as ‘Progressive Pseudorheumatoid Arthropathy of Childhood’ (PPAC) or ‘Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy’ (SEDTPA), with an onset also reported between three to eight years.
In Arai, the severity of observed deformities led to 84 individuals with disfigured hands being unable to enrol for Aadhaar cards in 2017 due to the requirement of fingerprint scanning. The scientific study and identification of such villages and population pockets is still underway.
J&K is a unique area in India with a high prevalence of genetic disorders due to factors like endogamy and consanguinity, which increase the occurrence of recessive alleles. This leads to a higher incidence of genetic disorders. According to Kumar, ongoing research has identified three villages – Arai, Dhadkai and Paralkot – with significant genetic disorders. Kumar notes that J&K’s hilly terrain and the geographical isolation of its population result in small, inbred communities.
The government must act decisively and offer not just medical intervention but also socio-economic support to the people of these villages. Paralkot’s inclusion in special development schemes should be prioritised and all such villages must be provided with essential amenities and infrastructure along with increased attention from global health bodies.
Kanwal Singh is a Policy Analyst and Columnist from J&K and Garima Sudhan is a PhD scholar in the Department of History and Archaeology at Shiv Nadar Institute of Eminence.
