Hope for remote J&K village battling rare genetic bone disease

After an intervention by the State Social Welfare Board chairperson Nirmal Gupta and Jammu and Kashmir Governor NN Vohra, the state health department is finally taking action to counter a major health crisis simmering in a remote village on the borders of Jammu and Kashmir.

One in every 23 people of Arai village in Poonch district suffers from a rare skeletal disorder which manifests itself with pains and swelling of joints, leading to disabilities.

Genetic investigations undertaken by teams of experts from University of Jammu and Shri Mata Vaishno Devi University identified the disease as ‘Progressive Pseudo-rheumatoid Arthropathy of Childhood’. Also known as Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy, it’s a genetic disease.

“So far, 84 people from the village of 2,000 have been diagnosed with the disorder. The prevalence of this disease in the village has been identified as a result of consanguineous, or inter-family, marriages common among the locals,” said a spokesman of the state government.

Recently, Gupta met Governor NN Vohra, and sought his help in dealing with the adverse effect of the mysterious disease. Government apathy and financial problems deprived people of access to any sort of treatment.

Following directions issued by the Governor, J&K’s Department of Health has now drawn up an action plan to deal with the crisis. A team of experts, including counsellors, will soon visit Arai. Patients who require surgical corrections, prosthetic aids and palliative care will also be identified.

“Experts from the Jammu University and Shri Mata Vaishno Devi University will conduct DNA profiling of the targeted population, particularly those of marriageable age, and counsel them suitably,” the official said.

A Composite Regional Centre for persons with disabilities is also being set up, the Deputy Commissioner of Poonch, Mohammad Harun Malik, told DNA. “A sizable population is suffering from disabilities. Stunted growth (dwarfism) is noticed within a short time after birth and their limbs remain weak. Surveys and research have been undertaken in the past by various experts, but nothing concrete came of them,” said Malik.

Meanwhile, locals believe that not consanguineous marriages, but some sort of water or soil contamination could be the main cause of the genetic disorder. Mohommad Fareed Malik, President, Pir Panjal Awami Development Front (PPADF), an organisation that works with genetic disorder victims, said, “It doesn’t affect only children from consanguineous marriages. Perhaps, it’s due to some kind of contamination. In most cases in the village, symptoms manifest when the person is about eight years old, leading to dwarfism and disabilities.”

Decoding PPRD

Progressive pseudorheumatoid dysplasia is a joint disease characterised by degeneration of the cartilage between bones. PPRD is often mistaken for another joint disorder that affects young people, called juvenile rheumatoid arthritis. PPRD usually begins in childhood, between ages 3 and 8. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers, enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints.