The Unseen Plight

From the isolated world of Doda’s Dadhkai village, where silence speaks volumes through its inhabitants, to the peril of Kangri Cancer haunting the chilly winters of Kashmir, and the bone-chilling challenges faced by Arai village in Poonch with its rare skeletal disorders, Jammu and Kashmir is full of stories about rare diseases.

Lost in Silence

Zaman Khan, a shepherd living in the mountainous Dadhkai village of the Doda district of Jammu and Kashmir does not let any of his four hearing and speech-impaired children out of his sight.

“Once I took one of my four children to a nearby town and he got lost there as he couldn’t communicate with anyone,” said Khan, who found his 14-year-old son the next day waiting at a bus stand in the town. His son’s challenge was not just being hearing and speech impaired but having lived his entire life cut out from the rest of the world.

Dadhkai village, located on a mountaintop in Chenab Valley, has at least one member of all the 47 families who can neither listen nor speak. While the first such case was reported from the village in 1931, the numbers have increased to 82.

People in this isolated village with no roads or transport to connect to the rest of the world do not have access to proper healthcare facilities.

Ahmad Khan, 65, a resident of the village said that the medical practitioners have been visiting the village for years now.

“They just take our blood (samples) and leave,” he said. “There hasn’t been any change in our lives over the decades.”

In 2014, while a team of scientists and doctors from Indian Council of Medical Research screened 2473 persons from the village, 33 children below 10 years were found suffering from hearing impairment, while 39 adults were found to have both speech and hearing impairment. The researchers also found that more girls and women suffer from the disorder than boys and men.

However, the study did not make any conclusive findings about the cause of the rare disease in the village.

Noted Kashmiri neurologist, Dr Sunil Raina Kangra, who studied this rare occurrence of the ‘hearing and speech impaired village’ said, “These people are suffering from Otoferlin gene disorder, which is a result of endogamous marriages.”

According to him, the Otoferlin gene disorder is not widespread in any part of northern India.

“The people in Dhadkai reported this in the earlier part of the 20th century and the genetic disorder manifested severely over the generations,” he said. “This type of gene disorder is common among the tribal populations that do not marry outside their clan over generations.”

In the absence of any thorough medical research on the subject, there is a lot of anxiety in the village due to this rare disease.

Whenever a child is born in the village, the only thing on the mind of the villagers is whether the child would have hearing and speech impairment or not.

Beyond the Flames

Abdul Majeed, a resident of Tangmarg area of north Kashmir, lost his 15-year battle with Kangri Cancer in April 2023. His son Mubarak said that his father lived the last years of his life in a miserable condition. Majeed was diagnosed to be suffering with Kangri cancer in 2008.

Kangri cancer, a type of squamous-cell carcinoma of the skin, is found only in Kashmir Valley.

This type of cancer reported on the lower abdomen and inner thighs is caused due to the excessive use of Kangri, a ceramic fire-pot covered with wickerwork, which Kashmiris use to escape the harsh winter cold. Kangri Cancer cannot be fully treated to this day despite being reported for the first time in 1819.

While surgery to remove the primary tumour and external beam radiotherapy are most often the first-line course of action, Kangri cancer patients have been reported to die within a year to 20 years. Although several studies conducted in the past about Kangri cancer looked at genetic mutations, none so far has been conclusive; Cases of Kangri cancer are reported during winter in Kashmir. Most of these cases are reported from rural and far-flung areas.

Noted Kashmiri oncologist, Dr Sheikh Aijaz said that the treatment of Kangri cancer over the years has shown improvement.

“Its first stage is Erythema ab igne, which is followed by hyperpigmentation and erythematous skin, and the skin finally ulcerates,” he said. “With the continuous process of carcinogenesis, the ulcer ends in malignancy and initially results in bleeding.”

According to Dr. Aijaz, in Kangri cancer, the most important source would be lymphatic and the ulcer spreads to the nodes, especially the groin.

“From local it spreads and becomes loco-regional and ends up in lungs, bones and lymph nodes,” he said. “The treatment of Kangri cancer is possible when it is in the local stage but when it spreads, radiation is necessitated after that and when patients turn up for treatment late, they have to be given chemotherapy.”

Bones of Contention

Aijaz Jan, a resident of Arai village of Poonch would play cricket with his friends in childhood.

However, after he developed swelling in his knees, things went from bad to worse for him and within a few years, he could not move.

Jan’s story is not unique in his village. One in every 23 people of Arai village in Poonch district of Pir Panjal region suffers from a rare skeletal disorder. The disorder manifests itself with pains and swelling of joints and leads to disabilities. Genetic investigations conducted by the University of Jammu and Shri Mata Vaishno Devi University have identified this rare disease as a genetic disorder identified as ‘Progressive Pseudorheumatoid Arthropathy of Childhood’ also known as Spondyloepiphyseal Dysplasia Tarda with Progressive Arthopathy’.

Of the 2000 residents of Arai village, 84 people have so far been diagnosed with this rare genetic disorder. The prevalence of this rare genetic disorder has been identified due to consanguineous or inter-family marriages.

Noted Kashmiri neurologist, Dr Sunil Raina Kangra said that though the issue seems to be orthopaedic, it was also a case of a rare genetic disorder.

The problem the residents of Arai village face is also lack of access to healthcare facilities in their vicinity as most of the region is devoid of proper healthcare facilities which people in the twin capital cities of Srinagar and Jammu at least have access to.

As Jammu and Kashmir is connected to the outside world only through a single fair-weather surface link – the Srinagar-Jammu National Highway and for years have been devoid of facilities like better education and healthcare, the rare diseases in the region have not attracted much attention from the researchers and the authorities.

As a result, the people of Jammu and Kashmir have to spend hefty amounts on getting medical treatment by travelling to New Delhi and other cities like Chandigarh, which have better healthcare facilities. As most of the people in J&K are not affluent, they cannot afford such medical treatment.

In such a scenario, the treatment of rare diseases in J&K calls for focused attention.

(The story is done as part of the National Press Foundation’s Covering Rare Diseases Fellowship)