Clawed hands, enlarged joints and folded legs have rendered twenty six-year-old Shehnaz Akhtar Malik immobile. Basking in the afternoon sun, her head hung low and she avoided attention to herself.
Shehnaz was just eight or nine years old when she started showing signs of a mysterious ailment that also affects her brother Mohammad Farooq Malik, who is 14 years older than her. Though the residents have no name for this disease, it is all too familiar in Arai, a cluster of three villages in Poonch district of Jammu and Kashmir. Village elders say the disease has crippled people for decades and estimate 85 cases at present in all three villages.
Unidentified for decades due to the lack of advanced healthcare facilities, the disease has affected hundreds among two major family groups in these hilly villages. For some residents, their disability certificates say they have polio. Others believe that an old saint’s curse that cannot be easily removed has affected them. The residents gave up on medical consultation about this condition long ago.
“We did not think it would be fruitful to go to a hospital,” said Shehnaz’s father Mohammad Shafi Malik, a retired teacher. He did not take Shehnaz to a doctor for consultation after his son Farooq and other affected individuals from the village returned undiagnosed and unimproved. “They (doctors) had already turned others down saying polio has no cure. Some (doctors) say it is a deficiency of calcium, some say it is excess of it. No one helps.”
For decades, no one has known what this disease that has plagued the Arai is or how to contain it – until now.
A recent study published in Nature’s journal Scientific Reports has attributed the symptoms to Progressive Pseudorheumatoid Dysplasia or PPD that occurs because of a rare genetic mutation caused by generations of marriage only within a highly consanguineous society.
PPD ordinarily affects one person in a million people in the United Kingdom but is thousands of times more prevalent in this small village cluster. With 85 affected persons in a population of about 6,400, the disease affects one in every 75 people.
While PPD does not affect the intelligence of a person, he or she gradually develops a disturbed gait and abnormal posture due to progressive deformity of the spine. The study elaborates that after adolescence affected individuals developed stiffness in the enlarged joints, comptodactyly – a medical condition that causes one or more fingers or toes to be permanently bent –, involvement of the shoulders, shortened stature by 10–18 cm due to dorsal kyphosis – the technical term for a hunched back –, a deformed pelvis, and an inability to straighten the elbows and knees.
Symptoms of PPD appear at very young ages of between 4 years and 8 years and intensify as an affected person’s skeletal system grows. The disease first hits the knuckles, knees and elbow joints. “Very slowly it takes control of the body,” said Shehnaz’s father Shafi. “They drag themselves to move if they can.”
The investigation
Swarkar Sharma, one of the members of the research team, geneticist at the Shri Mata Vaishno Devi University in Katra and native of Poonch saw local news reports about debilitating born deformities among its residents, he decided to dig deeper.
Along with scientists from the University of Jammu, the Centre for Cellular and Molecular Biology in Hyderabad, the University of Texas Southwestern Medical Center in Dallas, and the RIKEN Center for Integrative Medical Sciences in Tokyo, Sharma studied familial information, x-rays, blood and DNA samples of 25 PPD affected residents of the area.
Their findings showed that the residents of the two villages were, in fact, two large families. “Two independent mutations were causing [the symptoms] in two large extended families,” said Sharma. The study confirmed that the disease affecting residents of Arai is PPD, a genetic disease caused by mutations in a gene called WISP3.
The mode of inheritance of the PPD-causing WISP3 mutation is recessive. This means that while every individual has two copies of DNA, the disease does not show up unless both copies of the individual’s DNA are flawed. Consanguinity increases the probability of both bad copies coming together.
The DNA mutation promotes bone formation in joints, which are normally made up of both rigid bone and flexible cartilage. For PPD victims like the Maliks “all cartilages in the joints are converting into bone due to which the joints get locked,” said Sharma.
Although this group of scientists has now cracked the medical mystery of the Arai, most residents are still guessing at what they have. PPD can be identified by clinical radiological examinations. “The confirmation can only be done by genetic screening,” said Sharma. “It could not be diagnosed in the region as genetic diagnosis was all together lacking.”
The Maliks’ misery
The highest number of occurrences of PPD is found in Malikaan panchayat – literally the Malik’s panchayat – where marriages have been solemnised between cousins for generations. The village had been isolated from the rest of Poonch, Jammu and Kashmir and rest of the world until about five years ago when a road was built to connect the area to the nearby towns.
Mohammed Aslam Malik was five years old when his symptoms appeared and he dropped out of school in class 5. “By the age of 12, it became difficult to walk,” said Aslam, who is now thirty years old. “I didn’t even go to a hospital. The road was made only a few years ago. Who would have carried people like me to the hospital?”
Aslam is unable to stretch his legs. He sleeps as he lives – in a fetal crouch. “All my joints start aching when I get up at 5:30 in the morning,” he said. “It starts to get better 10-20 minutes after the sun is out.”
The use of only his arms for navigation has left his enlarged knuckles covered in dead skin from the bruises of dragging himself around. He laughs while elaborating on his immobility. “I drag myself from my home to the end of the village, where it’s still comparatively flat.” To get to other places, he depends on help from family members
Aslam’s seventeen-year-old brother Dawood Ahmad Malik also has PPD and is also dependent on his family to get him to school. They carry him down the hill and across a bridge.
Sixteen-year-old Shafeeq Malik, however, has moved to a seminary down the hill for convenience. The school dropout has memorised the Quran and now teaches young children at a seminary. Initially, Shafeeq used a stick to prop himself up but as his posture worsened and his body began to bend, he was given crutches that he now uses to walk from class to class.
Shafeeq has an elder brother who is a cleric at the same seminary and whose son also has PPD.
The list goes on.
Hardly any medical aid
For the many suffering PPD, Aira has a cumbersome lack of basic infrastructure. Most of the houses in the three villages do not have toilets and an immobile, PPD-stricken people have to be carried to the fields for their ablutions.
The main road can only be reached from the village only after a steep climb and a footbridge across the stream. Parts of the road and the approach to the footbridge caved in after the floods in 2014.
The nearest hospital is 5 kms away and there is no guarantee of a doctor being available at the facility. Disabled for more than five decades, sixty five-year-old Abdul Baqi Malik gets a meager pension of RS 300 a month and cannot afford to go to hospital for regular check ups. “If I fall sick, all my pension would go to the labourer who will carry me and whatever few medicines I have to buy,” said Baqi, who is the uncle of PPD victims Dawood and Aslam.
Kishore Kumar, the community health officer in the area, had not heard of PPD till Sharma and his research team conducted their study. Now, government health officials like Kumar have started treatment and counseling based on the new findings. “We hold medical camps at regular intervals dispensing medicines (painkillers) and counseling them to avoid marrying within their families,” said Kumar.
Genetic counseling
PPD can be treated with physiotherapy to ease discomfort where deformity was inevitable and corrective surgery, said Sharma. But he advises a two-prong strategy to contain the disease with the second tactic being genetic screening and counseling for which the government’s participation is necessary.
Sharma said that genetic screening needed to be done to identify carriers of the mutated recessive gene, who do not have symptoms of the disease but can have children who could be affected if their spouses have are carriers too. This, Sharma pointed out, was also the reason for genetic counseling in the community to advise against consanguineous marriages. “Genetic counseling is very critical if this has to be checked in future generation,” said Sharma. “Healthy people too need to be screened so that it can be prevented in the unborn generation.”
Finally Arai has a name and a possible way to eliminate the disease that Baqi has seen haunt the villages for most of his life. “Even before me there more than 10 mazoor – handicapped – in the village,” he said. “Everyone has the same problem here.”
This reporting project has been made possible partly by funding from New Venture Fund for Communications.