Ground report

A rare skeletal disorder that has plagued Poonch residents has finally been identified

A new study has found that generations of marrying with the same community has crippled dozens of residents with a genetic deformity.

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.”

A labourer carrying a PPD-affected person uphill, towards the village. (Photo: Rayan Naqash)
A labourer carrying a PPD-affected person uphill, towards the village. (Photo: Rayan Naqash)

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.

Representative radiographs of affected from both families. (Image: Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir, India)
Representative radiographs of affected from both families. (Image: Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir, India)

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.

Abdul Baqi Malik lives with his brother and has been handicapped for more than five decades. (Photo: Rayan Naqash)
Abdul Baqi Malik lives with his brother and has been handicapped for more than five decades. (Photo: Rayan Naqash)
(Photo: Rayan Naqash)
(Photo: Rayan Naqash)

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.

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Swara Bhasker: Sharp objects has to be on the radar of every woman who is tired of being “nice”

The actress weighs in on what she loves about the show.

This article has been written by award-winning actor Swara Bhasker.

All women growing up in India, South Asia, or anywhere in the world frankly; will remember in some form or the other that gentle girlhood admonishing, “Nice girls don’t do that.” I kept recalling that gently reasoned reproach as I watched Sharp Objects (you can catch it on Hotstar Premium). Adapted from the author of Gone Girl, Gillian Flynn’s debut novel Sharp Objects has been directed by Jean-Marc Vallée, who has my heart since he gave us Big Little Lies. It stars the multiple-Oscar nominee Amy Adams, who delivers a searing performance as Camille Preaker; and Patricia Clarkson, who is magnetic as the dominating and dark Adora Crellin. As an actress myself, it felt great to watch a show driven by its female performers.

The series is woven around a troubled, alcohol-dependent, self-harming, female journalist Camille (single and in her thirties incidentally) who returns to the small town of her birth and childhood, Wind Gap, Missouri, to report on two similarly gruesome murders of teenage girls. While the series is a murder mystery, it equally delves into the psychology, not just of the principal characters, but also of the town, and thus a culture as a whole.

There is a lot that impresses in Sharp Objects — the manner in which the storytelling gently unwraps a plot that is dark, disturbing and shocking, the stellar and crafty control that Jean-Marc Vallée exercises on his narrative, the cinematography that is fluid and still manages to suggest that something sinister lurks within Wind Gap, the editing which keeps this narrative languid yet sharp and consistently evokes a haunting sensation.

Sharp Objects is also liberating (apart from its positive performance on Bechdel parameters) as content — for female actors and for audiences in giving us female centric and female driven shows that do not bear the burden of providing either role-models or even uplifting messages. 

Instead, it presents a world where women are dangerous and dysfunctional but very real — a world where women are neither pure victims, nor pure aggressors. A world where they occupy the grey areas, complex and contradictory as agents in a power play, in which they control some reigns too.

But to me personally, and perhaps to many young women viewers across the world, what makes Sharp Objects particularly impactful, perhaps almost poignant, is the manner in which it unravels the whole idea, the culture, the entire psychology of that childhood admonishment “Nice girls don’t do that.” Sharp Objects explores the sinister and dark possibilities of what the corollary of that thinking could be.

“Nice girls don’t do that.”

“Who does?”

“Bad girls.”

“So I’m a bad girl.”

“You shouldn’t be a bad girl.”

“Why not?”

“Bad girls get in trouble.”

“What trouble? What happens to bad girls?”

“Bad things.”

“What bad things?”

“Very bad things.”

“How bad?”

“Terrible!!!”

“Like what?”

“Like….”

A point the show makes early on is that both the victims of the introductory brutal murders were not your typically nice girly-girls. Camille, the traumatised protagonist carrying a burden from her past was herself not a nice girl. Amma, her deceptive half-sister manipulates the nice girl act to defy her controlling mother. But perhaps the most incisive critique on the whole ‘Be a nice girl’ culture, in fact the whole ‘nice’ culture — nice folks, nice manners, nice homes, nice towns — comes in the form of Adora’s character and the manner in which beneath the whole veneer of nice, a whole town is complicit in damning secrets and not-so-nice acts. At one point early on in the show, Adora tells her firstborn Camille, with whom she has a strained relationship (to put it mildly), “I just want things to be nice with us but maybe I don’t know how..” Interestingly it is this very notion of ‘nice’ that becomes the most oppressive and deceptive experience of young Camille, and later Amma’s growing years.

This ‘Culture of Nice’ is in fact the pervasive ‘Culture of Silence’ that women all over the world, particularly in India, are all too familiar with. 

It takes different forms, but always towards the same goal — to silence the not-so-nice details of what the experiences; sometimes intimate experiences of women might be. This Culture of Silence is propagated from the child’s earliest experience of being parented by society in general. Amongst the values that girls receive in our early years — apart from those of being obedient, dutiful, respectful, homely — we also receive the twin headed Chimera in the form of shame and guilt.

“Have some shame!”

“Oh for shame!”

“Shameless!”

“Shameful!”

“Ashamed.”

“Do not bring shame upon…”

Different phrases in different languages, but always with the same implication. Shameful things happen to girls who are not nice and that brings ‘shame’ on the family or everyone associated with the girl. And nice folks do not talk about these things. Nice folks go on as if nothing has happened.

It is this culture of silence that women across the world today, are calling out in many different ways. Whether it is the #MeToo movement or a show like Sharp Objects; or on a lighter and happier note, even a film like Veere Di Wedding punctures this culture of silence, quite simply by refusing to be silenced and saying the not-nice things, or depicting the so called ‘unspeakable’ things that could happen to girls. By talking about the unspeakable, you rob it of the power to shame you; you disallow the ‘Culture of Nice’ to erase your experience. You stand up for yourself and you build your own identity.

And this to me is the most liberating aspect of being an actor, and even just a girl at a time when shows like Sharp Objects and Big Little Lies (another great show on Hotstar Premium), and films like Veere Di Wedding and Anaarkali Of Aarah are being made.

The next time I hear someone say, “Nice girls don’t do that!”, I know what I’m going to say — I don’t give a shit about nice. I’m just a girl! And that’s okay!

Swara is a an award winning actor of the Hindi film industry. Her last few films, including Veere Di Wedding, Anaarkali of Aaraah and Nil Battey Sannata have earned her both critical and commercial success. Swara is an occasional writer of articles and opinion pieces. The occasions are frequent :).

Watch the trailer of Sharp Objects here:

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This article was published by the Scroll marketing team with Swara Bhasker on behalf of Hotstar Premium and not by the Scroll editorial team.