Following South First reports, Karnataka is looking at ways to ease the burden of those affected with the rare genetic condition and prevent its recurrence.
Published Sep 02, 2023 | 10:05 PM ⚊ Updated Sep 03, 2023 | 4:38 PM
Officials, medical experts and NGOs now frequent the XP-affected families, in a bid to support them. (Supplied)
Affected by a rare genetic disorder, several children of three villages — Kuratti Hosur, Shettihalli and Bhadrenahalli — in Karnataka’s Chamarajanagar district had been waiting for a certain, premature death. Cocooned in the safety of darkness, these children silently welcomed each dawn with the realisation that the Grim Reaper had moved a day closer to them. Their parents watched helplessly knowing well that the lethal condition, Xeroderma Pigmentosum, was incurable. The state’s health department was unaware of the cluster until South First published a three-part investigative series on the plight of the villagers.
Deeksha was smiling from her mother’s arms when South First first met her at Bhadrenahalli, some four km ahead of Kuratti Hosur in mid-July. The mother, Sudharani, tried to remain cheerful while the 15-month-old Deeksha kept beaming, her eyes tightly shut to the world fast passing by.
The sunlight was hurting her eyes and skin, Sudharani said. The young mother added that the family had decided not to take her to a doctor. “It’s pointless. She won’t live beyond 13 years,” the young mother was resigned to fate.
Almost two months later, the family still hasn’t taken the child to a hospital. Instead, doctors — and Karnataka’s health machinery — rolled in to study and protect the children suffering from Xeroderma Pigmentosum (XP), a fatal skin disorder that had claimed more than 10 lives in the three villages.
Sudharani is now filled with optimism. “I wake up every day determined to do everything in my power to extend my daughter’s life,” she said with a new-found hope.
Savitha’s skin condition. (Chetana Belagere/South First)
The young mother’s joy is boundless. Sudharani has realised that her family is not alone. She knows that they too count.
“Each moment these experts study my daughter’s condition, search for potential treatment, and offer advice. fills us with a profound sense of gratitude and optimism,” her voice choked with emotions.
“These doctors have become the beacon of light in our darkest hours. They are inspiring us to believe that a brighter future is possible for Deeksha,” the mother added.
At Kuratti Hosur, Savitha’s mother Lakshmi couldn’t stop expressing her gratitude. “My daughter celebrated her 14th birthday a few days ago. I can’t thank you enough for your efforts,” she told South First.
In July, Lakshmi was not looking forward to celebrate her daughter’s 14th birthday. “My daughter will celebrate her 14th birthday this August. It means she is a year closer to death,” the mother had told this correspondent in July.
Savitha has three cancers threatening her life. “I don’t know if my daughter will be cured and get her life extended. But I am happy she is at least helping research that will hopefully find some treatment options for other such children,” Lakshmi said.
Lakshmi was crestfallen when she spoke of Savitha’s condition in July. She now has a sense of belonging. The woman is happy that her village and XP-affected children are getting the attention that has evaded them. Government officials, doctors and NGO representatives have visited the village around 10 times after South First‘s reports.
Chief Minister Siddaramaiah, meanwhile, expressed hope that children will have a beautiful life.
“A tweet by the editor of the South First about the occurrence of spot disease in Chamarajanagar came to the attention of our office and within a few minutes, we sent a specialist doctor to the place and took action for providing appropriate treatment. We hope the life of these little children is beautiful,” he said on X, formerly Twitter.
Genetic Counsellor Dr Deepa Bhat of the Mysuru-based JSS Medical College and Hospital prepared a roadmap for further course of action based on Chamarajanagar District Commissioner (DC) Shilpa Nag CT’s instructions. The plan included steps to be initiated to arrest the further deterioration of the physical and mental health of the affected children, and also a budget plan to prevent the recurrence of XP in the villages.
“An action plan, and a budget to address XP in the three villages have been submitted to the DC of Chamarajanagar. Hoping to hear more from the authorities. I am in touch with the authorities and we are continuously interacting with the CEO of Chamarajanagar and also the Nodal Health Officer, Dr Chandrashekar P,” she said.
ಸೌತ್ ಫರ್ಸ್ಟ್ ವೆಬ್ ಪೋರ್ಟಲ್ನ ಸಂಪಾದಕರು ಚಾಮರಾಜನಗರ ಜಿಲ್ಲಾ ವ್ಯಾಪ್ತಿಯಲ್ಲಿ ಚುಕ್ಕಿ ಕಾಯಿಲೆ ಕಾಣಿಸಿಕೊಂಡಿರುವ ಕುರಿತು ಮಾಡಿರುವ ಟ್ವೀಟ್ ನಮ್ಮ ಕಚೇರಿಯ ಗಮನಕ್ಕೆ ಬಂದ ಕೆಲವೇ ನಿಮಿಷಗಳ ಒಳಗೆ ಸ್ಥಳಕ್ಕೆ ತಜ್ಞ ವೈದ್ಯರನ್ನು ಕಳಿಸಿ ಸೂಕ್ತ ಚಿಕಿತ್ಸೆಗೆ ಕ್ರಮ ವಹಿಸಿದ್ದೇವೆ.
ಈ ಪುಟ್ಟ ಮಕ್ಕಳ ಬದುಕು ಸುಂದರವಾಗಿರಲೆಂದು ಆಶಿಸುತ್ತೇವೆ.… pic.twitter.com/2Emxoo0xJG
— CM of Karnataka (@CMofKarnataka) September 1, 2023
The DC, local doctors and Asha workers are frequenting the XP-affected families. Joint Director of Non-Communicable Diseases Dr Uma Buggi visited the families of Savitha and Deeksha on Thursday, 31 August.
Dr Deepa Bhat. (Supplied)
“I visited the two families. We have started supplying sunscreen lotions and moisturisers to children with the condition. Through Asha workers, we have instructed the families to ensure these children wear only full-sleeved clothes and avoid stepping out in the sun, Dr Buggi told South First.
“A monthly financial assistance of ₹1,400 is now being extended to Savitha’s family. I intend to write to the Health Department to provide financial assistance to all the families. I will be asking to increase the assistance by at least ₹1,500-2,000 more,” she added.
Sudharani and Lakshmi said the process to provide assistance has already been initiated. “School authorities visited us and collected Aadhaar card details and other documents from us. They informed us that once it (the process) is completed, we will be getting some money every month,” Sudharani told South First.
“We are now getting moisturisers and sunscreen lotions that are to be applied daily. Also, the doctors have informed us that ultraviolet-resistant glasses have been ordered and that they will be provided to us on Monday,” Sudharani added, hoping that Deeksha need not always keep her eyes shut.
Dr Buggi said she would issue instructions to carry out a genetic study in these villages in collaboration with the medical college in Mysuru and the Indian Council for Medical Research. “It is imperative to study the occurrence of XP in these three villages. A genetic study would give a clear picture of the situation and it will be planned soon,” she said.
Villagers have been refuting the argument that consanguine marriages prevalent in the villages, especially in the Banajiga Shetty community, were causing XP, or chukki kayle (disease of dots), as they call the condition.
The condition appeared dot-like on Deeksha’s skin. (Chetana Belagere/South First)
Authorities sounded firm on their decision to get down to the root of the issue. “Dr Deepa Bhat and I had a discussion with the authorities in Chamarajanagar and suggested conducting a controlled study to know the actual reason behind this condition prevailing only in these villages,” Dr Chandrashekar told South First.
The genetic study would first involve about 100 random participants from Kuratti Hosur, Shettihalli, and Bhadrenahalli. “We will be checking the carrier status of these participants. Meanwhile, we will also choose three villages from the Gundlupete area, where no one with this skin condition exists,” he explained the plan.
“We will then compare the carrier status of people in consanguineous marriages and those who aren’t. This study will not only help researchers in understanding the condition better but also help us in creating awareness among the villagers,” he added.
The affected families thanked the state government for its efforts and intervention. They hoped that the government would continue to help them without abandoning them after a few days or months.
“The authorities have kindled a new hope. Till a few months ago, we were living in the shadows of despair, without even knowing the name of the disease that has affected my daughter. Thanks to South First, the government and officials now know about us and our plight. They are doing everything to take care of my child and four other children in my village,” Lakshmi said.
For Sudharani, the intervention came like a miracle. Like Lakshmi, she, too, was under the impression that a cure was asadhya (impossible). She now has a little hope to cling on.
“This is a miracle. I hope this will continue. The support of government officials and their dedication have provided us strength and hope. With the combined efforts of doctors, you (South First), and the government, we will fight this battle,” she said.
Meanwhile, the families have slowly begun to speak about the dangers of marrying within the community.
Xeroderma pigmentosa is an extremely rare autosomal recessive genetic disorder, affecting roughly one in a million individuals globally.
Explaining the condition, Dr Bhat, who works with rare diseases and sickle-cell anaemia patients, said individuals with XP cannot effectively repair DNA damage caused by exposure to ultraviolet radiation.
“As a result, even brief exposure to sunlight can lead to sunburns, freckling, and other skin changes. Over some time, repeated exposure to ultraviolet rays can cause significant damage to the skin, including premature aging, dryness (xeroderma), and pigment changes,” she told South First.
Dr Bhat added that one of the most concerning aspects of XP is the high risk of developing skin cancers, particularly basal cell carcinoma, squamous cell carcinoma, and melanoma.
Dermatologist Dr Srishti Betsurmath has seen two cases from these villages while working with the JSS Medical College earlier.
She explained that XP has eight genotypes. Each one has a different clinical presentation. A common feature is rashes. They usually have blackish hyper-pigmented patches on areas exposed to the sun.
A few of them affect the eye — the cornea, conjunctiva, and eyelids. They will have keratitis (inflammation of the cornea), photophobia, and extreme photosensitive skin and eyes. A few patients show central nervous system manifestations like intellectual disability, etc. Each complementation group exhibits different symptoms.
