Xeroderma Pigmentosum: Govt sets ball rolling, sends medical teams to families facing genetic condition

The team interacted with Savitha, a 13-year-old XP patient, and her family, checked her medical records, and recorded details of her condition. The visit has provided a ray of hope to her, and others with the same condition.

The experts also visited two-year-old Deekhsa at Bhadrenahalli village, 4 km from Savitha’s residence. A separate team visited the families of three other XP patients — Naveen, Nagarjun and Heishika — who have migrated to Bengaluru in search of livelihood.

Xeroderma Pigmentosum is a genetic condition characterised by extreme sun sensitivity, leading to a very high risk of skin cancer and other medical problems. The affected children were forced to stay away from the sun, and the villagers believed that none of them would live beyond 18 years of age.

The medical teams’ visits have sent a message — loud and clear — to the infected children and their parents that they too count, and they are not alone.

Commissioner of Health and Family Welfare D Randeep instructed the medical officers to visit the patients and file a report.

“After seeing South First‘s reports, I instructed the district health officers of both Chamarajanagar and Bengaluru Urban to visit the homes of these children, understand the gravity of the situation, and initiate further necessary actions. The teams have done so. A report from them is awaited,” the commissioner told South First.

Light at the end of tunnel

Savitha’s father Basavanna was upbeat. “A team of doctors came to our house today. They saw my daughter, took details of her condition, saw her medical records and asked whether anyone else in our family had such a disease,” he said.

Medical team visiting Savitha’s family in Kuratti Hosuru. (Supplied)

“They even instructed Savitha to wear full-sleeve dresses, as she refuses to wear such clothes. They even spoke of some tests. We are happy they came,” the man, who looked downcast and resigned when South First visited his home earlier, added.

Dr Chandrashekar P, Chamarajanagar District Leprosy Officer and Nodal officer for Hanur, and his team visited the families in Bhadrenahalli and Kuratti Hosuru villages. The official said he was unaware that a cluster existed in these villages until he read the “heart-wrenching” reports by South First.

“We didn’t know that there was a cluster in these villages. We realised that the villagers are aware of the condition, though they do not know its name, they know its symptoms, future of the patients, etc, as they have seen other similar cases in the village,” Dr Chandrashekar, who spent more than five hours in the village, said.

The villagers call the condition chukki kayle — or the disease of dots.

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Family tree to trace carriers

Dr Chandrashekar said they found two patients with this condition currently residing in Bhadrenahalli and Kuratti Hosuru villages. Detailed family trees of both families were made, he explained.

Doctors speaking to Deeksha’s mother Sudharani and examining Deeksha in Bhadrenahalli. (Supplied)

“In Deeksha’s case, we found that the husband and wife were not related and had married out of their families. While Deeksha’s mother Sudharani nor her husband had any family history of XP cases, Sudharani’s elder sister Priyanka’s two sons had died of the same condition,” the official shared the team’s observation with South First.

“Priyanka was married to her aunt’s son and. Notably, Priyanka’s husband Shankar’s sister, too, had also died of the same condition. But this case needs more investigation,” he added.

Consanguineous marriages are believed to be the root cause of the condition, though the villagers have been vehemently denying this.

Heishika’s father Praveen Kumar said a medical team, including a lady doctor, visited his residence in Bengaluru and spoke to his wife and daughter.

“They took note of her daily schedule and medications/lotions that are being used to manage her condition. They even sought all medical reports,” he added.

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Financial burden on families

The Health Department officials said their objective is twofold: To gain a deeper understanding of the circumstances surrounding these cases, and to extend empathetic medical support to the families bogged down by XP.

Experts recommended Savitha’s family to consult an ophthalmologist. (Supplied)

The officials also tried to understand the reasons behind the consanguineous marriages and how awareness about the dangers of this can be created among the villagers.

Dr Chandrashekar said the district health officer in Chamarajanagar has been informed of the need for conducting genetic tests on both patients. Also, a carrier test has to be done for Basavanna and Lakshmi — Savitha’s parents — and Deeksha’s parents, Sudharani and Mahadeva.

The tests, the doctor explained, will help in identifying the sub-gene that has affected the patients and also to decide the way forward to prolong the longevity of these patients.

This condition has different types, represented by letters A through G, plus an extra variant called XPV. About 90 percent of XP cases fall in Groups A, C, D, and XPV.

Though the medical team strongly recommended genetic and carrier tests, there is a catch.

“The genetic tests are expensive. The families may not be able to afford them. It would be helpful if the state government can bear the cost,” Dr Chandrashekar suggested.

Heishika’s father Kumar said he had paid ₹25,000 for the gene test in a Bengaluru laboratory. The child has the C variant, the result revealed.

Dr Deepa Bhat, Genetic Counsellor at JSS Medical College in Mysuru, also recommended the tests. She said that all Banajiga Shetty families residing in these villages — to which all the children belong — should undergo genetic tests to see if they are carriers. Consanguineous marriages are common among the Banajigas.

Besides Kuratti Hosuru and Bhadrenahalli, a few children at Shettalli village, too, had died of this rare genetic condition.

“This is the only way to prevent such rare diseases from occurring. Once you know their carrier status precautions can be taken during pregnancy. If the health department intervenes now we can stop this disease from occurring in the next 25-30 years,” Dr Bhat told South First.

However, the financial burden associated with genetic testing may prove to be a significant obstacle for the affected families. Acknowledging the challenge, health officials are urging the government to bear its cost.

By providing this crucial financial assistance, the government can alleviate the burden on these families and contribute to a more comprehensive understanding of the disease’s prevalence, experts said.

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The Dept of Health, on priority has sent a team of district level experts and officials. Visit, survey and medical examination of children done followed by educating parents & caretakers of this condition. Continous follow up will done. https://t.co/ejOZzJxQKf pic.twitter.com/ZaOjAn39bW

— Office of the OSD to CM Karnataka (@osd_cmkarnataka) July 27, 2023

Cancer tests

Meanwhile, the teams have also suggested further blood tests to check the possible occurrence of carcinomas in these five patients. Dr Chandrashekar said Savitha seems to have developed ulcers in the eyes too. She will be taken to an ophthalmologist, he said.

Health official at Heishika’s residence in Bengaluru on Thursday. (Supplied)

“The family has been visiting an Ayurvedic hospital in Mysuru to treat her eye condition. We convinced them to visit an ophthalmologist,” the doctor further stated.

“Though we have told her family that Savitha’s condition cannot be cured, we informed them that her life could be prolonged by taking certain precautions. We will also be conducting some blood tests to see if any carcinomas are present in her,” he said.

Meanwhile, in Bengaluru Urban, District Health Officer Dr Ravindranath Meti’s team met the patients and their families. “We are taking it a little slow. Parents may panic if we do everything in one go. There will be multiple visits to the families,” he told South First.

“This condition cannot be cured but we are trying to see how best we can handle it and also create awareness on prevention, besides managing the condition of the children,” he said.

The mental health of both patients and caregivers, too, is of utmost importance. A first-level counselling has been provided on Thursday. The authorities have promised multiple visits to the families for further follow-ups. The community, too, will be counselled.

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Officials to hold awareness camps

Meanwhile, the officials also have plans to conduct awareness camps in the three villages. “There is a huge number of consanguineous marriages taking place within the Banajiga Shetty community. It is not easy to stop it,” Dr Chandrashekar said.

Medical team from Bengaluru Urban at Naveen’s residence. (Supplied)

“They are aware of the dangers but are not convinced as this practice has been continuing for generations. However, awareness camps to inform them of the condition have to be held,” he asserted.

The officials said they will also consult Dr Bhat for further intervention and genetic counselling. The Health Department officials have also made a list of children with XP, and those who had died of the same condition.

Meanwhile, Dr Akhil Raj, Neurosurgeon at Nonpareil Centre for Neuro and Psychosomatic Development said he has been working with two of the XP-affected children, along with Assistant Researcher Susan Angela Rowe, associate professor in psychiatric nursing. He sounded optimistic.

Dr Raj recommended Ayurveda for stabilising and detoxifying the body. “A combination of Ayurvedic and allopathic medication can yield the best results and we are hoping to reverse this condition in two subjects we are treating now,” he said, without identifying the patients.