NEW DELHI: A curious case from Punjab has rattled not just Kuldeep Kaur and her family but even the experts who have been striving for over a year to solve her case. Kaur, a 32-year-old mother of two, was living a healthy life till September 2011 when she suddenly developed memory loss. She stopped recognizing people, forgot meals and became urinary incontinent — a pattern observed in her family including her father, grandfather, great grandmother and several other blood relatives.
Kaur had been suffering from an extremely rare disease called familial Alzheimer's that runs into families. This was declared two days ago in a genetic test conducted by a research group based in France.
"This is the first time we have come across any such patient. Her 26-year-old brother had approached us two years ago for genetic testing, fearing that he might also suffer from the same fate as his family members. We did some testing but the mutation in gene could not be identified. Finally, a research group in France offered to do the genetic testing for free and the results came in," said Dr Sunita Bijarniya Mahay, metabolic physician and geneticist at the Center of Genetic Medicine, Ganga Ram Hospital.
Now they will do predicting testing on the brother and Kuldeep's blood relatives, Dr Sunita said, to rule out or confirm the possibility of mutation of the same gene in them. "Though there is no cure for familial Alzheimer's, the tests would help them beat the angst. We can also try to manage the positive cases using best post possible medical intervention," she added.
According to Harmohan Singh, Kuldeep's brother, most of their family members could not survive beyond 50 years. "We always thought it was a family curse and would lead to the extermination of our whole generation. But the finding of the gene responsible for the deaths has given us new hope," he said. Singh was eight when his father passed away due to the same disease.
"Kuldeep's condition is also worsening each day. She has developed urinary incontinent and has become very weak. Her children have been the worst sufferers of the tragedy and no one knows what future they have. We are poor and it is really difficult for us to even think of getting the tests done on each family member," he said.
According to Dr I C Verma, director of the center of genetic medicine at Ganga Ram Hospital, India has the largest number of patients having genetic disorders because of large number of births (27 million per year), consanguineous marriages (within relations), high frequency thalessemia and sickle cell disease.
"Prenatal genetic testing, which can help in timely identification of these risk factors, is available at most centers in India. We are now trying to acquire high-end services like Microarray Analysis that can analyse the minutest change in chromosome and next generation sequencing to multiple genes for possible mutation in one go.
"These new technologies will lead to the identification of the cause of intellectual disability, muscle weakness , brain disorders and many other genetic disorders. This will also lead to the development of newer therapies," he said.
Punjab family ravaged by Alzheimer’s banks on gene test
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Punjab family ravaged by Alzheimer’s banks on gene test
