BENGALURU: Gagandeep Singh Chandok has thalassemia and seen many of his friends die from this genetic condition. “Raj Kishore, Ali, Imran, Mona Lisa, Manjushree, Asma...”, he names them in his online petition asking the Government of India to develop gene therapy, which could save lives of people suffering from several rare diseases.
He writes that he and his friends were thrilled when the research into this therapy was first started in India, but Gagandeep says that it has come to a standstill from lack of incentives and support. He urges the medical community to restart this “critical treatment”.
Dr Vijay Chandru, chairman and managing director of Strand Life Sciences, says that the gene therapy may help treat rare genetic disorders because they can modify genetic code. Dr Chandru hastens to add that it is still in experimental stage.
Large Population Affected
While there is no reliable record of people living with rare diseases, Dr Chandru says that a large part of the population has genetic conditions. Of the 1,200 cases that his team had tested, over 60 per cent were genetic and neurological disorders, and about 180 cases were of skeletal issues and the rest skin diseases.
“Fifty per cent of genetic disorders have sympathetic symptoms - the ones that appear at infantry - and the other fifty per cent show symptoms over the course of life,” he says.
Principal Secretary to the Government Gaurav Gupta, ITBT, Science and Technology, estimates that nearly 7.2 crore Indians are living with a rare disease and “Karnataka has its fair share of perhaps 30 to 40 lakh patients”. He adds, “A drafting committee was appointed to formulate a policy for the state on rare diseases and orphan drugs.”
Vision Group of Biotech, headed by Kiran Mazumdar Shaw, is part of this committee and has recently submitted the Karnataka Policy on Rare Diseases to the state government. The policy aims to have an equitable and accessible health system and have in place best practices in diagnosis, care, treatment and management of orphan/rare disease patients in the state. Dr Chandru is also a member of the Drafting Committee and says, “At present the recommendations are under the purview of the state health secretariat and the team is working very closely to refine the policy for its implementation.”
In these recommendations as well, the committee has asked for more research into treatment methods.
Muscular Dystrophy
Ravdeep Singh Anand is aware that his son will not live for long. Affected by muscular dystrophy, a rare genetic disorder, his 16-year-old child Karanveer is confined to a wheelchair because of muscle weakening.
“When he was around 2, we noticed that he had difficulty in sitting up on bed or getting up from the floor,” says Ravdeep. “In March 2003, when he was a little over 2 years, he was diagnosed with muscular dystrophy.” Ravdeep’s family flew to the US for a diagnosis because “the technology available in India was not advanced enough”. The tests identified Karanveer’s condition as Duchenne Muscular Dystrophy. “DMD is caused by the absence of a protein dystrophin that helps keep muscles intact,” says Ravdeep. “It is the worst form of muscular dystrophy.”
As a child grows older, he loses his ability to run or climb stairs. It affects the entire body and functioning of all vital organs. In most cases, the child has a cardiac failure before he turns 25.
Ravdeep adds, “We got in touch with a paediatrician from Chennai in 2004 who suggested that Karanveer take steroids.” To date, there is no cure or treatment available for this condition. Therefore, Ravdeep quit his job and started the Dystrophy Annihilation Research Trust (DART) in 2012. Along with scientists and a few parents, he researches on therapies that can help treat children with such rare disorders.
His son undergoes physiotherapy regularly. Also, as he takes steroids, it causes side effects like mood swings and weight gain.
With Rare Diseases, Treatment is Rarer
Congenital Myasthenic Syndrome
Dr Rachna (name changed) may not be able to mother a child again. She had to terminate her second pregnancy at 18 weeks as a pre-natal genetic test revealed that the foetus also carried the same genetic mutation in the CHRNE gene as her first child Anjana (name changed). There was a 50 per cent chance that the foetus may also suffer from the same disease condition, called Congenital Myasthenic Syndromes.
Considering the well-being of the foetus, and the difficulty that he/she may go through while growing up, and various social implications, the couple decided to terminate the pregnancy.
Her daughter Anjana is five years old now. Dr Rachna says, “When she was a year and a half, the problems began. She was not able to walk even with support... When she was about four, she would collapse without reason. A neurologist then recommended a genetic testing.”
She can now walk with support and goes to school, says her mother. But, from this gene mutation, she can develop skeletal muscle weakness, respiratory issues, joint contractures, nasal speech and difficulties in coughing and swallowing. Spinal deformity or muscle atrophy may also occur.
Thalassemia
Namitha Kumar’s earliest memories have frequent hospital rounds and injections. Born in 1978, Namitha’s condition was not detected by any paediatrician in India. When she moved to London for treatment at the age of 3, she was diagnosed for Delta-beta thalassemia and she was put on blood transfusions.
Namitha says, “Because of the transfusions, I had to undergo iron chelation therapy as well. This left me susceptible to various infections.” The iron chelation took about seven to eight hours and this meant Namitha had less time with her friends. In college, she stopped going for chelation on weekends. “I did not tell my parents,” she says.
“My iron level shot up to 8,000 during the final year and my exams were nearing. I developed breathing problems and was put on IV for 10 days.”
She stopped menstruating and, when she consulted a doctor, she realised that the iron deposition had damaged her ovaries and her womb had become weak. “I had to start hormone therapy at the age of 26 or 27,” she says. “In 2007, I developed diabetes and had to take insulin four times a day. In 2016, I had a bike accident and fractured my right hip.”
That was the biggest turning point in her life. She took one year to recover. “I lost complete mobility,” says Namitha. “I joined online communities with other thalassemia patients across the globe and we became fast friends.”
Despite her medical condition, she went on to pursue her PhD in Disability Studies and Psychology from the National Institute of Advanced Studies (NIAS), Bengaluru. She is currently the Research Director at Centre for Health Ecologies and Technology (CHET).