Since her childhood, Odissi dancer Daksha Mashruwala knew there was a medical condition running in her family. Her maternal grandmother developed difficulties in her movements and was eventually bedridden.
Some years later, her mother developed a similar problem and soon they knew it was a genetic disease. Eventually, her aunt and uncle showed the same set of symptoms and Daksha’s two sisters too developed it. Later the enormity of the condition also known as Huntington’s Disease characterised by physical and mental deterioration, dawned on them.
Daksha says, “Till my younger sister took it upon herself to research and dig deep into it, we only thought about it as something like Parkinson’s Disease. All through these years, we had discussed the condition with another family where there were people with the same set of symptoms — losing the ability to speak, swallow and comprehend.”
Mumbai-based Daksha and her family’s experience with Huntington’s Disease (HD) is not very different from that of Venkateshwara Rao Koushik’s. A scientist in Bengaluru, Koushik is taking care of his wife who is bedridden.
Diagnosed with HD almost 8 years ago, her treatment includes deep brain stimulation and medication that only curbs movement problems, he says he is still in the dark about the exact treatment procedure to be followed. He says, “She had difficulties speaking initially and I slowly saw her condition become worse and today her movement is completely restricted and she needs help round the clock.”
Huntington’s Disease is a genetic neurodegenerative disorder that surfaces when the person is in the prime — between 30 and 45 years of age—with neuro and psychiatry symptoms. Affecting two or three in 1,00,000 population, it is considered a rare disease, but the condition becomes complex as by the time it is diagnosed, the likelihood of it being passed down to the next generation is high.
Poor understanding and limited treatment options
Daksha adds that practitioners are unable to guide patients to the required specialists due to lack of awareness and knowledge.
Dr Sanjeev Jain from the Department of Psychiatry, National Institute of Mental Health and Neuroscience (NIMHANS), says that unlike in an epidemic that rapidly takes over the system. HD makes a person wither away slowly over the years. It requires neuro and psychiatric help to treat and manage the condition.
“The patient here suffers due to lack of care and so do their families,” he says. In order to understand the condition and treatment, NIMHANS is hosting the first-ever conference in Bengaluru on August 16 and 17 where the caregivers and families of those afflicted with the condition can share their experiences.
The inaugural national conference on Huntington’s disease will bring families together, doctors in India and abroad to touch upon treatment guidelines, diagnosis, the importance of genetic counselling and research, apart from patient’s perspectives.
Dr Jain adds, “We have to keep abreast with what is happening around the world when it comes to the treatment of the disease. Globally people have been making efforts for social welfare care along with medical care for such patients. European countries have a registry for people living with the same condition so that they can have related medical plans. We do not even have an insurance plan for them here.”
Daksha’s family wants to talk about the condition, but they had to deal with the consequences of it. She says, “We have problems like finding an alliance for my niece, as everyone backs off when they come to know about the genetic disease running in the family.” However, that hasn’t stopped them from reaching out to the community who are undergoing the same ordeal. “We need to talk about it because if the educated and cultured won’t, what will the uneducated and those with least access do?”
Dr Jain says that family groups can put a lot of pressure on the government to take cognisance and work out a road map. “That is exactly how the West has responded to the needs of those living with the same disease,” he adds.
Medical trials by Roche and Uniqure developing a gene therapy for HD, offers hope for families like Daksha’s and Koushik’s.
Koushik says, “I have now been seeking treatment for her in private hospital, while she also undergoes physiotherapy. I hope someday in India, there is a well-developed system of care and guidance for this.”
The Huntington Disease Society India will also discuss roadmap for the coming years at the conference.