The family of a patient with Huntington’s Disease (HD), a rare inherited disorder that causes progressive neuro-degeneration, donated her brain to NIMHANS for research last week. Doctors said this is the first brain donation at NIMHANS of a patient with HD.
The adult-onset disease attacks areas of the brain that help to control voluntary (intentional) movement, as well as other areas. People living with HD develop uncontrollable dance-like movements (chorea) and abnormal body postures, as well as problems with behaviour, emotion, thinking, and personality.
The family of the deceased patient Meenakshi said life was normal for her, a bank employee, till the onset of HD was clinically diagnosed in June 2010. “She continued to work till February 2017 after which she was unable to function effectively and was convinced to take voluntary retirement. This was after serving the bank for nearly 30 years. This impacted her mental status and her health deteriorated,” said her husband Gopal K.
“During one of her follow-up visits to NIMHANS, she expressed her desire to donate her brain for research. We donated her brain to honour her desire,” he said.
Prevalence
Sanjeev Jain, Emeritus Professor at NIMHANS, said the prevalence of HD is four to six in every lakh population. “It is an inherited disease and the worst part is there is a 50% chance of it being passed on to children, if one of the parents carries a copy of the defective HD gene. It usually hits people in their 30s and 40s just when they have settled into their careers and started their family life,” he said.
Meera Purshottam, Chief Scientific Officer at the Molecular Genetics Laboratory in NIMHANS, said the first brain donation of a HD patient is a good beginning. “It is important to study the changes that exist in the brain of a patient who has suffered the disease and how it is different from a normal brain as a person of that age,” she said.
“We have a brain bank at NIMHANS and brain tissue is stored from different disorders, accident cases that are made available to anyone to do research. While we will not be able to do any research with tissue from just one HD brain, this donation will help other patients realise the importance of research,” Dr. Purshottam said.
Suvarna Alladi, Professor of Neurology at NIMHANS, said, “Even now, investigation such as scans is not advanced enough to know what is happening in a person’s brain. HD patients have a progressive deterioration and there is no cure as of now. There is a need for research to find cure for the disease and this is why this brain donation is invaluable,” she said.
Not classified as ‘rare’
Asserting that the government should recognise HD as a rare disease, Nikhil Ratna, who is the vice-chairman of HDSI, said, “Caregivers have a huge burden. As such patients will require multidisciplinary care and palliative care at the end stage, palliative care facilities with multidisciplinary doctors under a single umbrella should be made available as in the Western countries.”
Venkateshwara Rao Kaushik, whose wife is bedridden with HD, said the government should cover HD patients under Ayushman Bharat Arogya Karnataka health scheme.
Acknowledging the issues, State Health Commissioner Randeep D. said challenge still remains in getting it designated as a rare disease. “A high level meeting was recently held by the Union Ministry of Health and Family Welfare and we are still not sure about the outcome. If there are some approvals from the Union Ministry, the State can take over,” he added.
