NEW DELHI: Urging the centre to include the Huntington’s disease (HD), an inherited genetic disease that causes nerve cells in the brain to decay over time, under the National Policy for Rare Diseases, experts on Friday said, this will ensure that people living with this disorder would be able to avail timely diagnosis, affordable treatment and medical care.
As there is no data on the number of people suffering from this progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability, there is an urgent need for a national registry, which also protects the identity of the patient, they added.
“The first battle for those suffering from HD is getting recognition from the government under the national policy for rare diseases. This acknowledgement will solve some of the problems of the patient and their caregivers, who often face discrimination and stigma,” said Dr. Sanjeev Jain, Emeritus Senior Professor Psychiatry, NIMHANS, Bangalore.
“The government’s rare disease policy is focused on children. But in the case of HD, it is an adult onset disorder, which affects all body parts. Most people show the symptoms in their 30s and 40s. Once the disease is recognized under the rare disease policy, they will be able to avail government subsidies for their treatment. Routine treatment will not be denied to them,” Dr Jain said at a day-long HD awareness and meeting here organized by the Huntington Disease Society of India (HDSI).
He said once the disorder is recognized, insurance companies will be able to offer medical cover to people suffering from this neurodegenerative disease.
In India, the prevalence is not clearly known, but may be about half of that in Europe (5 in 1 lakh), he added.
Dr Jain said slight intellectual changes are often the first signs of cognitive disturbance. “The first common psychological symptom associated with HD is depression. This can both be a symptom or a reaction to the realization that their activities and thinking are not as they were before," Dr Jain, who has treated 200 HD patients in 15 years, told this paper.
The other symptoms are reduced ability of coping with new situations or performing routine tasks. Also, they could lack awareness of their behavior and abilities, slow in processing thoughts or ‘finding’ words and facing difficulty in learning new information.
“There is no cure for the disease at present. There is no treatment evolved as yet to stop, slow or reverse the progression despite research for the past at least 30 years or so since its causative gene was discovered in 1993. We want the government to recognise HD in the national policy. This is the first step," said Venkateswara Rao Koushik, Chairman of HDSI.
He added that the burden of the disease is not only felt by the patient and their family but also by the community as a child of an HD affected parent has a 50% chance of inheriting the disease. “As it is an inherited disorder all those directly blood-related may have a chance of sharing the genetic risk,” said Koushik, a scientist with the Bangalore-based Aeronautical Development Agency (ADA), who is taking care of his bed-ridden wife, a brilliant mathematician at one time.
According to Dr Arpit Agarwal, Director, Medical Affairs, EMMES CRO, there is a need to set up an autonomous rare disease institute, which focuses especially on research, training and creating awareness about rare diseases in the country. "There is not much awareness about rare diseases, especially HD."
Dr Hemlata Bhatia, VP, Genomics, Agilus Diagnostics, said even doctors are not aware about HD. “The sensitisation about rare diseases, including HD, should begin from MBBS courses. Many medical interns are not even aware about genetic testing or even about the technical words.”
Anil Raina, ex-general manager (speciality care), Sanofi, said, “The actual number of people suffering from HD is not known. Diagnosis is a major challenge. As it develops at a later stage, most people are not able to realize what has happened to them. Diagnosis is thus delayed."
According to WHO, rare diseases, which are often described as ‘orphan diseases’ are debilitating lifelong diseases or disorders with a prevalence of 1 or less, per 1000 population.
India has come out with the National Policy for Rare Diseases (NPRD) 2021. Under the policy, the centre provides financial and technical support for the treatment of 63 identified rare diseases in India. The key features include financial assistance of up to Rs 50 lakhs per patient for treatment at the 15 designated Centres of Excellence (CoEs), including AIIMS, Delhi.
