NEW DELHI: Huntington’s disease (HD), an inherited genetic disease that causes nerve cells in the brain to decay over time, needs to be included under the National Policy for Rare Diseases to ensure that people living with this disorder avail timely diagnosis, affordable treatment and robust medical care, experts said.
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 of Psychiatry, NIMHANS, Bangalore. He said it at a day-long HD awareness and meeting here organised by the Huntington Disease Society of India (HDSI).
In India, the prevalence is not clearly known but may be about half of that in Europe (5 in 1 lakh), Dr Jain added.
“The first common psychological symptom associated with HD is depression. This can be both a symptom and a reaction to the realisation 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. “There is no cure for the disease at present.
No treatment has been developed to stop, slow, or reverse the progression, despite research over at least 30 years since the causative gene was discovered in 1993,” Venkateswara Rao Koushik, Chairman of HDSI, said.
“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 bedridden wife, a brilliant mathematician at one time.
According to Dr Arpit Agarwal, Director, Medical Affairs, EMMES CRO, there is a need to establish an autonomous rare disease institute focused on research, training, and raising awareness of 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 of HD. “The sensitisation about rare diseases, including HD, should begin from the MBBS courses. Many medical interns are not even aware of 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 later, most people are unable to realise what has happened to them. Diagnosis is thus delayed.” India has released the National Policy for Rare Diseases (NPRD) 2021.