Dr B Thomas (Special correspondent)
H
untington’s disease (HD) is one of the ‘rare’ genetic diseases,and is estimated to affect 5-10/100,000 in India (about 0.5-1 lakh affected; and many more ‘at risk’).
Records from NIMHANS alone has 300+ families of which 137 are from karnataka.
Huntington’s disease most often begins in adult life, and is a progressive,neuropsychiatric genetic disorder that is passed down across generations.
It causes the gradual malfunction or death of neurons (nerve cells) in the brain.
This loss of nerve cells results in dancing jerky movements (referred to as chorea),behavioural problems including suicidal tendencies,loss of memory and skills.
Loss of brain cells do not cause death directly; death often happens secondary to suicides, bleeding in the brain due to falls,slipping food into windpipe causing pneumonia etc.
There is no cure for the disease but symptomatic treatment across the domains improves the quality of life and regular follow-ups from initial stages of the disease can help to retain functionality in many cases.
HD can occur in children,referred to as juvenile Huntington’s disease and is much more severe and debilitating than the adult form.
Loss of livelihood,lack of mandatory genetic counseling before testing, high costs of treatment,lack of multidisciplinary care,lack of easily available prenatal diagnostics to prevent the transmission of disease to progeny,lack of palliative care facilities for terminally ill patients, exclusion from health insurance coverage, omission in national rare disease policy-2021 are some of the burning issues for the HD community in India.
Lack of awareness about the disease underlies many of the problems faced by the HD community.
Families provide most of the care,from providing emotional support and arranging medical consultations,to looking after the patient when they are completely disabled.
There are many families with the illness where ignorance and stigma has led to social exclusion.
There are also families who are highly educated but are confused about how to deal with the illness.
The Huntington Disease Society India (HDSI) is an organization initiated by family members of those with Huntington’s disease, with the support of clinicians,to help families deal with the disease.
HDSI in association with department of health and family welfare GoK is organizing illumination of Arogya Soudha as a part of global campaign called lightitup4HD.
This is to symbolically show solidarity with patients and caregivers fighting this devastating disease and to build awareness about HD.
Blue color codes for adult onset HD whereas purple for juvenile HD.
minister for Health and family welfare services, GoK,Dr K Sudhakar and Commissioner of health and family welfare services (GoK),D Randeep,will grace the occasion and interact with HD community.
On this occasion,a memorandum of unmet needs of HD patients will be submitted to the minister by HDSI members requesting the intervention of GoK to address the most pressing needs of HD patients such as setting up palliative care services and inclusion in the national rare disease policy.
Through this event,HDSI hopes that a message to stand with HD affected families and be empathetic towards their needs will be sent to the general public,health care professionals and policy makers.
