Inadequacies in the care and support system of a devastating neuromuscular disease

K. Senthil loves watching television. At his home, there are constant battles with his older sister for the remote, and fights over what show should be watched. His favourites? Cookery shows.

Senthil, 16, has muscular dystrophy, a genetic disorder that weakens the muscles that help the body move. Over the course of about 10 years, his leg muscles have become so weakened that he can no longer walk. He uses a wheelchair, and his parents carry him when needed and help settle him in comfortable positions. Just over a year ago, Senthil's older brother Raja passed away because of the disease. Raja was only 18 years old.

“When the boys were born, there was nothing wrong with them,” says their mother, Durga. “Raja was in Class II, when he began to complain of leg pain whenever he had to climb stairs. At one point it became so bad that we took him to the Government Rajaji Hospital, where they told us it was muscular dystrophy. They then referred us to other hospitals to confirm the diagnosis.”

Even after the diagnosis was made, it didn't really sink in. “We didn't know what it was, had never heard of it and had never seen it before,” said Selvakumar, Senthil's father. “We figured we would get all the treatment possible and it would be all right.”

Muscular dystrophy refers to a group of genetic disorders. Some of these can affect adults, but the more severe forms tend to occur in early childhood. Duchenne muscular dystrophy (DMD), the most common form of the disease, primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle.

“The disease is usually first noticed when the child tries to walk. Parents come to us and say that the child has difficulty in walking or keeps falling down,” said Dr M Chandrasekaran, senior consultant neurologist at Ramana Hospital. “As the child grows, there is a gradual progression of the disease and the muscles of the body waste away. Mental function however, remains completely normal,” he said.

“By the age of about 12 or 13, the child has significant difficulty in walking and is generally wheelchair-bound. Children with DMD almost never survive beyond the age of 20,” said another Madurai-based neurologist. At present, there is no cure for DMD. The goal of treatment is to control the symptoms mostly through exercise and physiotherapy. “We do everything possible to give them a better quality of life,” said the doctor.

Selvakumar was then a daily wage labourer. Every day, the couple would take their first son to the hospital for physiotherapy. Raja's diagnosis had barely been confirmed when they realized that Senthil too had the same disorder. Raja managed to complete his fourth standard before dropping out, and Senthil did his third standard. Durga spent her days at home, looking after both sons.

“It became very difficult to send them to school. The more their leg and arm muscles weakened, the harder it became to carry them from place to place. Eventually we decided to let them stay at home,” she said.

At first, the family just didn't know how to deal with it or what to think. Durga's parents, however, thought it was somehow the couple's fault. “Even now, they tell me that it was because we took him to hospital that he developed this disease. They think that somehow, the hospital caused it and blame us for taking him. They say he was all right until we took him in and then he became worse,” she said.

S. Priya found out her son had muscular dystrophy almost by chance. When he was one, he fell sick and her mother, who was looking after him, took him to the doctor. While there, she mentioned that the boy was not crawling or trying to lift himself up as other babies did at his age. The doctor referred them to the government hospital, where muscular dystrophy was suspected.

“We had to go to NIMHANS (the National Institute of Mental Health and Neurosciences) in Bangalore for a muscle biopsy, after which the diagnosis was confirmed,” said Priya. Her husband, an air conditioning mechanic, was then in Malaysia. “I asked him to come back and we immediately started our son on physiotherapy,” said Priya. Nine-year-old Sanjay, her son, is like most other boys his age. Running around the room, playing with the stationery on her desk and shy of strangers, he smiles but does not say much.

When Priya found out all about the disease her son had, the grief was overwhelming. “In the beginning it was terribly difficult. I gradually came to realize that our family wasn't the only one suffering and that helped – to know there were others going through this and to derive some strength from there. But even now, there are nights when I lie awake and cry,” she said.

Sanjay goes to a local mainstream school that is aware of his condition and helps out whenever needed.

“It is important to send children with muscular dystrophy to school,” said M. Louis, founder of the Muscular Dystrophy Foundation of India (MDFI), an organization that works with families afflicted with the disorder. “Unfortunately not all mainstream schools are very cooperative. Every year during admissions we have to practically battle it out with school authorities to let the child be admitted. It is healthy for the child to go to school as they meet and interact with others their own age, gain an education and above all, get out of the confines of the home.”

Care and support systems are still inadequate and stigma still widespread. For the families, however, every day is a struggle as they try to wrestle with the progression of the disease and bring up their children as normally as possible. “In the end, we just do everything in our power to make them happy and comfortable,” said Louis.

(Some names have been changed to protect privacy)

SOME FACTS

* Muscular dystrophy refers to a group of genetic disorders in which there is a progressive weakness and degeneration of the skeletal muscles that control movement.

* It is estimated that there are around 6 lakh people in India who have the disease.

* DMD is estimated to occur in 1 per 3,500 live births the world over.

* Girls in these families have a 50 per cent chance of inheriting and passing the defective gene to their children.

* As of now, there is no cure. The goal of treatment is to control the symptoms.

* As it is an inherited disorder, prevention of the disease is difficult. Families with a history of muscular dystrophy are advised to get genetic counselling.

(Source: MDFI and Internet)

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