Fans were shocked when actor Samantha Ruth Prabhu revealed in October that she had been diagnosed with myositis―an autoimmune condition that causes inflammation of the muscles. “Some days, getting up from bed is difficult,” she said. “It is draining and tiring. I've always been a fighter and I will fight.”
As 'get well soon' wishes poured in from around the world, people also started looking up the relatively unknown disease. The internet was awash with articles on the 'ifs' and 'buts' of the affliction and how one can deal with it.
What most people still don't know, however, is that myositis is not exclusive to adults. When it occurs in children, the condition is called juvenile dermatomyositis (JDM). And though it is usually cured by timely diagnosis and treatment, the former is absent in many cases.
In 2015, Gayatri Ravi, 12, went to Kochi's Amrita Hospital. Extensive calcium deposits had affected her knee joints and she was unable to stand upright. She had been diagnosed with JDM when she was four, but her family did not seek proper treatment. After seven years of subpar treatment and then a stint with ayurveda, Gayatri's condition got worse. Only then did she go to Amrita.
“It has been a real battle to manage Gayatri's condition,” said Dr Suma Balan, paediatric rheumatologist at Amrita Hospital. “We wanted to treat her aggressively, but her bone structure was poor. Physiotherapy was done, but we wanted to do surgery to at least improve her present situation. But her parents were too apprehensive to consent. If the acute phase is not treated properly, there will be deposits of calcium under the skin (calcinosis). This leaves swelling throughout the body, which can develop into lesions and even leak―it is a very traumatic condition.”
In a similar case, Anjali, 13, was diagnosed last year with alopecia areata, an autoimmune disorder that causes patchy hair loss. In certain cases, say doctors, this could be one of the symptoms of myositis. Later, she got fever and muscle aches as well. It was only about eight months later that JDM was detected. A week after treatment started, Anjali's pancreas was affected, which complicated her path to recovery.
Gayatri would not have been crippled and Anjali could have recovered completely if the right diagnosis had been made and the correct treatment given.
JDM can be detected by muscle enzyme testing, myositis antibody test and MRI. Treatment is decided based on the severity of the illness. “We use steroid-based medicines that vary between mild, moderate and severe,” said Dr Sujata Sawhney, paediatric rheumatologist with Sir Ganga Ram Hospital, Delhi. “Methotrexate is also commonly used moderately. We design the protocol for each patient based on his or her condition.”
The underlying causes of JDM are varied. Primary pathology, say experts, suggests that it is caused because of inflammation of the vessels that supply blood to the muscles. “It is not clear and we do not have a definite answer. Many viral diseases also trigger myositis,” said Sawhney. “Autoimmune diseases mostly occur in those who are predisposed genetically; some environmental factors also trigger this. Most of the cases are due to multi-factorial reasons. There is no particular gene or single trigger that causes these diseases. More than 50 per cent children get monophasic (only one episode of inflammation in the nervous system) illnesses. If the child is treated from the age of five, recovery can be successful. Only a very small proportion develops into malignancy in adulthood.”
Treatment might cost Rs1,000 a month for mild cases, but that might go up to lakhs of rupees in case of complicated cases with hospital admission.
Symptoms can vary from child to child―skin rashes, muscle weakness, hair loss and multi-organ involvement are reported in many cases. Due to the nature of the symptoms, the seriousness of the condition goes unnoticed in most cases.
If JDM affects other organs, it can even be fatal. Severe muscle weakness can affect respiratory muscles, restricting the swallowing capacity. Some aggressive methods of treatment can also lead to secondary infections.
“Awareness about this disease is extremely poor,” said Balan. “We get new cases every year. Around 50 patients are being treated here at present. It is more treatable in children. In adults, more cases have been observed around the age of 40.”
There are some important differences between the disease in children and in adults. “In adults, we always look for an underlying malignancy or tumour, which is rare in children,” said Sawhney. “Second, antibodies detected during blood tests may indicate different conditions in adults and in children. A particular myositis antibody in a child would indicate that she would have a serious skin disease, while the same antibody could suggest a higher incidence of an underlying malignancy in an adult.”
The study on the disease is limited in India. “We do not seem to have registries to record these kinds of diseases,” said Dr Joe Thomas, rheumatologist, Aster Medcity, Kochi. “A specialist rheumatologist should be approached for treatment. Other specialists such as paediatricians and neurologists may not be aware of the complete treatment protocol. Also, by switching to alternative medicines, the initial phase of treatment itself becomes improper, which can lead to long-lasting complications.”
The disease is sometimes found in toddlers, too. And it is difficult to diagnose as they may not complain of any symptoms. In such cases, diagnosis is done by observing their activities.
“In most cases, skin rashes are the only visible symptom,” said Balan. “With the use of mild steroids the symptoms will subside; but that is the hidden danger. The net result would be a delay in diagnosis. In extreme cases, the disease can affect other organs. Last year, we lost a child whose pancreas had been severely affected. Now we have an 18-month-old on ventilator with severe muscle weakness.”
In cases where skin issues and muscle weakness occur simultaneously, it gets easier to diagnose. However, if the muscle weakness predates the rashes, the disease becomes harder to identify. “The reasons for muscle weakness can be many,” said Sawhney. “The disease being too rare, even experienced paediatricians may go wrong in diagnosis. This, in turn, causes delay in commencing the correct treatment.”
Sometimes, children can also present with rapid lung inflammation, making diagnosis even tougher. Abdominal complaints and convulsions are possible, too. Unusual presentations such as these also delay the diagnosis.
The most important part of any disease management, say experts, is diagnosis. “I had a 16-year-old who overcame the condition with the right treatment at an early stage,” said Thomas. “She was diagnosed in the initial phase of the illness, probably in the first three weeks. Now she is off her medication.”
Perhaps one can take solace in the fact that the disease is rare. One in a lakh children gets it, said Sawhney. “Having said that, our unit has followed up with 80 to 100 children with this condition over the past 20 years,” she said. “Over the years, paediatric rheumatologist centres have been set up across India, and more and more children are getting diagnosed correctly.”