Lajwanti Sharma, 50, of Solan in Himachal Pradesh, has no reason to smile. Her daughter Poonam, 26, can't smile at all. Her wasted facial muscles don't allow her to do so, neither to blink. Widowed at 40, Lajwanti has to literally struggle to be on her feet everyday. She suffers from muscular dystrophy (MD) as do three of her five children, including Poonam.
On the contrary, the Goyals, also of Solan, seem the epitome of a happy family. In spite of the fact that three of the elder Goyal children, now in their 30s, are afflicted with the same disease as Lajwanti. A genetic disorder that occurs due to an alteration in the concerned gene, MD affects muscle fibres and causes progressive physical weakness as muscle cells break down and are gradually lost.
When Raju, 12, of Sirsa, Rajasthan, didn't walk even at three, his parents took him to the doctor. He was diagnosed as being affected with a severe strain of MD that ate away at the muscles of the limbs. Three years later, a brother was born. His parents named him Lucky. It didn't help. Six today, he's been struck by the same disease that's taken the lifeforce out of the family.
The story doesn't end here. There's Suman, Ved Prakash, Mona and many more, all struggling to come to terms with MD. In India, more than one lakh children and adults suffer from some type of MD. About two-thirds among them are boys who have the severe Duchenne (dmd) strain. Based on current birth rate and lifespan of boys with dmd ('96 figures), approximately 68,000 boys in India are affected; one in 3,000 boys at birth have dmd, which means 10 boys with dmd are being born every day. The other most common type is the Limb Girdle Dystrophy (lgd) which strikes during adolescence. Then there's the two-pronged attack Poonam suffers from-lgd as well as facio-scapulo-humeral MD which affects the facial muscles and shoulders. Any kind of expression or speaking involves immense effort and she has to be carried around like a baby.
What's worse is that entire families are at times affected by this scourge. The victims in most cases are sentenced to a life confined to wheelchairs, followed by premature deaths, ignorance hastening the progress of the disease.
"Very few really understand or know about the disease,"says Sanjana Goyal, president of the Himachal Chapter of the Indian Muscular Dystrophy Association. "There is a lot of wrong diagnosis leading to wrong treatment."Affected since adolescence with lgd, Sanjana is at the helm of the drive to create awareness and provide support to patients and their families. Which is why for the past three years she and her band of enthusiastic volunteers have been organising what they call a 'picnic with a purpose'. This year's venue was Gaura village, 23 km from Solan. Once a Raj retreat for winter trout fishing in the Giri river, midsummer saw the tiny hamlet festooned with banners and bright marquees in an attempt to add a bit of colour to the otherwise dark days that most MD patients go through.
The camp at Gaura brought a lot of truths to light. Explains Dr I.C. Verma, head of the department of medical genetics at Delhi's Sir Ganga Ram Hospital: "Since there's no known cure at the moment, many doctors tend to neglect the patient. "Doctors admitted helplessness when Sanjana, 33, and two of her brothers, Vipul, 41, and Atul, 38, began to exhibit symptoms in their teens. Says Vipul: "I suddenly found I had difficulty walking. I developed this odd gait and soon noticed my siblings following suit."An athlete in school, he at first ignored his condition but a time came when he could in no way deny it. His legs began to weaken, the calf muscles hardened and the arch of his spine became more pronounced. He found it difficult to move without help, climb stairs or lift heavy objects. While the other three Goyal siblings have been spared, Vipul, Atul and Sanjana are well aware of the progressive nature of their disease and are fighting it by remaining active-each have their own businesses and work full time-going in for physiotherapy and doing as much as they can on their own.
Raju and Lucky haven't been as fortunate. Both their upper and lower limbs have wasted. Lack of mobility in dmd causes obesity and the chest muscles weaken, causing pneumonia and premature death. Says their father Roshan Lal, a prosperous goldsmith: "My children are more or less illiterate. No one wants to teach them."An early diagnosis could've saved their mother from having a second dystrophic child, for it's the X chromosome in the mother that carries the deviant gene; dmd thus affects only boys with the single Y chromosome rendered incapable of counteracting it.
Says Verma: "The MD gene is one of the largest in the body and few are aware that facilities now exist in India for prenatal dna testing. Unlike a few years ago when blood samples had to be sent all the way to London, today centres in Lucknow, Hyderabad, Mumbai and Delhi's All India Institute of Medical Sciences and Ganga Ram Hospital offer the services. One test can save generations from becoming carriers or victims of MD. The cost is Rs 3,000."
While dna testing for dmd, facial dystrophy and spinal muscular atrophy is now an established fact, diagnostic technology for lgd is still in its nascent stages. Both parents are carriers and therefore it affects the girl child as well. The good news is that there's just a 25 per cent chance of the child being afflicted, 50 per cent chances that the child becomes a carrier and a 25 per cent chance that the child is normal. Being a recessive gene, the children of the latter will be completely normal.
Intensive research is on, says Verma. Myoblast or muscle transfer has shown promising results. Normal muscle cells are grown and then injected into dystrophic muscles. Although this approach is a potential therapy for all MDs, the problem is the introduction of normal tissue into each abnormal fibre. It would take innumerable injections to restore the function of just one muscle. Verma therefore falls back on gene therapy, a curative tool he's heavily involved in developing. "The future,"he says, "lies in finding a safe and efficient way to introduce man-made dystrophin genes directly into the patients' muscles."
In the meantime, the Goyals are busy disseminating information on MD. "Most Indian families look upon it as a stigma and therefore the disease, instead of slowing down, progresses,"says Sanjana. R.K. Gupta from Rajasthan confesses that he's kept his 19-year-old daughter Mona's illness a secret. A BA student, Mona has stopped going to college although she can still walk, and stays at home mired in depression. "That's what shouldn't happen,"says Vipul Goyal, still standing tall at 41, even if he has to drag himself to work everyday and wince as he extends a stiff arm in a warm handshake.
"Once the diagnosis has been made,"says Verma, "the patient should keep exercising the muscles and go in for regular physiotherapy. In some patients steroids work towards slowing the disease's progress and arrests it for about 4 to 5 years."
More than anything else, a strong will and active lifestyle is the best way to combat this affliction. But there's hope today. Awareness among the medical profession is on the rise and early diagnosis can save entire families from being haunted through generations by this silent, painless killer. As for a complete cure, the new millennium may hold the answer.
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