Coping Against Hope

Have you ever thought what it's like to be born with a death sentence? The helplessness of watching your child slowly waste away, fighting to keep him going for a wee bit longer, day by day, breath by breath…

While most of us are fortunate enough to be gifted a sizeable lifespan at birth, there are a few who are born with just a number of years to their credit, 25-30 years at the most, courtesy a rare disorder called Duchenne Muscular Dystrophy.

Also called DMD for short, the disorder is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. In the absence of this key ingredient, the daily wear and tear of muscles cannot be repaired. Also, there is a progressive weakening and degeneration of muscles leading to the loss of functions of various body parts and eventually death.

Mother's Recipe

Ruchika Batra is one such parent who is tasked by fate to nurture such a child, as precious to her as he is fragile. It is a little hard to imagine the travails of this family as her little five-year-old son Adrith sits playing with his toys in their cosy Colaba apartment, demanding why a particularly sturdy looking red toy car wouldn't break even after banging hard on the floor several times!

However, behind the veneer of normalcy lurks an air of constant vigilance in the household as Adrith's parents remain on high alert for the slightest sign of deviance in his gait and movements.

"DMD is not curable as yet but the debilitating effects of the disorder can be lessened by early detection and proper care," informs Ruchika. A working mother, Ruchika marries regular physiotherapy sessions and medical check-ups for Adrith in her schedule apart from running a support group for families with similar children.

"The primary aim of my group is to create awareness about the disorder, as not just the general public but even the medical fraternity in our country have very little knowledge about the condition," says Ruchika, who spearheaded the formation of Parent Project Muscular Dystrophy group about two years ago.

Hope Floats

Apart from education, awareness and support, Ruchika has delved into painstaking research on the subject of DMD and keeps thoroughly up to date regarding latest discoveries of curative measures for the disorder. "I am in touch with leading medical practitioners in the world in this field, so much so that am confident enough to say that if a breakthrough is made tomorrow I will come to know of it in 24 hours!" she says.

Hope floats for Ruchika and the likes of her as recently US researchers have created a working dystrophin gene without the DMD mutation and they are now testing its safety in a small clinical trail in boys with the disease.

"Our group, which now has some 25-30 members, is organising a workshop sometime in the next few months where we plan to invite leading international researchers and doctors working with DMD," says Ruchika.

On Guard

However, for the moment care and vigilance is all she can exercise to ensure her son continues to lead a normal life for as long as possible. "Even if Adrith limps a little one day, our guards are up," says Ruchika.

Though the gene-linked disorder is not curable as of now, early diagnosis and thereupon proper physiotherapy under a trained therapist acquainted with DMD and administering select steroids helps ensure that muscle degeneration is postponed. "It means a lot to a parent in this situation to ensure that their child can walk for a few more years," says Ruchika.

Her son attends a regular school and she advises the same for parents of other DMD children. "There is little loss of cognitive abilities. So it doesn't make sense to isolate an otherwise mentally sound child," says Ruchika.

A little More Empathy

However, she does wish Indian mainstream schools were more empathetic and supportive of DMD children and allowed them to be accompanied by aids in schools, a common practice in the West. For it is common for a DMD child to lose complete or partial mobility of his legs by early teens and take to the wheelchair.

"Sadly there is little infrastructural support or recognition of the condition in our country. Now some schools are allowing support for dyslexic children while writing exams, etc., and that too after the Aamir Khan starrer put the spotlight on the condition, but there is little support as far as DMD is concerned," Ruchika rues.

The angst of the mother is palpable when she alleges ignorance and apathy on the part of even the top medics in the country as far as DMD is concerned. "I have been told by doctors with fancy international degrees to their name on my face that my child is doomed. They just shrug, 'Inki to lifehi kitni hoti hai (they don't live for long in any case, so why bother)!" narrates Ruchika.

Since she keeps herself abreast of the latest medication and care available internationally, she has often had to "educate" doctors about "newer generation drugs" while they insisted on administering older versions to her son. "But I found that the same doctor advised the same old drug in spite of this to another parent of a DMD afflicted child from our group!" Ruchika exclaims.

The Trauma And The Fight

She has also had to fight her own emotions, rising from despair to determination to count her blessings. "It was very hard initially. There were days when I didn't want to wake up in the morning," Ruchika reminisces. "I couldn't look Adrith in the eye… But then you learn to live… I found strength in the support of my husband, my parents and in-laws. I especially remember these beautiful words which another parent of a similar child once told me: 'It's the same beautiful boy you had before he was diagnosed with DMD'."

Ruchika has also found moral strength in following Buddhism. "In this religion we say that if you want something really badly, believe that it has already happened. There lies the victory," she shares while looking fondly at her son, playing in the evening twilight.


 FACT FILE

• DMD is caused by a mutant X chromosome gene, passed on to a child by a carrier mother.

• The disorder afflicts one in every 3,500 boys.

• The disorder can only be passed by a carrier mother as the missing dystrophin protein is linked to the X chromosome.

• In the absence of this protein or muscle regenerating 'code' in the gene, muscles degenerate progressively. The disorder afflicts only voluntary muscles.

• Women can be carriers of the disease but are seldom afflicted themselves as they carry another healthy X chromosome. But in rare cases a girl may also be afflicted.

• A milder form of the disorder is called BMD or Becker Muscular Dystrophy where the gene generates some amount of the dystrophin. BMD patients can live up to late adulthood.

• DMD symptoms start showing between 3-7 years of age. Such a child's motor functions are delayed, he may appear clumsy and fall a lot.

• Leg and lung muscles are affected most. Wasting of lung muscles can eventually lead to cardiac arrest or heart failure.

• The child is most likely to need a wheelchair by the age of 12. DMD patients usually don't survive beyond the age of 25-30 years.

• Early diagnosis, proper physiotherapy and guided steroid administration are corrective measures to decrease muscle degeneration.

• Light, regular exercise is advised to keep the muscles agile.

• A low calorie, protein rich diet is advised.