Battling SMA, one day at a time

Five-year-old Aarav Sharma is smart, high-spirited and talkative. He loves crayons and is often found scribbling in his sketch pad. When we visited him at his home in Kharghar, he greeted us with an endearing smile. As he settled to play with Lego blocks, his mother Alpana took us through his extraordinary life. Aarav has been diagnosed with SMA — Spinal Muscular Atrophy — Type II. A genetic disease, it causes progressive muscle weakness and affects his ability to walk, even stand or sit. Aarav wears body crutch-braces neck to toe to support his spinal cord and help balance his body.

Alpana says, “He was diagnosed with SMA when he was one. We were devastated, but my husband and I wrapped our heads around it and immediately began with his palliative treatment. There is no cure; all we can do is provide him with treatment that aids muscle building.”

SMA is categorised as type I, II and III and symptoms and differs for each. “For type II patients like Aarav, their lifespan depends on the kind of care that they receive,” says Alpana.

Patients suffering from SMA Type II require intensive care and support-therapies to stave off muscle weakness, shivering of fingers and breathing issues.

Aarav’s daily routine includes one-and-half-hour of physiotherapy followed by sessions of occupational therapy, spirometry test to check lung capacity, walking session on the reverse walker equipment, nebulisers twice a day to ease breathing, besides spending two hours on the stander equipment. Assisting Alpana during these sessions is Aarav’s caregiver maushi.

Alpana feels that getting the treatment is not as taxing as the lack of awareness and insensitive attitude of doctors in India. “I visited many neurologists in various cities. A top female neurologist in Ahmedabad told me that since ‘it’s a progressive disease and will eventually deteriorate his condition, why do you want to invest in this child?’ I was so shocked that this was coming from a doctor,” she shares.

The most common response that doctors give is that love and care is all that can be given to SMA patients. “We are aware that there is no cure, but as doctors, they are supposed to recommend a line of treatment and suggest equipment to deal with each symptom,” she says.

Heart-breaking responses from several doctors compelled Alpana to conduct intensive research on SMA. She realised that there wasn’t any database or help groups in India, not even an official estimate of people affected by it. During her research, she came across a Bengaluru-based NGO, Organisation for Rare Diseases in India, who helped her a lot, she tells us. In a bid to do something for caregivers and paitents, she set up Families of Spinal Muscular Atrophy India. Her NGO has helped bring 45 families affected by SMA on a digital platform. A closed facebook group provides these families the emotional support they need. Members discuss research articles, answer queries of other caregivers and share tips. The NGO also had its first regional meet in Mumbai in January to create awareness and exchange information.

It was through the group that Alpana also learned of a clinical trial of a drug for SMA Type I in the US, which was approved by the FDA in December 2016. The drug can improve the condition of the patients and needs to be administered lifelong.

“This drug is currently available only in the US. For the first year of treatment, it costs around Rs 12 crore and the following years it will cost up to Rs 5 crore annually. Even if this drug is made available in India, how can anyone afford this?” For now, Alpana says, the battle continues, until treatment and drugs are made available at affordable rates.

SMA DETECTION

One in 40 people in India carry the SMA gene, and if both parents are carriers, then there’s 25 per cent chance that child may get SMA. A pre-natal scan can be done after five weeks of pregnancy to confirm if the foetus would have SMA.

MAKING KNOWN

Rare Disease Day is marked across the globe on the last day of February each year to raise more awareness on various rare diseases.