What would you do if your child were struck by a strange illness and began to wilt before your eyes. An illness that few doctors understood, even fewer could treat, that most likely did not have a cure, and even if it did, you couldn’t afford it?
Faced by a parent’s worse nightmare come true would you cry your heart out? Curse your fate? Pray, pray, pray?
Prasanna Shirol and 14 other parents started what’s becoming a movement.
They didn’t know it at the time but in three years, this has grown to embrace nearly 500 families from all over India. Their group – the Lysosomal Storage Disorders Support Society (LSDSS) – is made up of parents and caregivers of children living with LSDs, a group of 45 congenital disorders. LSD sufferers lack enzymes that break down material in the body’s cells as part of a natural recycling process. This material piles up and deposits on vital organs and progressively debilitates the child- physically and mentally.
There are some treatments but the cost is prohibitive – lakhs of rupees every year for life. Nowhere in the world can individuals afford them – it is governments and insurers who pay.
“If we come together we can ask the government to fund awareness, diagnosis and treatment,” says Shirol whose daughter Nidhi, 12, suffers from Pompe’s Disease, a kind of LSD . “We can do some advocacy.” LSDSS observed Rare Disease Day yesterday in Mumbai where patients and their families got a chance to meet doctors and others like them.
What happens to children with LSD left untreated?
Consider Kunal Singh. He is nine but for his mother he might as well be one. He can do nothing by himself, she says. The disorder has impacted his mental faculties, his speech. His growth is stunted. It’s made him hyperactive – he can’t sit still. Recently, his parents were forced to pull him out of school. He also looks different – a prominent forehead, flattish nose unique features of MPS-2-affected persons.
LSD’s affect multiple organs and can lead to delayed developmental milestones, movement disorders, seizures, dementia, enlarged vital organs and sharply-reduced life expectancy.
There’s a reason why most people in India- including doctors – have never heard of LSDs. Their incidence is estimated to be one in 5000 live births or 0.02 per cent. A paediatrician can go through her entire career without seeing a single such case. Diagnosis, requiring specific genetic tests, is a major stumbling block.
Some LSDs have treatments where the enzymes are infused into the body. They are made by foreign biotech companies such as the US’s Genzyme (part of the Sanofi group) and Shire. Indian companies don’t make it as the market isn’t large enough to justify investment, say doctors.
At least one of these companies – Genzyme – has been treating kids for free in India under a global access programme but this comes with its own limitations. More on that later.
Kunal’s father Satendra, an assistant regional manager at a large agrochemicals company in Chandigarh says is that there is, indeed, a treatment for MPS 2. But if he were to import it from its maker Shire it would cost him Rs 80 lakhs a year for the rest of Kunal’s life. (Since dosage is dependent on body weight, the bigger the child the more expensive the treatment).
Satendra would gladly enrol Kunal in a trial for an experimental drug for MPS 2 but there’s none being tested in India right now.
Shirol’s daughter Nidhi is luckier that way. Just when doctors were giving up on her, Genzyme agreed to enrol Nidhi into its free programme for Pompe’s treatment Myozyme. By then the disease had done considerable damage – Nidhi is wheelchair-bound and she’s had a tracheostomy, a surgically-made hole in her windpipe as, at one point, she had been unable to breathe on her own. But she’s come as close as possible to leading a normal life -she goes to school, is a budding artist, and even flew down with her parents from Bangalore to Mumbai for Rare Disease Day.
Around 100 other families were also present.
Shirol is aware, even today, that he is dependent on Genzyme’s sympathy to keep his daughter in good health. For Myozyme is also hugely expensive. Some time ago, viral contamination at Genzyme’s US manufacturing facility severely impacted the supply of Cerezyme, a treatment for Gaucher’s disease which is also a type of LSD. Doses were rationed.
Even otherwise, Genzyme is extremely careful while giving away free medicine. Decisions taken by Genzyme’s panel of experts in India are based on “the course of the disease, the stage of the child, how many applicants there are,” and so on says one doctor who is on the panel.
In the meantime, there are just three cases of patients paying for their treatments in India. Two are children of defence personnel (the army has agreed to pay) and one has a parent employed at public sector firm ONGC which is footing the bill but probably not for good.
And there are still several LSDs for which there is no effective treatment.
As this is being written, the group prepares to visit Prime Minister Manmohan Singh with letters from the children they represent, in a bid to push for funding for diagnosis and treatment.
In India’s healthcare system where the patient’s voice is the weakest and most easily dismissed LSDSS is a stand-out achievement for a bunch of ordinary people from ordinary homes. Even more so given how rare – and therefore unknown – these disorders are. But in a country where 80 per cent of healthcare spending is out of pocket their battle is an uphill one.