You can’t make out the difference between me and anyone else when I’m sitting behind my desk at work. You may notice with some curiosity the walking stick resting on the wall beside my desk. Then as I get up and walk, you may be surprised to see me walk in such a peculiar way – awkward, unsteady and slow. You may not have seen someone walk in this way before. Out of concern you may ask – what happened to your legs? Why can’t you walk? Are you undergoing any treatment? When will you get better?
I, on the other hand, am grateful to still be walking. Others who suffer from the same rare, genetic condition as me but are more progressed are confined to wheelchairs and I am heading in that direction too.
A Rare Disease
In September 2009 I was diagnosed with a disease called GNE myopathy that is so rare it is estimated to affect one person in a million. It took me nearly three years to find the right diagnosis. GNE myopathy is an adult-onset disease that causes progressive weakness in muscles eventually making it impossible to walk and carry out daily activities.
Living with a rare and progressive disease is challenging on many fronts. But the hardest part for me is to constantly have to be patient with my body because it grows weaker everyday, no matter what I do – exercises, yoga and different kinds of treatments.
For instance, right now I am at a stage where I can fall if I don’t watch each and every step I take. Imagine the frustration when, despite all precautions, I still fall because for one moment I was not paying attention. Things that I could do without thinking a few years ago are a distant dream now. I have to constantly adjust to newer versions of me the way others adjust to newer versions of computer software.
‘It’s unlikely that I’ll ever get better...’
There are no known treatments for GNE myopathy. So it is unlikely that I will ever get better. I would be so grateful if I only didn’t get worse. I keep hoping that the day doesn’t come when I can’t walk anymore; that a treatment is made available before that day arrives.
How does anyone prepare emotionally for such an eventuality in ones life? The power of hope keeps me going. I celebrate every small moment. I consider every day spent safely, without a fall, a small victory. When I get back home safely from work every evening I do a mini dance of happiness.
Having seen the world first as a person without a disability and now as a person with GNE myopathy, I can say with some authority that every small thing I do now takes an infinitely larger amount of courage, patience and mental strength than the same things I did when I did not face these challenges.
Lack of Funds Holds Back Research
Yet, my life would be very different if a treatment for GNE myopathy were to be made available. GNE myopathy is an imminently treatable disease. In fact recent scientific developments are moving very promisingly towards a treatment. Yet, because this disease is ultra-rare it does not get the same attention that other diseases do, even though certain of those diseases may be harder to cure than GNE myopathy.
Some of us with GNE myopathy joke that we wish one of us was born to a billionaire because then a treatment would definitely have been developed for us by now.
Developing and bringing treatments to the market for rare diseases requires tremendous resources.
For the past few years, my parents, who are both scientists, and I have been working towards finding ways to treat GNE myopathy and we, along with a few other patients, have set up an organisation called World Without GNE Myopathy to take that objective forward. Yet, there are many hurdles on the path to developing a new drug for a rare disease and having adequate resources is just one of them.
We Need a Culture of Innovation
There is a wide gap between India and the west in the development of cutting-edge therapeutics for diseases like mine. The Indian pharmaceutical sector needs to work with the government to develop a culture of innovation in India, which will encourage companies to invest in the development of new drugs.
One way forward could be for us in India to build an institution similar to the National Institutes of Health (NIH) in USA, where the only on-going clinical trial for GNE myopathy is currently being conducted. The NIH houses a staggering number of clinical trials for diseases for which there is currently no treatment.
A model is needed in India where the government supports initial scientific research into disease mechanisms and therapy development and then the private sector steps in to sponsor clinical trials and bringing therapies to the market. An institution like the NIH, if developed in India, could also be equipped to carry out clinical trials at par with international standards.
Then if NIH wants to open a centre for its on-going clinical trial for GNE myopathy in India, it does not have to worry about the adequacy of infrastructure and resources.
Most Indians who are diagnosed with untreatable rare diseases can only access treatments if they travel abroad to participate in clinical trials. This is beyond the reach of most Indians who may not have the financial resources or the physical ability to do so. Thus, having a system where NIH can come to India so Indians can access trials here would be immensely beneficial.
Some collaboration between patients, pharmaceutical companies, doctors, scientists and the government could go a long way towards helping people like me to find a treatment for my disease. It could also help to make India a hub for the development of new therapies.
( Shilpi Bhattacharya teaches law at Jindal Global Law School and is a member of World Without GNE Myopathy. Please contact her at wwgm.india@gmail.com.)
(This is a personal blog and the views expressed above are the author's own. FIT neither endorses nor is responsible for the same.)
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