A Fellow GNE Myopathy Patient Discusses Her Activities as a Part-Time Patient Advocate

My Activities as a Part-Time Patient Advocate
By Shilpi Bhattacharya

Some of us came together to start GNE Myopathy International two years ago with the idea of uniting GNE Myopathy patients internationally to bring about greater awareness and to fight for a cure for our extremely debilitating medical condition. This endeavour has essentially been thanks to the efforts of Tara, Rushabh and my parents Professors Alok and Sudha Bhattacharya. We realised that to expedite a cure we must be united as a patient group. Initially our efforts were focused on bringing information to newly diagnosed and undiagnosed patients through our website www.gne-myopathy.org. Here we provide information about symptoms (in different languages), doctors, hospitals and disease management, like the use of assistive devices. We also review all possible future treatments for GNE Myopathy and which ones are likely to be more promising. Further, we have a wonderful collection of patient stories that we hope is also useful for new patients.

Subsequently we set up a trust called World Without GNE Myopathy (India) to fulfill the objectives of GNE Myopathy International in India. At the time that we started this, I was a Ph.D. student living alone in Europe and was struggling to balance my studies and life. I didn’t have much time for any patient advocacy or anything else, for that matter. I felt bad that I couldn’t socialise or participate in activities with my friends because I would invariably get tired. In India there is truly very little awareness about rare diseases but things are not so good even in more developed countries. While studying in Europe, not only was I unique for being the Indian, dark-skinned girl in a European university campus but I felt even more that I stuck out in the crowd because of my disability. I hardly saw any physically disabled people in any of the campuses I visited. It is sad that even with the better infrastructure and facilities available disability continues to remain ‘invisible’ and I still had to fight to make environments more inclusive, often missing out on opportunities because I wasn’t able to access conference venues or other locations.

A few months ago I moved back to India after completing my studies and now having a little more time on my hands, I have been able to contribute more to our organisation. This year was the first year that our organisation celebrated World Rare Disease Day. Our objective was to raise awareness about rare diseases. With this in mind, we organised an essay contest for students in India where we asked them to write about rare diseases and awarded a prize to the winning essay.  We also engaged in some face-to-face awareness raising at two malls in Delhi. We prepared a flyer with some basic information on rare diseases and distributed it to people at these malls. We also explained what rare diseases are to those people who did not know about them. We had a very good response with many people coming forward to offer help. It was nice to see that at least some people were interested and willing to listen and know more about rare diseases. I personally found it very fulfilling because unlike social media, we were able to engage with people at a more personal level through physical contact.

Like all rare disease patients I have been patiently waiting and hoping that a cure will become available to us soon. Scientific advancements have made it possible for us to reasonably hope that a cure is within our reach. Yet, low patient numbers make the process of bringing treatments to rare disease patients very slow. With this in mind we have also started advocacy efforts for enacting an Indian rare disease policy. As part of this effort, I wrote an article for an Indian national daily newspaper on the need for a rare disease policy in India. (http://www.thehindu.com/opinion/op-ed/the-draft-national-health-policy-ignores-rare-diseases/article8318356.ece) This is a crucial part of our mission at GNE Myopathy International since without government support it will be impossible to bring a cure for GNE Myopathy to patients.

We also organised a workshop (along with the Indian National Science Academy in New Delhi) on developing a scientific agenda for rare diseases. This workshop was planned and organised largely thanks to my father with the help of some of his extraordinary scientific and medical colleagues. The workshop was very well attended by doctors, scientists, patient groups, pharma companies, regulators and the media with people attending from different parts of India. This workshop was the first of its kind in India and brought together different stakeholders. It was wonderful to talk to doctors working on different rare diseases and other scientists working in the field. At the conclusion of the workshop I had the chance to speak about how while many of the concerns we face in the rare disease community are the same, yet some of our concerns are quite different. We must recognise our differences as a rare disease community if we truly want to come together to help each other. We are now in the process of drafting workshop recommendations that we will put forward to Indian policy-makers. These recommendations include policy suggestions and scientific and medical recommendations. We also want to coordinate with doctors to build a registry of GNE Myopathy patients in India. One aspect of concern to us in India is the large number of patients from economically backward regions of India who are likely going undiagnosed. This is something we would really like to change.

On a lighter note, we love travelling and want to work to raise awareness for making India a more disabled friendly tourist destination. As part of these efforts we were recently featured on a travel blog.http://indebo.com/blog/the-indebo-connect/interesting-stories/client-testimonials/agra-on-wheels/ We would like to be able to go everywhere on wheels!

This is the start of our fight to bring treatments to people with rare diseases. We need the support of the entire patient community to help fulfill the objectives of GNE Myopathy International, and World Without GNE Myopathy (India). We hope that you will all help us in whatever way you can.

Note:  Thank you Shilpi for sharing your GNE Myopathy journey thus far with us. I am amazed, and very encouraged that in a very short time you, along with GNE Myopathy International have made such impact, not only in India but worldwide.  I am encouraged because you have continued to make bold steps to educate all about our disease.  Thank you.