Shilpi Bhattacharya is a person living with GNE myopathy and wants to raise a voice to spread awareness about it and demand treatment research
Someone told me it’s like coming out of the closet – admitting to the world and to yourself that you are disabled. I know many people with disabilities who resist admitting it to the world – they prefer to hide themselves rather than show their vulnerability. In my case I felt I was doing the African American equivalent of ‘passing off’ – when black people with lighter skin colour tried to pass off as ‘white’ to prevent being discriminated against.
In the early years of my disease I was always trying to appear ‘non-disabled’ – never talking about my disability, trying to do everything like everyone else and hoping that no one would really notice me and ask any questions about it.
Talking about it has always been difficult. Maybe because I wasn’t born disabled so I wasn’t really used to it. Also, it didn’t happen suddenly in one instance like an accident. I often let people who ask me what happened think I was in an accident. It’s easier than explaining the truth.
The truth is that my disability arises from an extremely rare, genetic condition called GNE myopathy, which is estimated to affect one person in a million. This condition causes progressive weakness of muscles throughout the body so that people like me who suffer from this condition gradually lose the ability to walk and carry out basic tasks that we were once able to.
It manifests itself in adulthood – so for most people a diagnosis (in itself an extremely challenging task) is like a slap in the face – at once shattering all carefully thought out life plans, dreams and hopes of the future.
My symptoms started in college when my friends made fun of the way I walked. I didn’t realise that my walking style was the beginning of such a serious disease – life otherwise continued as normal. All I felt then was some unsteadiness on my feet and frequent falls. A few years later, when I was about to complete my Master’s degree at the age of 24, I realised one day when trying to catch a bus that I simply couldn’t run any more. My body just refused to do it.
Things started to get worse faster. Gradually I got used to my body telling me that I couldn’t do things any more that I once took for granted – like climbing steps. Sometimes the realisation was physically painful because despite this inner voice telling me I wouldn’t be able to do it, my stubborn self would still try to push my body – invariably resulting in a bad fall. Those were confusing times because I was beginning to see a new version of myself.
After my Master’s education I got a job in Singapore. When I came home to Delhi before the move to Singapore, my parents could make out something was seriously wrong and took me for a check-up. Doctors weren’t very helpful. So I decided to seek medical help in Singapore – I thought that would definitely be better than India. The first doctor I went to was so confident in his misdiagnosis, which is very common for most people with rare diseases. In fact, a European survey found that almost half of all people with rare diseases are initially misdiagnosed – many of them are also given wrong treatments that can be expensive and painful. That survey also reported that rare disease patients had waited at times for 30 years to get a correct diagnosis.
While these figures are improving, there is still a vast difference between the level of medical care available for mainstream diseases and for rare diseases. In India most people suffering from rare diseases do not have access to sophisticated medical help and remain undiagnosed. This can be very serious for those who have life-threatening rare diseases and can die without a correct diagnosis.
Diagnosis can in itself be extremely expensive but treatments are even more expensive – making them beyond the reach of the average Indian. I sometimes hear stories about Indians with undiagnosed diseases who are subjected to all kinds of cruelty to ‘cure’ them of their disease and feel that these people in all likelihood suffer from a rare disease about which there is no knowledge. Awareness about rare diseases would I hope go some way to prevent such practices.
Thankfully, I took a second opinion from an excellent neurologist in Singapore who after many tests and a lot of effort correctly diagnosed me. The process took two anxious years. Finally, all I felt was relief to put a name to my disease, and what a funny name it is! By then I was on my way out of Singapore and back home with a job that I hoped would be easier on my body. I still hadn’t met a single person who had the same disease as me and am still in search of a Bengali with my disease!
Nothing much else came from the diagnosis. I was told that there was no current treatment for the disease so I had nothing much to do other than take care of my health and watch my body get progressively weaker. This is also something common since most rare diseases are still untreatable. I am reminded of babies learning to walk because having a progressive condition is exactly the opposite – it’s a process of ‘unlearning’ the functions of your body – getting used to a new you that is constantly loosing function.
In my condition falls are frequent and always emotionally painful because it is a realisation that there has been a further progression towards greater disability. I’ve often tried to rationalise why this is painful for me. We all have a sense of who we are and what we want to be and that sense drastically changes with a disability. No matter how much I as a disabled person want to ‘show off’ my disability now, this sense has only come after a protracted period of mourning for my ‘loss’ – the loss of the part of me that could do things independently. But along with that has also come a new sense of confidence in myself, that despite my physical inferiority I may be able to add something to this world.
It was after many years of diagnosis and patiently waiting and hoping for a treatment to come along that I realised that if patients didn’t raise their voice about the difficulties faced by them, a treatment might never come. Unlike for other diseases where you go to the doctor for medicine, with a rare disease it is common for patients to be actively involved in bringing about treatments. Most patients know more about their disease than the average doctor. This is because we are just so few of us that no one else can be expected to care about our disease as much as we do.
It was with this realisation that my parents, some other patients with GNE myopathy and I started an organisation called GNE Myopathy International and formed a trust to support our work (www.gne-myopathy.org). We carry out rare disease and disability awareness and educate the GNE myopathy community. We are also involved in scientific research and want to start a project to bring about grassroots level awareness of rare diseases in India. We hope to be able to diagnose and support rare disease patients in rural areas.
I am still patiently waiting for a treatment to be made available. The science is there to make it possible – just the money isn’t enough to make it a reality. In the mean time I love to travel and do my job and I’m glad for all the wonderful people that have supported and encouraged me along the way and seen me and not just my disability.
Photo credits: All photographs shared by the author from her personal collection
34 responses to "Reflections of a person living with a rare disease"
Nice article selection! My best wishes to Shilpi for her researches
Shilpi, like rare diseases you’re rarest of the rarest who took the responsibility to give a shoutout for the major crisis in the developing countries. You are a true hero. In India people doesn’t even get a painkiller for their pains in different govt hospitals and I know how it feels like to stay with Rare disease. Please write me on firstname.lastname@example.org if you need any help. I’ll try my best. Dr Kar
Thank you. I will send you an email
So proud of you gurl. I know I won’t ever be able to know what it is like to be in your shoes. I bow my head in respect to Your courage and complete determination to help. Wish u luck in ur journey
I am really proud of you, Shilpi. One of the nicest persons I have ever met. It was a real pleasure to have you with us at the Rotterdam Institute of Law and Economics (RILE) at the Erasmus University Rotterdam (EUR). Best wishes. 🙂
I am so proud of you Shilpi. God bless you and I wish you great luck in your determination to help others. Love!
Hats off shilpi..ur courage and clarity of thought astounds me!!
Your courage and love is such an inspiration for all the people around you. You are my hero!
Very informative article Shilpi! Thank you for everything you are doing for giving awareness to GNE Myopathy aka HIBM. We must stay strong and never give up on hope.
This is a great leadership. I am proud of your initiatives. Let us explore how we can take up this movement to a good finish with research and results. Best wishes to you.
the article has left me very thoughtful. life can truly change in an instance.your courage and positivity are amazing. great initiative.
Thank you Wicher
Thank you Anita Aunty. Need your blessings!
Thanks Lisa 🙂
Thank you very much sir, for everything! Our teachers are our inspiration.
Shilpi didi so proud of you and your resilience! Many people who even without the condition would not have achieved half as much as you have 😊
Feeling so….. Proud shilpi…what you have suffered and still suffering, that you don’t want other people should go through…for this you r working hard with your organisation….you r such a pure soul with a beautiful smile… God bless you sweetheart😘😘..All the best👍👍
Thank you Mamiji
You are a true winner Shilps! An inspiration for everyone.
So sweet Enma!
Immensely proud of you dear Shilpi! Did not know about this earlier and so while it certainly came as an unpleasant surprise, your words of determination and clarity certainly made it possible to quickly rise above the unpleasantness and re-read this with a lot of pride! Heartiest congratulations on your PhD and on this great initiative to support those in real need. Am sure you will make great contributions to the lives of many! Hoping to meet up sometime soon. A lot of warm wishes and prayers.
Very nice of you Prasanth! Thanks very much.
Shilpi So proud of you… The way you face life and move forward, it’s simply exemplary. A very well written article and love the effort and the great work which you are doing. P
Thanks Priungkush! 🙂
So proud of you,so much informative article.God bless u.
Thank you Mamiji!
I am just too move by your article Shilpi.Brave and unique daughter of unique parents.You all deserve much better in life and I am sure some miracle will happen sometime. I know the times Alok used to wait while you practised Kathak in Shovana’s academy.One day I would really like to see you there. Have met a lady who got Padmshree with all kind of disabilities and is living life to the full! I wish you the same. Both Jagdish and myself often think about you as a great woman!Keep up your morale! neera and Jagdish
Thank you Neera Aunty!
It was a wonderfully moving article..I liked the way you articulated, especially when you mention “Most patients know more about their disease than the average doctor. This is because we are just so few of us that no one else can be expected to care about our disease as much as we do. ” Sterling it was.. Wishing you all the best for incredible journey you’ve embarked upon…
Hii Shilpi, I am Mahak, a researcher at IISER Mohali. Your story is truly inspiring and so are you. It is wonderful to see your positivism and incredible efforts towards spreading awareness about GNE Myopathy and finding a cure for GNE Myopathy. I hope to meet you someday. Thank you for sharing your story with all of us.