Get-hooked July 9, 2019
"I choose to focus on what I can do, not on what I can’t" – My Take by Rushabh Desai
Through the month of July, we turn the spotlight on rare diseases. Today, on My Take, Rushabh Desai, an independent financial advisor, who has a neuromuscular disorder called GNE myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM), talks about his journey.
It seems just like yesterday that I was in my last year of study at University; unaware that what lay ahead was going to change the entire course of my life. I knew something strange was happening with my body but just couldn’t figure out what it was.
Right from my childhood I was very healthy and active in sports. During my university days, before the onset of this disease I was extremely good at swimming and gym work. So, when my friends asked me ‘why I walked strangely’. I could not accept that things could go wrong with my body. I chose to ignore it and not consult a doctor.
While playing a sport during a picnic with my friends at the age of 20, I suddenly noticed I was having difficulties running. My abnormal walking and running pattern was quite noticeable by now. This alarmed my mother and she took me to a doctor. After going to several doctors and going through various tests my parents were told that I have a muscle disease, but were not sure which one. My parents, acting in my best interest, hid the news from me so that I could complete my graduation.
After my misdiagnosis in India I went to the Institute of Myology in Paris in 2010 for a more accurate diagnosis. It came as a shock to me. I was completely confused, shattered and in tears when I was told that I had a rare muscle disease which has no cure. For a 21-year-old, the agony and frustration just seemed to be beyond words. All my dreams seemed broken in a fraction of seconds.
Picking up the pieces
Soon after my diagnosis I convinced myself that there was no point in crying. I started searching for more information about GNE Myopathy on the Internet and got in touch with patients’ groups and scientists around the world to understand more. In 2012 I was relieved to hear of the start of a placebo-controlled study to evaluate sialic acid clinical trials run by Ultragenyx. With the support of my parents I went to the United States and enrolled at the University of California, Los Angeles (UCLA) trials site.
During this time many people in my community had questions about what had happened to me. At first I was too embarrassed to share my weakness. I knew they would not understand its complexity but running away was not the solution. I started travelling and connecting with different patients groups and scientists throughout the world. Understanding them and sharing my experiences on various platforms has helped me express and accept myself better.
It has been quite a journey and I have been fortunate to have met and received the guidance of top researchers/scientists around the world working on GNE Myopathy. This has brought a sense of responsibility and I look to help other patients and to work towards collaborating, educating, and raising awareness about this rare disease with a goal of finding a cure.
A few of us — patients and families — have come together to form an organisation in India. Called World Without GNE Myopathy (www.gne-myopathy.org), our aim is to help and support various aspects pertaining to GNE Myopathy.
Since the onset of this disease back in 2008 a lot has changed, from the closing of clinical trials to now using a wheelchair and I know a lot will change in the future. Each day has brought a new set of challenges in my life and a lot more is yet to come. There are days where I have lost faith and there will be many more such days. In this adverse journey one thing I will refuse to do is let this disease change my drive to fully cherish the gift of life and push my abilities to grow in the best manner.
Today along with patient advocacy I manage full-time as an independent financial advisor. In this capacity, advise, execute and review various financial products for clients in India. I take each day as it comes and choose to focus on what I can do and not on what I can’t.
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