Welcome to my new series of blogs about stories of rare diseases that manifest later in life. Here I present the stories of three other strong-willed GNE Myopathy women coming from different socio-economic backgrounds and different life …
Symptoms of rare diseases often creep up quietly, rather than arriving with the brutal shock of a sudden lifestyle upheaval. The change is gradual—unyielding and relentless in its impact. One moment, I was darting around the globe, making …
Shikha’s family migrated from Rajasthan to Kolkata several generations ago and set up a flourishing textile business. She had always seen a life of plenty, although tempered with discipline and hard work. She was gifted with great physique, …
Long before the professional management degree became a passport to success, the world of commerce was managed (perhaps better) by intuitive managers. With a macro vision of the world around them, and a micro vision of their own immediate …
Darji was a profoundly devout man. His piety was not limited to his daily visit to the Gurdwara; rather, it was a permanent resident in his heart. His eyes saw only the good in his fellow human beings.
In the 1980's Samir Sethi could be described as a charming Punjabi lad with impeccable manners. His family had migrated from Rawalpindi in Pakistan, and by the time Samir was growing up they had set up a flourishing dry fruit business in …
Physician-scientists are perhaps some of the busiest people on the planet. With heavy clinical duties on top of running a successful research program that involves keeping track of latest developments in their field, hiring and training …
Where the mind is without fear and the head is held high - if one were to put faces to Rabindranath Tagore’s people, Archana Vashishta Panda, her husband Anup Panda, and daughter Anushka would come very close. And yet, there was a time when …
Those of us living with GNE myopathy constantly pray for a treatment to emerge that could stop the relentless grip this disease has on our bodies. The failure of sialic acid supplementation therapy in the phase 3 Ultragenyx trial was a big …
In Part 1 we saw how Vikas and Poonam lost their two babies Chahak and Lakshya to an unknown disease that was categorized as an inborn error of metabolism. The parents struggled to get a diagnosis for this disease that took away their …
Metabolic acidosis, arterial blood gas, pyruvate dehydrogenase…. words that infiltrated the lexicon of 28-year-old Vikas Bhatia - uninvited, unwanted and, now, dreaded. The carefree Commerce graduate, Vikas had joined his father’s handloom …
Hello Readers! I am Sudha Bhattacharya , mother of a lovely daughter who got diagnosed with a rare muscle disease, GNE Myopathy , at the age of 26 years when she was a budding corporate lawyer. Suddenly her (and our) world of hopes and …
GNE myopathy is an ultra-rare muscle disease with no cure so far. I am keen to understand scientific developments in GNE myopathy and related fields not just as a biomedical scientist, but also as a mother whose daughter lives with this …
