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 trajectories in their pre-disease era.
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 things happen with agility and speed; the next, it felt as though someone had chained a 1 kg weight to my ankle..
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, charming looks, and a sharp mind, all of which floored young Vikram whom she met while still in high school. After graduation, Shikha landed a job in a…
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 circumstances, an intuitive manger has the innate talent to determine the best strategy for attaining their goals. Once a decision is taken, there is no…
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 old Delhi. With his ivy league-type education and MBA degree, Samir had no plans to be sitting in his father’s shop selling dry fruits like a ‘Lala’. However,…
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 research staff, planning and executing the research, and competing for research grants, these busy-bodies haven’t a moment to spare. So, if some of the top…
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 fear and hopelessness had become Archana’s constant companions. Her ten-month old baby, who was not just the apple of Archana’s motherly eye, but could charm…
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 disappointment for us. Gene replacement therapies, although highly promising, are in nascent stages of development, have serious safety issues, and are going…
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 babies within days of birth; but the correct diagnosis continued to elude them. Here we shall see how their journey finally culminated in the correct diagnosis, and…
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 business in Jaipur and was rearing to take it to new heights. Five years earlier he had been married to Poonam , and now they were going to welcome their first…
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 dreams came crashing down. The verdict was grim. There was no treatment for this rare disease. Her condition would progressively worsen. She would lose muscle…
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 progressive disease.