GNE Myopathy is a rare genetic disorder that causes progressive weakening of the
muscles, starting with lower and upper limbs. Symptoms appear in adulthood,
generally by the age of 20-30 years. The exact symptoms and nature of disease
progression vary a lot between individuals. In general, early symptoms include
foot drop, and difficulty in walking and climbing stairs, although in some
patients the weakness in upper limbs may appear first.
Gradually there is difficulty in standing up from squatting position, and
weakness of hand and shoulder muscles. Eventually most skeletal muscles of the
body get affected, although function of heart and lungs is not adversely
impacted in most patients. It is said that within 20 years of initial symptoms
most patients are wheel chair-bound; however, there are large individual
variations.
WWGM is a registered charitable organization headquartered in New Delhi. It was
founded in 2015 by a group of people living with a rare genetic disease called
GNE myopathy and their family members. The impetus to start WWGM came from the
little awareness of GNE myopathy in society and the absence of a treatment for
the disease.
The founders of WWGM, Prof. Alok Bhattacharya and Prof. Sudha Bhattacharya, are
leading Indian scientists with outstanding credentials who are uniquely placed
to accelerate scientific research towards a treatment for GNE myopathy. WWGM is
the only organization in India and one of the few globally to be working for GNE
myopathy.
“We are at a time when new scientific technologies are being created and developed at an incredible pace globally. Yet, many in the rare disease community do not have the scientific background to track and understand these scientific advancements.”
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, …