Photograph of Vaneesha and Abajee

My GNE Myopathy Story

I am Vaneesha from France and I am thirty five years old. Fourteen years ago I was diagnosed with GNE Myopathy at the age of 23. My parents and my husband are from Mauritius a small island on the Indian ocean. As far as we know there was no one in my family with GNE Myopathy. I have a younger sister who is asymptomatic.

During the time I was dating my husband Dharmajee I did not have any symptoms of GNE Myopathy. Soon after we got married I started experiencing early onset of GNE Myopathy symptoms. My life and that of my husband have changed after receiving this diagnosis. I was constantly scared of falling so I started using a cane and a rollator. Subsequently, we moved into an adapted home to better meet my needs.

Prior to having symptoms I used to dance, exercise and swim. I also enjoyed shopping, travelling, and cooking. Now, however I have adapted to my current ability to where I enlist the help of a caregiver to help me get into the swimming pool, spa or on a vertical table.

Although, I strive to be as independent as I can there are some things I need help with. And, when I do my husband is always available to support me such as putting on my jacket or shoes. He also helps me with household chores.

Despite having this rare disease, I continue to work as a consultation nurse with cardiac patients. My regular routine starts at 8 am and ends at 5.30 p.m. in the evening. I have a caregiver who helps me with some tasks in the morning and evening. I have a wheelchair accessible car and I can still drive using a hand control system.

Living with this disease changed me physically and mentally even though I know my future is uncertain. I don’t know if I would be able to move my legs, feet and hands because of the progressive nature of GNE Myopathy. Now, I feel more determined in my life to appreciate the simple moments with my family , I am more tolerant and positive in my day to day life. I realize that there are others in more unfortunate circumstances than me where I am able to see and breathe, some are unable to experience these on their own. I remain hopeful and have a positive outlook that a treatment will become available.