My rare disease may take away my strength but it can’t take away my spirit…

By Mona, GNE myopathy, United Kingdom, February 27, 2019

On the beach in Tenerife

(Please note that my experiences are my own and are not representative of all GNEM patients).

GNE myopathy (GNEM) is an ultra-rare neuromuscular disease. GNEM is progressive muscle-wasting condition, it is not life threatening, but it leads to physical debilitation within two decades.

Life before my Diagnosis

Up until my early 20s, I achieved many things of which I am proud of - I accomplished a 25 mile walkathon for charity, climbed Sydney Harbour Bridge and scuba dived in the Great Barrier Reef…but my proudest moment was giving birth to my beautiful daughter. I loved swimming, dancing, yoga and Pilates before my disease progressed. Just like any young adult, I had many hopes and aspirations for my future.

My Life at Present

Since the onset of the disease, GNEM has slowly deprived me of my muscle strength. I am at a stage now where a lot of my mobility is limited by the disease. I can hardly walk, can’t run or climb stairs and there’s a continual feeling of vulnerability in case I fall. I can’t do the things most people take for granted like popping to the shop, getting dressed, reaching up to scratch the top of my head, sometimes I can’t even use the toilet independently. As soon as I start adjusting to my condition, I lose another function, so have to adapt again – the challenges are endless. It pollutes every part of my life and sometimes, all I can do is grieve for the chronic loss.

GNEM has a devastating ripple effect on loved ones around us. Not everyone has the mental stamina nor the support around them to cope with this condition. Just like other people with rare conditions, we are desperate for a treatment for this condition.

Becoming an Agent for Change

I have learned to embrace my disability and use my limited energy into making a difference.  I never think ‘Why me?’, instead I think ‘Why not me?!’

This disease has taught me about resilience and empathy. In addition, it’s helped me to confront barriers and stigma in order to make a difference to the lives of others. So now, I am an award-winning Equality & Diversity Specialist working for an award-winning University, I am a Fund Raiser and I am a Certified Patient Advocate by the Neuromuscular Disease Foundation.

Looking forward and spreading awareness

This disease has brought kind, resourceful and inspiring people into my life for which I am enormously thankful.

Our GNEM community struggle with the long wait for a treatment to be approved. We are very grateful to biopharma companies who are investing into research providing light at the end of the long, dark tunnel. I hope that before long, a treatment will be made available so that no one has to suffer the painful life experiences that are brought about by living with GNEM.

Patient Power

The GNEM patient community is taking control and collectively driving forward important changes. Initiatives such as ‘Rare Disease Day’ help to eliminate the isolation, remove hurdles, and provide vital support to each other and our caregivers. More importantly, it inspires and empowers us to keep pushing ourselves and to never give up hope.

You can help make a difference - Please donate

This is uncomfortable for me but I think this is a fantastic platform to ask for your support. By donating to the Neuromuscular Disease Foundation, you are empowering us to move ahead with our mission to fund research towards gene therapy, which could be a potential cure for this rare disease.

Thank you for taking the time to read about my journey.

For further info, visit Muscular Dystrophy UK GNE myopathy page.

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