When we find out we have a rare disease, initially it can be quite devastating and as time progresses we find out we have choices about how we proceed with our disease. Here is one patient's effort to make a difference by raising funds to support GNE Myopathy International (GMI) http://gne-myopathy.org/. We would like to express our sincere gratitude to Mona, Mayank, and friends for their inspiring effort and initiative to raise funds for our patient organization.
We, at GMI, are very proud and touched by their effort and know that initiatives like this are paramount to our community finding and funding a cure for GNEM where our mission is: "We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy."
Mona's Story:
I live with a rare muscle disease called GNE Myopathy. I’ve not always had the symptoms of it; in fact, I was an active and independently able-bodied person until my mid-twenties so the disease was a shock. Over the years, it’s deprived me of my muscle strength to the point now where I need to depend on equipment with everyday activities and mobility devices to get around. What’s worse is, it makes me feel ‘needy’, which I find difficult but I don’t have a choice. The one thing I do have a choice over is how I deal with this challenge. I have created strategies to help me manage the changes and I have made the choice to embrace the disease so I can try to make a difference to the lives of other disabled people. This disease has taught me empathy, determination, how to confront barriers and reduce stigma, particularly in my Asian community. This disease has brought kind, resourceful, strong-willed and inspiring people into my life for which I am enormously thankful. One such person is my amazing Brother-in-Law. For more on Mona's story and her fund raising link https://www.justgiving.com/crowdfunding/MonaPatel-GNEMyopathy?utm_id=60&utm_term=jjpPRQnMP
Mayank the Person Behind the Duathlon and Fundraising
Mayank has kindly offered to raise money for this cause by taking part in the London Duathlon on 18th Sept 2016 consisting of a 10K run, followed by a demanding 44K bike ride and ending with a 5K run. Mayank's preparation for this grueling feat is based on his dedication to bring attention to GNE Myopathy. For the past six weeks he has a very rigorous schedule of running, biking, and core exercises in order to be in optimum conditioning to participate in the duathlon. URL for this event: https://londonduathlon.com/race-day/route/duathlon
In Mayank's words... out of admiration for Mona, I started training just six weeks prior to the event due to a back problem.I normally raise money for different charities, recently for my sister who suffered badly from rheumatoid arthritis (but thankfully I am now doing better). Since 2014, I have been wanting to help raise awareness for GNE Myopathy as I have seen Mona's condition deteriorate gradually over the years such that now she needs help to do routine tasks, that I take for granted. I know that some of the minor difficulties that I faced when I get injured and know how painful, frustrating and depressing things can get not being able to use my body to the fullest even for a short period. I am amazed by the resilience Mona has shown year after year and of course her condition is way worse than any injury I have had to deal with. Mona is always eager to participate in life to the fullest - this is what inspired me to take on this challenge to help raise funds and awareness of GNE Myopathy. I hope that money raised will be a start to providing support and one day soon in finding a cure.
And, Mona continues to inspire more people... more recently, a couple of her friends, Sanjay and Satish decided to set up a second fund raising site. Their intention is to increase public awareness of GNE Myopathy and to donate all proceeds to GMI. Please refer to this link and learn more about Mona: https://www.justgiving.com/crowdfunding/sat-sanj?utm_id=67
The NDF has planned a two day informative and interactive symposium for patients and family on August 31-September 1st. Many patients will be attending from the U.S. as well as from overseas. I look forward to two inspiring days of meeting patients, caregivers, and doctors. I truly believe together we are stronger in curing GNE Myopathy.
Some of the speakers include Dr. M. Hedge from Emory Genetics, Dr. E. Connor from Ultragenyx, Dr. M. Huizing from the NIH and many more. For a complete lineup of speakers and activities please refer to this link.
The NDF has recently launched their new website with many recent updates on testing, research, trials, and a special section on FAQ's. Check it out and please send us feedback: http://curehibm.org/
The Sialic Acid trial for severe ambulatory impairment is still recruiting patients - you may contact the sites directly, and let me know if you need my assistance. Here is the link: https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2
We, at GMI, are very proud and touched by their effort and know that initiatives like this are paramount to our community finding and funding a cure for GNEM where our mission is: "We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy."
I live with a rare muscle disease called GNE Myopathy. I’ve not always had the symptoms of it; in fact, I was an active and independently able-bodied person until my mid-twenties so the disease was a shock. Over the years, it’s deprived me of my muscle strength to the point now where I need to depend on equipment with everyday activities and mobility devices to get around. What’s worse is, it makes me feel ‘needy’, which I find difficult but I don’t have a choice. The one thing I do have a choice over is how I deal with this challenge. I have created strategies to help me manage the changes and I have made the choice to embrace the disease so I can try to make a difference to the lives of other disabled people. This disease has taught me empathy, determination, how to confront barriers and reduce stigma, particularly in my Asian community. This disease has brought kind, resourceful, strong-willed and inspiring people into my life for which I am enormously thankful. One such person is my amazing Brother-in-Law. For more on Mona's story and her fund raising link https://www.justgiving.com/crowdfunding/MonaPatel-GNEMyopathy?utm_id=60&utm_term=jjpPRQnMP
Mayank the Person Behind the Duathlon and Fundraising
Mayank has kindly offered to raise money for this cause by taking part in the London Duathlon on 18th Sept 2016 consisting of a 10K run, followed by a demanding 44K bike ride and ending with a 5K run. Mayank's preparation for this grueling feat is based on his dedication to bring attention to GNE Myopathy. For the past six weeks he has a very rigorous schedule of running, biking, and core exercises in order to be in optimum conditioning to participate in the duathlon. URL for this event: https://londonduathlon.com/race-day/route/duathlon
In Mayank's words... out of admiration for Mona, I started training just six weeks prior to the event due to a back problem.I normally raise money for different charities, recently for my sister who suffered badly from rheumatoid arthritis (but thankfully I am now doing better). Since 2014, I have been wanting to help raise awareness for GNE Myopathy as I have seen Mona's condition deteriorate gradually over the years such that now she needs help to do routine tasks, that I take for granted. I know that some of the minor difficulties that I faced when I get injured and know how painful, frustrating and depressing things can get not being able to use my body to the fullest even for a short period. I am amazed by the resilience Mona has shown year after year and of course her condition is way worse than any injury I have had to deal with. Mona is always eager to participate in life to the fullest - this is what inspired me to take on this challenge to help raise funds and awareness of GNE Myopathy. I hope that money raised will be a start to providing support and one day soon in finding a cure.
The NDF has planned a two day informative and interactive symposium for patients and family on August 31-September 1st. Many patients will be attending from the U.S. as well as from overseas. I look forward to two inspiring days of meeting patients, caregivers, and doctors. I truly believe together we are stronger in curing GNE Myopathy.
Some of the speakers include Dr. M. Hedge from Emory Genetics, Dr. E. Connor from Ultragenyx, Dr. M. Huizing from the NIH and many more. For a complete lineup of speakers and activities please refer to this link.
The NDF has recently launched their new website with many recent updates on testing, research, trials, and a special section on FAQ's. Check it out and please send us feedback: http://curehibm.org/
The Sialic Acid trial for severe ambulatory impairment is still recruiting patients - you may contact the sites directly, and let me know if you need my assistance. Here is the link: https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2
