Flyers and Patients Stories on Website gne-myopathy.org

The GNE Myopathy website was started a little less than a year ago by a group of patients and family members. We formed this site with the hopes of generating increased awareness for Gne Myopathy, and to collaborate with patients and researchers on finding a cure for our disease.
We have continued to increase the awareness among patients, and to some extent within the medical communities; however, much work needs to be done.  Fellow patients are helping us by disseminating flyers in their respective countries.  These flyers list the signs and symptoms of Gne-Myopathy and have been translated into fourteen languages by native speakers of these languages.  These flyers are available for download from the http://gne-myopathy.org/ website.  We also invite patients to share their stories and would sincerely like to thank Roberta and Liraz for sharing their stories of the various challenges that  Gne-Myopathy presented in their young lives.
This first story is done in a Question/Answer format.

Roberta Living with GNE Myopathy from Turkey

Q. How long have you had GNE Myopathy?
It’s been 8 years now
Q. When and how were you diagnosed? 
My symptoms came out very quickly. Until i was 25, everything was normal; I could do everything until November 2007. First I started to be late to work, I couldn't understand myself my friends were seeing me on the way and they were asking "are you all right? Why are you walking lame?"  Then in 2 weeks I came home late and was climbing the apartment stairs like creeping.. my dad saw this and thought I had something wrong with my bones (like hip dislocation), I had an x ray, nothing was wrong then they send me to a neurologist, she told I could be MS (multiple sclerosis), I’ve seen the MS doctor and she sent me to neuromuscular professor. Then she wanted some tests like EMG, biopsy just to be sure about the disease.

For more information on Roberta's story, please visit:   

  http://gne-myopathy.org/our_stories.html                                                                                                        

Living With GNE Myopathy from a Young Age


My name is Liraz and I was born on April 2nd, 1994 in Kiryat Yam, Israel. I was diagnosed with HIBM at the age of 17, in April 2011. My parents are first cousins, both are Persian Jews. So far, I am the first, and hopefully remain the only case of this disease in my entire family. I also have an older sister (24 years old) and twin brother and sister (13 years old).

For more information on Liraz's story, please visit:
  http://gne-myopathy.org/our_stories.html