This event was to honor Dr. Argov and Dr. Rosenbaum, and to raise funds for the research and cure of Gne-myopathy. Jennifer Y., a fellow Gne-myopathy patient gave a very moving speech Some patients also shared their experiences of what it is like living with Gne-myopathy. The flawlessly exquisite evening could not have been possible without Lale' Welsh (CEO), her staff, and scores of NDF ambassadors who have worked to increase the awareness of Gne-myopathy. It is very remarkable that the love of a mother for her daughter has blossomed into the NDF and the community continues to nurture this love.
The Rare Disease Report made a short video of me speaking when I attended the Global Genes Summit recently.
Here is a the most recent Newsletter from GNE-Myopathy Monitoring Program. It is very informative and features a Gne-myopathy patient from Brazil, foods rich in Sialic Acid, as well as the various centers that are now recruiting for the phase 3 Sialic Acid trial. Please consider participating if you meet the criteria. Please refer to this link:
Here is a link for the Israeli Gne-myopathy organization which I recently came across on the internet:
I really think that getting accurately diagnosed is a big challenge for Gne-myopathy patients as my family has experienced first-hand. In recent years, however it has become much more easier to get diagnosed which is done by a (buccal) saliva kit. Recently,I have discussed an article that I thought would be useful to post this article again in the hope that more undiagnosed patients would consider getting tested for Gne-myopathy. This article states that "The unrecognized high prevalence of GNE myopathy (~ 40,000 patients worldwide; ~3000 patients in USA, instead of previously estimated ~ 400) confirms suspicions that many patients escape diagnosis".
Here is the link for the abstract:.
Finally, I understand that there is a large group of Chinese patients in Mainland China. If you are a patient or doctor in China, Please contact some of the organizations working on treating and finding a cure Gne-myopathy. Please reach out to me or go to gne-myopathy.org and access the flyer written in the Chinese language. Here is an abstract of 35 patients who were studied: http://www.sciencedirect.com/science/article/pii/S0022510X15002385