tara

tara
Meeting my Congressman

Tuesday, October 20, 2015

Compendium: NDF Black and White Ball, Rare Disease Report Short Video, GNEMP Newsletter, Israeli Support Group and Chinese Patients

The NeuroMuscular Disease Foundation (NDF) held their annual Black and White Ball, and Fundraiser  at the Beverly Hills Hotel in Los Angeles Ca..  There were approximately 400 in attendance.  I, along with other patients, attended this special event.  We were well entertained with comedian Tim Homayoun and the Master of Ceremonies Steve Mittleman.    Lale' Welsh, along with her staff, were very attentive to every detail of this evening.  A delectable dinner was served. 
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.

https://www.youtube.com/watch?v=XrJUONgNhb8&feature=youtu.be

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:
http://gnem-dmp.com/ht/a/GetDocumentAction/i/1681

Here is a link for the Israeli Gne-myopathy organization which I recently came across on the internet:
http://www.hibm.org.il/english/

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:.
http://www.neurology.org/content/84/14_Supplement/P2.044

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
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