tara

tara
Meeting my Congressman

Friday, December 30, 2016

Images of 2016 With Hopes for Getting Closer to a Cure in 2017



                

Dear friends, family, and readers:
Thank you for continuing to follow my blog, and for helping me in my effort to increase awareness of GNE Myopathy.  I appreciate your attention, communication, friendship, and for reaching out to me.  Ever since I started writing about GNE Myopathy, I have attempted to write about the latest research and have sought to expand public awareness of our rare disease by attending various conferences and by meeting with as many patients as my physical ability would allow.
This year I have been fortunate to attend many functions of the Rare Disease community and decided to close out 2016 by showing some of the highlights in images.  

Highlights in Images in 2016:
A Guest Blogger's visit  to a GNE Myopathy patient Kai-Ni-Ma in Taiwan



 A GNE Myopathy patient Kam's illustration was selected by the Everylife Foundation for display during the Rare Disease Caucus in Washington, D.C.
 


Stories of GNE Myopathy patients Shilpi and Mona's fundraising efforts:


     

The Ultragenyx's Patients Day 2016 held in California. It was a fun filled event and was attended by patients from many countries.


Another Patients Day held by Ultragenyx in Barcelona, Spain and was attended by GNE Myopathy patients with their care givers.




A two-day symposium sponsored by the Neuromuscular Disease Foundation (NDF) was attended by patients from as far away as Japan and Portugal.  What a fun group!  I look eagerly forward to our next meeting.

One of the most important highlights of 2016 was the announcement by Mr. E.Yashari and C. Becher (both board members at NDF),that funds have been allocated to initiate a "Pre-Ind" clinical trial for gene therapy, which will be administered by Dr. J. Mendell. 


The NDF has launched their new dynamic and very informative website this year, It is a very user friendly site.  In addition, a short video about GNE Myopathy in which I played a brief part "Bracing for Life" is to be found on this site at  http://curehibm.org/

And yes, education, and advocating and meeting friends in the rare disease community at the Global Genes Conference was truly an inspiring experience for me.






The international patient organization, GNE Myopathy International (GMI) http://gne-myopathy.org/ has initiated a webinar series in 2016 directed and organized by patients.  The first and second webinars addressed current and potential treatments for GNE Myopathy.  Each webinar was attended by an average of 25 patients from all over the world. The presenters were Prof. Bhattacharya, a member of http://gne-myopathy.org/ and Lale' Welsh, CEO of the NDF and http://curehibm.org/

GMI supported by World Without GNE Myopathy (WWGM) have been very active in India in 2016 by distributing flyers, organizing workshops, and  funding an essay contest on rare diseases. For more on their activities please visit:  http://gne-myopathy.org/upcoming_events.html




Link for Current and Ongoing Trials for GNE Myopathy
https://clinicaltrials.gov/ct2/results?term=gne+myopathy&Search=Search

Since I was correctly diagnosed with GNE Myopathy  in 2010 and started writing a blog and I have continued to be encouraged that a cure would be discovered. Even before my correct diagnosis I have experienced many physical challenges, I have been dismayed at times; however, I have remained hopeful. I remain hopeful because I know there are many researchers, doctors, a biotech company, and the National Institutes of Health (NIH) all working on an effective therapy for GNE Myopathy.  Not many rare diseases have this collaboration; therefore I feel quite fortunate.   I look forward to meeting more of my fellow GNE Myopathy patients and learning more about our disease in 2017.  


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