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Patient Day & GNE Myopathy Disease Monitoring Program Newsletter

     On April eleventh  Ultragenyx, a bio-pharmaceutical company held a celebration to honor families and patients with rare diseases.  This was their second year of holding this event.  There were about four hundred and fifty in attendance.  Ultragenyx is working on seven different drugs to help children as well as adults overcome their challenges with rare diseases.
      Ultragenyx offered travel scholarships for patients and their families to attend this event and organised transportation for patients to and from the venue.It was a beautiful sunny day in Novato, California where the event was held.  I attended this event with some of my family members and was impressed with the well-organized and smooth flow of such a large number of attendees.  We were warmly welcomed by the staff, who were very attentive to us and offered assistance to whoever needed it. There were vast amounts of delicious food served, as well a "dessert "truck."  There were many activities, especially for the children, such as game truck, face painting, and a bounce house.  I especially enjoyed listening to the band "Three Dog Night" as I danced in my chair to the captivating music.
     There were three other gne-myopathy patients present, and it is always intriguing to meet more patients as we have an unspoken bond. I was touched to see many young children with rare diseases in attendance.  It was very inspiring and refreshing for me to observe the young children with rare diseases. I feel hopeful that they will get effective treatment.
     Thank you Ultragenyx and your very talented staff for bringing rare disease patients and families together for this memorable event.
                                               Three Dog Night - Sweet Nostalgia





     Below is a link for the April Newsletter from the GNEM Disease Monitoring program.  This newsletter contains a story of another gne-myopathy patient, Colm Mohan, physical therapy tips, and information of the Phase Three trial of Sialic Acid.  Interestingly enough, it also states that over 150 patients have registered from various countries. There is a graph indicating the age of the participants and an overview of the answers they submitted on their functional activities and their areas of weakness. There is important information that researchers are finding out from the patients who are participating in this registry, which will help newly and yet-to-be diagnosed patients..
     Please click on the link to view this newsletter, and I urge those patients who have yet to register, to please do so.  Please feel free to send me a message if you need help.  I would be glad to help anyone who would need help with the registration.
Please email me at:  gne.myopathy@gmail.com

http://www.treat-nmd.eu/downloads/file/registries/GNE_HIBM/GNEM-DMP_Newsletter_April_2015.pdf

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