The Neuromuscular Disease Foundation (NDF)
will be hosting its fourth Annual Symposium on GNE Myopathy on August 24 & 25, 2017. This symposium is a two-day, fact-and fun-filled event in which patients will be able to get direct information from the scientists who are involved in GNEM research. This symposium is an event in which the largest number of GNEM patients will attend. This event is will be held at the University of California, Los Angeles. For more details and to register. http://events.r20.constantcontact.com/register/event?oeidk=a07ee1mmy6qf208993a&llr=5ukeofsab
Various Entities Within the GNE Myopathy Community
About 40 years ago, my family did not have these resources that are currently available to help, or even to know what was happening, to my eldest sister. Then we were all puzzled by her increasing weakness and the ultimate failure of her muscles to function. Currently, over forty years later, I am able to have have many resources to help me with my disease. I am very fortunate to be living at this point in history, at which time I can share with other GNEM patients who may or may not be aware of the many organizations and resources that are available to help us on this very trying journey of GNE Myopathy. I have put together a simple chart of the various organizations, companies, social media groups, as well as related blogs below.
(1) The National Institutes of Health (NIH) is located in Bethedsa, Maryland. U.S.A. is the nation's foremost research institute for various rare diseases. Dr. N. Carrillo and her team are conducting the ManNAc and Natural History study trials. Please refer to this site for more information.
(2) Ultragenyx Pharmaceutical is conducting clinical trials for various rare diseases, including using Sialic Acid for GNEM. In addition, they are also conducting a GNEM Disease Monitoring Program. Here are some links associated with Ultragenyx Pharmaceutical:
GNEM Disease Monitoring Program
John Walton Muscular Dystrophy Centre
Patient Advocacy at Ultragenyx
GNE Myopathy in Focus
(3) Advancement for Research Myopathies were started by Drs. D. Darvish and B. Darvish. Both are GNEM patients. For more on their research, please refer to this site.
(4) The Neuromuscular Disease Foundation (NDF) was founded in 2006 by Ms.G. Mikail and is currently the world's leading foundation supporting research and funding for a cure for GNEM. For more about the NDF and their activities,visit this site.
5) GNE Myopathy International (GMI) was cofounded by a group of international patients and family members to generate awareness about GNEM globally. For more about this organization, this is the site.
World Without GNE Myopathy was later set up as a trust in India to raise funds in support of the activities of GMI.
(6)Various private and closed media groups are located in many countries and are available in many languages. In some of the countries these groups are located are India, Italy, Israel, and the United States. There are a few governmental funded organizations such as the one in Japan (Patient Organization for Distal Myopathies), and there is an Italian nonprofit organization as well.
Here are two blogs written by GNE Myopathy patients and their links:
Challenges Living with HIBM
Thoughts on living with HIBM
(7) The Neuromuscular Disease Network (NMD) is like a hub for many neuromuscular diseases and is set up to ensure that the most promising therapies reach patients as quickly as possible. Check out this site and read more about GNEM.
The National Institutes of Health continues to enroll patients for their Natural History Study. It is very important for GNEM patients to participate in this study, as it will help to inform researchers and patients about the etiology of GNEM. It is critical that we participate as it is vital for us to get a cure.
This study will collect genetic and medical information, some tests of which will include muscle strength, blood, and urine samples besides heart and lung function. After the initial visit, participants will return every 6 to 12 months for followup visits. Link for more information and how to participate.Phil Cammish the editor for the GNEM newsletter at the Neuromuscular Disease Network (NMD) is inviting caregivers to submit their story of working with or living with or caring for a GNEM patient. Here are some points you may consider addressing in your submission:
*Type of level/support have changed or adapted from time of diagnosis to now.
*Level of support you offer to the patient.
*Challenges you are faced with in terms of assistive devices and resources for the patient.
*Any support you received from organizations etc.
*Advice you would give to other caregivers.
Please submit your story along with your name, location, and photos by July 31. Click on this link for additional information or contact the editor.
"One Who Gains Strength by Overcoming Obstacles Possess the Only Strength Which can Overcome Adversity." Albert Schweitzer
