Ultragenyx and Audentes celebrated its Patient Day 2017 on April 22 in Novato, California. Approximately one thousand families, patients, and caregivers attended this event. The attendees came from scores of rare disease groups, including GNE Myopathy. There were brief speeches by the Mayor of Novato who welcomed all rare disease patients, then Dr. Kakis spoke about the "grace" with which rare disease patients accept and live with their challenges. Thereafter Lisa and Max spoke about how they lobbied for the 21st. Century Cures Act. I was inspired by Max, a very young child, and the many actions he has taken to make a genuine difference for rare disease patients.
This event was well planned by the sponsors and organizers with fun in mind for all participants. There was a live band,"Smash Mouth," many specialty cuisines, and diverse entertainment for kids. A group of GNEM patients and the CEO of the Neuromuscular Disease Foundation attended this event as well. I always look forward to meeting rare disease patients, especially GNEM patients. We were able to exchange and share tips on how best to cope with our ever present challenges. There is an unspoken understanding and innate knowledge of where/how each one of us needs assistance. I met parents, spouses, and care givers. I must also say that the event sponsors thought carefully and anticipated the many varied medical conditions of the attendees. They even thought to set up a "quiet space" for those who would like to take a break from the event or have a place to talk with to others. Without reservation, this was another successful event celebrating rare patients.
Photo credit to the Neuromuscular Disease Foundation
GNE Myopathy International (GMI) has recently updated and redesigned its website, which is now more patient-friendly. There are many helpful links, one such link distinctly shows actual devices being used by GNEM patients. Please send inquiries and comments to: http://gne-myopathy.org/
Upcoming Events:
The Neuromuscular Disease Foundation will hold their next annual Symposium on August 24 and 25 Please refer to the following website for more updates: .http://curehibm.org/welcome.html
Newsletters:
Here is a link for the 7th. Edition newsletter of GNEM-DMP. This newsletter contains a practical list of orthotics that could be helpful for GNEM patients. Also the newsletter has been translated into many major languages. https://www.gnem-dmp.com/Home/Newsletters
Related Pertinent Links;
Here is a short video on a GNEM patient. If you would like to submit your story please refer to: http://ultrarareadvocacy.com/patient-journeys/
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Here is an interesting article on a presentation in which Dr. Kakkis addressed the need for everyone in the rare disease community to take action: "You have to pull bits of information from all kinds of different people. You have to be able to tap into all the knowledge, brains and creativity to find solutions for rare disease patients.”
For more read: http://ctsi.ucsf.edu/news/catalyst-cures-ucsf-program-gives-hope-people-rare-diseases
An overview by Escala Therapeutics on ManNAc for 2017: In this document Escala Therapeutics mentioned that based on gene mutation prevalence, they anticipate that approximately 2,000 patients in the USA and ~ 40,000 worldwide will be diagnosed with GNEM. Link for this document
This is interesting article discussing the importance of advocacy groups and how pharmaceutical companies are helping them to lobby for treatments. http://khn.org/news/drugmakers-help-turn-patients-with-rare-diseases-into-d-c-lobbyists/
