Will 2020 be the year when we will have a viable treatment or will we be very close to a cure for GNE Myopathy?
I wish I had a "crystal ball" and the foresight to answer the above question affirmatively. What I know however, is that we are fortunate to have GNE Myopathy (GNEM) given the highest priority by The National Institutes of Health (NIH), Neuromuscular Disease Foundation (NDF), World Without GNE Myopathy (WWGM) and many well known researchers. The new year looks very promising for our GNE Myopathy community, as these institutions sole purpose is to expeditiously find us a cure.
Many within our GNEM community have been looking forward to this moment when we will be able to participate in the ManNAc trial, and now it's here. The National Institutes of Health (NIH) in Bethesda, Maryland has launched the long awaited Multi-Center Trial using MaNAc. A total of 51 patients will be recruited for this randomized "double-blind" study which will be conducted at various sites within the U.S.A. This trial will last for at least three years. See these links below for additional details:
2. What Makes You Rare:
Join the NDF and the rare disease community in honor of Rare Disease Day by highlighting what makes you rare! There is more to all of us than GNEM. You may share a photo of you using the poster (What Makes You Unique Rare?) on social media using the hashtag #whatmakesmerare. For more see this link: https://curehibm.org/get-involved/whatmakesmerare.html
The Neuromuscular Disease Foundation (NDF) continues to conduct Symposiums, Patient Days, monthly virtual Huddles, and webinars for patients and family members. As NDF strives to reach more and more patients around the world to increase the awareness of GNEM, it has launched a Podcast series where patients and caregivers openly share how GNEM is impacting their life. If you are interested in sharing your experience, please contact email@example.com. Here is a link to the first Podcast: https://www.youtube.com/watch?time_continue=21&v=ifKCfO02OMQ&feature=emb_logo
World Without GNE Myopathy (WWGM) has started a series called GNE Myopathy Conversations. For more, see this page :https://www.facebook.com/SupportGNEMyopathy/
1. Rare Diseases: Customizing Cures, Patient by Patient.
2. Four scientists with disabilities or chronic conditions share their conference conundrums and give advice on improving accessibility.
3. Gene therapy involves introducing genetic material into a person’s cells to fight or prevent disease.
4. Fighting the Cause of Alzheimer’s and GNE Myopathy Shreedarshanee Devi, Rashmi Yadav, [...], and Ranjana Arya.
**Over the years of living with GNEM, I have gradually cultivated some coping strategies to assist me with my many physical challenges that are ever present. Some of the coping resources I acquired over time and which I use to motivate myself are reading research articles on GNEM, novels, historical fiction, etc. When a quote or passage speaks to me, I hold onto it with cherished reflection and renewed hope, so here is a repeat quote from one of my previous blogs:
"When you put together open medicine, open access, open source, and open data- open -all sorts of new channels of research activity become available, and existing ones become exponentially more powerful."
(The Patient Will See You Now, by Eric Topol, p.211).