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.
https://clinicaltrials.gov/ct2/show/NCT04231266?cond=GNE+Myopathy&draw=2&rank=1
https://neuronext.org/projects/nn109-magine
GNE Myopathy is a rare disease and during the month of February there are many events to commemorate all rare diseases worldwide. This year we will celebrate Rare Disease Day on February 29. Here are some activities that you may want to participate in:
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
Recent News
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 info@curehibm.org. 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/
Of interest to our GNEM community is a Symposium that will be held at the Sanford Burnham Prebys Center. There will be many presentations on Congenital Disorders of Glycosylation, hosted by Dr. Hudson Freeze. A well known GNEM researcher from the National Institutes of Health, Dr. M. Huizing will present on the "Basic Science and Clinical Results of ManNAc Therapy in GNE Myopathy."
For more on this Symposium check this link: https://www.sbpdiscovery.org/calendar/2020-sbp-rare-disease-day-symposium
2. What Makes You Rare:
Recent News
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 info@curehibm.org. 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/
Recent GNEM and Gene Therapy Articles
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).
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).
