LA Mayor's Office Acknowledges the NDF's Advocacy with GNEM

Wednesday, February 23, 2022

Rare Disease Month, Upcoming ManNAc Trial, Pertinent GNEM Research, and Learning Resources for GNEM

  • "Life is an opportunity, benefit from it.  Life is beauty, admire it.  Life is a dream, realize it." - Mother Teresa   
  • Rare Disease Month
    Friends, I want to wish you all a very healthy and hopeful 2022.  February is our month, the month when we observe and celebrate Rare Disease Month and Rare Disease Day.  GNE Myopathy is one of more than 7,000 rare diseases.  February 28, 2022 is Rare Disease Day, It is a day to bring awareness to all rare diseases including GNEM.
Rare Disease Day Activities on the Ivory Coast 

GNEM Advocates from our community are bringing a global spotlight on GNE Myopathy this year. GNEM Advocates worldwide including those from Israel,Ivory Coast, India, U.S.A. and Turkey are involved in an awareness campaign to increase public knowledge of what it is like to live with GNEM.  Please see this link for many  GNEM activities.  Facebook Group for Indian activities.   If possible, "help show your stripes", and support this day by checking out activities taking place in your area at Rare Disease Day website..

GNEM Research

There are a number of impressive and encouraging developments in progress for GNEM.  Although, there has been a pandemic for a while, it does not mean GNEM research is on break. As a matter of fact, the researchers continue their studies in order to find an effective therapy for us. Here are some positive updates on current research progress and upcoming research projects for GNEM. 

1. The Multi-center Study of ManNAc for GNE Myopathy (MAGINE) is estimated to start on February 28, 2022.  This study will last for approximately two years and will recruit fifty-one GNEM patients.  Link for more details.

2. World Without GNE Myopathy (WWGM) has received funding from the government of India to start a research project for a potential treatment for GNEM.  Read more at WWGM Facebook Page

3. Neuromuscular Disease Foundation (NDF) which is at the forefront to bring about a cure for GNEM, is working on a pre-Investigational New Drug, a required step towards conducting necessary studies before treating patients. Link for detailed information.

4.  Research  continues by Dr. S. Mitrani-Rosenbaum on the "Status of GNEM Mouse Model, "Pre-Clinical Assessment of AAVrh74MCK GNE Viral Vector, Therapeutic Potential Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy."  Link for this article.

5.  ProDGNE plans to develop a "substrate replacement" to treat  GNE Myopathy.  This project is in the early clinical stage.  Link for more on this research.

Links to GNEM Learning Resources:

NDF Speaker Series.

World Without GNE Myopathy

Published article on Phase 2 ManNAc results.

As part of bringing awareness to GNEM, my family's story was profiled on Rare Disease Day website.

Thursday, December 31, 2020

2020 GNEM Events, Leading GNEM Expert from the NIH Joins the NDF, Snapshots of GNEM Patients, Ongoing Support Groups, and Clinical Trials

"Patients are the ultimate end users of medicines..." 1

As we bid farewell to 2020, we can  agree that it has been like no other year that we can compare to in recent history. Covid-19 has caused a worldwide crisis and has taken its toll on our healthcare systems, businesses,and created massive layoffs. Needless to say, our rare disease community has not been spared. 

For our GNE Myopathy community clinical trials and laboratory research have been put on hold. This year has brought on an onslaught on many fronts, and many in my community continue to suffer and experience the decline in our mobility, our strength, our physical independence, but yet we hope.  We hope for a cure!

Even though this year has been the most challenging for those of us who live with  GNE Myopathy we have been quite fortunate to have the two major GNEM organizations continued support. The Neuromuscular Disease Foundation (NDF) and World Without GNE Myopathy (WWGM) pivoted and presented their in-person programs such as Symposia, Patient Day, Art Gala, and scientific conferences on various virtual platforms.  

In many regards the NDF and WWGM were able to attract more attendees with this format of virtual programming than  the in-person events. This in, and of itself has helped these organizations to bring cutting edge research, most recent updates, and GNEM researchers to present their findings to more patients than ever before.

The NDF started with a Speaker Series which ran for 16 weeks.  These Series were attended by patients, family members, researchers, and care partners from all over the world.  All of these recorded  Speaker Series and PDF files can be accessed here:  https://curehibm.org/news-events/2020-gnem-speaker-series.html

World Without GNE Myopathy (WWGM) hosted their third annual scientific conference on July 25 and various  artistic events. More information on this conference and other events could be accessed here:  http://gne-myopathy.org/ or on their Facebook page.

Leading GNEM Expert Joins the NDF

Dr. N. Carrillo 

Although this year has been quite challenging, our community was excited to hear that Dr. N. Carrillo, a leading NIH expert on GNE Myopathy will be working as the Chief Medical Officer for the NDF. More on this news can be accessed at this link.


Snap-Shots of  GNEM Patients 


My name is Yulia, I am 38 years old and I live in St. Petersburg, Russia.  As long as I can remember, I have always been active and cheerful.  I loved to run, jump, dance. I was very athletic and was in the top three in my class amongst girls.  

Everything seemed to be going well in life for me, I got married to my love and subsequently was very fortunate to give birth to my son. Soon after my son's birth I felt something was wrong with my legs. I noticed that I was walking like a duck. In addition, I was having difficulties climbing stairs, then I found out that I could not run. I was very shocked that I just could not run and it became more and more difficult to walk. I felt as I was walking someone was pulling me back with a rope. No matter how hard I try to take a step forward, I felt that I was being pulled backwards. 

I felt strange and could not understand the reason for my body to respond in this manner. I took numerous trips to doctors but they were all useless, yielding incorrect diagnoses. The doctors said that it was something to do with my back, or that I need to walk more, play sports, or swim. I could not find a doctor who knew what condition I have. The doctors would look at me and say something like, "Yes, it may be the back, or not the back because it should not cause such deterioration in your gait and the inability for you to run and jump." 

After four years of going to many doctors, finally one doctor suggested that it was myopathy or myasthenia gravis. With my diagnosis being narrowed down to two diseases, I was able to get a confirmed diagnosis of GNEM. Now, 3 years later, it became clear that it was GNEM.

 When I received my diagnosis I felt very scared. At first, I cried and cried and ask questions like, why me, how could this happen to me and so on.  I took time to  come to terms with my diagnosis and realize that life must go on. I have only one life and I want to live it as well as possible.

Of course, the quality of life has become much worse over time. I now work less but from home, which offers me the opportunity to be closer to my loved ones. I also gave birth to a second child and I am grateful that we now have two children. I appreciate every minute I spend with family.  I really want a treatment or cure to come sooner so it could have a chance to stop the deterioration process. This is my sincere hope.

My name is Enas and I live in Jenin, Palestine. I have six siblings and I currently work in the Ministry of Health. My symptoms of GNE Myopathy started when I was twenty years old and I received a diagnosis when I was twenty two years old.  At twenty five years old, I was one of the youngest females in my city to become involved in politics. I am admired for my strong and determined nature.  

 I remember very clearly when I received my diagnosis of GNEM, I cried so much that I felt pain in my heart.  At that time I did not know how to explain this disease to my family and friends.  I went through a myriad of different emotions within myself before I could tell my parents that I have this complete life altering disease. A sad part of living with this disease is that I was engaged to be married and the engagement was broken off once my symptoms became visible. I know this disease will gradually take away my physical independence.

As much as I was excited about sharing my life with a partner and in spite of the  disappointment I feel a strong determination to lead an active and meaningful life.  In the face of my condition, my life has been unfolding in many surprising ways such as, I now work as a radio presenter and I volunteer in an organization to help others with disabilities. 

In addition, I belong to a Stand-up Comedy group and have even performed live on stage. I am also a motivational speaker. Because of my various talents I am invited to schools and universities to talk about "Hope and Life" and share my thoughts on living with a disability.  I am admired for my strong and determined nature, as a result many young girls look up to me as a role model.

Although, I am actively involved with work and many social activities, I am still aware of the debilitating nature of GNEM. I know this disease will gradually take away my physical independence. Recently, I started using a wheelchair.  There are many of life's events that I would like to experience such as getting married and having a child but I am unsure how to face these situations when my body is getting weaker.  I try to live every moment and look at the lighter and brighter sides of my life.  If there is a cure I will dance throughout the night thanking God.

Links for Ongoing Support Groups:  

This  group meets on the second Sunday of each month and is open to all GNEM patients Support Group Huddles.

This Facebook group meets regularly in support of Care Givers/Partners/Family of GNE Myopathy patients.

Caregivers/Care Partners Group

NDF continuously strives to meet the "whole" person and has now initiated a new program to address the Emotional Wellness and Supportive Services for patients.

Carol Gelbard

This is a Facebook group for children of neuromuscular disease patients. 

Links for Upcoming Clinical Trials

Neuro Next 

Multi-Center Study of ManNAc for GNE Myopathy This trial will take place at many centers within the U.S.A. using ManNAc.

Efficacy Confirmation Study for NPC-09 This study will take place in Japan using Sialic Acid Extended Release tablets (SA-ER).

Recent GNEM Articles/Abstracts

Over the many years of writing this blog I continue to learn and grow in my understanding of rare diseases and more specifically GNE Myopathy. I want to graciously thank all the GNEM and Rare Disease patients who have reached out and share your journeys with me. Thank you for following, reading, and sharing my blog. Look forward to seeing you in 2021. 

Thursday, June 11, 2020

GNEM Events, Resources, and Being A Rare Patient During COVID-19

"Strength does not come from physical capacity.  It comes from an indomitable will."  Mahatma Gandhi

Hello readers and followers of my blog.  Like you, I am also coping and trying to understand what my new "normal" is, or will be like following Covid-19. For many in our GNEM community we were already practicing some form of "shelter-in-place" due to reduced mobility because of the limitations associated with GNEM. Despite our physical limitations we were still able to have some semblance of social interaction with others. Now, many of us feel isolated and fearful because of the high contagion factor of Covid-19. For me, I have not been able to go out for more than one hundred days to my aqua therapy nor the gym, and my fear is that I will be weaker once I resume these activities again. I know we are Rare Warriors and we will adapt and change to our new situation.
Most importantly, GNEM patients were expecting to participate in the long anticipated multi- center ManNAc trial and as a result of the global shutdown, we must wait even longer for this trial to start. For now, anyone who is interested in participating in this trial, if you have not already, please contact the specific site closest to where you live.  For international patients, you may contact the NIH Clinical Center.
Since, I have not posted any updates for a while. I want to bring you up to date with a list of events that has been taking place in our community. Every Friday the Neuromuscular Disease Foundation (NDF) has been hosting virtual GNEM Speaker Series in lieu of its Annual Symposium.  Recordings, pdf's, along with "key take-aways" information of past presentations could be found at this websiteMost of the speakers thus far are are currently involved with GNEM projects and research.   
Upcoming Events:
1.  On June 12, 2020 Mr. Klements will present on ManNAc trial: Background and Updates, you may register for this event at https://ndf.ticketspice.com/ndf-gnem-symposium-speaker-series-june-12-2020
2.  Registration Link for Calendar of Future Speaker Series.
Podcast Series Access 
3.  NDF Talks: A monthly podcast whereby patients,family members, caregivers and scientists share their thoughts on GNEM.
4.   A virtual monthly private support group continues to meet on the first Sunday of every month. This is a group where patients, families and caregivers share their hopes, fears, and offer support to their fellow participants. Click here for the registration link to the monthly Huddle meeting.
No photo description available.

On May 16, World Without GNE Myopathy (WWGM) organized a session on "The Benefits of Yoga for Muscular Dystrophy".  Mr. Mangaldharam Avishek a yoga expert who practices the tradition of Satyanand Yoga conducted this session. This was an introductory session on the holistic perspective on health as a combination of healing the mind, body and heart. He also shared the ancient wisdom of Ayurveda (natural system of medicine).  Finally, certain yoga poses were demonstrated followed by an extensive Q & A session.  WWGM believes that yoga could have powerful healing benefits that may be useful for GNEM patients and therefore will be offering more of these sessions.  To participate in one of these sessions refer to his Facebook page of Mangaldharma Avisek.

Links for Recent Articles(Abstracts) and Resources for GNEM:
On A Personal note:  Since I started writing my blog, globally I have attempted to find patients, doctors and others affected by GNEM. Again and again, I am pleasantly surprised when a patient contacts me because they have read or found my blog while trying to find out about GNEM. I do not how how many GNEM patients I reach with my blog since my blog platform does not differentiate between readers (patients and others).  Recently however, I was very delighted to hear from GNEM patients in Russia.  I feel touched, inspired, and encouraged to have made contact, and  by the fact that we were able to share and discuss our insights about GNEM. 

Wednesday, February 19, 2020

Multi-Center ManNAc Trial Soon to Start, Rare Disease Day Events, And Recent GNEM News And Research Articles

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:

Rare Disease Day Events:

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:

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."  

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/

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).

Wednesday, November 27, 2019

NDF Second Annual Art Gala Yields Incredible Results, International GNEM Scientific Consortium, & Upcoming Events

Getting ready for the Gala 
I am grateful and happy to be back writing this blog post after having two major surgeries, presumably unrelated to GNEM.

Thanks to the efforts and generosity of over five hundred and thirty donors, patients, scientists, and industry professionals the Neuromuscular Disease Foundation (NDF) has raised a total of $2.5 M in donations and pledges towards a matching grant. On Sunday November 17, 2019 the NDF held its second annual Arts Gala at the Skirball Cultural Center in Los Angeles, California, U.S.A. A gallery of beautiful photos of the Gala could be viewed here.
Skirball Cultural Center Setting up for the Gala 
Through this benefit event NDF raised the remaining balance to match the $2.5M challenge grant, bringing the total raised in grants, donations, and pledges in 2018 and 2019 to $5M. The Gala was sold out, as it has become a very important and popular event amongst our GNEM community and other stakeholders who are eager to get a cure for GNEM.  See Press release here
GNEM Researchers on Stage
The 2019 Gala featured work by talented artists, musicians, and honorees. There was a display of works by rare artists as well, loaned to NDF by the EveryLife Foundation.The event was captivating and joyful and everyone was treated to various  "epicurean" appetizers, dinner, music, dance, and comedy.  M. Etebar, a GNEM patient gave a unique and moving speech which can be viewed at NDF Facebook page at 1:10:00

Scientific Advancement Awardees 
Dr. N. Carrillo from the National Institutes of Health (NIH),  M. Minarich, CEO of Leadiant Biosciences and their team received the 2019 NDF Scientific Advancement Award for their work on ManNAc, a promising replacement therapy for those with GNEM. Additionally, the NDF presented five patients Maya D., (Israel), Mona P., (U.K), Kelly M., (Taiwan and China), Amy C., (USA), and Tara V. (USA)  with "All-Star" awards for various impactful work these dedicated patient advocates are involved with globally. The Etebars also were acknowledged for their dedication to raising funds with NDF's 2019 Philanthropy Award.

All Star Awardees 
Philanthropy Awardees
In addition to the Gala, the NDF held an International Scientific Consortium Meeting on Monday November 18, 2019, at the Marriott Hotel in Los Angeles, California USA.  More than thirty researchers and doctors came from different parts of the world to share, discuss, and present their data and projects.  These esteemed researchers are currently exploring various mouse models, substrates, vectors and re-analyzing patterns and data that may lead to a potential cure and or treatment for GNEM.
Scientific Consortium Meeting 
This special Scientific Consortium Meeting was open to patients, observers, and others with vested interest. These researchers came together to examine, discuss research projects and findings, and develop an action plan for how to move forward quickly with a cure for the patients. Here is a summary of many of the presentations. 

DisclaimerI am a GNEM patient and felt humbled and privileged to be present at this fascinating and deep learning event.  I am writing based on my understanding of what I heard, and I may have certain  inadvertent inaccuracies in my understanding.

1.  Dr. Carrillo from the NIH spoke on  the clinical trial for Phase 3 ManNAc. With ManNAc trial phases 1/2  (tested for safety and tolerability) they observed that ManNAc was processed into CMP Sialic Acid and enters into the cells to repair the pathway.  The longer a patient is uses ManNAc the more it increases stabilization of the GNE gene and has the potential to restore the pathway.   Additionally, they are learning important information from the Natural History study which was started in 2011 and is ongoing, which will help to show a disease progression model The NIH also has a large biobank of GNE samples which they would be willing to share with other GNEM researchers. The Phase 3 ManNAc trial is slated to start in the first quarter of 2020. Patients who have been using either Sialic Acid or ManNAc  for a year prior to the start of the trial will not be eligible. 

2. Dr. M. Huizing  from the NIH presented evidence for the various steps of ManNAc converting into  CMP sialic acid and the manner in which it enters and absorbs into the cells. 

3.  Dr. Darvish, a GNEM patient as well, and the CEO of  Orphina presented a treatment design model (H001) that he and his team has been working on for GNEM.  His team claims that they have completed safety testing on small as well as large animals. This treatment would use a non-viral supercoiled plasmid vector, repeat dosing is possible if once is not sufficient, and it would require vascular isolation of the limbs (arms and legs) with a tourniquet.  Dr. Darvish further claims that this treatment shows an increase in muscle fibers with lower immune response than the standard gene therapy.
4.  Dr. P. Martin from Martin Lab, Children's Hospital, Columbus, OH.  His lab focuses on the glycosylation in synapse formation  and research on muscular dystrophy.  He presented information on aav vector, mediated micro RNA, and intimated that we don't have a reliable animal model nor proof of concept in an animal model.

5.  Dr. M. Lek and A. Lek (both on the NDF SAC board)  discussed that their lab are conducting analysis on the samples they took from patients and families during various sponsored NDF Symposiums.  The findings will be shared with respective patients in due course.  Moreover, the Whole Genome Sequencing done by Perkin Elmer will examine if  there are gene/gene interaction of which this information will be available in the future.

6.  Dr. A. Bhattarcharya from World Without GNEM (WWGM), New Delhi,  India, presented information on their effort to further gene therapy.  Their organization gave out two grants earlier this year to researchers to explore cutting edge scientific projects that will expedite treatments for GNEM. Dr. Bhattarcharya postulates that  supplementing small molecules (endogenous source) may activate and restore mutant protein function at a molecular level. An Indian company has already developed aav vectors.

7.  Dr. O. Pogoryelova and Dr. Lochmuller from Lochmuller Lab, Canada presented on the "Newcastle" GNEM patient registry based on the Functional Activity Scale (FAS) and they argue that we need to "harmonize" all the registries.

8.  Dr. S. Rosenbaum,  Hadassah, Israel  discussed about  aav vector and that a stable mouse model is proving to be complicated.  Dr. Rosenbaum stated that we have no robust mouse model with the muscle phenotype, that the GNE gene is complex in the manner in which it attaches to the protein, and the GNE gene is responsible for two enzymatic activities. She further stated that she is currently working on aav platform to develop a vector and hypothesized that with systemic injections SA may enter the cells. She continued on to say we that have no real human proof of concept as of yet.
Drs. K. Crowe and W. Yoshioka  
9.  Dr. W. Yoshioka  and also a GNEM patient from Japan explained a project that her team is working on to isolate Sialic Acid from salivary glands, as saliva contains conjugated SA which may be a potential treatment. They are in very early stages of this exploratory work.

10.  Dr. N. Weisleder, Ohio State University, Columbus, OH, mentioned that his lab studies the various aspects of skeletal muscles and how repair could take place to damaged vacuoles/membranes.

Status of NDF Gene Therapy
The NDF's absolute focus is to expedite a cure for GNEM and has therefore engaged reknowned  researchers/scientists worldwide to this effect.  Many of the above mentioned research have in some part received grants or will receive grants from NDF. For a brief video on NDF's strategy on gene therapy please see this link:  https://www.youtube.com/watch?time_continue=4&v=LV19xElHBGg&feature=emb_logo

Disclaimer:  These are presentations made by participants at the NDF Scientific Consortium Meeting on GNE Myopathy on 11/18/19 and  some have not been peer reviewed.  NDF does not take a position as to whether the results are valid or reproducible.

My Take Away
I felt fortunate to be in the room, on the sidelines of this captivating Scientific Consortium Meeting, and to listen to these brilliant dedicated researchers discussing, engaging, arguing, and wrestling with their findings and potential experiments.  As I sat there absorbed  trying to make sense of the many medical and technical discussions, I couldn't help but feel an overwhelming sense of joy and deep pride knowing that these visionaries are on our side, fighting for us.  All of them are dedicated towards curing our disease.  We have many extraordinary "giants" working on GNEM and this gives me peace of mind. I also know that research, clinical trials, and finding cures take an incredible amount of time and diligence.  That is the nature of experiments. But I am heartened by these doctors' and scientists' willingness to interact with the people whose suffering they are trying to alleviate.  They have the courage to see us, not just as test subjects, but human beings in a fight for our lives.  For that I am grateful. 

Tune in to NDF's Podcast Series
Upcoming Events
1) Our monthly virtual Huddle 'Preparing to Expect the Unexpected" coming up on December 7. Register at this link:  https://www.facebook.com/NDF.HIBM/https://donate.curehibm.org/event/ndfs-patient-huddle-december-2019/e2572482)  

2) ManNAc trial- to begin early 2020.  Monitor site: https://clinicaltrials.gov/  clinicaltrials.gov

3) The NDF will debut a new monthly podcast series starting in 2020.The podcast will be posted at this link: https://curehibm.org/news-events/podcasts.html

Joseph Campbell from the Power of Myth:
"People say that what we're seeking is a meaning for life. I don't think that's we're really seeking. I think that what we're seeking is an experience of being alive, so that our life experiences on the purely physical plane will have resonances within our own innermost being and reality, so that we actually feel the rapture of being alive."

Saturday, April 27, 2019

Upcoming Symposiums, Patient Day, and Recent GNEM News

"There is immense power when a group of people with similar interests gets together to work toward the same goals."  Wealth for All: Living a Life of Success at the Edge of Your Ability, - Idowu Koyenikan

This year our community has been very busy planning more events globally, as well as in the U.S.A.  We are having Symposiums in Philadelphia, Israel, and a Patient Day in Mumbai, India.  In addition, grants for research have been awarded to researchers to facilitate and accelerate a cure for GNEM.  We are quite fortunate to have our rare disease get the amount of attention that we are receiving.  Please see the upcoming events and news listed below.

NDF Will host Two Symposiums in May, One in Philadelphia, and One in Tel Aviv
The Neuromuscular Disease Foundation (NDF) will host its Sixth Annual Symposium in  Philadelphia.  This symposium has a line-up of  well known GNEM researchers and scientists, including Dr. Huizing from the National Institutes of Health (NIH), D. Klements, Clinical Research Manager, Massachusetts General Hospital, and Dr. M. Lek, NDF Scientific Director.  There will be counseling and physical therapy sessions for patients and family members as well.  Please register here:

The NDF will also host a Symposium in Tel Aviv, Israel on May 29.  Among some of the presenters will be Drs. S. Rosenbaum, Z. Argov, M. Lek, A. Lek, and  M.Huizing. For more information and to register for this Symposium, please see this link:    https://donate.curehibm.org/event/ndf's-6th-annual-symposium-on-gne-myopathy-in-israel-patient-day/e217822

World Without GNE Myopathy (WWGM) Event in Mumbai, India, on June 2, 2019. 
World Without GNE Myopathy (WWGM) will hold a one-day event in Mumbai, India, on June 2, 2019.  For this event GNEM patients, researchers and industry professionals are invited.  Here is a sample of some of the sessions: GNE myopathy patient initiatives and Indian efforts in GNE myopathy, awareness, and treatment; NDF Patient Advocacy and Gene Therapy Progress; and GNE myopathy in the Middle-East.  For more about World Without GNE Myopathy, please visit this site:  http://gne-myopathy.org/#

Recent GNEM News

The NDF awarded 5 grants for GNEM Research and Programs for a total of $700,000.  These grants have been distributed to various researchers, who will  work to speed up GNEM gene therapy. Included in the total grants is also a gift to the National Institutes of Health (NIH) of $150,000 to help with the upcoming ManNAc trial for GNEM patients. For more details, check out this link to access the newsletter.

The NDF Launches a Monthly Patient Huddle

This is a peer to peer virtual support and mentoring group facilitated by GNEM patients. A wide range of topics are addressed at this monthly meet.  In the month of May the focus will be on "Trials and Tribulations of Toileting for Women Living With GNEM."
Please register if you would like to join:  https://curehibm.org/welcome.html

 The World Without GNE Myopathy Launched   A Center for  Drug Discovery (CDD)

 The CDD has been created to speed up discovery of GNEM treatments and other rare genetic diseases.  The CDD plans to fund strategic scientific research where there is a lack of research, in addition to funding targeted research that will bring about a treatment for rare diseases, such as GNEM.

The study details of an Open Label Phase 2 ManNAc in GNEM subjects could be seen at this link:

Website Listing Proposed Clinical Sites for Upcoming ManNAc Trial
NN109 Magine
Patients  who are interested in  the upcoming multi-center ManNAc trial may want to monitor this site:  https://neuronext.org/projects/nn109-magine

"We empower patients, build communities & drive forward momentum for rare disease globally."                                                 
I have been attending the Rare Advocacy Summit held by Global Genes for the past five years.  I have learned from researchers, caregivers, and patients on ways to share, empower, and network with my GNEM community.

After attending the first Summit, I came back with renewed hope knowing that I am not alone, my GNEM family is not alone, and that I have "giants" fighting for cures for rare disease patients.  If you are able to make this year's Summit, please register at:

"The marvelous richness of human experience would lose something of rewarding joy if there were no limitations to overcome.  The hilltop hour would not be half so wonderful if there were no dark valleys to traverse."  Helen Keller

Thursday, January 31, 2019

Show Your Stripes, Spotlight on A Rare Disease Patient, NDF's Events for Rare Disease Month, and Relevant Information

" View change as the one constant in your life. Welcome it. Expect it. Anticipate it."  Denis Waitle

                rare disease day show your stripes campaign
                                                            Show Your Stripes

In the month of February 2019 our rare disease community has been dedicated to bring meaning and increased global attention to  all those who suffer from over 7,000 different rare diseases.  "The zebra with its distinctive stripes, is the official symbol of Rare Diseases Month in the United States."  NORD is promoting specific ways that our community can show our stripes, here is the link: https://rarediseases.org/

Spotlight on a Very Rare GNEM Patient:
My name is Mel and I am a 32-year-old African-American with GNE Myopathy (GNEM).  I was properly diagnosed with GNEM in January 2016.  When I found out that I have GNEM, a progressively debilitating disease, I was very upset, frustrated, scared, and confused. I did not know what this disease was, although I know it was a life-long disease. I did not know how my life was going to be thereby affected, and WHY this was happening to me.  I am the ONLY person in my entire family living with this condition.  No one else in my family suffers from GNEM, which makes me a unicorn in my family.

My first symptoms began in my feet, “dragging or dropping” in 2012.  I was falling for no reason, my feet felt just like they needed someone to help me pick them up, just to walk! This was when I knew something was very wrong with me.  First I went to a podiatrist who did an MRI of my feet and told me that he saw a lot of atrophy in both of my feet, which is not normal, so that I urgently needed to visit a neurologist.

As a result of suffering from GNEM, I have lost many friends because people don’t seem to understand, or even want to understand the way this disease affects my body and how it limits me from doing many things that my able-bodied friends are able to do.

I sill feel very self-conscious when I am walking in public because people stare confusedly trying to figure out why I walk the way I do or why I have to use a wheelchair to get around in a department store.  Although this disease restricts some of my activities, I still try to lead as normal a life as possible.  I just don’t go anymore to clubs and lounges where many people are present. I would rather just go out to dinner, go to the movies, or spend time with friends, or visit simple places where fewer people go.
 My family’s reaction today is much more supportive and understanding now than they were in 2012 when I didn’t know what was going on with me.  The more I spent time figuring out what was exactly wrong with me, the more supportive my family became, once I explained to them the nature of GNEM.  Now I don’t have to fight or argue with them, for example when I say I cannot do something, or that I need help doing a certain task, they understand and help me now.  

My biggest fear is losing ALL ability to move my arms, hands, legs, and feet on my own resources. In the future, I hope that scientists will soon discover a cure to help ALL of us who have GNEM. We need our strength and mobility back, along with ALL of our independence, so we can get back to living like we did before we got GNEM that took over our life and moved itself in.  Here is a link to a beautiful story written about Mel:  

Photo credit, "Marvelousgotsole's" blog
Mel, I am very thankful that you agreed to share your story with me and graciously allowed me to post it on my blog. I can comfortably say that I have met many GNEM patients from many different ethnicities since my diagnosis, yet  I have met very few patients from our African American ethnic group. Is our African American group being misdiagnosed?

Rare Disease Month's GNEM Events Hosted by NDF
In the spirit of Rare Disease Month, the Neuromuscular Disease Foundation (NDF)  has planned activities focused on GNEM patients.  Among its many programs and projects, this year the Foundation has initiated two new programs for patients, families, and caregivers.  In keeping with its mission to improve the lives of people with GNEM the NDF has started a monthly support group and a biannual series of online seminars that address topics such as living with a chronic illness and the science/research behind GNEM.  Here are the links for  registration:  https://curehibm.org/news-events/upcoming-events.html

The NDF is hosting two events for GNEM patients in support of Rare Disease month.
1.  Patient Huddle, a virtual support group that focuses on Cognitive Health and Well Being which is only for GNEM patients.  Please register here to join: https://curehibm.org/news-events/upcoming-events.html
2.  Online Seminar Coping with Disappointment and Grief, facilitated by Dr. Gretchen.  You may register here for this session:  https://curehibm.org/news-events/upcoming-events.html

Other News regarding GNEM Since My Last Blog
1.  The NDF held its Gala in November 2018 and which was very successful in raising $.1.7 million towards its $2.5 million challenge grant.  
2.  In January, the NDF's Scientific Advisory Committee (SAC) met to review proposals submitted by  GNEM scientists.  The SAC will submit their reviews of these proposals along with their recommendations to the NDF's board for funding, which will take place in late February, 2019.
3.  The National Institutes of Health (NIH) is still planning to start its multicenter ManNAc trial this year.  Please check for the recruitment status and updates at this site:https://www.genome.gov/27567243/gne-myopathy-clinical-studies-at-nih/

"Fighting for a better quality of life is a constant.  You need to wake up each morning and ask yourself, how can my life be improved."  Surviving and Thriving with an Invisible Chronic Illness, Ilana Jacqueline