A Fellow GNE Myopathy Patient Discusses Her Activities as a Part-Time Patient Advocate

My Activities as a Part-Time Patient Advocate
By Shilpi Bhattacharya

Some of us came together to start GNE Myopathy International two years ago with the idea of uniting GNE Myopathy patients internationally to bring about greater awareness and to fight for a cure for our extremely debilitating medical condition. This endeavour has essentially been thanks to the efforts of Tara, Rushabh and my parents Professors Alok and Sudha Bhattacharya. We realised that to expedite a cure we must be united as a patient group. Initially our efforts were focused on bringing information to newly diagnosed and undiagnosed patients through our website www.gne-myopathy.org. Here we provide information about symptoms (in different languages), doctors, hospitals and disease management, like the use of assistive devices. We also review all possible future treatments for GNE Myopathy and which ones are likely to be more promising. Further, we have a wonderful collection of patient stories that we hope is also useful for new patients.

Subsequently we set up a trust called World Without GNE Myopathy (India) to fulfill the objectives of GNE Myopathy International in India. At the time that we started this, I was a Ph.D. student living alone in Europe and was struggling to balance my studies and life. I didn’t have much time for any patient advocacy or anything else, for that matter. I felt bad that I couldn’t socialise or participate in activities with my friends because I would invariably get tired. In India there is truly very little awareness about rare diseases but things are not so good even in more developed countries. While studying in Europe, not only was I unique for being the Indian, dark-skinned girl in a European university campus but I felt even more that I stuck out in the crowd because of my disability. I hardly saw any physically disabled people in any of the campuses I visited. It is sad that even with the better infrastructure and facilities available disability continues to remain ‘invisible’ and I still had to fight to make environments more inclusive, often missing out on opportunities because I wasn’t able to access conference venues or other locations.

A few months ago I moved back to India after completing my studies and now having a little more time on my hands, I have been able to contribute more to our organisation. This year was the first year that our organisation celebrated World Rare Disease Day. Our objective was to raise awareness about rare diseases. With this in mind, we organised an essay contest for students in India where we asked them to write about rare diseases and awarded a prize to the winning essay.  We also engaged in some face-to-face awareness raising at two malls in Delhi. We prepared a flyer with some basic information on rare diseases and distributed it to people at these malls. We also explained what rare diseases are to those people who did not know about them. We had a very good response with many people coming forward to offer help. It was nice to see that at least some people were interested and willing to listen and know more about rare diseases. I personally found it very fulfilling because unlike social media, we were able to engage with people at a more personal level through physical contact.

Like all rare disease patients I have been patiently waiting and hoping that a cure will become available to us soon. Scientific advancements have made it possible for us to reasonably hope that a cure is within our reach. Yet, low patient numbers make the process of bringing treatments to rare disease patients very slow. With this in mind we have also started advocacy efforts for enacting an Indian rare disease policy. As part of this effort, I wrote an article for an Indian national daily newspaper on the need for a rare disease policy in India. (http://www.thehindu.com/opinion/op-ed/the-draft-national-health-policy-ignores-rare-diseases/article8318356.ece) This is a crucial part of our mission at GNE Myopathy International since without government support it will be impossible to bring a cure for GNE Myopathy to patients.

We also organised a workshop (along with the Indian National Science Academy in New Delhi) on developing a scientific agenda for rare diseases. This workshop was planned and organised largely thanks to my father with the help of some of his extraordinary scientific and medical colleagues. The workshop was very well attended by doctors, scientists, patient groups, pharma companies, regulators and the media with people attending from different parts of India. This workshop was the first of its kind in India and brought together different stakeholders. It was wonderful to talk to doctors working on different rare diseases and other scientists working in the field. At the conclusion of the workshop I had the chance to speak about how while many of the concerns we face in the rare disease community are the same, yet some of our concerns are quite different. We must recognise our differences as a rare disease community if we truly want to come together to help each other. We are now in the process of drafting workshop recommendations that we will put forward to Indian policy-makers. These recommendations include policy suggestions and scientific and medical recommendations. We also want to coordinate with doctors to build a registry of GNE Myopathy patients in India. One aspect of concern to us in India is the large number of patients from economically backward regions of India who are likely going undiagnosed. This is something we would really like to change.

On a lighter note, we love travelling and want to work to raise awareness for making India a more disabled friendly tourist destination. As part of these efforts we were recently featured on a travel blog.http://indebo.com/blog/the-indebo-connect/interesting-stories/client-testimonials/agra-on-wheels/ We would like to be able to go everywhere on wheels!

This is the start of our fight to bring treatments to people with rare diseases. We need the support of the entire patient community to help fulfill the objectives of GNE Myopathy International, and World Without GNE Myopathy (India). We hope that you will all help us in whatever way you can.

Note:  Thank you Shilpi for sharing your GNE Myopathy journey thus far with us. I am amazed, and very encouraged that in a very short time you, along with GNE Myopathy International have made such impact, not only in India but worldwide.  I am encouraged because you have continued to make bold steps to educate all about our disease.  Thank you.

Clinical Trial to Start Soon for GNE Myopathy Patients Unable to Walk; A Patient's Role as an Equality/Diversity Advisor; Updates ad Reminders

Finally some good news for GNE Myopathy patients who are unable to walk will soon be able to participate in a clinical trial. This trial is sponsored by the bio pharmaceutical company Ultragenyx. The medicine that will be tested is Ace-er  i.e. Sialic Acid (SA).  To be eligible to enroll for the study, you must not have used ManNac or SA for the prior 60 days.  Ultragenyx will be recruiting patients in the United States, Bulgaria, and Canada.  Please refer to this link for a more detailed description of this upcoming trial.  Please share with those who may be interested in this trial.

 https://clinicaltrials.gov/ct2/show/NCT02731690?term=hibm&rank=5


I am very interested in my friends sharing their life experiences of what it is like to live with GNE Myopathy.  Here is a brief piece on Mona's work life.  Thank you Mona for sharing, and for being of service. 

I have been living with GNE Myopathy for 17 years and it has been a thoroughly challenging time.   In order to survive and thrive, I have chosen to embrace it.  This bittersweet journey has led me to find my calling…

I have been an Equality & Diversity Advisor at one of the best young universities in the world (Manchester Metropolitan University) for nine years.  Not only do I get the opportunity to work with the most awesome people, I also get to shape policies, promote fair practice and ensure that the organisation values diversity.  

Through my work, I work diligently to create an inclusive environment across the whole organisation and make a positive difference to the experiences of disabled people.  I am also an active member of my University’s Disabled Staff Forum run by disabled staff.  This forum aims to support disabled colleagues and acts as a discussion forum for relevant issues affecting their life experience at the University. Our staff networks help individuals find others who face similar challenges and allow group creativity to be used in seeking resolutions to particular challenges.

My passion for disability equality has enabled me to influence positive change outside of the University.  In collaboration with E&D practitioners and Disabled Network Leaders across the country, we have helped build a National Association of Disabled Staff Networks (NADSN). NADSN is a “super-network” that brings together disabled staff networks and groups across the United Kingdom and beyond.  We focus on the Higher Education Sector and are open to any organisations that wish to work with us to examine challenges, share best practices, and to enable disabled people to reach their full potential. 

To highlight the importance of supporting disabled employees so they can flourish, I co-authored NADSN’s first ever peer-reviewed article published in The Journal of Inclusive Practice in Further and Higher Education, Issue 7, 2016 (NADP). This paper helps to advocate the need to build disability confident organisations that bring benefits for all.

An Indepth Report on Phase 2 study of Sialic Acid

This is a recent report that includes an in-depth discussion of the Phase 2 study of the trial of Aceneuramic Acid-Extended Release tablets or Sialic Acid (SA).  I hope my summary of the study will give the patients who participated in this study a little insight into all the components that were tested.   I will try to explain what I understand from this report.  

In the Phase 2 study the researchers found that, based on prior knowledge of SA, that they need to develop the right formulation of this medicine in order for it to be effective.   The reason for this is that when SA is taken orally it is cleared quickly from  the kidneys.  Therefore, for the patients to achieve a steady and continuous level of SA in the blood, an extended release form (SA-ER) of the medicine was developed.  SA-ER has been shown to maintain steady levels of SA for 10-12 hours.
In this study about 62% were female and 60% were of Persian Jewish ancestry. The average age of the patients was 39.7 years, with an average age at onset of the disease was 27.6 years.  About 60% of these patients used orthoses, and about 50% used assistive devices for walking.

Various dosages were tried on three groups.  One group received 3 grams of SA, another group received 6 grams of SA and a third group received a placebo.  It was observed that those who took 3 grams SA lost upper-extremity strength similar to those in the placebo group, whereas those on the 6 grams program  showed improvement (the researchers note this improvement as "statistically significant"). Again, and later in the study, at week 48,  the group on the 6 gram program of SA showed improvement in upper extremity strength compared to those in 3 gram group.

In the study no significant changes were found in the blood tests for glucose, liver enzymes, and blood count. No changes were observed in the MRI scores that were taken at the baseline visit and at week 24.  In conclusion, this study showed that an oral intake of  6 grams/day of SA increased the free SA level in the blood by 2.6 times.

Since assistive devices such as ankle-foot orthoses, canes, and or crutches were used during the 6-minute walk test, these devices could have affected the measurement of muscle strength during ambulation in this portion of the test. Patients at various stages of the disease process were included in this study (early onset to the advanced stages of GNE Myopathy). In the conclusion of this Phase 2  Sialic Acid  study, the findings suggested that treating patients with SA at the earliest possible recognition (onset) of the disease may have the best results. 
My Note:  Because this medicine may prove to be effective at the earliest onset, it is extremely important to globally increase the awareness of GNE Myopathy, for patients to get accurately diagnosed, and, to start treatment as soon as symptoms are noticed.
Here is the link for this article:

http://content.iospress.com/download/journal-of-neuromuscular-diseases/jnd159900?id=journal-of-neuromuscular-diseases%2Fjnd159900

Reminders:
As part of mission we aim "collectively to cure GNE Myopathy",  our group in India will co-host a workshop for Rare Diseases in New Delhi, India from April 22-23, 2016: 
http://gne-myopathy.org/images/workshop22-23april.png

Please continue to participate in the Natural History Study at the NIH:  https://clinicaltrials.gov/ct2/show/NCT01417533?term=gne+myopathy&rank=7

If you have not registered yet,  GNE Myopathy patients, please register online:
 https://www.gnem-dmp.com/

Ultragenyx is still recruiting for the Phase 3 study of Ace-er (Sialic Acid)  in various countries and in various states in the U.S.
https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=6

Calling all European GNE Myopathy Patients For A Networking Event In France

Dr Anthony Behin and his colleagues from Lyon, France, would like to invite European GNE Myopathy patients and patient advocacy groups for an informal networking event:

Date of Event: March 16, 2016
Time of Event: 12 noon to 4.00 p.m.

Place of Event: Lyon, France

The purpose of this event is to bring patient advocacy groups and patients together to provide an update on the work they are doing, to network, and to connect with doctors and other GNE Myopathy patients.

This meeting is supported by a grant from Ultragenyx Pharmaceutical company that is conducting clinical trials using Sialic Acid.

   Here  is an outline of the meeting topics:
   Overview of GNEM

·       Prevalence of GNEM worldwide              

·       Patient Advocacy Support for GNEM

·       Current Resources for GNEM patients

·       Networking

I encourage any GNE Myopathy patients living in Europe to attend.  Please contact Dr. Behin if you need additional information and are interested in applying for a travel stipend, his email is  Anthony.behin@aphp.fr,

In addition, a patient with a neuromuscular disease who uses a wheelchair has offered to assist those who are attending this event, and need information regarding accessible travel and other logistics. Please contact her at:  maryze@pacesworld.com

Below is a sample of the registration form.

WEDNESDAY 16TH MARCH 2016FROM 12 NOON - 4 PM NAME: INSTITUTION/ORGANISATION: ADDRESS: TELEPHONE: EMAIL: ADDITIONAL COMMENTS:

A Moment in a Day of a Rare Disease Patient: "I Don't Want To Be An Inspiration Today"

Friends,

Kam, is a GNE Myopathy patient who depicts her challenges with this very disabling disease through her unique and very touching illustrations. All of Kam's drawings are inspired from her actual life including the progression of this extremely rare and debilitating muscle disease that took over her body at age 21. She went from kicking soccer balls and running to making use of canes, leg braces and now a wheelchair. This disease will keep going until it seizes every ounce of her body.  

Recently, one of her illustrations was selected by Rare Artist, a division of Everylife Foundation to be displayed during Rare Disease Caucus Week (Feb. 29-Mar. 3) on Capitol Hill in Washington, D.C.

Congratulations Kam, and here in her own words is a part of Kam's story.

My name is Kam Redlawsk and I am 14 years into this disease known as HIBM (GNE Myopathy). I am an Industrial Designer and an Illustrator. Five years ago I began using art to draw moments of everyday struggles and triumphs of HIBM. It was an attempt to expand my awareness advocacy for HIBM and to invite people to observe a small window of the intimate moments of living with such a rare and ultimately extremely debilitating condition. 

'I Don't Want to Be an Inspiration Today' is an illustration of a particular day, of a particular moment. One day when I was home alone I fell, like I so often used to do when I was still walking. My only option was to lay on the floor while I waited for help, and as I laid there feeling utterly alone I noticed the sun as it projected the shadow of the window upon me. At this time I was still walking - utilizing leg braces and a cane to assist my weakening and wobbly legs. And, in that moment, and moments like it, I felt the intimate and most personal expression that most people outside my helping circle never see. I see a lot of disabled public speaker's speak on how to be positive, how to keep going, which I think is very important, but rarely do I see them show the true side of what it is like living with a life altering disability and/or struggle. And I understand why, because it really is difficult to share your weaknesses. But I think this glazes over what disability is truly like and for outsiders it's a shallow perception of what “being strong” means. 

With all the advocacy work I used to do, more in the past then today, I would have genuine moments of frustration in being the “positive” figure and despite trying to move ahead and spread awareness what I was really thinking was, “I don't want to be an inspiration today, I just don't have it in me to make sure everyone else is ok with my disability”. I didn't want to be the one showing all this vulnerability so people could tell me what an inspiration I was, even though logically I understand why people say that. Because I say the same to others. But the times when people told me what an inspiration I was and then walk away and forget my disease and cause, I felt frustrated and alone. If people only saw the depths of the struggle in every single day, every single second, every single moment then they would have a broader understanding and empathy towards such a rare disease and try to help conquer it. I don't want to be an inspiration, I only want to get rid of this condition.

When I drew this I was struggling to continue walking and doing my best to not to succumb to the inevitable wheelchair in hopes that I would still be walking when human trials would come around. I never made it. I eventually gave into a wheelchair right before trials began. Today my legs are not only near paraplegic but HIBM has begun its work on my upper extremities. My arms, shoulders, fingers, hands and neck will fall to the same plight my legs have if treatment does not come soon.

Most all of my illustrations are built around HIBM. You can view more at: https://www.facebook.com/KamRedlawsk/

Rare Disease Day Events Around The World, Registry,Recruitment And Gene Editing Technologies

February 29 th. 2016, will be the ninth annual Rare Disease Day that will be observed around the world. There are over 7,000  rare diseases, and communities around the world will be conducting various events to bring attention to the plight of patients living with these rare diseases.  Our hope is to raise awareness and improve access to treatment both for patients and their families. I would like to give  a great big "shout out" to Team India (World Without GNE Myopathy,India) for coming up with an essay contest to raise awareness among the youth population.
Here are some of the events that have been scheduled.

Canada:               http://www.rarediseaseday.org/association/4

India:                    http://www.rarediseaseday.org/event/india/975

Israel:                   http://www.rarediseaseday.org/country/il/israel

Morrocco:             http://www.rarediseaseday.org/event/morocco/796

United Kingdom:  http://www.rarediseaseday.org/association/60

United States:      https://ncats.nih.gov/rdd

                             http://rareadvocates.org/rdw/

Here is a more comprehensive  link to a map that includes specific events in respective countries around the world: http://www.rarediseaseday.org/events/world:
Reminders:

Registry for GNE Myopathy Patients:

Previously, I know that some patients may have had difficulty understanding all the information/questions regarding giving "consent" to the Registry, as it was printed only in English. Currently information about what is collected in the Registry have been translated in eight other languages to give you a better understanding.  Please register if you haven't registered already. See link below

http://www.treat-nmd.eu/gne/patient-registries/international-registry/

**What is a patient registry and why do we want to create one?
"When a clinical study or trial is being planned, it is very important that patients suitable for that trial can be found and contacted quickly. A registry is like a bridge connecting patients and families with doctors and researchers who are trying to understand and treat the disease by making sure that patients’ details are all collected in a single database or “registry”. TREAT-NMD network and Ultragenyx Pharmaceutical are creating this international registry for people from different countries who have HIBM".
**Ref. from treat-nmd. registry's site.

Many Sites Are Still Recruiting Patients For Sialic Acid Phase 3
https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=4

Gene Editing (from GNE-Myopathy International Site)
Gene editing means changing the DNA sequence of an organism (such as human) in situ, that is, within a living organism. This technology has the potential to change any sequence (like a mutation) in a patient’s DNA and convert it back into the normal sequence . Several types of gene editing methods have been developed in the last decade.   For more information, please refer to:  http://gne-myopathy.org/research.html

Guest Blogger Andrew With Kelly Ma a Parlimentary Candidate With GNE Myopathy Living in Taiwan

• Guest Blogger:  In the last few days of December 2015, my son Andrew  had the opportunity to meet with the charismatic Kelly Ma of Taiwan.  I asked Andrew to be the guest blogger for this blog. 
• 

       Kelly Ma, or  KAI-NI, Ma (馬凱妮) as she is called in Taiwan, is a beautiful, energetic, devoted mom and student pursuing post-graduate study in Public Policy, and is living with GNE myopathy. Kelly Ma has been nominated by the Social Welfare Party as a Parliamentary candidate. Kelly Ma has been tirelessly campaigning for the past three months to educate and spread awareness of what it is like to live with a disability. Her focus is on social welfare for the disadvantaged, disabled, and elderly people in Taiwan.

                  Not only is Kelly Ma afflicted with this debilitating muscle disease, she has two older sisters who are likewise affected, Jing Ying Ma (馬晶瀅) and Joy Ma (馬景英). As far as she knows, no one else in her family's history has shown signs and symptoms of GNE myopathy. She is well aware of the progression of this disease as she has seen her eldest sister getting so much weaker that she now needs a full-time caregiver. 

                   During my visit Kelly guided me through her beautiful city of Kaohsiung on the West Coast of Taiwan, where she is currently running for public office under the Social Welfare Policy. Awareness and public policy relating to disability is very minimal in Taiwan, and in between raising her two sons, Kelly Ma  works tirelessly to promote awareness and support the growth of policy reform for individuals with disabilities. Kelly is still walking makes a daily effort to visit many places within her city to build a strong community, and campaigns on behalf of those individuals without representation within Taiwan.  

                During the last three months, Kelly Ma has eagerly taken to the streets to ask for voting support in the coming Parliamentary Election on Jan. 16. Kelly hopes that through her campaign and her promotion of public policy, future generations living with disabilities will have an easier time in life as active members of the community.

               Kelly Ma discussed with me her plans to set up a Taiwanese branch of GNE-myopathy International. She plans to set this up in order to find more GNE myopathy patients in China and Taiwan. She is not aware of any other patients with GNE myopathy in her country besides her two sisters..
•          Kelly Ma also states that disabled people in Taiwan undergo hardship in every aspect of life. And so, the disabled should enjoy at least the same basic human rights as anyone else. If elected, Kelly would call for the central government to reform and strengthen their social welfare policies for all disadvantaged persons, especially for patients with rare disorders. 
• 
         PLEASE VOTE FOR KELLY MA if you live in Taiwan, as her capability will be beyond any job description any other candidate could offer. She has devoted herself to helping the elderly, disabled, and those with rare diseases. 
• Links with news on Kelly Ma 
• http://udn.com/news/story/7876/1420815
• http://ctee.com.tw/mobile/NowNews.aspx?nid=20160104003931-260407&ch=jj

Note:  Guest Blogger Andrew Ananda is an installation artist who is very informed about GNE myopathy as he has many family members who suffer from GNE myopathy.

• http://www.andrewvoogel.net/news/

Recap of 2015 and Hopes For The Future for GNE Myopathy - A Cure Yet!

Dear friends, family, and readers:
Thank you for continuing to follow my blog and supporting me in various ways.  I appreciate your attention, communication, and friendship.  Ever since I started writing on GNE myopathy, I have attempted to write about the latest research and have sought to expand  public awareness of our rare disease by attending various conferences and by meeting with as many patients as my physical ability would enable.
This year I have been fortunate to attend many functions of the Rare Disease  community. Ultragenyx and the Neuromuscular Disease Foundation (NDF) have sponsored patients' day at which I was able to meet and socialize with many patients. When I meet fellow patients, I am usually touched and inspired by the manner and grace they manage their challenges. The NDF hosted a Gala in Los Angeles to honor two  GNE myopathy researchers Dr. Argov and Dr. Rosenbaum. Many patients shared their experiences of what it is  like to live with this debilitating disease. 
This is the second year I have attended the Global Genes Symposium that is held annually in California.  I learned many research related details on the process of drug approval, patients' registries, and advocacy within the rare disease community.  This year was very productive because more patients were getting accurately diagnosed.  The Sialic Acid and ManNac trials are active clinical trials that are in full swing, and these are good reasons to celebrate!
Additionally, I have been working to increase the awareness of GNE myopathy, and I would especially like to thank  Ms. Dina Albanese from SmithSolve  who helped  me with this effort. She has been or sending out the story of my family to various web sites, and publications.  The latest publication of my story is featured in the Fall Newsletter of the Myositis Association.  Thank you Dina and SmithSolve for helping us in this endeavor.
My story is on page 11 of this newsletter. http://www.myositis.org/storage/documents/Newsletters/2015/web_-_TMA_Fall2015_Newsletter_SINGLE_PAGE_FORMAT_151027.compressed.pdf

http://smithsolve.com/about/

http://gne-myopathy.org/
I want also to congratulate our team in India (gne.myopathy.org) for successfully establishing their nonprofit status.  Our India branch sponsored a Disability Day by distributing flyers and giving presentation to various businesses and educational institutions.  Any patient or patient's group are welcome to become a member of  our international site. 

Gene Therapy:
Dr. Darvish and Associates are prepared to begin gene therapy Phase 1 and Phase 2 clinical trials for patients with GNE myopathy.  They have already filed a new Investigational Drug application with the FDA.  They have also been working tirelessly to secure five million dollars to begin these trials.  We expect this gene therapy to be more effective than the other treatments that are currently being developed.  Please circulate and forward this information worldwide to investors who may be interested in this venture.  For more information, contact Dr. Darvish at ddarvish@hibm.org.

Sialic Acid Clinical Trials:
Extended phase 2 continues.  This study is continuing to evaluate fifty six patients who are on  Sialic Acid tablets.  Data published previously on this group reported increased strength in  their upper extremities. This study is not recruiting new patients.

Phase 3:  This study is still recruiting patients with GNE myopathy in a trial for Sialic Acid tablets in  the U.S, Canada, United Kingdom, Israel, and many other countries. The researchers have changed the age limit to 55 from 50.  Please ruse  the following link to contact the recruiters.
 https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

ManNac or DEX-M74
The National Institutes of Health in Bethedsa, Maryland, U.S.A., has completed  the Phase 1 study with ManNac.
Here is some  information that researchers observed in Phase 1, which I think is quite encouraging:  "The intracellular localization of GNE and the sialic acid pharmacokinetics profile provide evidence that ManNAc (derived from oral DEX-M74) was metabolized intracellularly in subjects with GNE myopathy, a favorable location for this sialylation-increasing therapy. The fact that ManNAc concentrations returned to baseline within 12-24 h post-dose and sialic acid levels remained increased at least 48h after single oral doses of DEX-M74 allow for 1-2x daily dosing in future multiple dose studies."
http://www.neurology.org/content/84/14_Supplement/P7.061

Phase 2 ManNac (DEX-M74)
Phase 2 is still ongoing with fourteen patients being treated with ManNac. See the following link.
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

New Link for Ultragenyx
Ultragenyx, the biopharma company conducting the Sialic Acid trials has a new link that will help patients, caregivers and doctors learn more about GNE myopathy, Please refer to this link.  http://gnemyopathy.com/about-us

I keep learning and growing from attending these educational and patients' day events.  I have met many patients with varied rare diseases, with challenges that make mine feel quite tiny in comparison to theirs. The inspiration or 'take away' I leave with from these functions is that we all are seeking a CURE.  With this desire we continue to travel far and wide to connect with patients, researchers, technologies in the fervent hope that a cure will be discovered. I look forward to meeting more of my fellow GNE myopathy patients and learning more about our disease in 2016.  Have a healthy year.

As Judy Garland would say: "Always be a first rate version of yourself, instead of a second rate version of somebody else."

“Life is like riding a bicycle. To keep your balance, you must keep moving.” - Albert Einstein

World Disability Day, Lunch with Dr. Argov, and Israeli Patients' Group Site

The United Nations will be observing The International Day of Persons with Disabilities (IDPD) on  December 3, 2015.  This day has been commemorated since 1992 to increase awareness of persons with disabilities worldwide.  Since gne-myopathy.org is an international organization that consists of families and patients with GNE-Myopathy, we are taking this opportunity to promote the awareness of our disease as well as its related disabilities.
Our team in India will be sending out posters to schools, colleges, and offices in the Delhi and Mumbai areas.  They will also post this poster on community bulletin boards.  In addition, there will be some planned presentations on the subject of disability.  These activities are supported by the generous contribution of World Without GNE-Myopathy-India (WWGM).  Please feel free to print this poster and distribute it within your community.

Poster

United Nations Site

http://www.un.org/disabilities/default.asp?id=1637

Dr. Argov will be visiting the New York area, and the Neuromuscular Disease Foundation is inviting patients, caregivers, and families to have lunch with Dr. Argov.  Please register as soon as possible.  Here is the link to the announcement and  further details.

Invitation

http://events.r20.constantcontact.com/register/event;jsessionid=9CC917B936EFD37080E7A0A71FFC131C.worker_registrant?llr=5ukeofsab&oeidk=a07ebv4201079e7718f

Israeli Patients' Group

GNE Myopathy patients in Israel have started a private Facebook support group. The group will communicate in Hebrew so that patients and families who are not fluent in English will have a better understanding of our disease. The group's goals are to support patients regarding their governmental rights,and will also discuss current  research, medical devices,and list relevant doctors. The Facebook support group will create a space where patients will feel emotionally supported, and  information about GNE Myopathy will be shared. The group will also strive to build a big lobby in Israel to increase awareness of our disease.  Therefore, if you are living in Israel and have GNE-Myopathy/HIBM or you are a relative or a patient, we encourage you to join our group. Please ask Maya or Mickey to add you.

https://www.facebook.com/groups/1544523909170865/

Compendium: NDF Black and White Ball, Rare Disease Report Short Video, GNEMP Newsletter, Israeli Support Group and Chinese Patients

The NeuroMuscular Disease Foundation (NDF) held their annual Black and White Ball, and Fundraiser  at the Beverly Hills Hotel in Los Angeles Ca..  There were approximately 400 in attendance.  I, along with other patients, attended this special event.  We were well entertained with comedian Tim Homayoun and the Master of Ceremonies Steve Mittleman.    Lale' Welsh, along with her staff, were very attentive to every detail of this evening.  A delectable dinner was served. 
This event was to honor Dr. Argov and Dr. Rosenbaum, and to raise funds for the research and cure of Gne-myopathy.  Jennifer Y., a fellow Gne-myopathy patient gave a very moving speech  Some patients also shared their experiences of what it is like living with Gne-myopathy. The flawlessly exquisite evening could not have been possible without Lale' Welsh (CEO), her staff, and  scores of NDF ambassadors who have worked to increase the awareness of Gne-myopathy. It is very remarkable that the love of a mother for her daughter has blossomed into the NDF and the community continues to nurture this love.

The Rare Disease Report made a short video of me speaking when I attended the Global Genes Summit recently.

https://www.youtube.com/watch?v=XrJUONgNhb8&feature=youtu.be

Here is a the most recent Newsletter from GNE-Myopathy Monitoring Program.  It is very informative and features  a Gne-myopathy patient from Brazil, foods rich in Sialic Acid, as well as the  various centers that are now recruiting for the phase 3 Sialic Acid trial. Please consider participating if you meet the criteria. Please refer to this link:
http://gnem-dmp.com/ht/a/GetDocumentAction/i/1681

Here is a link for the Israeli Gne-myopathy organization which I recently came across on the internet:
http://www.hibm.org.il/english/

I really think that getting accurately diagnosed is a big challenge for Gne-myopathy patients as my family has experienced first-hand.  In recent years, however it has become much more easier to get diagnosed which is done by a (buccal) saliva kit.  Recently,I have discussed an article that I thought would be useful to post this article again in the hope that more undiagnosed patients would consider getting tested for Gne-myopathy. This article states that "The unrecognized high prevalence of GNE myopathy (~ 40,000 patients worldwide; ~3000 patients in USA, instead of previously estimated ~ 400) confirms suspicions that many patients escape diagnosis".
Here is the link for the abstract:.
http://www.neurology.org/content/84/14_Supplement/P2.044

Finally, I understand that there is a large group of Chinese patients in Mainland China.  If you are a patient or doctor in China, Please contact some of the organizations working on treating and finding a cure Gne-myopathy.  Please reach out to me or go to gne-myopathy.org and access the flyer written in the Chinese language. Here is an abstract of 35 patients who were studied:   http://www.sciencedirect.com/science/article/pii/S0022510X15002385

Neuromuscular Disease Foundation Honorees Dr. Argov and Dr. Rosenbaum

The Neuromuscular Disease Foundation will be hosting a Black and White Ball on October 14th. to honor two doctors from Israel  Dr. Argov* and Dr. Rosenbaum**. These doctors have done significant work in the area of Gne-Myopathy.  The NDF will also have a fundraising at this event to help towards funding a cure for this disease.

Please share this link of the event to help us to increase the awareness and funding of Gne-Myopathy.
http://www.eventbrite.com/e/ndf-black-white-ball-2015-tickets-18175871521

 Professor Argov’s main focus of research has been in Jewish hereditary neuromuscular disorders. He first described the seminal features of GNE myopathy in Persian Jews in 1982. Thirty years later, in association with Dr. Stella Mitrani-Rosenbaum, they identified the gene defect in HIBM.  This prolonged collaboration has done much towards understanding the mechanism of GNE myopathy (HIBM) and in developing ways to treat it. 
 Dr. Mitrani-Rosenbaum is widely known for discovering the gene responsible for GNE Myopathy (HIBM) in 2001.  Her lab is now dedicated to research on this condition, and continues to study targets for potential treatment