Meeting my Congressman

Thursday, July 6, 2017

Amy, A GNE Myopathy Patient - My Personal Goal is Advocacy

                     Here in her own words is my friend Amy's narrative on advocacy.

              As a patient with GNE Myopathy, I started 2017 with a bold New Year’s resolution.  I wanted to use my spare time as a patient advocate for both GNE Myopathy (GNEM) and all other neuromuscular diseases.  As a patient advocate program manager with the Neuromuscular Disease Foundation (NDF), my time is spent working on increasing awareness for GNEM.  In January, I applied for a position on the first ever National Community Advisory Committee within the Muscular Dystrophy Association (MDA). I was accepted onto the committee with 14 other people across the nation!  At the same time, I also signed up for the 2017 MDA Advocacy Conference in Washington, D.C.  I never imagined I could accomplish so much in so little time!
                The MDA Advocacy Conference was designed to help us prepare to meet with our congressmen and/or their staffers.  We heard from policy advisors who explained, in detail, what we were going to advocate for in Capitol Hill.  Subject area experts also spoke on advocacy and why it is so important to our community. The Scientific Program Directors, who are in charge of specific neuromuscular diseases, spoke of the diseases in their purview and offered up time afterwards for audience members to speak with them one on one. 
                As a group of advocates, the MDA stressed 5 specific items that we would be advocating for at Capitol Hill this year: NIH funding, FDA funding, newborn screening funding, healthcare reform, and accessible air travel.  The explanation behind the process helped me, as a first timer at Capitol Hill, understand the importance of all members advocating for the same items.  Hundreds of members with the same message with have a greater impact than hundreds of members with different messages.  We are greater together as a whole.  Each year, the MDA will choose the items that are most important to advocate for patients with neuromuscular diseases and their families. 
                In this year’s political climate, we needed to advocate to keep the funding to the NIH to at least the same level as it was in years prior.  For FDA funding, we were advocating for a 3% budget increase to the FDA in fiscal year 2017.  For the National Newborn Screening Programing, we were advocating for budget increases in both fiscal years 2017 and 2018.   In terms of healthcare reform, there were two general items we were advocating for to the congressmen.  We were asking our congressmen to include protections that ensure that coverage is affordable, accessible, and adequate and understandable.  Also, we were asking that our congressmen support protecting the Medicaid program.  The last item we advocated for was accessible air travel.
                In regards to accessible air travel, we were asking our congressmen to support measures that would increase accessibility to air travel.  Soon, FAA reauthorizations will be coming through congress and there will be some provisions in these reauthorizations that will help passengers with disabilities have increased access to air travel.  We were advocating our congressmen to support these provisions.  The MDA conducted a survey with over 2000 participants about their experiences with air travel.  Right now, there are a number of issues with the accessibility of air travel.  First, airplanes do not have accessible lavatories.  Second, wheelchairs are only permitted in the cargo hold where they can be sometimes damaged. Third, transfer to a seat in the airplane is an arduous process and sometimes injuries can occur.  The actual seat on an airplane is not the safest place for all persons with disabilities; they would be safer in their personalized wheelchairs.  Fourth, access to preferential seating is not always permitted.  I know from personal experience that my fiancé, Jon, and I pay extra money to ensure we get the economy seats towards the front of the plane.  We also experienced issues with regards to Jon assisting me into the airplane seats; the airlines do leave enough extra time for us to get properly settled before they start boarding everyone else.  We often feel like the transfer to the airplane seat is a rushed process when a transfer needs to be slow and safe.
During the MDA Advocacy Conference, representatives from the Department of Transportation spoke about efforts to increase accessibility of air travel. Livaughn Chapman Jr., Chief, and Alex Taday, Supervisory Analyst, of the Aviation Civil Rights Compliance Branch of the Department of Transportation (DOT) summarized what their department is doing and what the neuromuscular disease community can do to increase accessibility in air travel.  If a person with a disability encounters an issue/problem when traveling, he/she has a right to issue a complaint with the specific airline and the DOT.  The DOT has a process for complaint handling and the outcome of the complaint will be communicated to the person who filed the complaint.
                So, what should we, as neuromuscular disease patients, do if we experience an issue during air travel?  File a complaint with the DOT and the airline as soon as possible.  Right now, the DOT receives roughly 800 complaints a year regarding accessible air travel.  These complaints are mainly about timely assistance for people with disabilities. The only way to increase government awareness of the state of air travel will be to increase the awareness of negative experiences in air travel for people with disabilities.  Complain, complain, complain!  I know it sounds counterintuitive, but let’s change the way we travel!  Here is the link for the DOT complaint form: DOT Complaint Form.
                After were heard all the information and instructions about our advocating, we prepared ourselves for Capitol Hill.  Groups for each state gathered together to go over the meeting schedule and discuss who will talk about which topics.  There was a total of 4 of us from my state, Pennsylvania.  Our schedule included two senators and two congressmen from the House of Representatives.  We were scheduled to meet with the staff members of Senator Pat Toomey (R) and Robert Casey (D) as well as staff members for Representative Brian Fitzpatrick (R).  Our last meeting was for Representative Ryan Costello (R) and his staff.

                Now, I was nervous.  You might think it strange because I was a teacher, but to me, this was totally different than teaching.  In teaching, I spoke to children, preteens, and teens most of the time.  I could fumble words now and then and show students that it is okay to make mistakes and carry on with your statements.  I also spoke to peers, administrators, and parents.  At first, I was nervous with administrators but I realized they are here for me and easily approachable.  As far as communicating with parents, I realized that parents can sense your genuine concern for the well-being of their student and open communication works best.  Why did I just tell you all this?  Because I am not the teacher anymore in my new role of going to congress.  I am the student. The MDA taught me the skills to go to Capitol Hill and advocate for people with disabilities.

                In reality, I should not have been nervous.  The staffers were friendly and very inviting.  Senator Pat Toomey and Senator Robert Casey’s staffers assured us that they were fighting to keep the NIH budget because biomedical research is a bipartisan issue that affects all people.  We also saw positive feedback about the FDA, the Newborn Screening funding, and healthcare reform.  These four issues were issues that have been on the minds of Capitol Hill for a while now.  We made our case accessible air travel and were told that they would research this more with a positive outlook. 
                Next, we made our way to the House of Representatives.  Representative Brian Fitzpatrick’s staffers met us in exactly the same manner as the Senator’s staffers.  We had a positive outlook and even met the congressman at the end of the meeting.  He was warm and friendly and seemed to genuinely care about our concerns.  Our last meeting was with Representative Ryan Costello.  This was our only meeting with an actual representative and I was acutely more nervous, but the meeting went well.  We expressed our concerns for all five advocacy topics and he was receptive to our concerns.  We had a thoughtful conversation about our needs and our hopes for Representative Costello to support our cause.
                I look back on these days now and feel proud of myself.  I stepped out of my comfort zone and will continue to do so for a cause dear to my heart.  I will follow-up with each member I met with and express my thanks for taking the time to meet with me.  I will continue to advocate by going to Capitol Hill whenever I have a chance and also go to my local Pennsylvania representatives as well.  At the beginning of the conference we were given a poster with an incomplete sentence that said, “I advocate for….”  I ended up filling out two of them.  I advocate for GNE Myopathy.  I advocate for YOU.   

Monday, May 22, 2017

Neuromuscular Disease Foundation Annual Symposium on August 24 & 25; The Various Groups Within the GNEM Community; Calling All Patients to Register for the Natural History Study; and Caregivers to Submit Their Experience of Assisting a Patient.

                                 The Neuromuscular Disease Foundation (NDF)
will be hosting its fourth Annual  Symposium on GNE Myopathy on August 24 & 25, 2017. This symposium is a two-day, fact-and fun-filled event in which patients will be able to get direct information from the scientists who are involved in GNEM research. This symposium is an event in which the largest number of GNEM patients will attend. This event is will be held at the University of California, Los Angeles.  For more details and to register.  http://events.r20.constantcontact.com/register/event?oeidk=a07ee1mmy6qf208993a&llr=5ukeofsab

Various Entities Within  the GNE Myopathy Community

About 40 years ago, my family did not have these resources that are currently available to help, or even to know what was happening, to my eldest sister.  Then we were all puzzled by her increasing weakness and the ultimate failure of her muscles to function.  Currently, over forty years later, I am able to have have many resources to help me with  my disease.  I am very fortunate to be living at this point in history, at which time I can share with other GNEM patients who may or may not be aware of the many organizations and resources that are available to help us on this very trying journey of GNE Myopathy.  I have put together a simple chart of the various organizations, companies, social media groups, as well as related blogs below.

(1) The National Institutes of Health (NIH) is located in Bethedsa, Maryland. U.S.A.  is the nation's foremost  research institute for various rare diseases. Dr. N. Carrillo and her team are conducting the ManNAc and Natural History study trials.  Please refer to this site for more information.

(2) Ultragenyx Pharmaceutical is conducting clinical trials for various rare diseases, including using Sialic Acid for GNEM.  In addition, they are also conducting a GNEM Disease Monitoring Program. Here are some links associated with Ultragenyx Pharmaceutical:

                                                             GNEM Disease Monitoring Program
                                                             John Walton Muscular Dystrophy Centre
                                                             Patient Advocacy at Ultragenyx
                                                             GNE Myopathy in Focus

(3) Advancement for Research Myopathies were started by Drs. D. Darvish and B. Darvish.  Both are GNEM patients.  For more on their research, please refer to this site.

(4) The Neuromuscular Disease Foundation (NDF) was founded in 2006 by Ms.G. Mikail and is currently the world's leading foundation supporting research and funding for a cure for GNEM. For more about the NDF and their activities,visit this site.

5)  GNE Myopathy International (GMI) was cofounded by a group of international patients and family members to generate awareness about GNEM globally.  For more about this organization, this is the site.
World Without GNE Myopathy was later set up as a trust in India to raise funds in support of the activities of GMI.

(6)Various private and closed media groups are located in many countries and are available in many languages. In some of the countries these groups are located are India, Italy, Israel, and the United States.  There are a few governmental funded organizations such as the one in Japan (Patient Organization for Distal Myopathies), and there is an Italian nonprofit organization as well.
Here are two blogs written by GNE Myopathy patients and their links:
Challenges Living with HIBM

Thoughts on living with HIBM

(7)  The Neuromuscular Disease Network (NMD) is like a hub for many neuromuscular diseases and is set up to ensure that the most promising therapies reach patients as quickly as possible. Check out this site and read more about GNEM.

Why Your Participation Matters in the Natural History Study?
NIH National Human Genome Research Institute

The National Institutes of Health continues to enroll patients for their Natural History Study.  It is very important for GNEM patients to participate in this study, as it will help to inform researchers and patients about the etiology of GNEM.  It is critical that we participate as it is vital for us to get a cure.  
This study will collect  genetic and medical information, some tests of which will include muscle strength, blood, and urine samples besides heart and lung function. After the initial visit, participants will return every 6 to 12 months for followup visits.  Link for  more information and how to participate.

Calling for GNEM Caregivers Participation  
Phil Cammish the editor for the GNEM newsletter at the Neuromuscular Disease Network (NMD) is inviting caregivers to submit their story of working with or living with or caring for a GNEM patient. Here are some points you may consider addressing in your submission:
*Type of level/support have changed or adapted from time of diagnosis to now.
*Level of support you offer to the patient.
*Challenges you are faced with in terms of assistive devices and resources for the patient.
*Any support you received from organizations etc.
*Advice you would give to other caregivers.
 Please submit your story along with your name, location, and photos by July 31.  Click on this link for additional information or contact the editor.

"One Who Gains Strength by Overcoming Obstacles Possess the Only Strength Which can Overcome Adversity." Albert Schweitzer

Thursday, April 27, 2017

A Celebration of Rare Patients, GNE Myopathy International Redesigned Site, the NDF Upcoming Symposium, Newsletter, and Related Pertinent Links

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                       Credit:  Monica Weldon SYNGAP1

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

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/
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/

Monday, February 27, 2017

Rare Disease Day Around the Globe, Rare Patients Thoughts, Blog and Video, Summary of Stem Cell Webinar, Patients' Survey Results, NIH Website on GNE Myopathy, and Newsletters

                                     WITH RESEARCH, POSSIBILITIES ARE LIMITLESS
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February 28 is the tenth annual Rare Disease Day which is observed all over the globe, and on this day we the GNE Myopathy (GNEM) patients express our hope for a cure. 
This year I invited GNE Myopathy patients to send me their insights, ponderings,contemplations, or any other thoughts they would like to describe about their experience of living with this rare disease.  GNE Myopathy does not discriminate against color, ethnicities, or race. This disease, in fact, is found around the globe.  Here is what some GNEM patients would like to share with the Rare Disease community:  

"Living with GNEM made me anything that I never imagined myself to be.  Quite positively, I would not have found my endurance, will power, patience within myself, and the tolerance to bear rudeness and harsh attitudes around me without this rare companion called GNE Myopathy.  Spiritually, I am stronger than anyone living without this disease, and surely towards a profound eternal me.  I will never quit fighting and will prove that I am just 'differently-abled' - NOT disabled.  By S.- Pakistan

Here is an exquisite blog written by another GNEM patient, J.Y. - U.S.A. Her GNEM experience explores and sheds light about the human, psychological, and emotional sufferings that we go through daily.  Here in her own words:  "We are living in dark times. The ugliest underbelly of humanity is being exposed.  The most vulnerable among us, including people with disabilities feel threatened and live with increased fear for our futures".For more on her exceptional insights please visithttp://livingwithhibm.com/?p=281

As I mentioned earlier. GNE Myopathy patients are found around the globe.  Here is a video of a Taiwanese patient Joy, was diagnosed in her mid-twenties and went on to raise a family and have a successful career.  For the past three decades, her life got more physically challenging; however, Joy hopes that an effective treatment will be available to all patients in the near future. 
Note:  This video was prepared and narrated in Mandarin  fifteen years ago by a local Taiwanese television station.
Rare Disease Day Editorial and Links:
As another Rare Disease Day is observed, or another Patient Day, I continue to maintain a secure intention that a cure will be available for GNEM. When will the key to this intention happen?   Research is strewn with side roads and alley ways, crossroads and junctions, and it may take multiple decades to develop cures for rare disease patients. How many more falls will we take? How long do we push ourselves to maintain our independence? When or on which date  will we find out we cannot lift our feet over the threshold of our front door? When, indeed when, will we be able to continue to hold a spoon to feed ourselves like "normal" people do or will this ability be taken away as well?  My hope is that innovative technology will  intercede and collaborate with research to hasten a cure for GNE Myopathy. 

 For Rare Disease Day Observed Around The Globe.

Here is a detailed summary of the Stem Cells Webinar. Again, this is  another of one of the  gne-myopathy.org events that were attended by over 45 persons.

Third Patient Webinar organized by GNE Myopathy International (GMI) and World Without GNE Myopathy (WWGM) on Jan 28, 2017
Title: Stem Cell Therapy for GNE Myopathy
Speakers:       Dr. Todd Malan- Clinical aspects of Stem Cell Therapy
                        Centre for Regenerative Cell Medicine, Arizona, USA
                        Prof. Alok Bhattacharya- Stem Cells- Myths and Reality
                        Jawaharlal Nehru University, New Delhi, India
                        Ms R. C.- Experience with Stem Cell Therapy
Stem cell therapy holds great promise for diseases like GNE Myopathy which have no satisfactory cures yet in sight. Stem cells are thought to be one of the possible cures for GNE Myopathy and many other similar diseases. Nevertheless, controversies exist regarding safety of stem cell transplantation, which make it exceedingly difficult for patients to arrive at a decision regarding the use of this therapy. The webinar was intended to illuminate the patients about current status of stem cell therapy and its actual application. It was attended by 45 participants from all over the world. We hope the patients obtained useful information from this webinar to help them arrive at their own decisions.
An account of the webinar, and some lessons learnt is as follows.
Dr. Todd Malan talked about the use of stem cells that are present in adipose (fat) tissues of our body. He explained that stem cells exist in most of our tissues and are used by the body to repair tissue damage. However, when damage is extensive, as happens in GNE Myopathy, the resident muscle stem cells may be too few to be effective. Thus stem cell therapy relies on jacking up the available cell number by transplanting stem cells into the patient. From the early days of stem cell therapy the technology has greatly advanced and it is now possible to introduce hundred million cells in a way that their effect lasts for longer periods. He indicated that positive effect if seen, may be due to release of a variety of growth promoting and tissue healing substances which help in repairing tissue damage by activating stem cells present in the tissues. According to him, it is unlikely that the transplanted stem cells actually reach target sites and then convert into specialized cells. Since the stem cells used are autologous- that is taken from the patient’s own fat tissue, the problems associated with graft rejection and other complications are avoided. Since the stem cells also carry the same genetic mutation of the patient, the beneficial effects of a single introduction of stem cells (if any) are likely to wither away after a period of time (which would vary for each patient). This would necessitate repeated injections of stem cells as and when required. Dr. Malan informed that stem cells taken from the patient can be briefly expanded in the lab and stored frozen for future use. From the safety studies conducted by them and others no adverse effects of repeated injections of stem cells have been reported so far though it is not clear if long term  (more than 3 years)  follow up has been done on patients that have seen these cells. Extensive data on stem cell efficacy is not available as most of the completed studies have been done to determine safety issues. Due to lack of funding, phase 2/3 clinical trials have not been carried out.  Dr. Malan graciously offered to share his clinical protocol of stem cell administration with doctors in other countries whom patients might approach for this therapy. 
Prof. Alok Bhattacharya gave an overview of the different types of stem cells (for example, embryonic, induced pluripotent, mesenchymal), obtained from the patient (autologous) or from another person (allogeneic). He described the current advances in stem cell therapeutic applications, including clinical trials.  A large number of trials are in phase I/II stages and involve mainly autologous stem cells. Some clinical studies have indicated that  autologous mesenchymal stem cells can be helpful in improving the condition of patients with genetic disorders, such as Duchene Muscular Dystrophy. Unfortunately, most of these studies are open label studies and no double blind placebo controlled study (which is the gold standard in clinical research) has been carried out. Prof. Bhattacharya pointed out that already a few stem cell products (mostly allogeneic) have been approved and available in the market for treatment of specific diseases. It is likely that similar products for treatment of genetic disorders will be available soon. Great strides have been made in the area of embryonic and induced pluripotent stem cells. These cells have potential for regenerating damaged tissues and can be expanded for a number of therapeutic applications. Already encouraging results have been seen in a paralysed patient with nerve damage.  There is the future possibility of gene-corrected stem cell banks containing all possible matched cell types to avoid graft rejection. Due to paucity of sufficient numbers of controlled clinical trials he cautioned about possible long term adverse effects of this therapy that are currently being administered, although such effects have not been reported so far.
Ms R. C. is a GNE Myopathy patient who lives in Istanbul. She met Dr. Stavros Alevrogiannis in Athens and underwent stem cell transplant in Feb 2016. She also underwent a detailed metabolic profiling of various metabolites, including organic acids, intermediates of carbohydrate metabolism, vitamins etc. Based on this she was given supplementation of vitamins/minerals. She has greatly benefited from this treatment and is now able to walk with the help of a walker, whereas before the treatment she was wheel chair-bound.   

Here is part of a Patient Survey that we conducted in November 2016.   I want to thank all the GNEM patients from our community who responded to our Patient Surviey and offered us a new insight into our rare disease. Due to the large size of this file a more detailed and complete survey will be posted soon on this website.

Patient Survey on Various GNE Myopathy Treatments

GNE Myopathy International and World Without GNE Myopathy (India) conducted a patient survey on treatments for GNE Myopathy. The survey was conducted in November 2016 and received 50 responses from GNE Myopathy patients. The survey was aimed at  collecting patients’ views on the effectiveness of  various treatments based on patients’ own experiences. 
The survey is only an informal assessment of patients’ views and should not be taken as an authoritative guidance on any treatment. Patients’ views presented in the survey are subjective and anecdotal and therefore could be misguided due to many factors. 
Patients surveyed seem to benefit the most from physiotherapy and pool exercises. Yoga, supervised exercises, meditation, massage, cardiovascular exercise are also very beneficial, although used by fewer patients. Sialic Acid, ManNAc, protein supplement, CoQ10, vitamin supplements were of medium benefit. Stem cell, homeopathy, and Ayurveda could be explored in the future as they showed high benefit but the number of users among surveyed patients was extremely low, making the data less reliable. We need more objective measurements of treatment outcomes by medical experts to have confidence in the relative merit of each treatment.
For further questions or if you would like a copy of the complete survey, please contact us at gne.myopathy@gmail.com or wwgm.india@gmail.com.

News from the National Institutes of Health

The National Institutes of Health (NIH), Bethedsa, Maryland, U.S.A., lists important information on GNE Myopathy.  The clinical trial on ManNAc, and other resources, relevant research, and a multi-center trial which is planned for this summer using ManNAc.  I am very excited about this trial as more patients will be able to participate. Kudos to this exceptional team at the NIH.  For more, visit:  https://www.genome.gov/27567243/gne-myopathy-clinical-studies-at-nih/

Here is a link for an abstract where thirty five patients were tested on three Patient Reported Outcomes (PRO). These tests were conducted on GNEM patents participating in the Natural History study at the NIH.   The areas tested  were the physical function, the Human Activity Profile, and the Inclusion Body Myositis Functional Rating Scale.

Recent Related GNEM Newsletters: 

Link for the Winter Edition of the Neuromuscular Disease Foundation 
Link for the Treat NMD Network

Please remember to help other patients to register at  GNEM DMP site


Monday, January 23, 2017

The Upcoming Webinar on Stem Cell Therapy For GNE Myopathy, Reflections of a Patient, Implications for ManNAc, GNEM Newsletter, And Rare Disease Day Around The World

We are planning a third webinar organized by GNE Myopathy patient and gne-myopathy.org.  This webinar is on January 28, 2017 starting at 8:00 a.m. Pacific Standard Time. Our feature presenter will be Dr. T. Malan,* founder of the Innovative Cosmetic Surgery Center, based in Arizona, U.S.A.   He has treated at least one GNE Myopathy patient.  There will be a Question and Answer session followed by Professor A. Bhattacharya who will discuss the myth and reality of stem cell therapy.  After this we will have a patient's perspective on her stem cell treatment.
 Please refer to this flyer for more details on the webinar.

Join us us from PC, Mac, Linux, iOS or Android: https://altvil.zoom.us/j/876241328
Or iPhone one-tap (US Toll): +14086380968,,,876241328# or +16465588656,,,876241328#
Or Telephone:
Dial: +1 408 638 0968 (US Toll) or +1 646 558 8656 (US Toll)
+1 855 880 1246 (US Toll Free)
+1 877 369 0926 (US Toll Free)
Meeting ID: 876 241 328
International numbers available
Or a H.323/SIP room system:
H.323: (US West) or (US East)
Meeting ID: 876 241 328
SIP: 876241328@zoomcrc.com
* Link for Dr. T. Malan's website:  http://www.innovativecosmeticsurgery.com/about-us/  

Reflections of a GNE Myopathy Patient
Here is a recent article written by a GNEM patient.  It contains an impressive, genuine account  into what life is like for many patients living with GNE Myopathy.  Shilpi has been working tirelessly to increase the awareness of GNE Myopathy worldwide.

Link for the article: http://www.vartagensex.org/details.php?p=5883c5608f3de

Another piece of news on ManNac
This is in regards to ManNAc in which a recent  federal contract has been put out for bid.  
Part of the bid includes: "1. To develop a population PK model to describe the plasma concentrations of ManNAc and its metabolite sialic acid (Neu5Ac) following single and repeated oral dose administration to GNE myopathy patients;2. To perform Monte Carlo simulations using the population PK model to generate patient-specific plasma ManNAc and Neu5Ac concentration-time profiles for various ManNAc doses with the goal of finding the lowest possible dose of ManNAc which can produces sustained increases in Neu5Ac."

Ultragenyx's Upcoming Patients Day will be held on:  April 22, 2017 in Novato,, California.  Please register and apply for travel stipend if you plan on attending.

Latest Newsletter from GNEM-DMP:
This current newsletter features  a friend of mine, who like me  is living with GNE Myopathy.  It contains much important information on GNEM.  This newsletter has also been translated into many languages.  Read more at: https://www.gnem-dmp.com/Home/Newsletters

Here is a link for Rare Disease Disease Day around the world: http://www.rarediseaseday.org/

Friday, December 30, 2016

Images of 2016 With Hopes for Getting Closer to a Cure in 2017


Dear friends, family, and readers:
Thank you for continuing to follow my blog, and for helping me in my effort to increase awareness of GNE Myopathy.  I appreciate your attention, communication, friendship, and for reaching out to me.  Ever since I started writing about 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 allow.
This year I have been fortunate to attend many functions of the Rare Disease community and decided to close out 2016 by showing some of the highlights in images.  

Highlights in Images in 2016:
A Guest Blogger's visit  to a GNE Myopathy patient Kai-Ni-Ma in Taiwan

 A GNE Myopathy patient Kam's illustration was selected by the Everylife Foundation for display during the Rare Disease Caucus in Washington, D.C.

Stories of GNE Myopathy patients Shilpi and Mona's fundraising efforts:


The Ultragenyx's Patients Day 2016 held in California. It was a fun filled event and was attended by patients from many countries.

Another Patients Day held by Ultragenyx in Barcelona, Spain and was attended by GNE Myopathy patients with their care givers.

A two-day symposium sponsored by the Neuromuscular Disease Foundation (NDF) was attended by patients from as far away as Japan and Portugal.  What a fun group!  I look eagerly forward to our next meeting.

One of the most important highlights of 2016 was the announcement by Mr. E.Yashari and C. Becher (both board members at NDF),that funds have been allocated to initiate a "Pre-Ind" clinical trial for gene therapy, which will be administered by Dr. J. Mendell. 

The NDF has launched their new dynamic and very informative website this year, It is a very user friendly site.  In addition, a short video about GNE Myopathy in which I played a brief part "Bracing for Life" is to be found on this site at  http://curehibm.org/

And yes, education, and advocating and meeting friends in the rare disease community at the Global Genes Conference was truly an inspiring experience for me.

The international patient organization, GNE Myopathy International (GMI) http://gne-myopathy.org/ has initiated a webinar series in 2016 directed and organized by patients.  The first and second webinars addressed current and potential treatments for GNE Myopathy.  Each webinar was attended by an average of 25 patients from all over the world. The presenters were Prof. Bhattacharya, a member of http://gne-myopathy.org/ and Lale' Welsh, CEO of the NDF and http://curehibm.org/

GMI supported by World Without GNE Myopathy (WWGM) have been very active in India in 2016 by distributing flyers, organizing workshops, and  funding an essay contest on rare diseases. For more on their activities please visit:  http://gne-myopathy.org/upcoming_events.html

Link for Current and Ongoing Trials for GNE Myopathy

Since I was correctly diagnosed with GNE Myopathy  in 2010 and started writing a blog and I have continued to be encouraged that a cure would be discovered. Even before my correct diagnosis I have experienced many physical challenges, I have been dismayed at times; however, I have remained hopeful. I remain hopeful because I know there are many researchers, doctors, a biotech company, and the National Institutes of Health (NIH) all working on an effective therapy for GNE Myopathy.  Not many rare diseases have this collaboration; therefore I feel quite fortunate.   I look forward to meeting more of my fellow GNE Myopathy patients and learning more about our disease in 2017.  

Monday, November 21, 2016

Second-Ever Patients Webinar, A Survey for Patients, A Short Video On GNE Myopathy, Ultragenyx Withdrew Its European Application For Sialic Acid

GNE Myopathy International (GMI) held its first-ever patients webinar in September and it was a great success.  We had patients from all over the globe participating in that webinar. Now we are planning a second patients webinar in collaboration with  the Neuromuscular Disease Foundation (NDF) on December 3. Lale' Welsh, the CEO from the NDF has graciously volunteered to be the presenter.  The discussion is on "Recent Developments in Treatments for GNE Myopathy."  Please refer to the attached flyer on how to connect to this upcoming webinar. 
Webinar Flyer And Direct Link to Connect on Dec. 3rd. 8 a.m. Pacific Time:  https://altvil.zoom.us/j/525434317?pwd=&status=success

Survey For Patients
GNE Myopathy International (GMI) has developed a short survey on various treatment options for GNE Myopathy patients. This survey is intended to collate patients driven information on therapies/treatments with the hope that the entire community might benefit.  All survey responses will remain anonymous to all including the ones hosting the survey. We hope to share the data from this survey at our next webinar.  It takes about 10 minutes to complete this survey. 

Link for Survey: https://docs.google.com/forms/d/e/1FAIpQLSeyI9xIaLN6BVQJHcWUUw2PIHcYRA25IfYcvm6cABlwyZBW8w/viewform?c=0&w=1

The Neuromuscular Disease Foundation has prepared a short and relevantly meaningful video on GNE Myopathy. It gives a brief overview of the earliest historical transmission of the GNE gene, its diaspora, its challenges, and the current therapies for GNE Myopathy.  I feel very humbled to be featured in a small part of this video.

Bracing For Life With GNE Myopathy Video:


Ultragenyx's Withdrawal of Marketing Application of Sialic Acid in the European Union

On November 11, Ultragenyx announced the withdrawal of the Marketing Authorization Application (MAA) for Aceneuramic Acid Prolonged Release (Ace-ER or Sialic Acid) in the European Union. Ace-ER (Sialic Acid) is used  in ongoing trials for patients with GNE Myopathy.

Data based on the Phase 2 study of Sialic Acid was presented to the European Committee for Medical Products for Human Use (CHMP).  This Committee agreed that the Phase 2 study was encouraging but "did not provide sufficient amount of evidence to support approval at this time."

Meanwhile, Ultragenyx aims to collect more information based on the efficacy of Ace-ER on patients who are currently enrolled in the Phase 3 trial. Ultragenyx's CEO Dr. Kakis, stated that "Our Phase 3 study is on track and is designed to confirm the encouraging results seen in Phase 2 study." Dr. Kakis further emphasized that Ultragenyx is "committed to bringing this potential therapy," to GNE Myopathy patients.
Here is a link for the complete article: