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

Global Genes Summit, Huntington Beach, California, Video Lale Welsh (NDF), and Ultragenyx's Update on Phase 3 Sialic Acid Trial

 This is the second year I have attended this Summit.  If some of you remember, last year, it took me about 12 hours via ground transportation to travel to the summit; this year it took only seven hours. Timewise, I am making progress.  It was very educational and empowering.  It offered  me a way to network with researchers, doctors, policy-makers, and patients in the rare disease community. For those who were unable to follow the live feed or find it too daunting a task to sift through the many presentations I have summarized the information that I think would be of interest to Gne-Myopathy patients. I trust this summary will clarify what was presented.

 Lale Welsh Executive Director (NDF)
Ms.Welsh is from the Neuromuscular Disease Foundation. NDF funds scientists working on Gne-Myopathy, helping patients with screening, and  testing. Here is a brief video of Ms. Welsh summarizing  the symptoms, potential treatment, and testing  associated with  Gne-Myopathy. Thank you Ms.Welsh for focusing the spotlight on our disease. Here is the video link:
https://www.youtube.com/watch?v=pYa8qWz6_p0&feature=youtu.be
For more information  about the Neuromuscular Disease Foundation site please follow this link
http://www.ndf-hibm.org/

 Dr. G. Rao, Director  of Orphan Products Development, The Food and Drug Administration (FDA)
 Her presentation was focused on the FDA's  partnering with patients. A secondary focus was the pharmaceutical companies and  drug development.  The FDA would like more input from the patient community. She listed some areas where patient and/or patient organizations need to focus.  first and foremost that would include (1) Create a robust patient registry;  (2) Educating ourselves about the FDA regulatory process;  (3) Partnering with industry in areas where patients can help to design trial studies, and, (4) Participating in the FDA Advisory Committees to help them with clinical trials and related input on drug development.  Here is the link for FDA by which a patient can apply to become a Patient Representative. Patients are encouraged to apply to be on the advisory team. Patients are essential in helping to bring effective drugs to the market,  check out these links for more information.
 http://www.fda.gov/forpatients/about/ucm412709.htm
FDA patient network:  http://www.fda.gov/forpatients/about/default.htm

Dr. P.J. Brooks, Ph.D.  fromThe  National Institutes of Health (NIH)
Dr. Brooks stated that there are 7,000 rare diseases that are molecular based for which there are only 500 approved therapies . He also mentioned that it takes approximately $350 million to get a drug to market. Dr. Brooks also mentioned the various institutes associated with the NIH.  Currently, a team led by Dr. N. Carrillo is conducting a phases 1 and 2 trials for Gne-Myopathy using ManNac (DEX-M74) The link for this study:
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

David Glazer, Director of Engineering, Google, and Dr. A. Philippakis from Broad Institute 
They discussed about building a super-platform through which patient groups and the research community would collaborate on storing genomic information. This  will enable scientists worldwide to access and share data. Through this platform they could readily study the natural progressionand history of rare diseases, which would speed up more effective therapies.  Google is looking to do a trial using this platform with three patient groups.  I think this is a great way to speed the discovery of cures. However, we need to be cautious about privacy issues and their related repercussions. Google has partnered with The Autism Speaks MSSG. Here is the link:
https://www.autismspeaks.org/wordpress-tags/google-and-autism-speaks
https://www.autismspeaks.org/site-wide/google


Screening of  The Movie "The Lion's Mouth Open":

We were able to view this documentary and to ask questions from the filmmaker Marianna Palka, who is living with the devastating illness of Huntingtons Disease.  Ms. Palka showed such strength when she received her diagnosis.  This is a heart-wrenching documentary.  She has inspired  and energized me to continue my effort to advocate and spread the awareness of Gne-Myopathy. If I ever feel pity for myself, I plan to watch this movie yet again  because my condition is not nearly as severe as those who suffer from Huntingtons Disease.

Ultragenyx's Sialic Acid Phase 3 Update.  Please read this updated flyer and consider participating in this trial.
http://www.ultragenyx.com/file.cfm/20/docs/GNEM%20Update%20Brochure%204-Page%20Rev%2015.pdf

Global Genes:https://globalgenes.org/

I look forward to next year's summit, and I hope some of my fellow Gne-Myopathy patients will join me.

Flyers and Patients Stories on Website gne-myopathy.org

The GNE Myopathy website was started a little less than a year ago by a group of patients and family members. We formed this site with the hopes of generating increased awareness for Gne Myopathy, and to collaborate with patients and researchers on finding a cure for our disease.
We have continued to increase the awareness among patients, and to some extent within the medical communities; however, much work needs to be done.  Fellow patients are helping us by disseminating flyers in their respective countries.  These flyers list the signs and symptoms of Gne-Myopathy and have been translated into fourteen languages by native speakers of these languages.  These flyers are available for download from the http://gne-myopathy.org/ website.  We also invite patients to share their stories and would sincerely like to thank Roberta and Liraz for sharing their stories of the various challenges that  Gne-Myopathy presented in their young lives.
This first story is done in a Question/Answer format.

Roberta Living with GNE Myopathy from Turkey

Q. How long have you had GNE Myopathy?
It’s been 8 years now
Q. When and how were you diagnosed? 
My symptoms came out very quickly. Until i was 25, everything was normal; I could do everything until November 2007. First I started to be late to work, I couldn't understand myself my friends were seeing me on the way and they were asking "are you all right? Why are you walking lame?"  Then in 2 weeks I came home late and was climbing the apartment stairs like creeping.. my dad saw this and thought I had something wrong with my bones (like hip dislocation), I had an x ray, nothing was wrong then they send me to a neurologist, she told I could be MS (multiple sclerosis), I’ve seen the MS doctor and she sent me to neuromuscular professor. Then she wanted some tests like EMG, biopsy just to be sure about the disease.

For more information on Roberta's story, please visit:   

  http://gne-myopathy.org/our_stories.html                                                                                                        

Living With GNE Myopathy from a Young Age


My name is Liraz and I was born on April 2nd, 1994 in Kiryat Yam, Israel. I was diagnosed with HIBM at the age of 17, in April 2011. My parents are first cousins, both are Persian Jews. So far, I am the first, and hopefully remain the only case of this disease in my entire family. I also have an older sister (24 years old) and twin brother and sister (13 years old).

For more information on Liraz's story, please visit:
  http://gne-myopathy.org/our_stories.html

Patient Advocacy Symposium Held by the Neuromuscular Disease Foundation; ManNac,Sialic Acid, and Gene Therapy

     The second annual Patient  Advocacy Summit took place at  the University of California in Los Angeles, California on the 29th. of August, 2015. It was organized by the Neuromuscular Disease Foundation (NDF). (a)  The NDF's purpose is to facilitate  the global effort to cure Neuromuscular diseases.   Ms. Lale Welsh, its executive director, and her staff were very conscientious in planning for, and for meeting the unique needs of, our gne-myopathy patient group.   
     Ms. Welsh paid very special attention to our name tags, which consisted of a loop that was easy to be placed around our necks rather than a clip, which would have been difficult for some patients to put on.  Ms.Welsh also made sure that the tables were set at the proper height to facilitate wheelchairs, besides making sure that the conference room would have ample space for such wheelchairs to navigate the aisles.  Generously, the NDF offered travel and accommodation scholarships to patients and made provision for whatever else was needed. Ms. Welsh also ensured that the facility had enough roll-in shower stalls for those who needed to use them.  In addition, she assisted with the "drop-off" and "pick-up" of wheelchairs and scooters that the Muscular Dystrophy Association provided for patients.
       Since I was diagnosed in 2011, I have made an effort to meet as many of my fellow patients as possible. Other than my siblings, I especially remembered a first-time meeting I had with another patient in Sacramento, CA. Both Liz Singh-Juarez and I felt an immediate bond, this bond; it was one of understanding, empathy, and hope, since we both know the trials that this progressively weakening disease had given us. We were thus able to relate as if we had known each other as long time friends. Before meeting gne-myopathy patients outside my family, I felt as if we were the only ones with this weird-looking condition,the waddling gait, the splaying out of our knees and elbows, and of the way we had to hold objects and climb stairs.
     Gne-myopathy presents not only great challenges, it gives us great gifts as well, and these gifts were quite special indeed. I realized I have this disease in common with many talented young as well as older friends. These friends are the most kind, compassionate, intelligent, and positive persons I have ever met.   
     The presenters of this symposium  are well known doctors and researchers who have been doing gne-myopathy research for quite some time. The event opened by Jennifer, Y. giving a brief history of the NDF.  Dr. N. Carrillo from the National Institutes of Health, Bethedsa, Maryland, discussed  the ongoing ManNac trial.(b) The preliminary data of this trial suggests that ManNac is entering the relevant cells and is maintaining sustained levels. This study has completed its 90-day trial period and is projected to continue for  nine more months with the same twelve patients.  No major side effects just minor gastrointestinal issues have been reported.  If plans go as anticipated, the hope is for the ManNac trial to be extended and to be set up at more centers.
     Dr. P. Shieh, MD, Ph.D., from UCLA and Dr. A. Skrinar from Ultragenyx  presented the results of  the extended Phase 2  Sialic Acid study in which they have generally noticed increased strength in the upper extremities.  Their conclusion in "48-Week clinical data suggests that 6g/day SA‐ER has a statistically significant and clinically meaningful effect of stabilizing upper extremity muscle strength in GNE myopathy patients." (c)
   Ultragenyx is currently recruiting for Phase 3 trials worldwide. (d)  Some centers have started dosing patients whereas others have not yet opened up for recruiting.  Some patients will be on placebo and some will be dosed with Sialic Acid, i.e., a double blind study, means that neither your clinic doctor nor yourself will know if you are receiving the Sialic Acid or the placebo.  
     We, then transitioned to a very delicious Hawaiian-themed lunch along with the music. After lunch the patients went to a separate room from the family members so that the patients were able to privately and  freely discuss with other patients what it is like to live with gne-myopathy.  This session was led by Dr. Caughlin.
     Dr. D. Darvish, a fellow patient and researcher of gne-myopathy, attended this event as well.  Some of us were able to meet with him, and we learned that he and his group are working on starting up a gene therapy trial once they are able to secure funding. (e)
     About twenty patients plus many family members attended this event.  Although our ages varied, as did our cultures, our skin color, and the way we walked, looked or held items: we all came together to listen to the doctors and researchers. We came together as one group of patients in the hope that we might inspire, motivate, and instill a sense of urgency to the experts who are researching gne-myopathy, that they might find a cure for us, our offspring, and for the future generation.

**Note Please fellow travelers on the gne-myopathy road, let us get involved,  whether it is in committing to support The Natural History study at the NIH, the GNEM-DMP-on-line site, or one of the trials: as Dr. S. Kurdestani from UCLA mentioned that researchers are continuing to find new information about gne-myopathy on a recently tested group in Iran (Data will be published later).  Since, ours is a rare disease, and there are limited number of patients, the more information experts are able to collect, the better insight they will have in procuring treatments and therapies. They need more patients to get involved and we need to do our part in helping the researchers. Please refer to the links below for additional information.
***A recording of this Symposium will be posted online soon.

Links:
NDF
(a)http://www.ndf-hibm.org/
NIH
(b)https://clinicaltrials.gov/ct2/show/NCT02346461?
term=gne+myopathy&rank=2

ULTRAGENYX DATA ON THE 48 WEEKS' STUDY
(c)http://www.ultragenyx.com/file.cfm/22/docs/Phase%202%20and%20Extension%20Study%20of%20SA-ER%20in%20GNE%20Myopathy.pdf

ULTRAGENYX WORLDWIDE PHASE 3 RECRUITMENT
(d)https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

DR DARVISH
(e)https://www.hibm.org/arm/

GNEM-DMP ONLINE SITE/QUESTIONNAIRE
(f)http://www.gnem-dmp.com/?gclid=COXlqZem4ccCFY9hfgodqqsOfw

Meeting Congressman Sam Farr - Twenty First Century Cures Act

     

One of my enduring missions is to increase the awareness of GNE myopathy worldwide amongst the general public, governments, and non-governmental organizations. In keeping with this mission, I seek out opportunities through which I can educate, inform, and increase the awareness of our rare disease.

This week I was quite fortunate to meet with the Honorable Sam Farr, a Congressman of my district, the 20th. Congressional district of California.   He is very well liked by his constituents and has been serving my district since 1993. My intention to meet Representative Farr has been long in the making, since 2012 I have wanted to discuss with him the challenges of patients with rare diseases, and to ask for him and his colleagues to support to legislation that would help speed up therapies and treatment for our patient population.

In 2012, on one of my visits to the National Institutes of Health (NIH), a fellow gne-myopathy patient (Debbie Scott) and I arranged to meet with Rep. Farr at his office in Washington D.C. Unfortunately, the Congressman was not able to meet with us at that time as he was called upon to defend a bill in the Congress. However, we were able to meet with his Chief of Staff with whom we discussed rare diseases specifically, gne-myopathy. We also asked for his office to support increased funding for the National Institutes of Health.

As a side note, about 25 years ago my husband unexpectedly passed away, and I was left to raise my two very young children. I had no family living close to me, and as my husband was the one dealing with the financial aspect of our lives, I felt quite lost as to how to manage the financial maze, not to mention the emotional turmoil that resulted from this profound loss. I was dealing with. Fortunately, soon after my husband died, I received a call from our Congressman's wife (Shary),who requested to meet with me. I did not know who she was at the time and why she had volunteered to help me.

Nevertheless, I met with her. I remembered that she poured over all my financial documents. After she assessed all the information I presented to her, she advised me on how to manage my finances, and, then further assisted me in filing all necessary documents. Over the years, I have often reflected on her kindness, and I undoubtedly believe without her help I would have experienced far heavier financial difficulties.

Both Rep. Farr and his staff were very welcoming and attentive to my needs at this meeting. I am very encouraged to see their broad awareness and understanding of the various challenges facing patients with rare diseases. We discussed the 21st. Century Cures Act which was passed overwhelmingly by the Congress, and is now before the Senate Should the Senate pass the 21st. Century Cures Act it would be a win-win for rare diseases and would provide increased funding for the NIH.

There are several important parts of this bill for that would benefit the rare disease community including : (1) enhancement of the drug development process by including patient perspectives....," and, (2) the increase for funding to the National Institutes of Health.

I kindly requested Rep. Farr for his support to this bill, and other rare diseases legislation that may come before the congress. In addition, I asked Rep. Farr to consider joining the Rare Disease Caucus.

I was surprised to learn that Rep. Farr introduced a bill titled "Exercise And Fitness For All Act" which included very important provisions for persons with disabilities. These provisions included (1) "to encourage exercise and fitness service providers to provide accessible exercise and fitness equipment for individuals with disabilities; and (2) to provide guidance about the requirements necessary to ensure that such exercise and fitness equipment is accessible to, and usable by, individuals with disabilities." My hope is that this bill will return for a vote and will be passed, as exercise is very crucial for the health and well being of those in the rare diseases community.

*I would like to express my sincere gratitude to Rep. Farr for meeting with me and for listening to my story, the challenges that rare disease patients are  living with. Also, I would like to thank Mr. A.Russel and his staff from the Everylife Foundation for their guidance and coordination for this meeting.

Link for the 21st Century Cures Act

https://www.congress.gov/bill/114th-congress/house-bill/6

Link for Exercise and Fitness for all Act
https://www.govtrack.us/congress/bills/113/hr5541/text

Addendum:  I am pleased that the genetic disease gne-myopathy is getting more attention.  Another site has posted my family's journey with this disease.  Here is the link:
 http://www.raredr.com/news/the-long-journey-to-a-gnem-diagnosis

For more information on gne-myopathy, including resources, support groups and research, please visit: http://gne-myopathy.org/

Health News Digest Article On My Family's Medical Journey

This is brief article on my family's attempt in getting a definitive diagnosis. I am always thinking of ways we can increase the awareness of gne-myopathy..  In addition to this article, we (gne-myopathy.org) have been contacting doctors, researchers, and organizations worldwide to inform them about gne-myopathy, and requesting them to share a list of gne-myopathy resources with their patients.   I would especially like to thank all the patients, and others who have  helped with the translations of the "signs and symptoms" flyer. These flyers have been very useful to those who have difficulty understanding English.  These flyers can be downloaded from  http://gne-myopathy.org/

(HealthNewsDigest.com) - Imagine you have a very active life as a mother and professional. Then suddenly, inexplicably, something changes. You become weak. Everyday tasks become harder to complete. Moving becomes difficult. Multiple trips to the doctor do not provide immediate answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story.

My family's medical journey began more than 40 years ago. Over the course of that time, my siblings and I suffered from the same symptoms. We set up appointments with our physicians and participated in several tests and studies in search of a diagnosis. The question no one could accurately answer: why is this happening?

I

Please refer to the link for the complete article.

http://www.healthnewsdigest.com/news/Research_270/Solving-a-40-Year-Medical-Mystery.shtml