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Meeting my Congressman

Saturday, September 9, 2017

Press Release from Ultragenyx Regarding Termination of the Sialic Acid (Ace-ER) trial and Some Frequently Asked Questions About the Ace-ER trial

Hope is in our GNE gene!      
Friends, I know many of us are sad with the outcome and termination of the SA-ER study. We must continue on and put our best effort into supporting other therapies, such as the upcoming ManNAc trial (NIH), gene therapy (Dr. Mendell/NDF), and other possible treatments.  Perhaps the prodrug Ultragenyx is working on will prove successful.


Following on from the press release issued by Ultragenyx on August the 22nd regarding the results of the Phase 3 Study (Click for press release)Dr Emil Kakkis M.D., Ph.D., the Chief Executive Officer at Ultragenyx would like to share the following letter with all of the GNEM –DMP registry participants.
 If you have any questions please do get in touch by emailing  hibm@treat-nmd.eu or Nicole.oconnor@ncl.ac.uk and we will try to help. Alternatively, you could consult with your Doctor.
To read the letter from Dr. Kakkis, please click here.  
Finally, thank you for continuing to participate in the registry!
Best wishes,
GNE Myopathy team

Findings of the UX001-CL301Clinical Trial

Dear GNE Myopathy Patient Community,
We announced very disappointing news from our Phase 3 study of UX001 (Ace-ER) which failed to demonstrate efficacy in treatment of GNE myopathy. We did not confirm the benefit in maintaining the arm strength of subjects treated with Ace-ER as we had expected from our Phase 2 study. If there was any effect, it was small and the other endpoints did not provide any supporting evidence for efficacy. Safety was acceptable as previously observed. We can tell that the patients were taking the drug by their serum sialic acid levels. I believe the Ultragenyx clinical team designed and conducted a high-quality study but the treatment effect was unfortunately, not confirmed.
We have been looking at why it did not work and there is no perfect answer. It is clear that the patients included in this study were stronger at baseline but this is what we planned by our inclusion criteria to include people with more muscle to lose, based on our Phase 2 data. These Phase 3 patients did not decline quite as fast as expected but they did still decline in arm strength and Ace-ER had no significant effect. There may be other smaller differences between the studies, but those differences alone cannot fully account for the lack of efficacy in stabilizing the patients. The phase 2 study was small and the Phase 3 study much larger, so it is a better dataset to make conclusions. Without a pathway forward for the product to approval and no positive results, we had to terminate the program and focus on other things at the company.
For patients in our studies or on compassionate use, we are most heartbroken that we cannot offer even a modest therapy for them and that their future now depends on other research work that is ongoing. We will manage this transition graciously to avoid a precipitous stop. We know this is a shocking moment for patients on our studies and for those who feel the drug is helping them. For patients not already on Ace-ER, we cannot initiate new therapy. Whether on Ace-ER or not, the GNE myopathy patient community needs to not lose faith in research but participate in other clinical studies to help get an effective treatment approved. Patients will likely have to be off Ace-ER to participate in other clinical studies.
While we were unable to get Ace-ER to approval, we did contribute to the field and this is very important in the development of any therapy. GNE myopathy is a more widely known disease now among people other than doctors and patients. It is being diagnosed more often with the diagnosis program we supported. We established and made available new methods and endpoints for measuring muscle strength and GNE myopathy patient function as well as gained acceptance for those endpoints from a regulatory standpoint. FDA and EMA know the disease now and a regulatory pathway now exists. Our
DMP natural history study data are very valuable and as planned, all of our data will be available for others doing research on the disease through our relationship with TREAT-NMD. Finally, we will continue our research work to develop a better replacement therapy in our sialic acid prodrug program. If we can demonstrate it has substantial efficacy in animal models then perhaps we can come back to the clinic at some point in the future. We don’t know when that will be but the work is ongoing. In the meantime, we are hoping to see patients participate in other clinical programs and fight this disease everywhere, every day, and all the time, until a solution is found.
Thank you for all you do.

Emil

Some Frequently asked Questions about the SA-Er (Ace-ER) Trial

1. Why is the Sialic Acid (Ace-ER) trial terminated?
a. The Phase 3 Ace-ER study enrolled 89 adults with GNEM able to walk > 200 meters in
the six minute walk test. Patients were randomized 1:1 to Ace-ER at a dose of 6g/day or
placebo for 48 weeks.
b. The study did not meet the primary endpoint of demonstrating a statistically significant
improvement in Upper Extremity Composite score (+0.74 kg, p=0.5387) for Ace-ER
treated patients (n=45, -2.25 kg) compared to placebo (n=43, -2.99 kg) patients for the
change from baseline to 48 weeks.
c. There were three pre-specified key secondary endpoints, including the lower extremity
muscle strength composite score as measured by hand-held dynamometry (HHD),
physical functioning using the Mobility domain of the GNE Myopathy-functional activity
scale (GNEM-FAS), and a measure of muscle strength in knee extensors. The study did
not meet any of these key secondary endpoints.
d. The Phase 3 study was appropriately designed and indicates that Ace-ER did not
stabilize this stronger patient population. We would have expected that there would be
an effect in this population where more muscle is remaining to treat.
e. The Phase 2 study was much smaller and did not have a placebo for the full duration of
the study. The EMA reviewed the results of this study and determined that it was not
sufficient for conditional approval .
2. Should I stop the SA-ER tablets immediately?
a. Please talk to your doctor. It is completely up to you if you want to stop immediately.
You do not have to, but you can if you want. In the phase 3 study, Ace-ER (aka sialic acid
extended release) did not show any benefit compared to placebo in stabilizing strength in the upper extremity or improving the other endpoints.
3. Will I experience withdrawal symptoms when I stop ingesting SA-ER?
a. No evidence of withdrawal symptoms have been observed.
4. When will my trial doctor (investigator) contact me?
a. In the next few weeks. You can also reach out to your study team to talk to them sooner.
5. What are the resources available to me during the transition period?
a. We recognize that some patients feel that they are receiving benefit; however, the overall data did not show a benefit compared to the placebo. Given these results,Ultragenyx has made the difficult decision to end the Ace-ER Program and all studies evaluating Ace-ER in GNE Myopathy.
b. For patients currently in studies or on compassionate use, your physician may request access through compassionate use to provide a reasonable transition. This mechanism
requires approvals by the following groups: Principal Study Investigator, IRB
(Institutional Review Board) / EC (Ethics Committee), & country Health Authority.
MRCC-UX001-00059
6. Can my local doctor or PCP (using central IRB) request compassionate use on my behalf or does it have to go through the study investigator?
a. The study investigator should be in agreement about the risk/benefit profile of the study drug but then Ultragenyx could work with the patient’s local neurologist for a compassionate use request.
7. I feel hopeless now as SA-ER was a very promising solution for GNEM, who should I contact for additional resources.
a. Your doctor(s)
b. The NDF has support resources available to support you
c. ManNac trial: Kennan Bradley, MPH is the Clinical Research Coordinator at the NIH for
the ManNac trials. Contact info: Office: 301-827-7746, Cell: 240-461-0725, Fax: 301-402-0006. https://www.genome.gov/27567243/
8. Will you publish data and when, on the findings of phase 3 study?
a.Yes, we will be publishing the results of the studies and working with GNEM researchers (NDF and TREAT-NMD) to make data available.
9. Do you have other substrates you are considering as a trial for GNEM?
a. We have a pro-drug program for GNE myopathy that is in the very early stages of preclinical research.
10. What is the pro-drug you mentioned at the NDF Symposium you are working on? And how will a pro-drug work if you do not have a drug for it to help?
a. Prodrug is a chemically modified version of sialic acid that is designed to improve delivery to muscle.
11. When will this be available as a trial?
a. At this point we do not know if and when it may make it to the clinic
12. Will this pro-drug work in concert with ManNAc?
a. We do not know at this time.
13. Who should I contact if I need more information why SA-ER was terminated?
a. Kim Mooney at 408.981.3526 or kmooney@ultragenyx.com
14. Could my biopsies/data collected by you be shared with researchers working on GNEM?
a. We will work with Treat NMD, our partner that shares in ownership of the data in the
GNEM-DMP to ensure the data will be available to help support development of other
therapies by researchers and companies.
15. How do I get my individual study results?
a. We will share information with each study site on which subjects received active
treatments vs placebo.
b. Please ask your investigator/ study site for study data related to your muscle 
measurements and other data.

Tuesday, September 5, 2017

Symposium Summary of the Neuromuscular Disease Foundation

"Success is not final, failure is not fatal, it is the courage to continue that counts".   Winston Churchill

Globally we will cure GNEM
It has never before been attempted to gather researchers and GNE Myopathy (GNEM) patients on such a large scale under one roof to discuss and examine the available research on this rare disease. However, the Neuromuscular Disease Foundation (NDF) has now successfully conducted  and completed this in an exemplary manner.  The focus for the 2-day Symposium was to bring together scientists and patients from around the globe in an effort to explore every angle of a cure  for GNEM. A wealth of information about GNEM was presented, and I can only attempt to summarize a very small part of the entire Symposium here.

The presentations by GNEM scientists were intense, packed  with scientific findings, research, patients stories, exercises, and descriptions of adaptive resources.  For more detailed information and accompanying videos, please visit the NDF Facebook page and web site.  Please refer to the links at the end of this summary for additional information.

Lale' Welsh, CEO of the NDF  commenced the Symposium by welcoming the patients, their caregivers, besides scientists who came from all over the world. Immediately following the introductions, we were off delving into two full days of rigorous scientific data. Patients thereafter were able to have their questions answered face-to-face by the researchers.

Symposium Day 1

1.  Dr. Mansbach, Vice President of clinical development from Ultragenyx, stated that he was very saddened by the lack of success of the Phase 3 Sialic Acid trial, which was the last step before regulatory approval. Unfortunately, they were not able confirm the data they showed in Phase 2 of this study.  Since it is necessary to show the FDA that the placebo control group versus the group on Sialic Acid  demonstrated insignificant benefit, making this the end of the road for the development of this compound. He further stated that it is important to try.  Even though this door may be closing, there are other groups that may be able to build upon what has been learned through this trial.  Dr. Mansbach further explained the details on how they designed the Phase 3 Sialic Acid trial and and how the endpoints were tested.


2.  Dr. Lochmuller from Newcastle, United Kingdom, discussed the online monitoring program for GNEM patients he and his team continue to conduct.  It includes a Disease Monitoring Program (DMP) platform where patients can log into their medical file to answer a battery of questions at regular intervals. There is no treatment associated with this program, although they are learning about the most common GNEM mutations that are characteristic in certain groups.  Dr. Lochmuller further mentioned that if we can understand the "modifier gene" we may be able to design a effective GNEM treatment.


3.  Dr. Nishino from Japan presented information on GNEM that was derived from the Japanese population.  In Japan there are 188 registered GNEM patients.  Common mutations within the Japanese group are V603L and D207V.  This latter mutation is in some cases mild or asymptomatic in patients.  Dr. Nishino theorized that there are other options for treating GNEM, such as bone marrow or liver transplant although these are not very easy, practical or even viable to accomplish.


4.  Dr. Rosenbaum from Israel (who identified the GNE gene) mentioned that the precise mechanism of the pathway of the GNE gene and its "interactors" are not yet fully understood.  Even though GNEM is a mono-genetic disease, she stated that we need to understand if and how it is interacts with other genes. She implied that we need diverse research to bring about more understanding of the GNE gene.  Many proteins interact with the GNE gene, thus making the GNE protein problematic to work with.

5.  Dr. Huizing from the National Institutes of Health (NIH) reported that they have been following:
  • 54 GNEM patients in the Natural History study program for the past 6 years and thought that this study had valuable data in terms of how GNEM progresses, how muscles function in regards to different mutations.
  •  The Sialic Acid synthesis pathway has been well studied.
  •  Dr. Carrillo, from the NIH, and her team have come to understand that chronological age is not equal to "Disease Age." Dr. Carrillo and her team have designed a "Disease Progression Model" to assess the Disease Age of each patient they study. As a patient, I see other patients of the same age, I  notice differences in their strengths and their mobility.  This will be a very helpful and standardized tool to give all of us an idea of  what stage we are in the disease process.
  • It has been suggested that perhaps patients who have both mutations on the kinase domain, ManNAc may be more effective
  • ManNAc is a neutral sugar that is slowly released into the blood stream.  It is easily taken up and sialylated, and thus it could still be present in the blood 48 hours after dosing.
  • The NIH plans on starting a multicenter  Phase 3 ManNAc trial on 50 patients later this year. For this study patients will need to be off of Sialic Acid, ManNAc, or any other pertinent medications. Patients will need to pass a Quantitative Muscle Assessment (QMA).  To participate in this upcoming trial, please monitor this site to see when recruitment will begin. Link to monitor for the upcoming ManNAc trial.
6.  Dr. Hegde from Perkin Elmer, Atlanta Georgia, presented her ongoing research on the analysis of various genes and her observation is that GNEM is under-diagnosed and may as well have other genes that interfere and or interact with the GNE gene.  This is an area that she intends to investigate as she partners with the Jain Foundation to study muscular dystrophy.

7.  Dr. Shin from Pusan Nat'l University, Yangsan Hospital, South Korea, presented a short piece on how the South Korean GNEM patients are getting organized to increase the Korean peoples' awareness of  GNEM. There are approximately 50 known patients in his south Korea. (Note: for several years I have been sending emails to neurologists in Korea, China, and other countries, asking them if they know of any GNEM patients, and if so to have them contact me. Finally, I was able to meet a doctor studying GNEM and a patient from South Korea.  Our next frontier is China!


8.  A Panel  led by Doctors Argov, Huizing Shieh, Rufibach, Mansbach Mozaffar, and Shin.  GNEM patients, family members, and caregivers were able to ask various questions from the panel ranging from stem cell therapy to various clinical trials.

Lale' Welsh, CEO NDF, Commences Dinner Celebrations 
9.  At an extensive eloquent dinner served to all attendees on the first day of the Symposium, there were two guest speakers Dr. Kakkis, CEO, of Ultragenyx, and Dr. Jerry Mendel from the Nationwide Childrens Hospital, Columbus, Ohio.

Dr. Kakkis made a conscious choice to come and address our patient community regarding the termination of the Ace-ER (Sialic Acid) trial.  He did not have to come but made the choice to do so any way as he has always had patient well being at the forefront as a therapy for GNEM was being developed. He notified our group that because the Ace-ER trial failed to meets its primary"end points," and further showed no statistical difference between the placebo group and the group taking Ace-ER: they have no other choice but to terminate that study.  There were 89 patients enrolled in this study. Ultragenyx will  continue to support other efforts to find a solution for GNEM.  Currently, they are working on pro-drug program for GNEM which is a version of Sialic Acid that is now in the early stages of a preclinical trial.  

Dr. Mendell outlined the process for applying to the FDA for the pre-IND and IND approval for gene therapy. He further stated that in order to proceed with the gene  therapy process, the following will need to be done:


  • One must have good clinical data to show the FDA such as "proof of concept" and "proof of principle."  
  • Preclinical data to show the FDA, that there is efficacy in an animal model.
  • FDA will then assist the investigators in preparing a delivery scheme to proceed with the chosen form of gene therapy.
  • Dr. Mendell is using the mouse model from Dr.Nishino and the transgenic mouse from Dr. Rosenbaum.
  • The delivery gene that contains the virus still has to be tested on several hundreds mice and on  non-human primates for toxicology purposes.
  • Dr. Mendell also discussed the various vectors, promoters, and systematic delivery methods.
  • There is possibility of a ten fold gene expression in the GNE gene using an MCK promoter which could allow the gene expression to persist for over one year.
  • To proceed with toxicology tests $300,000 is needed and about $3.5 million would be needed to proceed with GNEM gene therapy trial on humans.
Ms. A. Curran, Certified Patient Advocate, NDF shared her impressive GNEM journey and gave the reason for which she became an advocate.
Ms. Lale' Welsh, CEO, NDF presented 10 certified advocates (from various countries) with awards and pins with the hope that they would return to their respective countries and generate increased awareness of GNEM. 
                               Scientists and doctors enjoying an outdoor lunch at the Symposium.
Symposium Day 2

On Day 2 there were various break out sessions as follow:

1.  Mr. Clements, Monterey Peninsula College, CA, worked with patients, family members, and caregivers on various adaptive exercises.
2.  Dr. Tabibian, NDF Board Member, led the patient group in meditation and nutrition.
3.  Dr. Kubacky, Psy.D met with patients only in a private session to discuss various ways to deal with our disease.
4.  Ms. Gelbard, LSCW and Dr. Rahban, both NDF Board Members led a group consisting of family members and caregivers.
5.  Mr. Loren, NDF Board Member moderated a consortium and data-sharing session with scientists, physicians, industry professionals, and NDF Board Members.
6.  Ms. Curran and  Mrs. Voogel, both NDF Certified Patient Advocates, led a patient-only group where they discussed, shared, and demonstrated various adaptive resources that GNEM patients may find practical and helpful in their activities of daily living.

The NDF 's fourth annual symposium was well attended with approximately 40 GNEM patients, family members, and researchers from more than 15 countries. The NDF has planned for this-one-of- a-kind Symposium for over a year.  There were a variety of complexities to pay attention to in order to assure that all our patients get the appropriate transportation from the airport to the hotel, get accessible rooms, and be able to coordinate with vendors for wheelchairs to name a few of the complexities.

Ms. Curran and Mrs Voogel, NDF Certified Advocates set up a "Whatsapp group" to assist with communication and updates of the Symposium. There was a caregiver liason, Mr. Pizzi who was ready to transport the patients and scientists in a shuttle to the various venues around UCLA campus. 


Seen and experienced from the eyes of a GNEM patient, my takeaway from this Symposium is that I felt that we were united as a GNEM group both, patients and scientists.  We were united in one goal and the goal is a cure for GNE Myopathy. Additionally, I felt that we were very fortunate to have these "Giants" (talented, dedicated scientists) working on our rare disease.  There are more than 7,000 rare diseases and GNEM is getting their attention.  

We have had a minor setback with the termination of the Sialic Acid trial, but setbacks are not failures. It may lead us to a deeper understanding in how the GNE gene works and interacts with our other genes. Let us remind ourselves that we are warriors, everyday warriors.  We face extreme challenges every day  with our physical selves. Our long-term vision must be to find a cure.  We must continue the effort to get patients accurately diagnosed in our communities.  We know we have not yet scratched the surface since, per the NIH calculation, there are approximately 40,000 GNEM patients world wide of which only a small fraction is known to researchers. 
Strength lies in number and our job is to find these patients.  


I want to thank my extended GNEM family (my beloved GNEM friends, Lale', Nancy, Amy and Jon) for giving me the opportunity to experience your presence at this Symposium.  Without the undying love of a mother for her daughter we would not have the NDF.
We are STRONG just after our exercises, nutrition presentation, and sharing many practical tips. 
For detailed discussion of the Symposium, please visit:
1.  NDF Facebook Page

2.  Curehibm.org

 "There's a silly notion that failure's not an option at NASA. Failure is an option here. If things are not failing, you are not innovating enough." Elon Musk


Thursday, August 17, 2017

NDF Symposium on August 24 & 25, New Brochure for World Without GNE Myopathy, Newly Formed Group of Turkish Patients, The NIH Site to Monitor for Phase 3 ManNAc Trial

                                                    NDF 2016 Symposium photo
                                         
The Neuromuscular Disease Foundation

The Neuromuscular Disease Foundation (NDF) is gearing up for a full two days' program for the fourth annual symposium. All the major stakeholders involved in GNE Myopathy, including patients will be attending this impressive and highly informative Symposium.  Here are some of the highlights and a link to the agenda:  
  1. The largest symposium to date on GNE Myopathy (GNEM)
  2. Attendees,patients, and scientists from 15 different countries, 
  3. Scientists and researchers who will present at this symposium will include include all the major players in GNEM,  such as those from National Institutes of Health, Ultragenyx, Perkin Elmer, Nationwide Children's Hospital in tandem with Ohio State University, UCLA, Hadassah Medical Center- Israel, Japan, Korea, UK, just to name a few, and a variety of leading physicians in the field of neurology.
  4. The NDF has formed a "Scientific Consortium on GNE Myopathy" led by its Executive Director and Board to encourage and expedite sharing of data on GNEM so that we could move towards a cure.  
  5. The NDF is maximizing the potential of this gathering in order to streamline issues that affect not only scientists but also patients, their caregivers and family members, which go often unsupported. The NDF is accomplishing these important goals through special programs by addressing health, nutrition, psychological aspects of the patients and advocacy.
  6. The NDF is recruiting and training 8 "Certified Patient Advocates" to help create awareness and action by cohosting GNEM Patient Days in their hometowns and respective countries. 
  7. The NDF is very sensitive and attentive about the needs of rare disease patients. They have listened to patients suggestions and is offering sessions for "patient-to-patient" only, and a separate session  for family/caregivers.
  8. The NDF is generously paying for travel scholarships to many patients, as well as providing lodging and meals for patients coming from many foreign countries and within the U.S. 
  9. NDF is supported for this Symposium  in part by Ultragenyx, public donations including patients, doctors, and board members.  It takes a village, including you, to fund  a cure for GNEM.     Please consider "Joining the Global Effort to Cure GNE Myopathy and make a donation to:  http://curehibm.org/get-involved
  10. Link to current agenda for the Symposium
  11. Link for NDF Facebook page to follow live streaming of the Symposium.
World Without GNE Myopathy, India
World without GNEM (WWGM) is diligently working to generate awareness and understanding of GNEM globally, and to accelerate development of a therapy for GNEM. They have recently created a brochure to further this cause.  Please visit their site.

Turkish GNE Myopathy Group
Many GNEM patients live in Turkey.  They have recently established a Facebook group. GNEM patients living in Turkey are encouraged to join this group..

Recent  GNE MyopathyNewsletters
1) Neuromuscular Disease Foundation, Summer Edition
2. GNEM-DMP  Eight Edition

The National Institutes of Health   NIH National Human Genome Research Institute
ManNac Trial Phase 3. Please monitor  this site for any updates and for when the trial will be recruiting patients. ManNac Trial Site.

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 fiancĂ©, 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

Newsletters:
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/