tara

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

Thursday, September 27, 2018

We All Want a Cure for GNEM: Find Out More in this Recap and Video Presentations of the NDF Fifth Annual Symposium and Upcoming GNEM Events




Most people in the GNEM community ask questions such as the following: (1)  Why is there not a cure yet? (2) What is the NDF doing to promote a cure? (3) When will the next ManNAc trial begin? (4) When will gene therapy begin?  At the NDF Fifth Annual Symposium these questions and more questions were answered. There are over 7,000 rare diseases for which only 5% have approved therapies. Therefore we are quite fortunate that our disease (GNEM) has been  attracting more doctors and researchers to collaborate with organizations like the NDF to find an effective cure.

The NDF has been asking:  "Why is there not a cure yet?" It has been pursuing an effective therapy since its inception in 2006. This is the reason, the NDF has been having  yearly Symposiums to connect the brightest scientific minds involved in GNEM research with  GNEM patients face-to-face. The reason NDF exists is to get a cure for GNEM patients, and it has never faltered from its mission.  A CURE and this pursuit continues to be its modus operandi (MO).

The focus this year consisted of a continuation from the last year's Symposium that brought researchers and patients together to continue exploring every avenue for a possible cure.  Each year the researchers present their current findings and research. This Symposium was attended by patients from throughout the world specifically the Ivory Coast, Italy, Israel, Germany, India, Korea, Nepal, Canada, and the United States. Many patients received travel stipends, accommodations, and meals during this time.
Lale' Welsh, CEO of the NDF, commenced the Symposium with a brief update on all the projects that the NDF undertook last year and are continuing into this year. You may see the update at this video link.
Professor Sudha Bhattacharya from India, representing  World Without GNE Myopathy, attended the Symposium; and she has written a summary of the events described below.  I have added accompanying video links in addition to her summary. 
A summary for the benefit of patients who could not attend prepared by:
Prof. Sudha Bhattacharya, Trustee, World Without GNE Myopathy (WWGM)

Rehabilitation strategies and advice for patients- (Video Link)
Dr. Galen Joe and Mr. Joseph Shrader from NIH demonstrated some of the exercises for patients.
They mentioned the following points that will help patients.
 You should be aware of the barriers in your home/work place that affect your activity. You should ensure that you have safe mobility and functioning in your environment.
-        Posture is very important. It will help to maintain your core strength which will give improved energy.
-       You can work your core muscles by the following exercise: sit straight without support; raise your arms till shoulder level and breathe deeply.
-       Simple exercise for core strength- Sit straight on a chair. Rise up from chair. Repeat 10 times. If finding difficult you can place a thick sponge or cushion on the chair before sitting
-       Recommend aerobic/cardio activity for at least 150 minutes per week. It should be spread out during the week rather than exercising occasionally. Regular exercise is recommended at the level suitable to each individual.
-       Exercise precautions: Do not overload any muscle. Train at sub maximal intensity. Important not to over use any muscle. Exercise and condition all muscles- not just the weak ones. While exercising think of groups of muscles rather than individual muscles.
-       Foot braces should be of light material so that foot comes down easily when you take a step.

Regarding Therapy for GNE Myopathy
ManNAc trial by NIH-
Dr. Marjan Huizing (NIH)  (Video Link)
Phase 3 trial is planned to start from beginning of 2019. Ms. Kennan Bradley (NIH) will be handling it.
International patients can also register. Write to Kennan Bradley for details (kennan.bradley@nih.gov)  Patient screening for the trial will start in the beginning of 2019.
Objectives of phase 3 trial-
-       To measure whether progression is slowing down
-       Long term safety
-       Evaluate effect on physical function and activities of daily living as noted by the        patients
      -   4gm ManNac x thrice daily will be given in the trial. It will be implemented through     NeuroNEXT. 
The investigators are Dr. Amato (Harvard) and Dr. Nuria Carrillo (NIH). Pharma Company partner for the trial is- Leadiant Biosciences
Duration of the trial will be 24 months. 51 patients will be on the trial, of whom 17 patients (33% ) will be on placebo (patients on placebo do not receive drug).
Inclusion criteria- Those patients are eligible for whom both GNE mutations are known. That is, the two GNE mutations which each patient has, are both known. Genetic test should be certified.
End point- Quantitative muscle strength (QMA) will be measured to know how well the drug worked.
The analysis is regarding whether there is a slowing in rate of progression
Nancy Parsons (representative from Leadiant Biosciences, the Company partner for the trial) (Video Link)
She described the experience of their company in developing drugs for genetic disorders. NIH had approached them to bring ManNAc to patients. They have looked into manufacturing process of ManNAc, and how to optimize it. They will also design the trial to meet FDA guidelines. (FDA is the US regulatory body that approves clinical work and new drugs).
Leadiant also looks into pricing, and that the drug should be available to each patient. Will look at reimbursement policy (This would perhaps be relevant for US patients).

Data from ManNAc phase 1 and 2 studies already completed by NIH (Video Link)
Patients were given 3g, 6g, and 10g ManNAc (each dose), twice daily. 6g showed better result than 3g, but higher dose of 10g did not show better results than 6g.
Phase 2 trial was for 30 mth. It has just concluded.
MRI-guided muscle biopsies were taken in phase 2. These were examined and showed improvement in patients taking ManNAc.
They measured disease progression by MRI, functional tests, and patient-reported outcomes. The statistically analyzed, detailed results will be available by Dec 2018.

Some conclusions from phase2-
ManNAc did not show any adverse side effects (except complaints with digestion, which were quite common). It was generally well tolerated by patients.
Taking a single high dose of ManNAc is not as beneficial as taking multiple smaller doses. They recommend 4g, thrice daily rather than 6g, twice.

Gene Therapy-
The consensus in the meeting was that Gene therapy is the most promising mode of treatment for GNEM and deserves to be pursued urgently. We need robust funding to develop the technology, test it and obtain FDA approval. One can expect a minimum of seven years for FDA approval for drug use, after we start the work. Work has to be started fresh since the earlier work done by Jerry Mendell is discontinued.

Lale Welsh (CEO, NDF) (Video Link) informed that they have commitment of $2.5 million from anonymous donor as matching grant to be used only for gene therapy. Matching grant means they will have to raise funds ($2.5 mn) of their own to get this grant. This money will be used for gene therapy studies for phase 1. After that it will be taken up by biotech/pharma company. They are in touch with companies like Sarepta.
The study has to be carefully designed with the help of experts so that it meets the requirements of FDA. Otherwise approval will not be granted for clinical trials. It is not clear to me exactly who will be conducting this study.

Other Studies-
Dr. Madhuri Hegde (Emory Univ., USA and Perkin-Elmer) (Video Link)
She will be doing whole genome sequencing (WGS) of 100 GNEM patients. (WGS means studying the DNA sequence of ALL the genes and not just the GNE gene alone). The idea is to understand whether any other genes (other than GNE) are important in giving the symptoms of GNE myopathy. This is because patients differ a lot in disease progression and symptoms. Even siblings of the same family show difference in disease severity and progression. It could be that other genes have an effect.
Dr. Monkol Lek and Dr. Angela Lek (Yale Univ., USA)  (Video Link)
They will be collecting patient skin samples to do RNA sequencing. This will give them information about the differences between GNE myopathy patients and healthy individuals in terms of their RNAs. If any RNAs are found which are clearly different in patients, that is, their levels may be increasing or decreasing in patients, these can be useful to look at disease progression, and to monitor future therapies.
They will also do WGS (DNA sequencing) from patient blood samples.

Patient session (Video Link)


Amy Curran (GNEM patient) and Jonathan Pizzi (Program Managers, NDF)
They gave useful tips for patients. They gave suggestions about nutrition, and about gadgets that can help patients to negotiate daily tasks. Some examples are as follows. Further information on these gadgets is available on the Internet.
-       EazyHold (Kerry and Merrily) from The EazyHold company were present to demonstrate assistive  implements  –made of silicon and helps to hold small or large objects
-       Moving Life makes a foldable scooter for mobility
-       Walkers – Nitro Euro - rollator
-       In the kitchen can use Multi Opener which is 5-in-1 to open bottles, cans, jars etc.
-       Bed - ProBed which can help patients turn sides.
-       Bathroom - to make the floor less slippery you can put small floor tiles- 1 inch x 1 inch, or 1 inch x 2 inch. ShowerBuddy is a user friendly accessory for the shower.
-        Living area - can use Clamp Champion- a large clamp that can be fit anywhere- say on the arm of your sofa. You can fit your laptop or tablet or phone to it while sitting on the sofa.
-        Mount n Mover- To mount devices on wheel chair, bed, table etc.
-         Alber Scalamobil- is a stair climber for wheelchairs.
-         For details,  visit adapts.org
In addition to Dr. Bhattacharya's summary, there were private sessions for patients and caregivers with a psychologist and a social worker respectively.  There was a separate lounge with snacks and refreshments available for all patients.  This was a very helpful and meaningful addition to the Symposium this year, as patients and caregivers were then able to meet together prior to the Symposium.
After all the sessions of the first day, there was a reception/dinner accompanied with live music.  At this dinner the NDF enlisted four more Certified Patient Advocates from Germany, India, the Ivory Coast, and Israel.  
Besides the many events of the Symposium, we were able to see through the eyes of Saskia, a GNEM patient from Germany a video log of her trip to Peru.  Here is a link to her Jungle Expedition:https://www.youtube.com/watch?v=QA4x2vSkUjQ&feature=youtu.be

Also, Dr. Sepideh Tabibian presented Holist Approach for Coping with GNEM.  Here is a link to her presentation:  https://www.facebook.com/NDF.HIBM/videos/vl.2159531020989886/500981303706758/?type=1

For the past two years I have been attempting to get  an official from the City of Los Angeles to attend the NDF Symposium in order to make a declaration on behalf of GNEM patients.  This year, the offices of Mayor Garcetti were kind enough to send Mr. Jasson Crockett from the Department of Economic Development to present the NDF with a Certificate of Congratulations for NDF's dedication in finding a cure for GNEM. In conclusion, I want to express my sincere gratitude to all the GNEM patients (my dear friends), their families, and the researchers who attended this amazing Symposium.  Here is a video link for this. 

Upcoming Events within our GNEM community:

1.  WWGM is participating in Airtel Delhi Half Marathon on October, 21, to build awareness around GNEM and to raise funds towards research and treatment
For more, please visit:  https://www.facebook.com/SupportGNEMyopathy/
Image may contain: one or more people


2.  NDF Gala for the Arts:  Join the NDF on November 11, 2018 to celebrate a unique evening or art and music.
The NDF is looking to raise funds to support a $2.5 million challenge grant provided by a private foundation.  The funds raised will support our efforts toward therapies for GNE Myopathy. For more, please visit:http://curehibm.org/



Thursday, August 16, 2018

NDF Fifth Annual Symposium About GNE Myopathy, Recent Events Around the Globe, and Dig Deeper, Learn, and Empower Yourself

Let us seek to invoke the wonders of science...
explore the stars, conquer the deserts,
 eradicate disease, tap the ocean depths,
and encourage the arts and commerce
-John F. Kennedy-


                        NDF Fifth Annual Symposium August 30 and 31, 2018 at UCLA



On 30 and 31 August the Neuromuscular Disease Foundation (NDF) will host its Fifth Annual Symposium. This Symposium has a line-up of  well known researchers, scientists,  physical therapists, patients, advocates, and caregivers besides family members attending.  It will be a two-day, fact-and-fun-filled event that will include up-to-the-minute information, panel discussions, and individualized breakout sessions. The NDF is offering travel scholarships, lodging, and meals to patients and their accompanying caregivers.   If you have not yet registered, here is the link to do so.

Ever since August 2017, when Ultragenyx terminated the Sialic Acid (Ace-ER) trials due to their failure to determine the efficacy of Ace-ER; the NDF has been resolute in exploring all other avenues for an effective treatment of GNEM.  For this reason, the NDF has been consulting and engaging researchers to examine the GNE gene in greater detail because there seems to be  a consensus among researchers that we still do not know all the attributes of the GNE gene; hence the Perkin Elmer Genetics Study on Whole Genome Sequencing was initiated. Further, the NDF  has appointed Dr. Lek as its Scientific Director earlier this year.  Dr. Lek plans to study samples of blood and skin needle biopsies of patients to bring us further understanding of GNEM.  For patients and families interested in submitting their samples at the upcoming Symposium, please contact the NDF.



NDF Goes Global
Although this year may seem like not much is happening within our GNEM community, a substantial amount of work has been going on towards getting an effective cure for GNE Myopathy.  Since last August the NDF has certified a group of Patient Advocates who have since returned to their respective countries and organized Patient Days.  With these Patient Days we are discovering more and more mis- or undiagnosed patients.  Recently, Patient Days were held in South Korea, Italy, Israel, Turkey, and the United Kingdom.  For more on these events check out this link.

                                                IMAGES OF PATIENTS' DAYS
Patient Day South Korea
Patient Day, Italy

Patient Day Israel

Patient Day, Turkey

Patient Day, United Kingdom

In addition, World Without GNE Myopathy (WWGM) organised a conference in February in New Delhi.WWGM is also working diligently to increase the awareness of GNEM.  For a write-up on this event, refer to this link.

                                                    GNE Myopathy Conference in India
Dig Deeper, Learn, and Empower Yourself  About GNEM  

1.  There are more than 190 mutations known to  researchers.

2.  There has been a scientific calculation that shows that the prevalence of GNEM in the world population is 6 cases per million,therefore our disease has been definitely either mis- or under-diagnosed.

3.  Sialic Acid is a substrate (Ace-ER) that was withdrawn in August 2017 due to its  failure to prove efficacy in its Phase 3 trial. Ultragenyx, mentioned last year, it is now working on a Pro-drug.

4.  IVIG therapy was tried, but with very little sustained-strength improvement resulted from this therapy.

5. Gene therapy using Lipoplex was tried as a compassionate use on one patient. So far, not much has been reported on this trial, although the "proof of principle" has been demonstrated.

6. The NIH will start Phase 2B later this year using ManNAc, another substrate.

7.  The NDF, in collaboration with Perkin Elmer Genetics, launched a Whole Genome Sequencing, a project to further the understanding of the molecular pathway of the GNE gene. This study started in early 2018.

8. The NDF appointed Dr. Monkol Lek as its Scientific Director earlier in 2018.  Dr. Lek plans to further the understanding of the GNE gene by using samples of blood and skin biopsies of volunteer patients and their first-degree family. There is nevertheless much more to know about the GNE gene.  Dr. Lek's hope is that the results of this project may lead to future effective therapies.

My Commentary - The Enigma of GNEM
It is my current understanding  that for gene therapy to be effective, that it may be transferred only once.  Therefore, if there is only one chance of an effective treatment, we will need to be absolutely sure that this form of therapy will be the one and only sure cure.  We must know beyond any reasonable doubt that whatever form gene therapy comes in, it should be effective and will not cause serious debilitating medical problems. If I could be presumptuous enough to speak for others, I would like to see a therapy whether or not it would be gene therapy, gene editing, small-molecule RNA, or something else to reverse, restore the depleted muscles and stop all progression of the disease.
Presently, it seems like there are still issues that need to be explored in order to understand more in-depth about the GNE gene.  We need to examine  to what extent other genes are interacting with the GNE gene.  If other genes are interacting with the GNE gene,  do they play a role in the onset, symptoms and potential recovery of GNEM.  Some lingering questions for me are why my siblings who have exactly the same mutations  that I do, show varying degrees of symptoms, severity,  progression, including age of onset.

Some in my family have been hoping for a cure since the mid-1970's, and I likewise have been waiting and hoping for a miracle. Nevertheless, hope seems to sometimes elude me.  In the meantime, I will continue to pour out my efforts into finding more patients, assisting more patients, and more families to get appropriate resources, definitive diagnosis, and mentor others to advocate for GNEM.


Monday, April 23, 2018

Recent and Upcoming Events Within Our GNEM Community: WWGM Conference in New Delhi, India, First NDF Online Seminar, A Patient Epic Challenge Across the Grand Canyon, GNEM Advocates Host Patients' Day in Turkey and in the United Kingdom

WWGM Conference in New Delhi, India (1)
WWGM organised its first ever GNE myopathy conference and patient day on ‘Perspectives in GNE Myopathy: Research, Clinical Management & Patient Care’ on February 16-17, 2018 in New Delhi. The conference was attended by close to forty patients and caregivers and close to thirty scientists and doctors from ten different countries. The conference brought patients, scientists and doctors together over intense rounds of discussions on various aspects of GNE myopathy for a packed two days.

The conference was inaugurated by Dr. V.K. Paul, a member of India’s leading central governmental planning body called the NITI Aayog and Dr. V.M. Katoch, former Director General of the Indian Council of Medical Research, who were both very encouraging about the role that patients can play in developing drugs for rare diseases.

 In addition, the speakers at the conference included leading scientists and doctors working in the field of GNE myopathy and in allied fields with possible applications to GNE myopathy. Some of the areas discussed included
  • The basic understanding of GNE myopathy, why it is caused and the science behind it.
  • The medical symptoms that patients of GNE myopathy show and the general characteristics of patients.
  • Possible treatments and therapies such as gene therapy, sialic acid and ManNAc supplementation, stem cell therapy, small molecule therapy and alternative therapies such as Ayurveda. The discussion involved what could be the best way forward to treat GNE myopathy.
  • Different ways of diagnosing and testing GNE myopathy including how data collected from MRI and gene testing could be helpful.
  • Collecting patient data through registries.
  • Ways of managing GNE myopathy and the disability caused by it.

 Some interesting insights provided at the conference included:
  • There was an interesting debate on whether sialic acid deficiency is the primary problem that needs to be corrected to reverse symptoms of GNE myopathy. There were different views on whether the deficiency of sialic acid is the sole reason for the symptoms seen in GNE myopathy. The conclusion is that there is insufficient data to conclusively prove either side.
  • The Ultragenyx trial may have failed for some technical reasons and not due to inefficacy of the SA-ER drug - such as the fact that the criteria for determining efficacy of sialic acid was changed in phase III of the trial.
  • NIH is conducting a phase III trial for determining efficacy of ManNac in reducing the rate of progression of GNE myopathy. They will be recruiting 50 patients across different centers in the US. International patients are welcome.
  • A workshop is being planned in Europe in September 2019 where all GNE myopathy scientists are meeting. The aim is to brainstorm for future therapies/clinical trials for GNE myopathy.
  • Small molecule therapy may be a promising and faster to develop alternative treatment for GNE myopathy.
  • Other suggestions for possible alternative drugs that could be taken by patients include Arimoclomol- a drug to slow muscle degeneration; N-Acetyl Cysteine (NAC) for muscle atrophy and sialyllactose which might be more effective than sialic acid.
  • Potential gene therapy resources in India: Dr. Arkasubhra Ghosh (GROW Labs, Narayan Nethralaya, Bengaluru) has extensive experience in gene therapy using AAV vectors. After joining GROW labs as Director he has set up a clinical grade vector production facility for AAV vectors and is in the process of conducting a gene therapy trial for an eye disease.
  • Potential stem cell therapy in India: Dr. Sujata Mohanty (AIIMS, New Delhi) has set up a state-of-the-art stem cell facility at AIIMS. They have taken the skin cells from patients, including one DMD patient and made induced pluripotent stem cells (iPSCs).
  • The maximum number of confirmed GNE myopathy patients in India have been correctly diagnosed by Dr. Nalini at NIMHANS, Bengaluru and by Dr. Khadilkar at Bombay Hospital, Mumbai.
  • Age of onset in Indian patients is generally 25-29 yrs. It is later for patients with both mutations in kinase domain compared with those in epimerase domain, or one mutation each in epimerase and kinase domains. Mutations are spread throughout the GNE gene. The most common mutation in Indian patients is Val727Met. It is found in 70% patients.
  • Strand genomics (Bengaluru) also do DNA testing for GNE myopathy in India. Dr. Mannan from Strand informed about the extensive sequencing done by them for a large variety of rare genetic disorders.
  • The benefits of yoga were demonstrated through a live yoga session.
The patient day ended with a sightseeing trip to see the sound and light show called ‘the love for Delhi’ at the Old Fort in Delhi.

For further enquiries or more information please visit www.gne-myopathy.org or write an email to wwgm.india@gmail.com

(1) Summary of this event submitted by Drs. Shilpi Bhattacharya, Sudha Bhattacharya, and Alok Bhattacharya
Some Images from this event:


Meeting the Researchers

Time for Yoga and Stretching
Shilpi (WWGM ) And Andrew (NDF)


NDF First Online Seminar

The Neuromuscular Disease Foundation (NDF) held its first online seminar series on April, 14, 2018.  Nancy Lurie, Director of Operations, introduced the presenters:  Lale' Welsh,  Dr. Monkol Lek, and Dr. Marjan Huizing. There were thirty-eight attendees from nine countries. Lale' Welsh, CEO of the NDF,  presented information on the current projects that the NDF is working on in order to expedite an effective therapy for the GNE Myopathy patient community; which is done by advocacy, outreach, education, besides collaborating globally with other GNEM scientists.  Some of the areas that the NDF is currently working on include the Pre-Ind phase for gene therapy, enlistment of GNE Myopathy patients from around the world to hold events in their home countries, such as a "Patient Day" to educate their communities about GNEM, including launched a consortium of researchers who have agreed to share new data on GNEM.  In addition, the NDF is collaborating with Perkin Elmer to conduct Whole Genome Sequencing paired with metabolomics on 100 GNEM patients.  The NDF is inviting patients to submit their genetic mutations for analysis.  To submit your relevant paperwork, please send to: curehibm.org

The NDF has recently appointed Dr. Monkol Lek to their Scientific Advisory Committee.  Dr. Lek is an Assistant Professor of Genetics at the Yale School of Medicine.  During his time at the Broad Institute, Dr. Lek lead the exome/genome analysis of MYOSEQ which has resulted in a novel disease gene discovery.  Dr. Lek made a presentation on exomes and the whole genome including the variants and the proteins that encode our genes.  Accordingly, Dr. Lek is an invaluable addition to the NDF Scientific Board as he himself suffers from LGMD, a muscle disease, and so he will be able to relate more fully to  the plight and concerns of  the patients.
Dr. Lek did mention that GNEM patients may well be interested in reading up on gene editing and the gene replacement approach.

Dr. Huizing from the NIH presented on both the pathway and synthesis of Sialic Acid within the cells. She mentioned that GNEM patients can still make Sialic Acid, but the amount is decreased.  In addition, she noted that when ManNAc is taken, studies show that it enters the cells and is maintained in the blood stream for 8-10 hours.  Then, tests show SA in the urine; therefore we know that ManNAc is used by the cells, and then it is converted into Sialic Acid. Dr. Huizing mentioned that later in 2018 the NIH will start a multicenter trial using ManNAc where they will be able to accept 51 patients with a 2:1 ratio of ManNAc to a placebo for a duration of 24 months. For more on this study, please visit the NIH website.

Sialic Acid Pathway
Sialic Acid Pathway within the cell (NIH)
This online seminar was very educational indeed and was attended by 38 patients and presenters from nine countries.  Please monitor this site for updates on the the next seminar.

Upcoming GNEM Events Around the Globe
Inviting Patients to Submit Genetic Mutations for Potential Analysis

The NDF is collaborating with Perkin Elmer for Whole Genome Sequencing paired with metabolomics.  The NDF  is inviting patients to submit their genetic mutations for analysis.  To submit your genetic mutations, please send to info@curehibm.org
To read more on this project click here.

Cara, a GNEM patient who took on a 200-mile expedition through the Grand Canyon
Cara and her team


In the month of April Cara  has embarked on an epic challenge to traverse the rugged terrain of the Grand Canyon.  Her goal is to shatter the stigma of those living with disabilities and to increase the awareness of her rare muscle disease GNE Myopathy. She is partnering with Film Independent to document  her journey into the Grand Canyon. For more on her story, to find out the release date of her film, and to donate, please visit:  http://www.princessrising.com/

At their 2017 Symposium The Neuromuscular Disease Foundation (NDF) enlisted dedicated patients worldwide to become Certified Patient Advocates (CPAs).  Since then these CPAs have organized Patient Day events in South Korea, Italy, and Israel.  In the coming months two such events are planned for Turkey and the United Kingdom.  Here are the details for the upcoming events.

GNE Myopathy Patient Day in Istanbul, Turkey, May 07, 2018
Capa Medical School

This is the first-ever GNE Myopathy Patient Day will be held in Istanbul,Turkey, on May 07, 2018, at the Istanbul University at Capa Medical School.  This event has been organized by Dr. Suleyman, an NDF Patient Advocate, Turkish Neuromuscular Disease Association and others.  For more information, please visit this link:   https://donate.curehibm.org/event/ndf-patient-day-on-gne-myopathy-istanbul/e173623


GNE Myopathy Patient Day in Manchester, United Kingdom, August 03, 2018
Joining Global Forces to Cure GNE Myopathy
Mona, an NDF Certified Patient Advocate has organised a patient day in the United Kingdom to take place on August 03 at Manchester Metropolitan University.  The theme for this event is " Educate, Enable, and Empower." This event has been organised to encourage individuals affected by GNEM to come together to hear about recent research and to share their experiences with each other.  For details, please refer to this link. 

Save these dates -- August 30-31 for the NDF  Fifth Annual Symposium  More Details to follow.

Ultragenyx Patient Day
I was very honored to attend the recent Ultragenyx Patient Day in Novato, California.  Ultragenyx holds a very precious place in my heart as this bio-pharma company is making headway against many obstacles to find therapies for rare disease patients. At their annual event they honor patients, families, advocates, and caregivers with a day long celebration of food, games for children, and music.  Here are some images.
The offering of this  Mighty (travelling) Mug 

It takes more than one GNEM patient to hold this Mighty Mug 

Sunday, February 18, 2018

Living with a Rare Muscle Disease: A Turkish Woman Rises Above Disability, Poverty, and Gender Bias, Rare Disease Happenings Within the GNEM Community

To commemorate Rare Disease Month, observed world-wide every February, I want to highlight a Turkish woman who lives and thrives with a rare muscle disease in spite of poverty and disability.  I was touched by her undaunted spirit , and her perseverance in becoming a productive member of society while facing obstacles that would stop most people.  Fatma is no ordinary person.  Here is her story.
I am Fatma and was born in rural Turkey into a family of eight other siblings. From a very early stage in my life I was aware that I was suffering from a muscular disease namely Limb Girdle Muscular Dystrophy  (LGMD 2E) this was when I was in primary school. My family was not aware of the support they could get for their children because of their socioeconomic level in society.  I also did not know if there was any  assistance available to help me increase my opportunities.

A  low-income family living in an underdeveloped society, and having a disabled daughter in this society, was truly a monumental challenge for my family.  Nevertheless, this daughter had dreams of becoming free, constructive,  and becoming a “fully functioning human being.”  My dreams seemed impossible, and so I realize that I could not accomplish these dreams on my own resources. I know from my experience that everything begins with creative imagination. I think that I remained true to my dreams.

Some questions arose for me such as how could my dreams become real in a society where women were second class citizens who have no right to an education. Maybe I wanted was impossible as a disabled girl since her society did not permit girls to have an education.

When I finished high school, I brought together two friends to help me accomplish my dreams.  These two friends (my sister and my brother) shared with me the same fate, this muscle disease. I knew I could not go backwards, nor give up because I need to be a strong example for my siblings who also have this disease. 
I experienced many insults in primary and high school  nevertheless I persevered to graduate from both.  I thought about attending university but realized that there was no accessible university for people like me.  My family did not have the financial means to support higher education for me. Against all odds, I won  a place in the Economics Department at a university but then found out that I could not ascend the stairs of the building  to take the exams.

Another one of my dreams was to have a job because I knew I would then be economically independent and maybe I would be more creative. I went on to register at an employment agency after I finished high school; however I waited for years for a job but could not find one.  I even wrote to a Tatvan member of parliament with hopes but only received a response that I should be patient.  I waited for years to hear more from this member, but it soon became clear to me that this member did not understand the struggle I had from living in my disabled body. 

During this time I started to think about how other persons who viewed disable persons, and how insensitive, un-sympathetic, and ignorant society can be to us.  It became clear to me that I must then fight with all my power about the difficulties of living in a disabled body.  To me, it seemed that no matter how hard I fought, nobody heard or remotely understood me.  Not only do I live with my disability, my parents, family, and some close relatives also live to some extent in my reality. Sometimes, I feel as though I have heavy shackles on my feet.  There are many obstacles to overcome when you are disabled, for example, when my Math teacher said, “what happens when you are educated,” when the  Member of Parliament won Parliament with my vote who had the same perspective as my math teacher.

Many  people said that it is better if I stayed at home with my family and accept my fate as a disabled person.  I struggle with people who tell me that I should not work, should not go to the university, or should not do this or that.  That would be too many rejections for me to accept because I saw myself as a “functioning human being.” These rejections made my existence very difficult, yet I continued to dream.  According to me, being human, loving, being creative, and being able to work  facilitate human-ness; in fact, these life conditions are very liberating and I want to experience these indispensable qualities of life.

I noticed it is knowledge that I am drawn to by reading books since people avoid my friendship. I find the answers to my challenges in sociology, psychology, literature, and philosophy. Descartes says, “Reading  good books is like talking to the best persons of the past centuries”.  I learned that there was a connection between sensuality and sensibility when we learn more. I noticed that learning was endless, and it illuminates the senses which helped me to state my opinions and ideas.  Learning has empowered me as a disabled woman.  Because of this reality, reading, learning, and loving unconditionally  in any situation, no matter whatever happens are indispensable to me.

My journey as a disabled woman living in rural Turkey consisted of societal norms such as I could not be free to be myself physically because of the stigma associated with disabled individuals. My brain and heart flutter with freedom, the freedom no one can see; however, I feel and know this freedom.  I am not unhappy with my condition now since I as give un-conditional love and affection to everyone I meet.
I am now 45 years old, I lost my brother when I was a child, and I knew that I would be dependent on a wheelchair, like my brother, in the future.  Only that I would be in a wheelchair, I did not know anything else about my disease.  In the earlier years when there was no internet, there was only one way through which I could get information.  It was a journal  named "Hope and Life,” published  every three months by the Neuromuscular Disorders Association of Turkey. My sister, my brother, and I eagerly looked forward to reading this journal hoping to see new developments for our disease.  We met with frustration every time as the journal failed to report on any new developments for us.  We felt helpless.  Finally, in 1992 I went to Istanbul to learn more about our disease.
I remembered that day as I traveled hundreds of kilometers. I talked with my doctor for a few minutes; then he took a sample of my blood for analysis and further told me that I should get a biopsy soon.  I wanted to ask  many questions, but my doctor told me, “My dear Fatma, I have no time.”

I returned to Istanbul very many times for biopsies. I did not hear back about the results of my biopsies.  Years later I learned that the Laboratory of Çapa Medical Faculty Hospital was not equipped to test for my disease. Our doctors did not have the tools to diagnose many types of muscular diseases in Turkey at that time. Unfortunately, there are very few specialists who thoroughly understand the  different types of muscular diseases in Turkey. I lost my two brothers because of wrong treatments, ill-equipped doctors, and lack of basic equipment such as a BIPAP machine.  Also there was no proper Intensive Care Unit at the State Hospital in Tatvan.

The majority in our society cannot understand the scientific field and what it is like to live a quality and independent life. For patients to live independently is also big obstacle for many patients and their families.  Many patients, because of lack of knowledge, are unable to follow the instructions given to them by the specialists. For that reason I could not rescue my brother, who had respiratory troubles.  He was 30 years old, and like me he had many dreams but in the end I lost him.

Because of my experience in living with a muscle disease, I have dedicated my life to help those with muscular diseases. I now work for  the Board of the Muscle Disorders Association of Turkey.  I feel desperate every time I receive a phone call from a patient’s family and hear that they are in the Intensive Care Unit because I know the results that they will experience.

From living and learning here is what I have observed about the The Plight of People Living with Muscular Disease in Tatvan, Turkey:
Muscular dystrophy patients cannot obtain the knowledge to live a more qualified and humane life. Many are poor, cannot read, and are unable to leave their homes. They cannot receive basic medical help or any physical therapy they the would especially need.  All these basic needs should be solved effortlessly within a social state but it is not the case in Turkey.  Most of these patients are unemployed, although they have made all the effort that was in their power for many years.

For now, some rights that already were established for those with disabilities were taken back silently. For example, three months of financial assistance to thousands who are disabled were discontinued abruptly.  I think my turn will also come soon. We are mostly society that believes in fate.

There are very few neuromuscular disease doctors in Turkey.  Additionally, it is very difficult for patients to contact a specialist to learn more about their disease. Most patients do not have knowledge about their disease; they traveled from very far and then wait for hours in front of the poli-clinic, and then are told that there is no treatment.  Most return home with despair, beaten down, depressed, and hopeless.
 Patients who have financial means, however, and have a little bit knowledge try to learn more about their disease, yet they can not get sufficient knowledge. Patients in Turkey need to live as independently as possible and need to get appropriate support and knowledge about neurology, cardiology, physiotherapy, genetics, orthopedics, dietetics, and finally, psychological help.
You may contact Fatma here for the Turkish version of her story.  



Happenings in the GNEM Community:
1.  The Neuromuscular Disease Foundation (NDF) has launched a page "Rare Reality" on their website where GNEM patients are encouraged to share their story, here is the link.

2.  GNE Myopathy International (GMI) has recently  conducted a 2 day conference on the Perspectives on GNE Myopathy, for updates check here.  http://gne-myopathy.org/