Mona's Effort At Raising Awareness For GNEM, NDF's - Impressive Patients' Day Symposium, Newly Launched Website, Sialic Acid Trial Now Recruiting Severely Impaired Ambulatory Patients

When we find out we have a rare disease, initially it can be quite devastating and as time progresses we find out we have choices about how we proceed with our disease.  Here is  one patient's effort to make a difference by raising funds to support GNE Myopathy International (GMI) http://gne-myopathy.org/.  We would like to express our sincere gratitude to Mona, Mayank, and friends for their inspiring effort and initiative to raise funds for our patient organization. 
We, at GMI, are very  proud and touched by their effort and know that initiatives like this are paramount to our community finding and funding a cure for GNEM where our mission  is: "We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy."

Mona's Story:
I live with a rare muscle disease called GNE Myopathy. I’ve not always had the symptoms of it; in fact, I was an active and independently able-bodied person until my mid-twenties so the disease was a shock. Over the years, it’s deprived me of my muscle strength to the point now where I need to depend on equipment with everyday activities and mobility devices to get around. What’s worse is, it makes me feel ‘needy’, which I find difficult but I don’t have a choice. The one thing I do have a choice over is how I deal with this challenge. I have created strategies to help me manage the changes and I have made the choice to embrace the disease so I can try to make a difference to the lives of other disabled people. This disease has taught me empathy, determination, how to confront barriers and reduce stigma, particularly in my Asian community. This disease has brought kind, resourceful, strong-willed and inspiring people into my life for which I am enormously thankful. One such person is my amazing Brother-in-Law.  For more on Mona's story and her fund raising link https://www.justgiving.com/crowdfunding/MonaPatel-GNEMyopathy?utm_id=60&utm_term=jjpPRQnMP

Mayank the Person Behind the Duathlon and Fundraising  
Mayank  has kindly offered to raise money for this cause by taking part in the London Duathlon on 18th Sept 2016 consisting of a 10K run, followed by a demanding 44K bike ride and ending with a 5K run. Mayank's preparation for this grueling feat is based on his dedication to bring attention to GNE Myopathy.  For the past six  weeks he has a very rigorous schedule of  running, biking, and core exercises in order to be in optimum conditioning to participate in the duathlon. URL for this event: https://londonduathlon.com/race-day/route/duathlon

In Mayank's words... out of admiration for Mona, I started training just six weeks prior to the event due to a back problem.I normally raise money for different charities, recently for my sister who suffered badly from rheumatoid arthritis (but thankfully  I am now doing better). Since 2014, I have been wanting to help raise awareness for GNE Myopathy as I have seen Mona's condition deteriorate gradually over the years such that now she needs help to do routine tasks, that I take for granted.  I know that some of the minor difficulties that I faced when I get injured and know how painful, frustrating and depressing things can get not being able to use my body to the fullest even for a short period.  I am amazed by  the resilience Mona has shown year after year and of course her condition is way worse than any injury I have had to deal with. Mona is always eager to participate in life to the fullest - this is what inspired me to take on this challenge to help raise funds and awareness of GNE Myopathy. I hope that money raised will be a start to providing support and one day soon in finding a cure.

And, Mona continues to inspire more people... more recently,  a couple of her friends, Sanjay and Satish decided to set up a second fund raising site.  Their intention is to increase  public awareness of GNE Myopathy and to donate all proceeds to GMI.  Please refer to this link and learn more about Mona:  https://www.justgiving.com/crowdfunding/sat-sanj?utm_id=67

The NDF has planned a two day informative and interactive symposium for patients and family on August 31-September 1st.  Many patients will be attending from the U.S. as well as from overseas.  I look forward to two inspiring days of meeting patients, caregivers, and doctors. I truly believe together we are stronger in curing GNE Myopathy.
Some of the speakers include Dr. M. Hedge from Emory Genetics, Dr. E. Connor from Ultragenyx, Dr. M. Huizing from the NIH and many more.  For a complete lineup of speakers and activities please refer to this link.

http://events.r20.constantcontact.com/register/event?oeidk=a07ecuiyp8578ca192b&llr=5ukeofsab

The NDF has recently launched their new website with many recent updates on testing, research, trials, and a special section on FAQ's.  Check it out and please send us feedback:  http://curehibm.org/

The Sialic Acid trial for severe ambulatory impairment is still recruiting patients - you may contact the sites directly, and let me know if you need  my assistance. Here is the link:  https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2

NDF Third Annual Symposium, My Exercise Routines, Presentations at the International Congress for NMD, New Advocacy Site And GNEM Newsletter in Many Languages

  The Neuromuscular Disease Foundation will be hosting its third Annual Symposium at the University of California, Los Angeles, on August 31 and September 1.  This event will focus on celebrating GNE Myopathy patients, increasing awareness of this disease, and it will present the most  recent developments in GNE myopathy by speakers from the National Institutes of Health, Ultragenyx, and Emory Labs. There will also be a session on nutrition and exercise.  I look forward to seeing many of my friends.  Here is the link to register:  http://events.r20.constantcontact.com/register/event?oeidk=a07ecuiyp8578ca192b&llr=5ukeofsab

My Exercise Routines

I have been intending to post a few of my exercise routines for a long time as many friends and patients have asked me what kinds of exercise I practice.  I know that as GNE Myopathy patients, we are quite diverse in the degree of our progression of this disease, and at the same time limited as to what exercises we can do, due to our physical condition. Therefore, some of us can still run or climb stairs or walk without a cane, whereas others need to use leg braces (afo’s), a cane, or a wheelchair. 

When I was first diagnosed with a muscle disease, my doctor advised me to not exercise because that would hasten muscle weakness.  I spoke to many patients in the GNE Myopathy community, and also to others who have various subtypes of muscular dystrophies, they - like me - were told as well not to exercise.  
Currently, however, I think many in the medical field are looking at what exercises that those with muscle diseases would find most appropriate. More and more the advice of those in the medical field has shifted towards various forms of functional exercises to maintain/improve quality of life for patients.  I believe that the effects of exercise on those with neuromuscular diseases should be examined more completely by the scientific community.

Throughout my life I have never not exercised so when my doctor advised me to discontinue exercise, I continued nevertheless to exercise, knowing that I absolutely needed to pay attention to how my muscles felt.  Specifically, I needed to evaluate how sore, how exhausted or how much pain I felt after my exercises.   As my disease progresses, I continue to tailor my exercises to fit my physical abilities.  I used to dance, jog, and do aerobics. Then I gradually had to change to yoga and tai chi, and now I have to switch to adaptive PE and water aerobics. I am also very attentive and “tuned in” to how my body feels as I begin and end my exercise routine.   If I feel energetic or if I feel any sign of pain or exhaustion I adapt to my new condition. I feel quite weird and funny saying this -"I feel as if my muscles contain memory and are able maintain the memory of my particular daily movements, and they tell me what I can do and cannot do" (LOL).  

At times I compare myself to a younger version of myself - the invincible who has no limitations!  I invariably wish I could muster up the muscle strength to be and look a little more graceful in walking.  This disease has continued its weakening effects on my muscles and has rendered my gait somewhat clumsy, waddling, and slow.

For me, walking feels like I am living in an alien body.  Recently, I looked at a video of me walking. Oh my! I am saddened and have become quite self-conscious, and have stalled in my thoughts - I have even cried! Truly, I mourn daily in very moment of my conscious awareness of how I was once physically capable.  Then I remind myself of a quote by Oriah Mountain Dreamer   "I want to know if you can see Beauty even when it's not pretty, every day, and if you can source your own life from its presence."

     **  PLEASE CONSULT YOUR DOCTOR BEFORE  STARTING ANY EXERCISE REGIMEN

Using a hand control vehicle to get to my exercise class:

This video shows "sit-to-stand".

Using a Nu Step. I use a yoga strap to keep my knees from splaying out.                                  

Here I am using a leg press to target my lower body - quadriceps, glutes, hamstring, and hips.              

 

This one shows my instructor explaining the techniques and purpose for this exercise.              

Postural chain with seated rowing using a theraband.                                                                              

Clinical Trials - Frequently Asked Questions, Founder Mutations, Request of Patients of Indian Origin,Patients' Day, And More

Clinical Trials and FAQ's

When one has a rare disease, it is a  good practice to monitor trial sites and companies that announce GNE Myopathy clinical trials. Participation in clinical trials and natural history studies provide important information to doctors, researchers, and yourself about a particular rare disease.  It is  imperative to participate in clinical trials and registries when you have a rare disease, such as GNE Myopathy, as there is a limited number of patients who can provide data that may lead to a treatment and more importantly a cure.  

Do Participants still get treatment after a clinical trial ends?
The answer to this and other questions could be found at this link - clinical trials 101:

http://musculardystrophynews.com/clinical-trials-101/
Note: It may be frustrating  to see on the clinical trials. gov site that states  "recruiting"; however, when you contact this site you are notified that the study is closed to new participants.  This is because it may take some days or weeks for the clinical trials.gov site to be updated. 

What Is a Founder Mutation?
Some of us may have heard  researchers mention the phrase "founder mutations," in its historical and geographical implications. This is an interesting  piece of the puzzle with GNE Myopathy. "Founder mutations often spare their carriers and therefore can spread from the original founder to his or her descendants." http://www.scientificamerican.com/article/founder-mutations-2006-06/?page=2
For those who are interested in  their ancestral history and how their mutations trace back for centuries, Dr. Argov has published a very interesting and fascinating paper regarding the founder mutations.  He states that "A cluster of GNE myopathy patients due to p.M743T mutation was identified in a small town (Sangesar) in Northern Iran. Many belong to the Bahai religion (a relatively new religion originating in Persia during the 19th century)." Later, in the paper, Dr. Argov went on to note that the European Roma Gypsy's mutation p.I618T  is another founder mutation which dates back to the 13th. and 14th. centuries AD.  There are about 50 such patients with GNE Myopathy in Bulgaria.  Please refer to this link for the complete paper: http://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd150087

A Request for Patients of Indian Origin 
GNE Myopathy International is kindly asking patients of Indian origin to submit a copy of their GNE Myopathy mutations. This will help the group to get a better understanding of which mutations are more widespread in the Indian population. In addition, this information will help the group in their advocacy efforts within India to generate public concern and to lobby for more research towards finding and funding a cure.
Contact information: gne.myopathy@gmail.com
Website:  http://gne-myopathy.org/

Sialic Acid Phase 2 Trial
This article was published a while back. It discusses Sialic Acid, now known as aceneuramic acid Extended Release (Ace-ER) 
https://www.sciencedaily.com/releases/2016/02/160222144340.htm
The researchers state that "The findings suggest that initiating treatment earlier in the disease course may lead to better outcomes. It is our hope that the Phase 3 trial will result in the first therapeutic agent for this condition.” 1
1.  http://www.healthcanal.com/bones-muscles/70517-phase-2-clinical-trial-to-treat-rare-hereditary-muscle-disease-shows-promise.html
GNE Myopathy Newsletter by Treat NMD
This most recent edition contains topics on clinical trials, patients organizations, and the current ManNac trial at the National Institutes of Health.  Here is the link:

 https://www.gnemdmp.com/Portals/_default/Skins/Genesis/pdf/2016-apr.pdf 
https://www.gnem-dmp.com/Home/Newsletters

Images of Ultragenyx's 2016 Patients Day
Patients from all over the United States and from other countries attended this fun event. Again, this year the music was phenomenal, which got many attendees to keep dancing till the end. There were abounding quantities of delicious food that were just irresistible.  Along with many other rare disease patients, there were many patients from the GNE Myopathy group, some of whom came from as far away as Taiwan. 

 

Upcoming Events:
*July  5 -9:  There will be an International Congress of Neuromuscular Disease in Canada.  See specifics at:
http://icnmd2016.org/

*August 29th: There will be a  patients day hosted by the Neuromuscular Disease Foundation.   Please check the website for details once they are accepting applications for travel stipend.  http://ndf-hibm.org/

GNE Myopathy Support Groups
These groups are closed groups as the discussions within these groups are related to those who have our disease.  Please let me know if you need my help in setting up a group in your own language. 
Arabic Language Group:  https://www.facebook.com/groups/932711150182944/
EnglishLanguageGroup:  https://www.facebook.com/search/top/q=hibm%20%2F%20gne%20myopathy%20support%20group
Hebrew Language Group:https://www.facebook.com/groups/1544523909170865/
Italian Language Group:
 https://www.facebook.com/groups/associazione.gliequilibristi.hibm/
Japanese Language Groups: https://www.facebook.com/padmenigata/?fref=photo
http://npopadm.com/

Please sign this petition regarding a policy to save the children with rare diseases.   It is easy and simple.https://www.change.org/p/prime-minister-implement-rare-disease-policy-and-save-children-diagnosed-with-rare-diseases

Common Ground: A Rare Disease Patient Faces Similiar Physical Challenges As Those With GNE Myopathy

Note:There are over 7,000 rare diseases, some are very difficult to diagnose, and it could take decades to get the right diagnosis like me, and my friend Mark.  Although, he is placed in the Muscular Dystrophy category (sub-type unknown), Mark has similar physical challenges as those with GNE Myopathy.
Thank you Mark for giving us a small glimpse into your life.

Hi. My name is Mark and, like Tara, I have a form of muscular dystrophy. It's a slightly different type, but more about that in a minute.

The month I was born, January 1961, my dad was being diagnosed with muscular dystrophy. He was the first case ever in our family. I grew up watching him deteriorate over the years. It wasn't rapid but became bad enough by the time I was old enough to play baseball and other sports that my dad couldn't partake or play with me. At 14 years old I became his primary caregiver.

My dad never knew WHY his muscles were dissolving away. In the late 1960s he was told that an enzyme was suspected of eating the muscle tissue away. This was never verified of course because we now know that it's a genetic flaw; a tiny piece of missing DNA that happens to be an important step in a recipe that makes the protein that builds muscle.

My genetic flaw has not been determined. I belong to a group of muscular dystrophy patients referred to as "Subtype Unknown." Half a dozen genetic tests, looking at every known MD causing flaw have come back "normal" (negative). There are at least 40 confirmed and another 45-50 suspected flaws. This is extremely frustrating. Enter my friend Tara whom I met because of my relentless internet searching on undiagnosed muscular dystrophies. I learned that Tara spent many years in the same diagnostic limbo as I have been in for the past 14 years. She's been my inspiration to never give up the search!

My symptoms are very similar to Tara's. So I made certain to have my GNE gene looked at. A mutation in the GNE gene causes GNE Myopathy. For me the result was negative; no mutation in my GNE gene.

Like Tara I struggle physically but remain optimistic about my future. I keep busy helping and supporting others with MD and keep myself busy with my family and hobbies. I have a wonderful wife and two daughters who love and support me.

In September 2015 I was interviewed for Limb-Girdle Muscular Dystrophy Awareness Day. Both "the day" and the interview were designed to help unaffected people understand what it's like to live with this disease. I'd like to share a few of my responses here:

What are your greatest challenges living with MD?

Having to constantly ask for help. Watching my wife and daughters do the chores that I would enjoy doing, and that the man of the house usually does; yard work, repairs, etc. Watching my wife give up outings, restaurants, vacations, and so on. I can live without, but it’s not fair to her. I encourage her to do those things, but she misses going out as a couple as well. We do go out, but it’s not spontaneous and the outings are few and far between.

What are some of your greater accomplishments?

 Before the MD? The home and family I’ve established. And I’ve many close friends. In spite of the MD?  I’ve always had a “Bucket List” in my head of life goals. I have seen most of these materialize and come to pass. A few examples: Hire an architect and build our dream home (accessible as well). Read Les Miserables. Learn to solve a Rubik’s Cube. Take a train across the United States. See the Grand Canyon. There are dozens more, none of which were prevented because of my MD.

How has the MD influenced your life?

I am determined to identify my sub-type. I believe a genetic diagnosis will be critical in future treatments. I have created a Facebook group, “Muscular Dystrophy Subtype Unknown”, for MD patients who have been unable to achieve a genetic diagnosis.  https://www.facebook.com/groups/498452196969988/ I've over 200 members! I thought I'd get 25. The group is far more than venting and support. We share valuable resources and information with the goal that if one gets diagnosed, many others may benefit. This is my mission, my goal and my passion right now; to help as many of my fellow MD friends as possible and get myself and every one of them a diagnosis. I won’t give up on them even if I identify my own sub-type tomorrow.

What do you want the world to know about living with MD?

People with MD have the same hopes, dreams and fears as you. In our minds we run on the beach, walk barefoot in the grass, hike along a mountain stream. It takes a great strength of heart to not succumb to the imprisonment in our own bodies. Never take your body and legs for granted! Never take for granted getting up from a toilet, running an errand, hugging a loved one or holding a baby. Those abilities are a distant memory for me. But at the same time, our lives are SO MUCH MORE than healthy legs! Enjoy your family, a sunset, a good book, a thunderstorm, a bird in your backyard. Don’t be unhappy because your boss was crabby, you were stuck in traffic or your dinner got cold.

If you were cured tomorrow, what's the first thing you'd do?

I would thank God and the team of doctors and researchers that made it happen. Then I would hug everybody I love….hard and long. Then I would do a few of the things my wife and I love to do; dine out, travel, and walk in the sand holding hands.

Mark, you rock!  What a beautiful family!    

Reminders:

1.  I look forward to seeing some dear friends at the Patients Day:  http://events.r20.constantcontact.com/register/event?oeidk=a07ec2w5iro9f3fb126&llr=orxhodsab

2.  Clinical trials for Phase 3 Sialic Acid  is still recruiting:

 https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=7

3.  For Severe Ambulatory Patients the St. Louis, Missouri site is recruiting:  

https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2

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

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

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

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

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

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

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

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

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

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

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

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

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


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

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

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

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

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

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

An Indepth Report on Phase 2 study of Sialic Acid

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

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

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

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

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

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

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

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

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

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

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

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

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

Place of Event: Lyon, France

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

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

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

·       Prevalence of GNEM worldwide              

·       Patient Advocacy Support for GNEM

·       Current Resources for GNEM patients

·       Networking

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

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

Below is a sample of the registration form.

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

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

Friends,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

                             http://rareadvocates.org/rdw/

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

Registry for GNE Myopathy Patients:

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

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

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

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

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