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.