Tara Talks GNE Myopathy: 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.