10/02/2015

İsim:       Mark          Yaş:      54

Ülke:          United States

LGMD Alt Tipi (if known):      Unknown

 

Kaç yaşında teşhis konuldu?:

Age 41. The day was January 28, 2002

İlk belirtileriniz neydi?:

Difficulty climbing ladders and stairs. Also difficulty rising from the floor or a low chair or sofa. But I was always slow as a child. I could not quite keep up with my friends or schoolmates.

LGMD hastası olan başka aile üyeleriniz var mı?

 My father had an unknown sub-type of LGMD. He was the first, and only other, patient in our family. His parents and grandparents seemed to be unaffected. My symptoms parallel his almost exactly. I was his caregiver from the age of 14 to about 25.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

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.

En büyük başarınız nedir?:

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 LGMD.

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi? 

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. 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 LGMD 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.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

People with LGMD 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.

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

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.

 

Daha fazla "LGMD Spotlight Röportajı" okumak veya gelecek bir röportajda yer almak için gönüllü olmak için lütfen web sitemizi ziyaret edin: https://www.lgmd-info.org/spotlight-interviews