COUNTRY: United States
LGMD Sub-Type: LGMD2B: dysferlinopathy/Miyoshi Myopathy
At what age were you diagnosed:
I started presenting symptoms when I was 17 and at the time I was told I was suffering from Guillain-Barre. When I was 19, my initial symptoms returned and worsened, however, this time I was diagnosed with polymyositis. After 3 years in and out of the hospital I was finally properly diagnosed via DNA testing with Miyoshi Myopathy and the age of 22.
What were your first symptoms:
My first symptoms were difficultly walking up stairs and getting out of chairs. I noticed a significant decrease in athletic activity at around age 15 but chalked it up to teenage laziness. It wasn’t until I was a junior in High School and could not complete my P.E. requirement and started falling frequently that I knew there was a problem.
Do you have other family members who have LGMD:
I have no other family members who are affected by LGMD.
What do you find to be the greatest challenges in living with LGMD:
Some of the greatest challenges are watching friends and family participate in physical activities such as running, hiking, daily exercise, and even dancing. It makes me sad that I cannot participate with them and sometimes I feel like I am missing out on quality time. Another perhaps harder struggle is the daily struggle, it takes much more effort to get ready each morning and also to accomplish daily tasks that many take for granted such as picking up your room, cleaning your house, laundry etc. I have had to learn to set my pride aside and rely on friends and family more, which in and of itself is a challenge.
What is your greatest accomplishment:
I think that my greatest accomplishment to date is that in-spite of being in and out of the hospital during my college years, I kept working and finally received a degree. Now, I put that degree to use everyday as a teacher. Teaching was always my dream and I achieved it. My students and colleagues are more that supportive and it makes it worth it every single day.
How has LGMD influenced you into becoming the person you are today:
LGMD has made me a more purposeful person. Purposeful with my own life, but also purposeful with who I surround myself with. When you live with a condition that affects your everyday life it is important to surround yourself with people and also activities that have meaning and fulfill your life, and not to waste time on anything petty and insubstantial. I am not sure that I would have realized this as early as I did if not for what I experience every day.
What do you want the world to know about LGMD:
Well, first of all I want everyone to stop thinking I have some strange form of MS. I also want everyone to know that we as a community are valuable and have a lot to offer. Our bodies may not cooperate with us, but we are a very bright and passionate community. Also, I would just like the world to know that LGMD exists, but I think we are making great strides in that area.
If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:
There is so much that I would like to do and obviously most of them have to do with physical abilities that I don’t possess. I would love to hike the Appalachian Trail, or anything else that involves being outside for extended periods of time. O, and I would also love to jump again, there is something freeing about that.
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