名称:         Lena              年龄:  44

国家: 美国

LGMD 子类型:  Limb-Girdle Muscular Dystrophy type 2J/R10 Titan-related

您在几岁时被确诊?

I was diagnosed at age 42.

您最初的症状是什么？

As a preschool teacher, I noticed that it was becoming very difficult to get up from the floor. Then I started falling and losing my balance.

您有其他家庭成员患有 LGMD 吗？

My sister and I both have been diagnosed with LGMD subtype 2J, we also think that our father and all our uncles could have had it. (They are all deceased and were never diagnosed.)

您认为 LGMD 患者在生活中面临的最大挑战是什么？?

Not being able to do all the physical activities that I want to do. The uncertainty of the future and if my children will develop LGMD as well. Another challenge I deal with is coping emotionally with the gradual weakening of my legs and limbs.

您最大的成就是什么？

I am proud of being a mother and a wife. I am also proud of being active in a community social group, participating with “Rock The Vote”, and learning how to use social media to meet people all over the world.

LGMD 是如何影响您成为今天的自己的？

I am more of an advocate for my health. I am more empowered to ask questions and take actions that help me and others that maybe otherwise would be ignored or overlooked.

您希望世界了解 LGMD 的哪些方面？?

You can still love, laugh, and live a meaningful life with LGMD. The physical limitations of our bodies do not stop us from continuing to learn and experience the world.

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want do?

If I could be cured tomorrow, I would drive to the beach and wiggle my toes in the ocean!!!