LGMD "焦点访谈"

名称:  Kourtney                年龄: 23 yrs. old

国家:美国

LGMD 子类型:    LGMD2B /  Miyoshi Myopathy

您在几岁时被确诊:

I was diagnosed at the age of 14.

您最初的症状是什么？:

The very first symptom I noticed was that my calf muscles began to swell up uncontrollably after a huge dance performance. I couldn’t see my ankles after a while and we started to worry. The doctor told us to measure my calves’ daily and to keep a log. They kept getting bigger and bigger. The doctors thought it could be because of a blood clot, so they did lots of ultrasounds on my legs, heart, and stomach to see if there was anything wrong. They couldn’t find anything wrong. I then got my blood tested and they saw my CK levels were high, so they decided to do a muscle biopsy, and that’s how they diagnosed me.

您是否有其他家庭成员患有 LGMD：

Yes. My older sister, Stephanie Garrett, has the same type as me. She was diagnosed just a few months before I was. She seems to have more problems in her arms (2B) and I seem to have more problems with my legs (MM).

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

I think the greatest challenge living with MD is coping with the idea that you can’t do something that you used to be able to do. There are a lot of things that are hard to do physically, such as dance, climb, walk, etc. that I used to be able to do just fine. The hard part is being okay with it. I think MD is more emotionally challenging than physically challenging. But, you just have to stay positive and think of all the amazing things that you still can do.

您最大的成就是什么？:

This is a hard question because I feel like I have accomplished a lot in my life. I graduated high school, then college, I have two jobs that I absolutely love, I got married to my high school sweetheart, but most importantly, I became a mom. I have always looked forward to becoming a mom ever since I was little. Once I was diagnosed with LGMD, I didn’t know if it was possible or not. As I got older and my body started getting weaker, I questioned things. I have had so many fears about what harm I could possibly put on my family because of my physical situation. But, my friends and family have been nothing but supportive, loving, and helpful.  My greatest accomplishment is my baby girl. I have found so many ways to make things work so that she is happy, healthy, and safe. I know that the future is going to be hard with kids, but it will be more than worth it.

LGMD 是如何影响您成为今天的自己的？

Even though LGMD has definitely made me weaker physically, it has more importantly made me stronger emotionally and spiritually. I would never wish anybody to have this disease, however, I do think that it has been a blessing in my life. I am grateful that I have it, that I can teach others about it, and that I can be an influence and example to others.

您希望世界了解 LGMD 的哪些方面？:

I want the world to know that we are normal people, that we have feelings, and that there are things you should be careful about doing or saying. Please don’t stare, please don’t tell me I walk funny, please don’t laugh if I fall, and please don’t judge me based on the things I can and can’t do. Please don’t make handicap jokes. Please don’t assume I can do something. Instead, please help me, lift me up, and encourage me. Please make me feel loved and important. And please love me the same as if I was physically fine.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

If I could be cured tomorrow, the first thing that I would do is dance. Dancing was my heart, my soul, and my passion, and I miss it more than anything.

 

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