LGMD "스포트라이트 인터뷰"

이름:    Jade

나이:  20 years old

국가: 미국

LGMD 하위 유형:  LGMD 2A/R1 calpain 3-related

몇 살에 진단받으셨나요??

I was officially diagnosed in March 2021, so this is all still new to me.

첫 증상은 어떤 것이었나요?

The first time I noticed symptoms, I thought I was just dehydrated.  I felt weak, my legs like jello, and pain in my hips.  Now that I am aware of my diagnosis, I can look back and see symptoms from as early as the age of 12.  I played softball and couldn’t make my legs run fast no matter how hard I tried.  I also have always had abnormally large calves, but I now know that can happen due to the lack of muscle strength in your quads.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

No, I am the only person in my family with LGMD2A/R1.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요??

Stairs hold me back from a lot.  I can still tackle stairs, but it takes so much effort and energy.  It is not worth it.  I’m also having to learn to adjust my daily life such as, having a chair to sit and rest when cooking, sitting on the floor to hold children instead of picking them up, and limiting the number of things I do in a day.  The biggest hurdle that I’ve experienced is the mental hump regarding my power chair.  I know that I need to use it but there is a mental barrier that hasn’t accepted my diagnosis yet.

가장 큰 성과는 무엇인가요?

My relationships and still having a positive outlook on life.  I completed high school, but I went through the trouble of diagnosis after, so haven’t made it to college yet but that is a goal of mine.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

It’s given me the ability to be more self-aware and to self-educate.  I’m more in touch with my body now, I can tell if I’m in rhabdomyolysis, if I am getting work down, or if I just need to take a rest.  Due to the lack of research for LGMD, it is a lot of self-education and advocacy.  I live in a semi-rural community, so no doctor had any clue on what to do for me or what I had.  It’s now to a point where I can call my PCP, tell them what is going on, and they will treat me accordingly.

LGMD에 대해 전 세계에 알리고 싶은 내용?

LGMD doesn’t look the same in everyone.  Not everyone will be ambulatory and not everyone will be in a wheelchair.  Just the same as not everyone got an early diagnosis, and some people never get one) though it is easier now).  Not everyone will take the diagnosis well and move forward confidently, and not everyone will spiral out due to the diagnosis.  Don’t ever assume you know what someone is going through physically and mentally.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요??

The first things I would like to do is go on an adventurous vacation/road trip.  It is not practical for me now but I always want to go to the Grand Canyon, Yosemite, the tallest point of the Appalachian Mountains, and the Hawaii volcanoes.