LGMD "스포트라이트 인터뷰"

NAME: Jill AGE: 42
국가: 미국
LGMD 하위 유형: autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA mutation/LGMD1B)

몇 살에 진단을 받았습니까?:
I was diagnosed when I was 4 years old.

첫 증상은 무엇이었나요?
I was slight at birth, and my aunts both recall thinking there was not enough fat and muscles on my bottom and legs. My early milestones were unremarkable; I was able to sit, crawl, walk, etc. at appropriate ages. As I entered pre-school, it was noted that I fell much more often than the other children, and I had difficulty keeping up with others. I remember having great difficulty remaining upright in a “bouncy house” at a carnival, and also I didn’t enjoy bumper cars because I had difficulty with neck weakness.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?
My father and two brothers and one sister all have EDMD, but with a wide variety in severity. One sister is unaffected. It is suspected that my paternal grandmother and great-grandmother also inherited this disorder, but it was so mild they never knew this in their lifetime.

LGMD와 함께 생활하면서 가장 큰 어려움은 무엇이라고 생각하나요?
I get frustrated because I want to do the things someone my age should be able to do without significant difficulty. For example, keeping up with housework is very challenging, and I don’t end up with the house looking the way I imagine it should after working hard.

가장 큰 성과는 무엇인가요?
My greatest accomplishment was uncovering my own diagnosis as a teenager and informing my father’s cardiologist that our genetic disorder required implantation of a pacemaker. Perhaps this saved his life when he was only 44 years of age. It gave us the chance to love him for another 18 years.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?
It made me learn to rely on myself rather than looking to others to solve my problems. I learned quite early in life that if you have a very rare medical condition, you are going to have to become your own advocate. Also, having a muscle disease made me very dedicated to academic pursuits. I studied genetics as an undergraduate, and creative writing in graduate school. Without my achievements in higher education, I might struggle with uncovering my purpose in life.

세상이 LGMD에 대해 알았으면 하는 것은 무엇인가요?
In terms of what I would want people to know about Emery-Dreifuss MD (EDMD), probably I would want people to know I’m just the same as any other person on the inside. I feel the same hurts, have the same dreams, and most of all, just want to be included in all there is to experience in life. I have been happily married for nearly 12 years, and I’ve raised a son to the age of 11, and most of all I would want people to understand that these life goals can be met by a person even if they are unable to walk.

내일 LGMD가 '완치'될 수 있다면 가장 먼저 하고 싶은 일은 무엇일까요?
I would want to advocate for EDMD to be included in the genetic testing offered to newborns. My greatest wish is that I don’t want a future generation to go through the difficulties I went through, and the best time to intervene is at birth.

더 많은 'LGMD 스포트라이트 인터뷰'를 읽거나 다음 인터뷰에 출연을 신청하려면 다음 웹사이트를 방문하세요: https://www.lgmd-info.org/spotlight-interviews