LGMD "Entrevista em destaque"

NAME: Jill AGE: 42
PAÍS: EUA
LGMD Sub-tipo: autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA mutation/LGMD1B)

COM QUE IDADE FOI DIAGNOSTICADO:
I was diagnosed when I was 4 years old.

QUAIS FORAM OS SEUS PRIMEIROS SINTOMAS:
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.

TEM OUTROS FAMILIARES QUE SOFREM DE LGMD:
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.

QUAIS SÃO, NA SUA OPINIÃO, OS MAIORES DESAFIOS DE VIVER COM LGMD:
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.

QUAL É A SUA MAIOR REALIZAÇÃO:
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.

COMO É QUE A LGMD O INFLUENCIOU A TORNAR-SE A PESSOA QUE É HOJE?
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.

O QUE É QUE QUER QUE O MUNDO SAIBA SOBRE A LGMD:
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.

SE A SUA LGMD PUDESSE SER "CURADA" AMANHÃ, QUAL SERIA A PRIMEIRA COISA QUE GOSTARIA DE FAZER:
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.

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