11/19/2015

Nom:  Karen   AGE: 61 yrs. old

Pays: États-Unis

LGMD Sous-type: LGMD1B / Laminopathy

 

À quel âge avez-vous été diagnostiqué ?:

I was diagnosed when I was 54 yrs. old.

Quels ont été vos premiers symptômes ?:

My first symptoms included:  falling, inability to climb stairs and difficulty lifting.

Avez-vous d'autres membres de votre famille atteints de LGMD ?

My sister, her son and his daughter,  her daughter, and a brother all have the same diagnosis.  There have been 2 that were also tested and do not have it.  LGMD1B has an autosomal dominant inheritance pattern which means that typically this disease appears in every generation without skips.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ?:

The greatest challenges for me include:  getting around, being able to get up when I sit, bathroom problems, lifting, being able to reach items, loading walker in car alone, walking, shopping, and getting dressed.

Quelle est votre plus grande réussite ?:

For me, my greatest accomplishments include raising my kids and working with school children for 18 years.

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?

It makes me more sympathetic to others and their issues.  I am feeling blessed to have family members around.  I  appreciate what I have left.

Que voulez-vous que le monde sache sur le LGMD ?

Not all disabilities are immediately visible. Some of us might not look like anything is wrong and yet people judge us. I get plenty of stares when I park in a handicap parking space. I get the look…until I have to get a cart to even walk.    I wish that more people knew how to help us –  when we fall, etc.

It is frustrating that a lot of people do not know and understand the difference between MD and MS.  I say I have MD and they still say MS.

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ?:

I would want to be able to hold as well as sit down and play with my granddaughter.

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