11/19/2015

Nombre:  Karen   AGE: 61 yrs. old

País: Estados Unidos

Subtipo LGMD: LGMD1B / Laminopathy

 

¿A qué edad le diagnosticaron:

I was diagnosed when I was 54 yrs. old.

¿Cuáles fueron sus primeros síntomas?:

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

¿Tiene otros familiares que padezcan 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.

¿Cuáles crees que son los mayores retos de vivir con 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.

¿Cuál es su mayor logro?:

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

¿Cómo le ha influido la LGMD para convertirse en la persona que es hoy?

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.

¿Qué quiere que el mundo sepa sobre la 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 su LGMD pudiera "curarse" mañana, ¿qué sería lo primero que desearía hacer?:

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

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