11/19/2015

Nome:  Karen   AGE: 61 yrs. old

Paese: Stati Uniti

Sottotipo LGMD: LGMD1B / Laminopathy

 

A che età è stata fatta la diagnosi:

I was diagnosed when I was 54 yrs. old.

Quali sono stati i primi sintomi:

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

Avete altri familiari affetti da 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.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la 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.

Qual è il suo più grande risultato:

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

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

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.

Cosa volete che il mondo sappia della 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.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

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

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