07/26/2016 – Intervista a riflettori accesi sulla LGMD

NOME:  Maram    ETÀ: 26 years old

PAESE: Palestine

Sottotipo LGMD: LGMD2E

 

A che età è stata fatta la diagnosi:

I was diagnosed with muscular dystrophy at the age of 10.  When I was 26 years old, I received genetic confirmation of my LGMD2E diagnosis.

Quali sono stati i primi sintomi:

When I was 3 years old, my parents noticed that my gait was unsteady and it was difficult for me to stand up from the ground.

Avete altri familiari affetti da LGMD:

No, sono l'unico della mia famiglia.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la LGMD?:

There are so many challenges.  Simple things for many people are my greatest challenges but going to the bathroom and changing my position from side to side while sleeping make me feel so weak.

Qual è il suo più grande risultato:

Well, in my country people know nothing about LGMD.  I am trying every day to increase the awareness of the disease by social media.  I have helped many patients in my country and in the Arab world to the genetic test to confirm their diagnosis and to get the equipment that we need to make life a little easier for us.  I have also contacted my patients from around the world and we have become close friends.  They are my greatest accomplishments.

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

I think it has made me stronger in one way or another.  I have become more caring for the people around me. I appreciate every little blessing in my life including my great family.  I have become closer to God.  I think it changed me in a good way and I like who I am today.

Cosa volete che il mondo sappia della LGMD?:

I want them to know that we are not so different form normal people.   What happened that a simple genetic error or mutation has caused me difficulty in moving while they can.  The cause is not so complicated and if we understand that, we can find the treatment.

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

I would like to hug my parents so tightly and never let them go.  I keep thinking how hard life would be without them.

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