07/26/2016 – LGMD "Spotlight Interview"

ИМЯ:  Maram    ВОЗРАСТ: 26 years old

СТРАНА: Palestine

LGMD Подтип: LGMD2E

 

В каком возрасте вам был поставлен диагноз:

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.

Каковы были ваши первые симптомы:

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.

Есть ли у вас другие члены семьи, страдающие LGMD:

Нет, я единственный в своей семье.

Что, по вашему мнению, является наибольшей проблемой в жизни с 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.

Какое ваше самое большое достижение:

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.

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:

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.

Что вы хотите, чтобы мир узнал о 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.

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

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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