05/21/2015:

 

الاسم:  Andrea                 العمر: 17 yrs. old

البلد: Norway

النوع الفرعي LGMD: LGMD 1B / Laminopathy

في أي عمر تم تشخيصك:

I was about 6 months old when they discovered that something was wrong, but it wasn’t until I was about 2 years old that they decided it was muscle dystrophy. I have probably had the disease my whole life. I was 7 years old when I got the diagnosis LGMD 1B.

ما هي أعراضك الأولى:

I couldn’t hold my head up when I started sitting on my own.

هل لديك أفراد آخرون من عائلتك مصابون بداء تضخم الغدد اللمفاوية الجنيني:

No, I am the only one with LGMD in my family. Both my parents have been tested and the results showed that I didn’t inherit it, it was from a mutation.

ما هي في رأيك أكبر التحديات التي تواجهك في التعايش مع داء الليثيوم المتعدد الكيسات؟:

The greatest challenges are that I can’t do anything on my own. I need help with practically everything, like getting dressed, getting in and out of bed, and picking up stuff.

ما هو أعظم إنجازاتك:

My greatest accomplishment is my mind. How I have a positive look on everything.

كيف أثرت عليك LGMD لتصبح الشخص الذي أنت عليه اليوم:

It has made me appreciate the small pleasures and made me a very positive person.

ما الذي تريد أن يعرفه العالم عن LGMD:

I want the world to know that I am not chained to my wheelchair, the wheelchair is the most helpful aid I have. Without it I would be chained, it is my freedom. When some people see me they only see the wheelchair, the noise around me, and not me. The disease only affects my muscles and not my brain, I am a normal 17-year-old girl.

إذا كان من الممكن "علاج" مرضك بالتهاب الغدد اللمفاوية الروماتيزمية غدًا، فما هو أول شيء تريد القيام به:

I would jump, run up and down the stairs, pick up things, do all the normal things I never have been able to do!