11/19/2015

İsim:  Karen   AGE: 61 yrs. old

Ülke: Birleşik Devletler

LGMD Alt Tipi: LGMD1B / Laminopathy

 

Kaç yaşında teşhis konuldu?:

I was diagnosed when I was 54 yrs. old.

İlk belirtileriniz neydi?:

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

LGMD hastası olan başka aile üyeleriniz var mı?

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.

LGMD ile yaşamanın en büyük zorluklarının ne olduğunu düşünüyorsunuz?:

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.

En büyük başarınız nedir?:

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

LGMD bugün olduğunuz kişi olmanızda sizi nasıl etkiledi?

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.

Dünyanın LGMD hakkında ne bilmesini istersiniz?

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.

LGMD hastalığınız yarın "tedavi edilebilseydi", yapmak isteyeceğiniz ilk şey ne olurdu?:

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

Daha fazla "LGMD Spotlight Röportajı" okumak veya gelecek bir röportajda yer almak için gönüllü olmak için lütfen web sitemizi ziyaret edin: https://www.lgmd-info.org/spotlight-interviews