11/19/2015

Nazwa:  Karen   AGE: 61 yrs. old

Kraj: Stany Zjednoczone

Podtyp LGMD: LGMD1B / Laminopathy

 

W jakim wieku zostałeś zdiagnozowany?:

I was diagnosed when I was 54 yrs. old.

Jakie były pierwsze objawy?:

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

Czy masz innych członków rodziny cierpiących na 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.

Co uważasz za największe wyzwanie w życiu z 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.

Jakie jest twoje największe osiągnięcie?:

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

Jak LGMD wpłynęło na to, że stałeś się osobą, którą jesteś dzisiaj:

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.

Co chciałbyś, aby świat dowiedział się o 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.

Gdyby jutro można było "wyleczyć" chorobę LGMD, co byłoby pierwszą rzeczą, którą chciałbyś zrobić?:

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

Aby przeczytać więcej wywiadów "LGMD Spotlight Interviews" lub zgłosić się do udziału w nadchodzącym wywiadzie, odwiedź naszą stronę internetową: https://www.lgmd-info.org/spotlight-interviews.