LGMD Sub-Type: LGMD2A – Calpainopathy
AT WHAT AGE WERE YOU DIAGNOSED:
I was initially diagnosed with LGMD at the age of 29 years old. Around my 34th birthday I received confirmation of my LGMD2A diagnosis.
WHAT WERE YOUR FIRST SYMPTOMS:
I had a stiff neck when walking and was having problems lifting objects up from the ground. My right arm could not bend. I was also experiencing fatigue.
DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
No, I am the only person in my family with this diagnosis.
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGE IN LIVING WITH LGMD:
I struggle to have enough energy to do the things that I want and need to do during the day. I try to plan my day in advance so I know what and how to use my energy during the day. Unexpected things or chores are sometimes a problem.
The long winters are also a challenge. In the winter I stay indoors as much as possible. I only go out when I really have to. My son understands this, but is it not always nice for him that we cannot play outside or spend more time outdoors in the winter. When there is frost or snow I stay indoor even more because I’m afraid to fall.
Because of the LGMD sometimes I seem to have a short temper…?
WHAT IS YOUR GREATEST ACCOMPLISHMENT:
One of my greatest accomplishments is that I moved from Holland to Denmark 15 years ago. I have a nice wife and son who is 7 years old (almost 8). I also have a job where I am able to work 20 hours a week. (Denmark is trying to help the disabled where they can.)
HOW HAS LGMD INFLUENCE YOU INTO BECOMING THE PERSON YOU ARE TODAY:
I am still able to walk, and my doctor told me that I will be able to do that forever J, but sometimes I’m a bit unstable and walking “strange”.
I have to plan my days, to plan my energy , if there is something different like an appointment I have to know it days in advance. Otherwise I take it as it comes, one day at the time.
WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
I want the world to know that the disease Limb Girdle Muscular Dystrophy (LGMD) exists and that it is a rare disease. The form of LGMD that I have – LGMD type 2A – is quite rare! In Denmark it is estimated that only 6% of LGMD patients are diagnosed with LGMD2A.
IF YOUR LGMD COULD BE”CURED” TOMORROW, WHAT YOULD BE THE FIRST THNG THAT YOU WOULD WANT TO DO:
Running! It has been many years ago since I have been able to run or since I was stable in my walking.