INDIVIDUAL WITH LGMD: Freddy
04/14/2015
NAME: Freddy AGE: 49 Yrs. Old
LAND: Denmark
LGMD Unter-Typ: LGMD2A - Kalpainopathie
IN WELCHEM ALTER WURDEN SIE DIAGNOSTIZIERT?:
I was initially diagnosed with LGMD at the age of 29 years old. Around my 34th birthday I received confirmation of my LGMD2A diagnosis.
WAS WAREN IHRE ERSTEN SYMPTOME?
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.
HABEN SIE ANDERE FAMILIENMITGLIEDER, DIE AN LGMD LEIDEN:
No, I am the only person in my family with this diagnosis.
WAS IST IHRER MEINUNG NACH DIE GRÖSSTE HERAUSFORDERUNG IM LEBEN MIT 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…?
WAS IST IHRE GRÖSSTE ERRUNGENSCHAFT?:
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.)
WIE HAT LGMD SIE ZU DER PERSON GEMACHT, DIE SIE HEUTE SIND:
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.
WAS SOLL DIE WELT ÜBER LGMD WISSEN?:
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.
WENN IHRE LGMD MORGEN "GEHEILT" WERDEN KÖNNTE, WAS WÜRDEN SIE ALS ERSTES TUN WOLLEN?:
Running! It has been many years ago since I have been able to run or since I was stable in my walking.
