05/15/2015

名称：  Marjolein  

Age: 27 yrs. old

国家：   荷兰

LGMD 子类型：   LGMD1B / Laminopathy

 

您在几岁时被确诊:

I was diagnosed at the age of 4 with LGMD but the sub-type was unknown.  At the age of 23 I had a DNA test done which was relatively new in Holland, and that is when they found out that I had LGMD type 1B.

您最初的症状是什么？:

My mother noticed that I had trouble climbing the stairs.  My sister is 1 year and 9 months younger and she could already climb stairs but I still had to use my arms to help me climb the stairs.  I was also born with heterochromia iridum (two colored eyes (with one blind eye)) and a palato cisis (an opening in the palate) so my parents figured I had something more.

您是否有其他家庭成员患有 LGMD：

No, I am the only one so far.  We looked in to our history but couldn’t find anything that said that others in the family had LGMD.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The greatest challenge is having to accept all of the losses regarding the physical things that I cannot do anymore.  Sometimes it goes so that my head can’t keep up.

您最大的成就是什么？:

My greatest accomplishments are finishing college, finding my soulmate and buying a house together.

LGMD 是如何影响您成为今天的自己的？

I don’t really know because I don’t know how it is to not have LGMD.  I do have a lot of patience.  Maybe that is because of all the waiting we have to do to get the things we need to function in our lives….you know, things like wheelchairs and other stuff.

您希望世界了解 LGMD 的哪些方面？:

LGMD is a very frustrating disease.  People living with LGMD deal with losses day in and day out.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

If I could be cured tomorrow, I would dance with my boyfriend in a club all night!  And, I would go on a hiking vacation.