05/15/2015

이름:  Marjolein  

Age: 27 yrs. old

국가:   네덜란드

LGMD 하위 유형:   LGMD1B / Laminopathy

 

몇 살에 진단받으셨나요?:

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.

첫 증상은 무엇이었나요?:

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.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

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.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요?:

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.

가장 큰 성과는 무엇인가요?:

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

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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.

LGMD에 대해 전 세계에 알리고 싶은 내용:

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

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요?:

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.