05/15/2015

Name:  Marjolein  

Age: 27 yrs. old

Country:   The Netherlands

LGMD Sub-Type:   LGMD1B / Laminopathy

 

At what age were you diagnosed:

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.

What were your first symptoms:

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.

Do you have other family members who have 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.

What do you find to be the greatest challenges in living with LGMD:

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.

What is your greatest accomplishment:

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

How has LGMD influenced you into becoming the person you are today:

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.

What do you want the world to know about LGMD:

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

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

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.