05/15/2015

Nombre:  Marjolein  

Age: 27 yrs. old

País:   Países Bajos

Subtipo LGMD:   LGMD1B / Laminopathy

 

¿A qué edad le diagnosticaron:

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.

¿Cuáles fueron sus primeros síntomas?:

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.

¿Tiene otros familiares que padezcan 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.

¿Cuáles crees que son los mayores retos de vivir con 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.

¿Cuál es su mayor logro?:

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

¿Cómo le ha influido la LGMD para convertirse en la persona que es hoy?

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.

¿Qué quiere que el mundo sepa sobre la LGMD?:

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

Si su LGMD pudiera "curarse" mañana, ¿qué sería lo primero que desearía hacer?:

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.