LGMD Spotlight interview – 09/02/2016

 

Nome:  Melanie  Età:  29 yrs. old

Paese:   Germany

Sottotipo LGMD :  LGMD2i (heterozygous type)

 

A che età è stata fatta la diagnosi:

I was diagnosed at the age of 4 by having a muscle biopsy.

Quali sono stati i primi sintomi:

I always fell when I tried to run and to take the stairs.  This resulted in many bruises and scars!  In addition, I couldn’t get up from the floor by myself.   These symptoms already showed up around the age of 2.

Avete altri familiari affetti da LGMD:

No, sono l'unica in famiglia con la LGMD.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la LGMD?:

The greatest challenge is to make people understand that I’m not too lazy to do everyday tasks but I am too weak to do them on my own.  Another challenge for many of us is accepting a wheelchair as your best friend!

Qual è il suo più grande risultato:

There are far too many accomplishments!  Living a good life with LGMD is an accomplishment in itself!  On my blog (www.littlemissturtle.com) I write about all of my accomplishments and adventures on wheels.

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

I grew up with LGMD.  It made me a very strong person.  Dealing with a progressive disease that causes muscle weakness and atrophy while being fully conscious  about it is a demanding challenge  I appreciate every day of my life!   I stopped working recently to have more time to do all the things I love.  LGMD taught me to take things the easy way.  Enjoy more, worry less, stay positive and spend as much time as possible with loved ones.  That’s my way!

Cosa volete che il mondo sappia della LGMD?:

LGMD is a rare and tricky disease.  It cannot be compared to any other disease like Multiple Sclerosis (MS), etc.  It is important to fully listen to a person who has LGMD when he or she asks for assistance – to avoid hurting him or her in the process.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

I would get up from the bed by myself, dress and then go for the walk of my life!  I would walk for as long as my feet would carry me.

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