LGMD Spotlight interview – 09/02/2016

 

Nome:  Melanie  Idade:  29 yrs. old

País:   Germany

LGMD Sub-tipo :  LGMD2i (heterozygous type)

 

Com que idade foi diagnosticado:

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

Quais foram os seus primeiros sintomas:

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.

Tem outros familiares que sofrem de LGMD:

Não, sou a única pessoa da minha família com LGMD.

Quais são, na sua opinião, os maiores desafios de viver com a 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 é a sua maior realização:

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.

Como é que a LGMD o influenciou a tornar-se a pessoa que é hoje?

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!

O que quer que o mundo saiba sobre a 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 a sua LGMD pudesse ser "curada" amanhã, qual seria a primeira coisa que gostaria de fazer?:

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.

Para ler mais "LGMD Spotlight Interviews" ou para se voluntariar para ser apresentado numa próxima entrevista, visite o nosso site em: https://www.lgmd-info.org/spotlight-interviews