LGMD “SPOTLIGHT INTERVIEW’

 

NOM:  Anamaria    AGE:  25 years old

PAYS:  Romania

LGMD Sous-type: LGMD2A / Calpaïnopathie

 

À quel âge avez-vous été diagnostiqué ?:

I was diagnosed this year by the genetic testing of  ”whole exome sequencing”.

Quels ont été vos premiers symptômes ?:

The first symptoms occurred around the age of 23 when I had vertigo, and all the doctors guided me to check my inner ear. It is worth mentioning that I did the clinical test with the neurologist, but at that time I had no problem. Over time I began to climb stairs hard, to get up awkward from the floor or from the chair…Doctors have failed to diagnose me, even after a muscle biopsy. They told me I had muscular dystrophy and I had to do other genetic tests, but they did not know what tests (Pompe disease and Duchenne / Becker were negative). So I started looking for information and sent my analyzes to Germany.  Only Centogen answer and they sent me to a geneticist.

Avez-vous d'autres membres de votre famille atteints de LGMD ? 

No, I am the only person in my family diagnosed with LGMD2A.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ?:

It is very difficult that at the age of 25,  the biggest challenge is to think that you could climb up stairs by yourself. I am from Romania and although it is a country in the European Union, it is a poor country and we do not have conditions for those with problems and when people see me climb stairs differently they look at me suspiciously, sometimes they are asked why I climb like this… Another challenge would be that when I fall, I cannot pick myself up. It’s hard to always depend on someone …

Quelle est votre plus grande réussite ?:

That I wake up in the morning and can breathe and walk.

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?  

I read all the interviews of those who have the same illness as I and I noticed that everyone thinks they got a better version of they, but with me, I  think it was the other way around. I became a person with many fears.  As an example,  I’m even afraid of the stairs from the train, because they are very high…

Que voulez-vous que le monde sache sur le LGMD ?:

For starters, I want the world to know about Romania and the fact that it is very difficult for us to have a diagnosis. We are a poor country. Do you know the minimum salary in our country? 266 euro. Do you know how much I pay just for the genetic test? 1.660 euro … My research suggests that there are many people with muscular dystrophy in Romania but they cannot afford to go to a doctor and especially to do genetic tests. I would like those who work in the clinical trials to stop saying that they do not work with people from Romania …

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ?:

I would definitely run and then try to help as many people as possible to have access to treatment.

 

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