LGMD “SPOTLIGHT INTERVIEW’

 

姓名:  Anamaria    年龄:  25 years old

国家:  Romania

LGMD 亚型: LGMD2A / Calpainopathy

 

您在几岁时被确诊:

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

您最初的症状是什么？:

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.

您是否有其他家庭成员患有 LGMD： 

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

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

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 …

您最大的成就是什么？:

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

LGMD 是如何影响您成为今天的自己的？  

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…

您希望世界了解 LGMD 的哪些方面？:

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 …

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

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

 

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