LGMD “SPOTLIGHT INTERVIEW’

 

NAME:  Anamaria    AGE:  25 years old

COUNTRY:  Romania

LGMD Sub-type:  LGMD2A / Calpainopathy

 

At what age were you diagnosed:

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

What were your first symptoms:

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.

Do you have other family members who have LGMD: 

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

What do you find to be the greatest challenges in living with 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 …

What is your greatest accomplishment:

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

How has LGMD influenced you into becoming the person you are today:  

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…

What do you want the world to know about 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 …

If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:

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

 

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