LGMD “SPOTLIGHT INTERVIEW’

 

NAZWA:  Anamaria    WIEK:  25 years old

KRAJ:  Romania

Podtyp LGMD: LGMD2A / kalpainopatia

 

W jakim wieku zostałeś zdiagnozowany?:

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

Jakie były pierwsze objawy?:

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.

Czy masz innych członków rodziny cierpiących na LGMD? 

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

Co uważasz za największe wyzwanie w życiu z 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 …

Jakie jest twoje największe osiągnięcie?:

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

Jak LGMD wpłynęło na to, że stałeś się osobą, którą jesteś dzisiaj:  

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…

Co chciałbyś, aby świat dowiedział się o 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 …

Gdyby jutro można było "wyleczyć" chorobę LGMD, co byłoby pierwszą rzeczą, którą chciałbyś zrobić?:

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

 

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