OSOBA Z LGMD: Anamaria
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.
*** Prosimy o LIKE, COMMENT i SHARE tego postu, aby pomóc zwiększyć świadomość na temat LGMD!
*** Aby przeczytać więcej wywiadów "LGMD Spotlight Interviews" lub zgłosić się do udziału w nadchodzącym wywiadzie, odwiedź naszą stronę internetową pod adresem https://www.lgmd-info.org/spotlight-interviews