Дисферлинопатия / Миопатия Миоши

12 февр. 2020 г.

Кем: Adiya

Год постановки диагноза: 2013


My name is Adiya. I'm from Kazakhstan. I was born in 1993.
When I was 20, I went to the swiming pool 2 times a week and to a dance 3 times a week. One day (in april 2013), I realized that I was limping on the left leg (it became weak) and I coudn't stand on tiptoe on the left leg. So that, I coudn't wear shoes with hills. I noticed that I fell worse after sport.
Next, I decided to give up dancing. I didn't go to physical education at university. After that my left leg recovered, I could stand on tiptoe on the left leg and wore hills again. But, after some sport (running, skating) my leg became weak. But if I relaxed about week, my leg had recovered.
I had been at the doctor. He said I shoud give more load to legs, I should training. But, I didn't agree with him, because I was getting worse after some sport.
So, that I decided no load for my legs. Everithing was Ok until 2016. One day I and my colleagues went rollerblading. Next day, I started limped on the left leg again and no stopped. Later, my right leg started to became weak without any sport.
I was at a lot of different doctors, but no one coudn't help me. They didn't see any not normal. Someone said that I just tired, another said that it because I shouldn't do enough sport, others even said that I was pretending.
In December my sister told me about one good doctor. Of cource, I came to that doctor. He diagnosed me muscular dystrophy. I was in shock.
I read a lot of information about this diagnose on Internet. I understood that there are many kinds of muscular dystrophy and I have to know what kind I have. I started to look for a place where I could do genetic test. Unfortunatly, at that time there isn't such place in Kazakhstan. The nearest place was Moskow.
So, in april 2017 I went to Moskow and did genetic test. In conсlution it is writing that I have two mutation in gene DYSF. My parents also did the genetic test. They have by one mutation, so that they are carriers of the disease.

Nowadays, I'm still working, I my physical condition is good. Of cource, I can't running, skiing, skating, go for a long distance, I'm really fast getting tired, it's hard for me to climb stairs, but it's Ok. I know that many with this diagnosis cannot walk at all. I learned going out earlier to not to be in a hurry. I learned to go leisurely. And now everywhere I'm going alone, because if someone with me I don't have time to follow him/her. And I'm getting sad. So, that I prefer to go somewhere alone.

Thank you for attention.
I'm sorry if I have mistakes. I have just been learning English. I hope, after some time I will know English very good.

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