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I was born in 1984, and now I live with my husband and two daughters in Moravia (part of the Czech Republic. I was diagnosed with a genetic examination (in 2019) confirmed a pathogenic sequence variant in the CAPN3 cDNA gene c.1322deIG, protein p. (Gly441Valfs * 22) in a heterozygous state. Said sequence variant was detected using targeted massive parallel sequencing and verified by classical sequence analysis. According to OMIM (253600), pathogenic sequence variants in the CAPN3 gene are associated with muscular dystrophy LGMD 2A.
The first symptoms of my disability began around the age of 9. The first manifestation was walking on tiptoe, problems walking upstairs, getting up from squats, hyperlordosis.
In 1998 (14 years old), I underwent surgery on the Achilles tendons – the operation improved my stability when walking.
I have been using a wheelchair since 2004 (at the age of 20). Initially, I used it only for longer distances. The condition still progressed, and after the following events: 2012 – cesarean section of the 1st daughter; 2013 – femoral neck fracture; 2016 – cesarean section of the 2nd daughter, in 2013, I sat in a wheelchair.
Now I am not even able to stay and walk. The situation is complicated by severe lower limb lymphedema. As for the momentum of the upper limbs, with the support of the elbow on the table, I can perform individual tasks (combing, drinking, typing on the keyboard, etc.)
I graduated in speech therapy at Palacký University in Olomouc. I now work as an assistant professor and researcher at the Institute of Special Education Studies, Faculty of Education, Palacký University in Olomouc. My disability influenced my choice of study and subsequent work. The hardest part was perceiving my disability from a progressive perspective and thinking about what I would be physically capable of in a few years.
My whole day is specific – from waking up to going to bed. Unfortunately, my condition has worsened so much that I require almost all-day care. My husband is massive support at home. In addition to his job responsibilities, he also took care of the kitchen and household. He helps me with basically everything – hygiene, dressing. I need to turn at night, position … there is a lot. Still, at the same time, I dare say that we are in tandem. I believe that despite my many health limitations, I bring many things to our relationship that enrich us. I am happy that we also managed to find an assistant for occasional help in the household who is willing to pick up children from kindergarten or school if necessary.
Last but not least, it is friends/colleagues from the faculty who help me here. We are already beautifully coordinated with a lot of them. They can help me in my regular work operation, with help to classrooms, in the car, etc.
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