Miruna (2024)

CACNA1E c.2104G>A p.Ala702Thr

 

 

The first time we felt that something was wrong was at 6 months of pregnancy, my wife told me that she felt the little girl stiff in the womb, at birth she was born with her hands turned inward and crossed on the chest area, the first diagnosis she had was of bilateral brachial plexus paresis, for 3 months I did kineto, exercise but did not see any improvements, we also managed to do the genetic test on the recommendation of a neurologist where we received the diagnosis of CACNA1E c2140G >A, p. (Ala 720Thr).

 

Our little girl is a fighter, even if she can't move, she's hypotonic, sometimes spastic, when she wants something she becomes a strong fighter, we love her very much and I say it with all my heart, she's an angel come to earth to show us what is love without expecting something in return. ❤️🙏