On the Journey to Strength
and Movement
Sofi is our little curious girl with a rare genetic syndrome. Rehabilitation and exercise move her forward.
Joy and anticipation were replaced by uncertainty, fear, and finally a diagnosis. Congenital Myasthenic Syndrome - rare VAMP1 variant. Sofi is the 10th documented case in the world out of 14 1 .
The most common manifestation is hypotonia and overall muscle weakness , which was visible in Sofinka's first days after birth.
Other manifestations include sucking and swallowing disorders, bulbar muscle weakness, and breathing difficulties. Life with CMS includes:
- PEG insertion in most patients due to insufficient food intake or inability to swallow
- use of non-invasive pulmonary ventilation and cough assist in most patients
- need for constant exercise and rehabilitation
- inability to walk independently
Sofinka, you are a great warrior!
We believe that thanks to your tremendous effort and with the help of skilled physiotherapists, you will grow stronger to be as independent as possible.
How to help
2% of the tax or
voluntary donation
to Sofia's civic association account
for every contribution!
@fiha__sofia 
