Updated: January 2, 2025
This is a story about little princess Karina, who loves unicorns very much and wants to put on a ballet tutu and dance in a troupe one day!
Born: 2021
First symptoms: Age 3
- Needed help getting up from the potty on her own
Karina’s mother began to suspect for the first time that something was wrong.
- For two months, Karina was tested for every disease possible
- No one understood what Karina was sick with
- In a month’s time, the disease progressed very quickly
- Trouble getting up
- Two months later, stopped walking with confidence
- Three months later, needed to hold a hand to walk
- Six months later, Karina could no longer walk even while holding a hand
- Began to have problems with epilepsy when she often threw her head back
Testing continued, but the family realized that no one understood what kind of disease it was
- Nine months into the ordeal, Karina was diagnosed with SMA-PME, by which time she had completely stopped walking and could only sit and lie down
- Problems with epilepsy and neck tipping remain
The family holds out hope for a treatment for Karina. They actively seek out research that would cure her.
SMA-PME Research 