The story of Loredana
Loredana has a smile that lights up your soul, she can’t get enough hugs from her family members, and watching the family pets provides hours of entertainment.
Loredana also has a rare genetic condition that affects around 1 in 108,000,000 called Leukoencephalopathy with Thalamus and Brain Stem involvement and high lactate, likely caused by a dual mutation on the EARS2 gene. Of course, being as rare as it is, there’s no definitive link proven so far.
This condition affects the mitochondria, it causes global development delay, she will always be at risk of respiratory issues and organ failure. Fatigue will be a constant factor and she can regress if seriously ill or stressed.
Loredana is still progressing though, shes learning new skills and making gains through physio and persistence with the help of her family. She is a beacon of hope and inspiration to those around her.
The one thing we know for sure about Loredana’s rare disease is that nothing is really known, this means her story is not yet written, and nothing is impossible.