Up until 3 months of age, Lena developed normally. She was a little bit weaker than average but being twin and premature baby was a simple explanation for this. Her family’s life changed irrevocably on the day of Christmas, 2021. Lena woke up and, out of nowhere, had her first seizure. Three days later, she was in the hospital with status epilepticus and experienced 30 grand mal seizures in 48 hours…

Despite being devastated, her parents acted fast and in Feb 2022 (thanks to DNA sequencing) she was diagnosed with a single-point mutation in the PACS2 gene, a nano-rare disease with only dozens of cases diagnosed worldwide. She struggles with epilepsy, intellectual disability, global development delay and autism spectrum.

Lena has committed countless hours towards various therapies helping her to improve on motor, social and speech skills. Despite them, she is behind in many areas, which is especially heart-breaking for her parents as they observe how she cannot keep up with her twin sister’s development and crazy ideas.

When Lena’s parents found out about n-Lorem, they knew it would be an amazing opportunity for their daughter. Putting the petal to the metal, a few weeks after Lena’s diagnosis, her application was submitted to n-Lorem by the amazing Dr. Wendy Chung from Columbia University.