Rare Strokes, Bold Dreams, Hope Is Here

Program: PACS1

Alya’s Story:

Alya is a joyous little girl who loves attending her local Old Greenwich Public School and can be seen ringing the opening bell at school every morning. She is a star within the Old Greenwich School community, where she is loved and included. She enjoys solving her favorite puzzle, playing ‘catch the ball’, going for a walk in her stroller, and sitting with her mom, dad, and brother, Krish, at the dinner table every night.

When Alya was 5 weeks old, she suddenly started to have uncontrollable seizures, one after another, and was rushed to an emergency room where she was hospitalized for a week. Initially, MRIs and genetic testing didn’t reveal anything. So, her family felt they were forced to hope that things would resolve themselves and that she would live a normal life. Her family continued to fight for a diagnosis and, at age 3, a full-exome sequencing test revealed a nano-rare disease called PACS1 syndrome. The family was told that there were no treatment options available and to do their best to manage the symptoms.

Alya was significantly delayed in everything: she smiled late, she walked late, and still, at age 9, has only 3 spoken words – for her 3 favorite people, “mama”, “papa”, and “Krish”. She continues to have significant intellectual disability, motor delays, epilepsy (even with a ketogenic diet and multiple medications), is not toilet trained, cannot feed herself, and as it stands now, she will require life-long care in the most basic areas of life (such as feeding and safety). She has been through thousands of hours of therapies, 19 electroencephalograms (EEGs) since she was born, and countless procedures. Yet, she is smiling.

* In 2025, Alya received her first dose of a personalized experimental ASO medicine discovered and developed by n-Lorem