Heart Full of Hope

Program: PACS1

Amaal’s Story:

From early on, it was clear that Amaal’s path would look different. As an infant, she struggled to meet developmental milestones, and at just four months old, she began experiencing grand mal seizures. These seizures ultimately led to her heartbreaking diagnosis of PACS1 syndrome. Her family soon learned that many of her challenges were connected, including congenital heart anomalies, hypotonia, severe reflux, and developmental delays. Despite everything she faces, Amaal approaches life with remarkable strength and works hard in all of her therapies. Affectionately called a “PACS1 Princess” by her parents, she has a heart overflowing with love, a joyful sense of silliness, and a special fondness for showering her three older siblings with snuggles.

Amaal’s family is hopeful that, through receiving the ASO provided by n-Lorem, she could make gains in areas that have been especially challenging for her thus far, as growing data continues to demonstrate the benefits of ASOs. Just as her name translates to “hopes and dreams,” their hope is that Amaal’s journey helps pave the way for other PACS1 families and for children across the rare disease community.