Unlocking Hope: Jill’s Journey from Diagnosis to Discovery on Rare Disease Day

In a powerful and moving talk at PNRI’s Science Matters Rare Disease Day Seminar on February 28, 2024, Jill Hawkins, FAM177A1 Research Fund's Founder and President, shared her family’s heart-wrenching eight-year quest for answers. What began as a search for a diagnosis for her children, Charlotte and Cooper, led to the groundbreaking discovery of pathogenic variants on their FAM177A1 gene—a revelation that would change their lives forever.

Jill and her husband Doug’s story is one of resilience, determination, and hope. Faced with the challenges of an ultra-rare and devastating disorder, they refused to stand still. Instead, they channeled their pain into purpose, founding the FAM177A1 Research Fund to drive scientific breakthroughs for families like theirs. In her talk, Jill reveals how she assembled a dedicated team of researchers who are now working tirelessly to unravel the mysteries of the FAM177A1 gene and develop life-changing treatments.

This recording is more than just a presentation—it’s a testament to the power of advocacy, the importance of rare disease research, and the unyielding love of parents fighting for their children’s future. Join Jill on this inspiring journey from uncertainty to hope, and discover how one family’s story is lighting the way for countless others.

Watch the full video to hear Jill and Doug’s story and learn how you can support the fight for a brighter future for those affected by FAM177A1-related disorders.