The heart behind Forgotten Rare
Augyst’s Story
Rare does not mean invisible.
Our daughter, Augyst, changed our lives forever—and inspired a mission to help families navigating rare and medically complex conditions feel less alone.
When everything changed
Augyst was born in December 2024. Within weeks, what we expected to be the normal experience of bringing home a healthy baby became specialist appointments, emergency room visits, hospital stays, blood work, scans, procedures, and surgeries.
When she was only weeks old, Augyst underwent emergency surgery for intestinal malrotation. That was only the beginning. Feeding difficulties, gastroparesis, recurrent infections, urinary tract problems, heart monitoring, immune abnormalities, and neurological findings brought new questions with every answer.
“Every answer seemed to create five new questions.”
An extraordinarily rare diagnosis
After months of searching, genetic testing revealed that Augyst has Hardikar syndrome, caused by a mutation affecting the MED12 gene. At the time of her diagnosis, she was believed to be one of only about two dozen documented patients worldwide.
Hardikar syndrome is a multisystem genetic disorder. It can affect the gastrointestinal system, liver and bile ducts, immune system, heart, kidneys and urinary tract, neurological development, eyes, blood counts, growth, and nutrition. Every child presents differently, and there is no standard treatment.
There was no handbook, no established community, and not enough published research to answer many of our questions. Her specialists were learning alongside us.
We became the keepers of her story
Our lives became calendars full of appointments, imaging, infusions, medication changes, insurance approvals, emergency visits, and specialists across multiple hospitals. Important details lived across portals, discharge summaries, lab reports, handwritten notes, and our own exhausted memories.
Like so many rare disease families, we became full-time caregivers, care coordinators, researchers, advocates, and record keepers. Each specialist saw one piece of the puzzle. We were the people connecting those pieces together.
Why Forgotten Rare exists
Forgotten Rare was built because families deserve a better way to organize medical histories, understand complex reports, track symptoms, prepare for appointments, connect information across specialists, and advocate with confidence.
It is the tool we desperately wished we had from the beginning. Everything we build is inspired by real experiences in hospitals, waiting rooms, specialist offices, and the long nights spent searching for answers.
Her story is still being written.
Augyst continues to amaze us with her resilience, strength, determination, and joy. She has taught us that hope can exist even in uncertainty—and that even the rarest stories deserve to be heard.
No family should ever feel forgotten.