In this episode we sit down with Gillian Sapia, a registered nurse, rare disease advocate, and mom to Penelope, who lives with classic galactosemia. Gillian leads advocacy efforts for the Galactosemia Foundation and works closely with the Haystack Project and EveryLife Foundation to represent rare disease families before the FDA and Congress.

Gillian shares her personal journey: what life was like before Penelope’s birth, the trauma of Penelope’s metabolic crisis, and how she navigated postpartum depression and grief while learning to advocate for her daughter. She opens up about the complexities of raising a child with galactosemia alongside multiple comorbidities, including seizures, autism, and Chiari malformation, and the ways her nursing background and recovery journey shaped her approach to patient advocacy.

This episode also dives into the challenges of participating in a drug trial, her experience with Govorestat (AT-007), and the grassroots advocacy that emerged after the FDA denied accelerated approval. Gillian reflects on the emotional weight of advocacy work and her leadership role as Principal Investigator for the galactosemia patient registry—documenting the burden of disease to support future treatments, newborn screening, and community care.

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To contribute to the new parent episode, send an email to: thegalactosemiapodcast@gmail.com

Details: Record a video in a quiet room, keep it under three minutes. Include your name, your relationship to galactosemia, and your message to a parent that has just received a new galactosemia diagnosis.

Thought starters: What advice/words of comfort or wisdom would you give to a parent that just received a galactosemia diagnosis?

Guest Bios:

Gillian Sapia is a registered nurse and rare disease advocate based in Florida. She is a mother to Penelope, who lives with classic galactosemia and multiple comorbidities. Gillian is deeply involved in policy and legislative advocacy for the Galactosemia Foundation and works with national rare disease coalitions such as the Haystack Project and EveryLife Foundation. She also leads the galactosemia patient registry to help researchers better understand the burden of disease and identify paths toward treatment.

0:00:00 – Intro & Meet Gillian Sapia

0:04:00 – Explaining Galactosemia & Everyday Advocacy

0:10:00 – From ICU Nurse to Rare Disease Mom

0:16:00 – IVF Journey, Birth, and Metabolic Crisis

0:23:00 – Trauma, Recovery, and Postpartum Depression

0:29:00 – Seizures, Comorbidities, and Searching for Answers

0:38:00 – Chiari Malformation, Brain Surgery & Family Impact

0:45:00 – Govorestat Trial: Hopes, Setbacks & Improvements

0:56:00 – Advocacy at the FDA & The PFDD Meeting

1:03:00 – The Patient Registry & Building a Case for Treatment

1:10:00 – Living with Progress: Govorestat’s Effect on Penelope

1:16:00 – Final Reflections & Looking Ahead