In this episode, Host Annette Hines welcomes Erin Prosser and her daughter, Lucy’s (Lulu) neurologist, Dr. Christina Bergqvist of the Children’s Hospital of Philadelphia to share their story of working together to care for Lulu and treat her neuro-developmental disease, STXBP1 encephalopathy. This is a great example of how a family member and caregiver can work successfully with a medical provider.
Many of those who live with a rare disease themselves or are a caregiver of someone with a rare disease will relate to this story and the challenges that the Prosser family has faced in seeking a treatment plan for Lulu.
One of the treatments that worked for Lulu has been the ketogenic diet, which Erin learned how to provide for Lulu through the Children’s Hospital of Philadelphia’s Keto Kitchen classes.
Hear a related episode on epilepsy and seizures: A Family’s Journey with Epilepsy or episodes and family stories on rare diseases: