Unraveling Rett Syndrome: A Mom's Journey Through a Rare Genetic Disease

In this episode of "Moving Medicine Forward" – The Podcast, Jill Black, Validation IT Principal Auditor at CTI, shares the deeply personal story of her daughter, Emma, and their journey navigating this rare disease. She offers valuable insights into the challenges and impact of Rett Syndrome, while discussing her work at CTI and how being part of an organization focused on rare diseases fuels her hope and purpose. Jill reflects on her experience speaking at the 2024 Rett Syndrome National Summit, supported by NORD, and highlights the critical role of connecting with other parents and advocates. Tune in as Jill explores the exciting progress in Rett Syndrome research, including the FDA-approved drug and the work of pharmaceutical companies aiming to find a cure.  

1:19 – Jill shares the powerful story of her daughter, Emma, and her journey with Rett Syndrome, including key insights into the condition and its impact. 

6:10 – Jill discusses her role at CTI and how working with an organization that focuses on rare diseases has given her a sense of hope and purpose in making a real difference. 

6:33 – Reflecting on her experience speaking at the 2024 Rett Syndrome National Summit, Jill talks about how NORD supported her attendance, enabling her to connect with other parents and advocates in the Rett Syndrome community. 

7:50 – After 25 years of research, one FDA-approved drug is available for Rett Syndrome. Jill explains how 20 pharmaceutical companies are currently working to find a cure and the progress being made. 

9:00 – Jill shares ways listeners can get involved and support families living with Rett Syndrome.