Let's Talk About PTEN

In this debut episode, we welcome Kristin, founder and president of the P10 Foundation. After her personal diagnosis in 2011, Kristin recognized a lack of advocacy and resources for the disease, leading her to establish the foundation. The episode delves into the foundation's goals, the importance of research, and the resources available for patients and their families. Kristin emphasizes the importance of community support, patient involvement in research, and her hope for future treatments.

In this episode, teacher and writer Lori Ortega shares her journey with PTEN. She discusses overwhelming learning curve and the physical and emotional toll of managing a full-time job and family life during such a difficult time. Despite the challenges, she and her family have found a way to move forward, relying on each other and finding support in online communities and organizations like the PTEN Foundation. Tune in to learn about the importance of self-advocacy, finding the right medical professionals, and building a support network to help navigate the complex world of rare diseases.

In this episode, Dr. MacFarland discusses her work in creating a multidisciplinary care team at the Children's Hospital of Pennsylvania, differences between adult and child care for PTEN and the importance of early transition of care if possible for young PTEN patients. She also provides advice for clinicians not at a clinical center for excellence and the importance of conservative approaches in pediatric oncology.

Join us for an episode with 13 year old Keegan and his mother Ashley. They share their journey with Keegan's PTEN diagnosis. They discuss the initial signs and struggles leading up to Keegan's diagnosis and the challenges they faced navigating an unfamiliar medical landscape. They touch on support systems, medical advancements, and the hope for a future where timely PTEN diagnosis becomes commonplace.

Dr. Frazier delves into the significance of better measures for neurodevelopmental evaluations, particularly for individuals with P10 mutations. He highlights the importance of comprehensive assessments for ensuring effective interventions and provides an overview of an upcoming online assessment tool. This episode also emphasizes the value of collaborative efforts, like the partnership with the P10 Foundation, and offers resources and advice for both clinicians unfamiliar with P10 and families seeking to understand more.

If you're interested in being a guest or have topics you'd like us to cover, please reach out on the contact form below!