APBD Patient Chats

Since 2014, we have been bringing people impacted by APBD together, via Patient Chats, every month. These Chats, led by Harriet Saxe, are a place where patients talk about their symptoms, the impact of those symptoms on their lives, and attempts to find workarounds. As important, the patients also use these sessions to provide their voices to our Foundation.

Join us on the fourth Wednesday of every month, starting at 5pm PT.
To participate, email us at info@apbdrf.org.

In Fall 2020, we received the Society for the Study of Inborn Errors of Metabolism’s Patient/ Family Support Award in the amount of €4,500 (or $5,600) to support patients and families impacted by APBD. Recognizing the need for patients to stay connected in spite of the lockdowns around the world, as well as their interest in hearing from health experts, we began inviting key health experts to join our monthly Patient Chats.

If you missed one of these Sessions with our health experts, follow the links below to get caught up:

• Speech and Swallowing Disorders in APBD (April 24, 2024)
  Guest Speaker: Harrison Jones, PhD (Duke University)
• APBD Genetics: Genes, Enzymes, and Research, Oh my! (December 13, 2023)
  Guest Speaker: Noelle Lynch, GS Intern (Columbia University)
• Fall Risk, Recovery Techniques, and Prevention Considerations (November 15, 2023)
  Guest Speaker: Tracy Boggs, PT, MPT, NCS (Duke University)
• How Physiotherapy Can Help Mitigate APBD Symptoms (June 28, 2023)
  Guest Speaker: Kat Supa, BScPT (Lifemark Heritage Hill)
• A Doctor Detective Discusses Rare and Undiagnosed Diseases (Feb. 23, 2022)
  Guest Speaker: Dr. Clyde Partin (Emory University)
• Documenting Your APBD Experience in a Natural History Study (Apr. 27, 2022)
  Guest Speaker: Rebecca Koch, PhD (Duke University)
• APBD and Bladder Issues Q&A (Sept. 22, 2021)
  Guest Speaker: Dr. Melissa Reigle (in private practice, OH)
• Engaging a Zoom-based Personal Trainer (April 28, 2021)
  Guest Speaker: Bob Nelson, MS, CPT, LMT
• Managing Bladder Dysfunction (Feb. 24, 2021)
  Guest Speakers: Dr. Paulo Victor Sgobbi de Souza and Dr. Wladimir Bocca Vieira de Rezende Pinto (Federal University of São Paulo, Brazil)
• The Genetics Behind APBD (Nov. 18, 2020)
  Guest Speaker: Alexandra Tinfow (Columbia University)
• Foot Drop and Orthotics (Oct. 28, 2020)
  Guest Speakers: Cathy Morris (physical therapist) and Kris Desjardins (certified prosthetist and orthotist)

We’re also working on translating these presentations into French, German, Hebrew, and Portuguese to reach our international community members. Stay tuned!