Decoding NF

By: Shane Smith
  • Summary

  • A podcast for people with Neurofibromatosis (NF-1, NF2-SWN, and Schwannomatosis)--and the people who care for them.
    2024 Decoding NF
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Episodes
  • The Art and Science of Facial Reanimation--A Deep Dive with Dr. Tessa Hadlock
    Sep 13 2024

    My guest for this episode is Dr. Tessa Hadlock, a renowned facial plastic surgeon and expert in facial nerve disorders. Dr. Hadlock discusses her pioneering work in facial paralysis treatments, specifically focusing on conditions related to Neurofibromatosis Type 2 (NF2). The conversation delves into the various surgical and non-surgical options for facial reanimation, their associated risks, and long-term outcomes. Dr. Hadlock also emphasizes the importance of patient self-advocacy and the need for ongoing innovation and thorough tracking of medical results to improve quality of life for facial paralysis patients.

    00:00 Introduction and Guest Introduction

    03:01 Dr. Hadlock's Background and Expertise

    03:55 Understanding Facial Paralysis and Reanimation

    06:42 Facial Paralysis in NF2 Patients

    10:18 Treatment Options for Facial Paralysis

    12:42 Surgical Techniques and Considerations

    21:07 Physical Therapy and Botox for Facial Paralysis

    31:44 Outcomes and Success Rates

    40:16 Challenges in Medical Practice and Innovation

    57:38 The Importance of Patient Advocacy

    59:30 Conclusion and Closing Remarks

    If you'd like to support the show, we now have a Patreon membership! Sign up and get episodes over a week before they are released to the main feed!

    Thanks to our monthly supporters
    • Waz
    • Annette B.
    • Brianna W
    • Rosemary Anderson
    Show More Show Less
    1 hr and 1 min
  • Genetics, Research, and Future Therapies for NF1 with Dr. David Gutmann
    Aug 16 2024

    In this episode, my guest is Dr. David Gutmann, a leading neurologist specializing in Neurofibromatosis Type 1 (NF1). The conversation delves into Dr. Gutmann's groundbreaking research on the NF1 protein neurofibromin and its role in downregulating the RAS/RAF/MAPK cell signaling pathway. We explore various neurological issues associated with NF1, such as learning problems, brain tumors, and ADHD. Dr. Gutmann shares insights on current and future treatments, including MEK inhibitors and potential therapies targeting the tumor microenvironment. Additionally, we discuss the application of AI and machine learning in predicting disease risk and developing more personalized treatments. Our conversation underscores the importance of thinking about NF1 as a complex system and highlights the broader implications of NF research for other medical fields.

    For a bit of background on RAS/RAF/MAPK here is a thorough and helpful video that explains cell signaling: The MAP Kinase (MAPK) signalling pathway

    If you really want to delve into the details on this fascinating topic, here is another link that gets into the technical minutia: The Open University -- Cell Signalling

    During the interview, Dr. Gutmann references a paper his team recently published in collaboration with Dr. Michelle Monje's lab. That paper is Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice

    00:00 Introduction to the Episode

    00:22 Meet Dr. David Gutmann

    00:32 Dr. Gutmann's Research and Achievements

    02:36 Interview Expectations and Technical Notes

    04:53 Starting the Interview

    05:07 Dr. Gutmann's Early Career and NF1 Research

    07:11 Understanding Neurofibromin and RAS Pathway

    09:27 Exploring Neurofibromin's Other Functions

    20:28 Neurological Manifestations of NF1

    21:45 Behavioral Disorders and NF1

    28:10 Current and Future Treatments for NF1

    32:06 The Future of NF Research

    36:14 The Role of AI and Genomics in NF1

    48:31 Challenges and Opportunities in NF Research

    50:41 Closing Remarks and Optimism for the Future

    53:45 Episode Conclusion and Acknowledgements

    If you'd like to support the show, we now have a Patreon membership! Sign up and get episodes over a week before they are released to the main feed!

    Thanks to our monthly supporters
    • Waz
    • Annette B.
    • Brianna W
    • Rosemary Anderson
    Show More Show Less
    56 mins
  • The Role Of Service Dogs in NF with John Manth
    Jul 12 2024

    My guest this episode is John Manth, father of Leah Manth, who was diagnosed with Neurofibromatosis Type 2 (NF2-SWN) in 2007. John discusses their family's journey in seeking treatments and a cure for NF2, his extensive involvement in various NF organizations, and the impactful role of their service dog, Dasher. The conversation covers topics such as the training process for service dogs, the importance of service animals for individuals with disabilities, and the special relationship between Leah and Dasher. John also emphasizes the significance of community involvement and advocacy in the NF community.

    00:00 Introduction
    00:16 Meet John Math: Advocate and Father
    00:43 John's Advocacy and Achievements
    02:50 Interview with John Manth Begins
    03:07 Leah's Diagnosis and Journey
    03:45 The Role of Service Dogs
    05:32 Meet Dasher: Leah's Service Dog
    06:01 Training and Adaptation
    08:05 The Amazing Adaptability of NF Patients
    10:46 Legalities and Logistics of Service Dogs
    18:40 Long-Term Outlook and Retirement of Service Dogs
    23:35 The Bond Between Leah and Dasher
    23:50 Training and Adaptation for Evolving Needs
    24:59 Service Dogs for Various Disabilities
    25:58 Heartwarming Stories of Service Dogs
    28:16 Types of Working Dogs and Their Roles
    31:00 Traveling with a Service Dog
    32:33 The Reality of Owning a Service Dog
    34:46 Future Considerations and Assistive Technologies
    38:57 Getting Involved and Finding Support
    42:15 Conclusion and Contact Information

    Thanks to our monthly supporters
    • Waz
    • Annette B.
    • Brianna W
    • Rosemary Anderson
    Show More Show Less
    43 mins

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