Decoding NF

This is officially the end of Season 1. Thanks everyone, see you in 2025 for Season 2!

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

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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

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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

This episode features Dr. Frank Buono, an Associate Research Scientist and Lecturer at the Yale School of Medicine, discussing his research on utilizing digital technologies to assist with treatment for individuals with rare diseases like neurofibromatosis (NF), with a focus on managing chronic pain. Dr. Buono talks about his latest project, a mobile app called 'I Can Cope-NF' designed for chronic pain management in NF1 adults, its development process, preliminary positive results from a study conducted in 2022, and future plans for public release after ongoing trials. The conversation also touches on different aspects of chronic pain, including its psychological effects, various pain management strategies beyond pharmacological treatments (like cognitive behavioral therapy, mindfulness, physical therapy), and the importance of a multidisciplinary approach and community support for patients. Dr. Buono emphasizes the significance of self-advocacy, exploring alternative treatments, and the potential of digital tools to provide accessible care options for those with limited resources.

02:12 Understanding Chronic Pain in Neurofibromatosis
03:38 Exploring Alternative Pain Management Strategies
21:51 'I Can Cope NF' App for Chronic Pain
30:25 Towards a Holistic Approach in Pain Management
32:35 Exploring the Psychological Aspects of Chronic Pain
33:32 The Interconnection of Chronic Pain, Depression, and Anxiety
35:08 Effective Psychological and Physical Therapies for Chronic Pain
36:35 Personal Insights and the Power of Movement in Pain Management
40:27 The Challenge of Trying New Therapies and the Importance of Persistence
43:41 Highlighting the Role of Community and Self-Help Resources
50:23 Advocacy, Support Networks, and the Journey of Living with NF
56:26 Closing Thoughts and the Importance of Resource Accessibility

Dr. Buono alluded to several books during the interview, here are some of the titles he'd like to highlight:
Get Out of Your Mind and Into Your Life: The New Acceptance and Commitment Therapy by Steven C Hayes, PhD
The Chronic Pain and Illness Workbook for Teens: CBT and Mindfulness-Based Practices to Turn the Volume Down on Pain by Rachel Zoffness, PhD
The Pain Management Workbook: Powerful CBT and Mindfulness Skills to Take Control of Pain and Reclaim Your Life by Rachel Zoffness, PhD
The Mindful Self-Compassion Workbook: A Proven Way to Accept Yourself, Build Inner Strength, and Thrive by Kristin Neff PhD and Christopher Germer, PhD

In addition, he wanted to link to several organizations:
Children's Tumor Foundation
NF Network
Pubmed

Welcome to Decoding NF! This is just a brief introduction to the show.