Decoding NF

This is officially the end of Season 1. Thanks everyone, see you in 2025 for Season 2! Thanks to our monthly supporters Annette B. Rosemary Anderson

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 Introduction03:01 Dr. Hadlock's Background and Expertise03:55 Understanding Facial Paralysis and Reanimation06:42 Facial Paralysis in NF2 Patients10:18 Treatment Options for Facial Paralysis12:42 Surgical Techniques and Considerations21:07 Physical Therapy and Botox for Facial Paralysis31:44 Outcomes and Success Rates40:16 Challenges in Medical Practice and Innovation57:38 The Importance of Patient Advocacy59:30 Conclusion and Closing RemarksIf 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 Annette B. Rosemary Anderson

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 pathwayIf 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 SignallingDuring 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 mice00:00 Introduction to the Episode00:22 Meet Dr. David Gutmann00:32 Dr. Gutmann's Research and Achievements02:36 Interview Expectations and Technical Notes04:53 Starting the Interview05:07 Dr. Gutmann's Early Career and NF1 Research07:11 Understanding Neurofibromin and RAS Pathway09:27 Exploring Neurofibromin's Other Functions20:28 Neurological Manifestations of NF121:45 Behavioral Disorders and NF128:10 Current and Future Treatments for NF132:06 The Future of NF Research36:14 The Role of AI and Genomics in NF148:31 Challenges and Opportunities in NF Research50:41 Closing Remarks and Optimism for the Future53:45 Episode Conclusion and AcknowledgementsIf 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 Annette B. Rosemary Anderson

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 Introduction00:16 Meet John Math: Advocate and Father00:43 John's Advocacy and Achievements02:50 Interview with John Manth Begins03:07 Leah's Diagnosis and Journey03:45 The Role of Service Dogs05:32 Meet Dasher: Leah's Service Dog06:01 Training and Adaptation08:05 The Amazing Adaptability of NF Patients10:46 Legalities and Logistics of Service Dogs18:40 Long-Term Outlook and Retirement of Service Dogs23:35 The Bond Between Leah and Dasher23:50 Training and Adaptation for Evolving Needs24:59 Service Dogs for Various Disabilities25:58 Heartwarming Stories of Service Dogs28:16 Types of Working Dogs and Their Roles31:00 Traveling with a Service Dog32:33 The Reality of Owning a Service Dog34:46 Future Considerations and Assistive Technologies38:57 Getting Involved and Finding Support42:15 Conclusion and Contact Information Thanks to our monthly supporters Annette B. Rosemary Anderson

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 Neurofibromatosis03:38 Exploring Alternative Pain Management Strategies21:51 'I Can Cope NF' App for Chronic Pain30:25 Towards a Holistic Approach in Pain Management32:35 Exploring the Psychological Aspects of Chronic Pain33:32 The Interconnection of Chronic Pain, Depression, and Anxiety35:08 Effective Psychological and Physical Therapies for Chronic Pain36:35 Personal Insights and the Power of Movement in Pain Management40:27 The Challenge of Trying New Therapies and the Importance of Persistence43:41 Highlighting the Role of Community and Self-Help Resources50:23 Advocacy, Support Networks, and the Journey of Living with NF56:26 Closing Thoughts and the Importance of Resource AccessibilityDr. 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, PhDThe Chronic Pain and Illness Workbook for Teens: CBT and Mindfulness-Based Practices to Turn the Volume Down on Pain by Rachel Zoffness, PhDThe Pain Management Workbook: Powerful CBT and Mindfulness Skills to Take Control of Pain and Reclaim Your Life by Rachel Zoffness, PhDThe Mindful Self-Compassion Workbook: A Proven Way to Accept Yourself, Build Inner Strength, and Thrive by Kristin Neff PhD and Christopher Germer, PhDIn addition, he wanted to link to several organizations:Children's Tumor FoundationNF NetworkPubmed Thanks to our monthly supporters Annette B. Rosemary Anderson