TSC Now

In a very special episode of TSC Now, host Dan Klein provides a sneak peek of the 19.5 Annual Comedy for a Cure® on Sunday October 17 at 7:30 pm Eastern/ 4:30 pm Pacific! This will be a hybrid event, so if you live in Southern California and are fully vaccinated you can attend in-person at Feinstein’s at Vitello’s in Studio City, California. In person tickets are $75. Also, just like last year we will livestream the show so you can watch from the comfort of your couch! Virtual tickets are $25 per screen and we encourage you to invite your friends over and host a watch party. To help get you excited for the show, Dan spoke to the hosts and guests of this year’s event! First, Dan talked with incredibly funny Jim O’Heir (02:17), who will be one of the hosts for Comedy for a Cure. Jim shares how he first got involved with the event in 2013 and didn’t know the name of the disease, why he continues to stay involved in any way he can, and how he connects with families with TSC that he meets at the event and online. He also sheds some light on how the Comedy Committee for the event works and makes an ultimatum for anyone not considering buying tickets to the event. Next, Dan catches up with Wendy Liebman, the other host of the event (18:55). She shares how misplaced mail jump started her comedy career, what her experience was like competing on America’s Got Talent, and how she was able to secure the amazing lineup of comedians for the show. This year we will be honoring all the ways she has helped move our mission forward by awarding her with the TSC Champion award. Finally, Dan spoke to Althea Grace (29:44), musician and TSC mom who burst on to the scene on American Idol Season 19.  Originally from Chicago, her journey with her two-year old daughter Lennon was highlighted and helped raise incredible awareness of TSC. She shares how her music was inspired by her experience in the hospital when her daughter needed a liver transplant, her road to getting a TSC diagnosis, and how being on the show helped her connect with other people affected by TSC across the country. For her efforts we will be honoring Althea with the Courage in Leadership Award and she will also be performing at this year’s event. Get your Comedy for a Cure tickets now at www.comedyforacure.org! Learn more about Althea Grace at https://altheagraceband.com/.

In a very special early edition of TSC Now, host Dan Klein explores the topic of infantile spasms (IS) as Infantile Spasms Awareness Week (ISAW), held annually December 1-7 to raise awareness of IS with both parents/caregivers and frontline physicians, comes to a close. To learn more about infantile spasms go to www.infantilespasms.org. First, Dan talks to Kelly Knupp, MD, Associate Professor of Pediatrics and Neurology at the University of Colorado Anschutz Medical Campus and member of Infantile Spasms Action Network (ISAN) (01:23). She discusses what infantile spasms are, what they look like and are sometimes misdiagnosed as, and why they are so serious to the cognitive development of babies. She also explains what tests need to be done to confirm a diagnosis, what first line treatments are available, and why early intervention is so important. Finally, she offers advice to parents who suspect their child might be having spasms, and urges all parents who are concerned to first take a video of the strange behavior to share with their doctor and then don’t delay in seeking care despite the ongoing COVID-19 pandemic. Then, Dan talks to Ashley Callahan of St. Augustine, Florida (14:53). In June when her daughter Kaylee was 4 months old, Ashely noticed Kaylee making strange repetitive eye movements, which prompted a trip to the emergency room despite the COVID-19 pandemic and eventually a diagnosis of infantile spasms. Ashley shares what led to the decision to take Kaylee to the emergency room, what it was like getting a diagnosis of IS, and how she has found support through groups online. She also shares her advice for other parents who may be worried about their child and encourages them to trust their instincts. Throughout Infantile Spasms Awareness Week, the TS Alliance and other ISAN partners have made a coordinated effort to develop resources for families and to generate coverage of this important initiative. Below are some links to some of these resources and coverage of #ISAW2020. Our deepest thanks to everyone who helped raise awareness of infantile spasms this year. Resources and Links TS Alliance President and CEO Kari Rosbeck joined Dr. Rahat Sayyad, host of the DoctorMommySpeaks podcast, to talk about infantile Spasms:  https://podcasts.apple.com/us/podcast/ep-16-how-to-identify-infantile-spasms-take-action/id1524071289?i=1000500499737 Kari also spoke to Dr. Elliot Berlin, host of the Informed Pregnancy Podcast: https://www.informedpregnancy.com/listen/episode/3a869a0f/infantile-spasms-kari-rosbeck Dr. Martina Bebin, MD, MPA, Professor of Neurology and Pediatrics at the University of Alabama at Birmingham Epilepsy Center, discussed the challenges of IS in an interview with NeurologyLive: https://www.neurologylive.com/view/martina-bebin-md-mpa-challenges-associated-with-infantile-spasms A written version of the interview can be found here: https://www.neurologylive.com/view/neurovoices-martina-bebin-md-mpa-on-infantile-spasms-awareness Dr.  Shaun Hussein, MD, MS, Director of the UCLA Infantile Spasms Program, gave an interview with Babygaga on how to identify infantile spasms: https://www.babygaga.com/interview-dr-shaun-hussain-infantile-spasms/ The Callahan family shared their story with the St. Augustine Register, Newsweek and St. Augustine Moms (full links below) St. Augustine Register: https://www.staugustine.com/story/news/local/2020/11/26/st-augustine-family-deals-infantile-spasms/6407392002/ Newsweek: https://www.newsweek.com/my-baby-had-medical-emergency-during-covid-1551428 St. Augustine Moms: https://staugustine.momcollective.com/health-wellness/my-infant-experienced-a-medical-emergency-during-covid-infantile-spasms/ The Mosco family shared the story of their daughter Hanna’s IS diagnosis in the San Diego Union-Tribune: https://www.sandiegouniontribune.com/opinion/commentary/story/2020-12-07/commentary-dont-avoid-check-ups-or-the-er-becuase-of-coronavirus-our-baby Finally, the Infantile Spasms Awareness Network created a short video to help parents know the signs on IS: https://youtu.be/kRt8muFfUQo A Spanish version is also available for sharing: https://youtu.be/KwnuYOureUw

November is Epilepsy Awareness Month, and to help raise awareness, TSC Now host Dan Klein talks to Starr Phipps, an adult living with drug-resistant epilepsy. She shares her story, including how she faced stigma as a child, how her lack of control over her seizures impacted her emotional and physical well-being, and how continuing to push for treatments changed her life and inspired her to help others. This episode is sponsored by LivaNova. The opinions expressed are those of the host and guest speaker individually and do not reflect the policies or positions of Livanova. The following content is for informational purposes only. It is not medical advice and is not intended to recommend or suggest a course of treatment or treatment options. Be sure to talk to your doctor about your symptoms and conditions.

In this episode of TSC Now, host Dan Klein interviews Karen Keough, MD, a child neurologist at Child Neurology Consultants of Austin. Dr. Keough defines drug resistant epilepsy (DRE), explains how lack of seizure control can impact someone’s quality of life and shares some treatment options beyond medication, including surgery, dietary therapies and neuromodulation devices. This episode is sponsored by LivaNova. Additional resources TSC Alliance: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/epilepsy-and-seizure-disorders/ Epilepsy Foundation of America: https://www.epilepsy.com/ International League Against Epilepsy: https://www.ilae.org/ Child Neurology Consultants of Austin: https://www.childneurotx.com/conditions/epilepsy-seizures/ This episode is sponsored by:

Disclaimer: This episode is sponsored by Nobelpharma America LLC. The opinions expressed are those of the host and guest speaker individually and do not reflect the policies or positions of Nobelpharma. The following content is for informational purposes only. It is not medical advice and is not intended to recommend or suggest a course of treatment or treatment options. Be sure to talk to your doctor about your symptoms and conditions. In this episode of TSC Now, Dan learns about the findings of an adult panel hosted by Nobelpharma America on Rare Disease Day. He also connects with an adult with tuberous sclerosis complex (TSC) who shares her story. First, Dan chats with Justine Ravindranath, Commercial Operations Manager at Nobelpharma America (01:37). On Rare Disease Day 2023, Nobelpharma sponsored a panel discussion with a few young adults who have been diagnosed with TSC. One goal of that event was to shed light on some of the challenges young people encounter as they transition into adulthood. Justine talks about how panelists emphasized the importance of a strong support system and stability to navigate these challenges. Finally, they talk about resources available to young adults with TSC, including Face Forward with TSC, a website created by Nobelpharma America and Totally Super Cool, a children’s book about living with TSC that is available digitally on the Face Forward with TSC site. Next, Dan connects with Iris Mustich (16:07), an adult with TSC and TSC Alliance volunteer who was awarded the Keith Hall Distinguished Leadership Award during the Volunteer Leadership Celebration earlier this year. She shares her experience growing up with TSC, connecting with other adults during the pandemic and what ultimately inspired her to volunteer. She also talks about how it felt being honored by the community, and how she applies both her lived experience and her professional background to support other adults and work to address the unmet needs of the adult community. Resources and Links: Learn more about Face Forward with TSC: https://faceforwardwithtsc.com/ Request a digital copy of Totally Super Cool: https://faceforwardwithtsc.com/resources/ Download the Navigating the transition years of TSC Guide: https://www.tscalliance.org/wp-content/uploads/2016/11/NavigatingTransitionYearsOfTSC11-22WEB.pdf Learn about resources for Young Adults from the TSC Alliance: https://www.tscalliance.org/individuals-families/young-adults/ Learn about our Adult Initiative and resources for adults with TSC: https://www.tscalliance.org/individuals-families/adults/ Register for the 2023 Step Forward to Cure TSC Global Hybrid Walk-Run-Ride: https://give.tscalliance.org/event/2023-step-forward-to-cure-tsc-r-global-hybrid-walk-run-ride/e433629 Learn about the 2023 Regional TSC & LAM Conference Series: https://www.tscalliance.org/individuals-families/2023conferences/ Sponsored by:

In this episode of TSC Now, host Dan Klein dives deep on a new clinical trial in tuberous sclerosis complex (TSC) called TSC-STEPS. TSC-STEPS is a study to learn more about a drug known as Sirolimus and determine if it can prevent seizures and epilepsy in children diagnosed with TSC. The study is currently enrolling infants diagnosed with TSC who are at risk of developing epilepsy. \ Dan interviews Darcy Krueger, MD, PhD, Director of the TSC Center of Excellence at Cincinnati Children’s Hospital and member of the TSC Alliance Board of Directors (0:59). Dr. Krueger provides an overview of the trial, the eligibility requirements, risks and benefits to participation, and what participation entails for families in terms of site visits and tests. He also discusses how the trial builds off findings of earlier intervention trials and may be part of a greater shift in the paradigm of care for those with TSC. Finally, he provides information about other upcoming and ongoing trials looking for older participants, and encourages everyone listening to help raise awareness of these important trials to help recruit participants and move research forward. Resources and Links Learn more about the TSC-STEPS trial: https://tscsteps.org/ Learn more about the MILED trial: https://www.thelamfoundation.org/MILED Learn more about the Developmental Synaptopathies Consortium: https://www1.rarediseasesnetwork.org/cms/dsc Learn more about the Bcureful Travel Fund at the TSC Alliance: https://www.tscalliance.org/individuals-families/bcureful-travel-lodging-assistance/ Learn more about clinical trial participation: https://www.tscalliance.org/individuals-families/tsc-clinical-trials/ Check out TSC clinical trials that are currently recruiting: https://trials.tscalliance.org/  

In the first episode of TSC Now in 2023, host Dan Klein recognizes International Epilepsy Day (February 13, 2023) and Seizure Action Plan Awareness Week (February 13-20, 2023) by learning about seizure clusters, which are episodes of frequent seizure activity that are distinct from a person’s usual seizure pattern. Seizure clusters may also be called acute repetitive seizures, serial seizures, crescendo seizures or seizure flurries and in every case they are an emergency that often require rescue medication, calling for emergency response or both. Dan is joined by James Wheless, MD, (01:33) Director of the Neuroscience Institute and Comprehensive Epilepsy Program and Co-Director of the TSC Center of Excellence at Le Bonheur Children’s Hospital, and Professor and Chief of Pediatric Neurology at University of Tennessee Health Science Center. Dr. Wheless describes what seizure clusters are, why they are a medical emergency and how new rescue medications can provide peace of mind to people who suffer from seizure clusters. He also discusses the importance of creating a seizure action plan and how to best implement and refine that plan to make sure it is working. Finally, he emphasizes the importance for parents to meet with their neurologist as soon as they notice irregular seizure activity and to not hesitate to use rescue medication when their loved one experiences an irregular change in the frequency or severity of their seizures. Resources and Links Learn more about International Epilepsy Day: https://internationalepilepsyday.org/ Learn more about Seizure Action Plans and Seizure Action Plan Awareness Week: https://seizureactionplans.org/ This episode is sponsored by:

In the final episode of TSC Now in 2022, host Dan Klein connects with two incredible advocates for individuals with disabilities and learns how families can find support to help them with both everyday and long-term decisions for their loved ones. First, Dan chats with Kelly Piacenti, Head of Special Care at MassMutual (01:24). Kelly shares how her experience managing care for her son with special needs helps her support other parents as they make legal decisions for their children. She debunks common myths about the cost of financial planning, when to start and the need for a special needs trust. She also talks about the importance of a letter of intent as a first step to making a plan and shares what information should be included in a letter of intent. To learn what SpecialCare at MassMutual can do for your family, visit their website or contact Kelly Piacenti at kpiacenti@massmutual.com. You can get additional resources for estate and financial planning  in the Resources section of the TSC Navigator. Next, Dan talks to Megan Cortjens, Executive Director of Our Place (27:37). Our Place is an online community where families with disabilities can connect with other families, share their experiences, find resources in their community, and get assistance from experts on a wide range of topics, including taxes, IEPs, travel, waiver applications and more. Megan shares how the site came to be and she is trying to break silos of information by creating a single place where the disability community can find resources on whatever their biggest challenges are. She shares about some of the major features of the site, including the Knowledge Center featuring easy-to-understand videos on various topics, and the Medicaid map where users can find Medicaid providers in their area. You can learn more about Our Place by going to joinourplace.com. Links and Resources Learn more about SpecialCare and MassMutual: https://www.massmutual.com/lp/specialcare Watch a Lunch & Learn interview with Kelly: https://youtu.be/6lfttMG0L2s Watch a presentation from Kelly on Guardianship Options, Financial Planning and Government Benefits from our 2021 E-Webinar Series: https://www.youtube.com/watch?v=18ppVaLQZko&ab_channel=TSCAlliance Learn more about Our Place: https://www.joinourplace.com/ Review our aging caregiver checklist: https://www.tscalliance.org/wp-content/uploads/2021/09/Aging-Caregiver-Checklist-.pdf Explore our Navigation Guides to understand what to expect at each stage of life: https://www.tscalliance.org/individuals-families/publicationsandsample-letters/ Learn more about special needs planning from the Special Needs Alliance: https://www.specialneedsalliance.org/ Learn more about special needs trusts: https://www.natlawreview.com/article/understanding-special-needs-trusts This podcast is sponsored by:

In a special bonus episode of TSC Now, host Dan Klein learns about a new children’s book called Totally Super Cool, which was developed by Nobelpharma America, LLC. This Podcast is being sponsored by Nobelpharma America LLC. The opinions expressed are those of the speakers individually based on their experience and do not reflect the policies or positions of Nobelpharma. The following content is for informational purposes only. The book being discussed is fictional and may not reflect the experiences of an actual TSC patient. Individual symptoms, treatment, and experiences related to TSC may vary. The story follows a day in the life of two kids, Tori and Tommy, who have TSC and facial angiofibroma. The sister-brother duo share experiences familiar to kids with TSC, including answering questions about facial angiofibroma and visiting different healthcare specialists. What makes this story unique is how the narration accompanies their day, which finds fun words for the acronym TSC.​ In the end, Tori and Tommy see how their family and friends care for them and want them to Take Special Care. Totally Super Cool aspires to show children with TSC that their accomplishments are what make them special and unique. To learn more about the book and the process to develop it, Dan talks to Doug Loock, VP Head of Commercial Operations at Nobelpharma America, LLC and Jonathan Goldstein, a former future leader for the TSC Alliance who participated in a panel during the development of the book (01:21). For more information on how to get a copy of Totally Super Cool, email NPA-corporate-info@Nobelpharma-US.com. Learn more about Nobelpharma America at https://www.nobelpharma-us.com/.

In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part two, Dan explores the history of tuberous sclerosis complex (TSC) conferences and speaks to inspiring leaders who have shaped the TSC Alliance’s past and will continue to shape it’s future. On Saturday, July 30, 2022, during the Blue Night Dinner at the 2022 World TSC Conference, Dr. Michael and Janie Frost were presented the TSC Champion Award. Michael and Janie Frost have both devoted their careers and lives to helping individuals and their families affected by TSC. Dr. Frost is a board-certified child neurologist and epileptologist.  He was a founding team member of Minnesota Epilepsy Group in 1991 and established the Upper Midwest TSC Clinic Without Walls after meeting Dr. John Hulbert at a TSC Alliance research conference in 2002. During his tenure as Co-Director of the TSC Clinic, he served as an investigator on several pivotal clinical trials including Afinitor, which led to its approval for treating SEGAs in 2010; Epidiolex that led to its approval in 2020; and the current PREVeNT Trial, the first preventative clinical trial for epilepsy in the United States.  In 2006, Minnesota Epilepsy Group was one of two pilot sites for the TSC Natural History Database.  Additionally, Dr. Frost served on the Clinical Consensus Group in 1998 to help establish the original TSC Clinical Consensus Guidelines and continued this role through two additional revisions with a special expertise in comprehensive and coordinated care.  Dr. Frost continues to provide his guidance as a member of the TSC Alliance Professional Advisory Board. Janie Frost is a trained epilepsy nurse. She served as a member of the TSC Alliance Board of Directors from 2006-2011 and as Secretary in 2009.  With her expertise in clinical care, she helped organize the 1999 (Washington, DC) and 2001 (San Diego) National Family Conferences and Chaired the National and World TSC Conferences in 2006 (Chicago), 2014 (Washington, DC) and 2018 (Dallas).  These conferences are among the most prolific gatherings of the global TSC community and were successful because of her outstanding leadership and dedication.  Janie also generously served on the planning committee for the Minnesota-based Sound Bites events as well as the 35th, 40th and 45th TSC Alliance anniversary galas. Prior to Blue Night Dan caught up with the Frosts (01:42). They talked about how family conferences have changed since the 1980s, what makes the TSC community and TSC Alliance unique in our ability to advance research and inspire others to join our cause, how they first got involved in TSC research, and what advice they would give to new parents at the start of their TSC journey. Then, Dan catches up with Preston Fitzgerald (23:23). Preston served as a Future Leader during the 2021-2022 school year and in that role he and his cohort organized webinars and provided support to other young adults with TSC. Preston was attending the World TSC Conference for the first time and shares how strange it is meeting people in person after several years of virtual interaction during the COVID-19 pandemic, what his plans are now that he has graduated from college magna cum laude, and what advice he gives to other young adults living with TSC. This podcast is sponsored by:

In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part one Dan talks to two inspiring and visionary leaders in the tuberous sclerosis complex (TSC) community. On Thursday, July 28, during the opening of the 2022 World TSC Conference in Dallas, the Ramesh and Kalpana Bhatia Family Foundation announced a new collaboration with the TSC Alliance, working together to uncover biomarkers, test new treatments and connect researchers with families to better address TSC-associated neuropsychiatric disorders (TAND), which impact nearly everyone living with tuberous sclerosis complex (TSC). The $2.5 million foundational gift is the largest single donation in the TSC Alliance’s history. Dan first chats with Anita Bhatia, Executive Director of the Ramesh and Kalpana Bhatia Family Foundation, who announced the transformational investment to the TSC community at the conference (02:25). They discuss what it was like to announce the partnership in Dallas, what motivates her family’s generosity and how she hopes this investment will accelerate research on TSC-associated neuropsychiatric disorders (TAND) to develop new treatments and educate physicians and individuals affected by TSC so they can be better advocate for high quality care. This new funding will create “Anya’s Accelerator,” which will focus on furthering TAND translational research. TAND includes a wide range of cognitive, behavioral and psychiatric challenges linked to the disease’s effect on brain function. The three-year “Anya’s Accelerator” research program will focus on three major goals: Developing quantifiable patient-reported outcomes for the most impactful aspects of TAND utilizing the combined expertise of individuals and families living with TSC and clinical researchers; Identifying biomarkers and predictors of specific aspects of TAND through collaborative and inclusive analysis of existing samples and data; and Improving the translatability of and testing candidate drugs in TAND-relevant animal models by incorporating biomarkers or predictors relevant to those identified in humans. Next, Dan catches up with Pete Crino, MD, PhD, Chair of the TSC Alliance Board of Directors and the Clinic Director at the TSC Center of Excellence at the University of Maryland Medical Center (21:11). They talk about how conferences like the World TSC Conference are conduits for both the community to form new connections and get more involved in the organization, but also for researchers and clinicians to foster new collaborations and explore new avenues of research. Dr. Crino also shares why the TSC community is a vital partner in advancing TSC research and how with the support of the community and a dedicated corps of researchers and clinicians, and the infrastructure developed by the TSC community to support research, a cure for TSC is within reach. If you weren’t able to join us in Dallas at the World TSC Conference, conference session recordings will be made available on our YouTube channel in early 2023. Resources and Links Learn more about the $2.5 million gift from the Bhatia Family Foundation: https://www.prnewswire.com/news-releases/tsc-alliance-and-ramesh-and-kalpana-bhatia-family-foundation-announce-new-tsc-research-collaboration-301594331.html Learn more about the Ramesh and Kalpana Bhatia Family Foundation: http://www.rkbhatiafoundation.org/ Learn more about TAND: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/ Learn more about the TSC Center of Excellence at the University of Maryland Medical Center: https://www.umms.org/ummc/health-services/neurology/services/tuberous-sclerosis This podcast is sponsored by:

In this episode of TSC Now, host Dan Klein recognizes the 20th Anniversary Comedy for a Cure® on Sunday, April 3 at the Avalon in Hollywood, California! To kick off the celebration, Dan learns about the past and present of this amazing event from some dedicated volunteers, and interviews one of this year’s honorees. First, Dan talks to the very funny Craig Shoemaker (0:52), who serves on the Comedian Committee and helps book comedians for the event every year. Craig shares how he first got involved with the event, how this show is different from other comedy shows, how he pitches the show to prospective comedians and what ultimately gets them to stay involved year after year. Then, Dan talks to Lisa Szilagyi (10:49), a TSC Alliance volunteer and mother to a young adult with TSC. She shares how she first got connected to the Southern California TSC community, where the idea for hosting a comedy fundraiser came from and how Comedy for a Cure has evolved over the years. Finally, Dan talks to Jo Anne Nakagawa (21:34), TC Alliance Director of Clinical Projects and TSC Clinic Liaison. She shares how she first got involved in the pivotal vigabatrin study at UCLA, how she found her way to the TSC Alliance and what she’s most proud of accomplishing while with the organization. Jo Anne will be honored with the TSC Champion Award for her steadfast commitment to the TSC community for nearly three decades. Learn more about this year’s Comedy for a Cure at www.ComedyforaCure.org.

In the final episode of TSC Now in 2021, host Dan Klein recaps the 2021 Virtual International TSC & LAM Research Conference: Driving Discoveries Beyond Boundaries, presented by Greenwich Biosciences and the Rothberg Institute of Childhood Diseases and co-hosted by the TSC Alliance® and The LAM Foundation. The conference brought together 179 people from 18 countries including researchers with a wide array of specialties and representing everything from basic to clinical science, who took part in plenary sessions, oral presentations, posters, and discussions around cross-cutting topics, including big data and clinical translation. Dan chats with conference co-chairs Nishant Gupta, MD, Assistant Professor of Medicine at the University of Cincinnati, Director of the LAM Clinic Network, and Scientific Director of the LAM Foundation, and Rebecca Ihrie, PHD, Associate Professor of Cell and  Developmental Biology and Neurosurgery at Vanderbilt University about their impressions of the conference overall, what topics they found most interesting and how the TSC and LAM research community can build off the momentum of the conference and foster the next generation of TSC and LAM researchers. Dan also asks them what areas of TSC and LAM research they find most exciting and what they think the future holds for the field. Resources and Links: Learn more about the research conference: https://www.tscalliance.org/researchers/research-conferences/ Download the conference program book: https://www.tscalliance.org/wp-content/uploads/2021/10/2021-Intl-TSC-LAM-Res-Conf-Program-Book.pdf Learn more about the MILED clinical trial and how to get involved: https://www.thelamfoundation.org/MILED Nominate a TSC Alliance community volunteer for one of our Volunteer of the Year Awards: https://www.tscalliance.org/news/submit-your-nominations-for-our-volunteer-of-the-year-awards/ Learn More about the 2022 World TSC Conference: https://www.tscalliance.org/2022-world-tsc-conference/ Conference registration Opens Monday, January 3, 2022 Book your room for the conference today: https://book.passkey.com/gt/218256181?gtid=57f8b757a9eedc1e8f1572c336936050 You can also make a reservation by calling 1-800-774-1500 and using group code “TSC”

In Episode 30 of TSC Now, host Dan Klein kicks of Infantile Spams Awareness Week 2021, an initiative from the Infantile Spasms Action Network (ISAN) that runs December 1-7. ISAN is a collaboration of 32 national and international entities, including the TSC Alliance, focused on raising awareness for infantile spasms, a devastating type of seizure that usually begins in children who are less than one year old and can lead to developmental delay. This year in addition to raising awareness of IS to parents and caregivers, ISAN is redoubling our efforts to educate frontline physicians, including pediatricians and ER doctors, who might be the first person confronted with an IS case and who are key to elevating those cases to the appropriate specialists to ensure a quick diagnosis and start of treatment. To better understand the challenges physicians may face when trying to diagnose IS and how ISAN might reach physicians with our messaging, Dan chats with Dr. John Mytinger (01:31), a pediatric neurologist at Nationwide Children’s Hospital and Assistant Professor of Clinical Pediatrics and Neurology at The Ohio State University College of Medicine. He shares why IS can be tough to diagnose, what the seizures look like, and how professors, doctors and advocates all play a role in educating medical professionals. He also discusses what parents should do if they suspect their child is having infantile spasms. Throughout the week the TSC Alliance and other ISAN members will be posting about Infantile Spasms on our social media channels. Join the conversation and help spread awareness with #ISAW2021. If you or someone you know suspects their child is having infantile spasms, remember the mnemonic STOP IS. [S]ee the signs [T]ake a video [O]btain a diagnosis [P]rioritize treatment Time is brain. The faster a child is diagnosed and treated for infantile spasms, the less the potential for long-term neurological effects. Learn more about Infantile Spasms Awareness Week (Dec. 1–7) at www.infantilespasms.org. Links and Resources Learn more about  infantile spams at https://infantilespasms.org/ Know the signs of  infantile spasms by watching this video: https://www.youtube.com/watch?v=kRt8muFfUQo&ab_channel=TSCAlliance Physicians and healthcare professionals can learn more about IS here: https://infantilespasms.org/physicians-medical-providers/

In Episode 29 of TSC Now, host Dan Klein highlights TSC Navigator, an easy-to-use, interactive online tool to help guide individuals and families through the complexities of tuberous sclerosis complex (TSC) across the lifespan, proactively manage their care and live their fullest lives. TSC Navigator was launched in October 2021 and includes sections on “Beginning Your Journey,” “Stories of Hope,” “Medical Challenges,” “Support Navigators” and “Resources.”  Users can access information based on the age of one’s TSC diagnosis, such as prenatal, childhood or adult, to help determine which steps will help empower them throughout their individual journeys. You can learn more about the TSC Navigator at tscalliance.org/tscnavigator. First, Dan talks to Ashley Pounders (02:06), MSN, FNP-C, TSC Alliance Director of Medical Affairs who led the development of TSC Navigator. She shares who all was involved in developing content and designing the layout of the TSC Navigator (including medical experts, corporate partners and the TSC community), how her experience as a former healthcare professional shaped what information she wanted to include in the tool, and how the tool works independently and in tandem with the TSC Alliance website. She also describes the many challenges TSC individuals and families face along their journey and how the TSC navigator provides templates and resources caretakers and individuals with TSC can take with them when meeting with their doctors and advocating for care. Next, Dan talks to Dana Holinka (16:18), Chair of the Outreach Committee on the TSC Alliance Board of Directors, longtime volunteer and parent to an adult with TSC. Dana shares where the idea for creating the navigator came from, what her experience was like receiving a TSC diagnosis without access to the resources we have today, and the challenges she faced that the navigator helps new families prepare for. She also offers her advice to parents who are receiving a new TSC diagnosis and coming to the website and TSC navigator tool for the first time. The development of the TSC Navigator would not been possible without our generous sponsors: North Star Sponsors         Compass Sponsor Cardinal Sponsor Directional Sponsors           

In Episode 26 of TSC Now, host Dan Klein takes a deep dive into one of the newer and exciting frontiers in TSC research: Newborn Screening. Last Fall, the TSC Alliance hosted an Innovation Workshop that brought together TSC researchers, newborn screening experts and other nonprofits with experience advocating for other diseases to be included in the newborn screening panel to start to set the road map forward. From that meeting the TSC Alliance put a call out to our community for dried blood spots from infants with TSC in certain states to help eventually validate an assay and earlier this month we put out a call for proposals to fund research to start developing that assay. To understand where we need to go and what will be necessary to get tuberous sclerosis complex added to the recommended uniform screening panel (RUSP), Dan spoke to two people who helped organize the Innovation Workshop. First, Dan spoke to Hope Northrup, MD (01:42), Director of the Division of Medical Genetics, Professor in the Department of Pediatrics, and TSC Clinic Director at the McGovern Medical School at the University of Texas Health Science Center at Houston. Drawing from an impressive career in both TSC and newborn screening, Hope provides a history of newborn screening both in general and in the United States, what they key tenets are to determining whether a disease should be included on the RUSP, and ultimately what the clinical and research benefits are to having TSC included. Next, Dan spoke to TSC Alliance Chief Scientific Officer Steve Roberds, PhD (23:31), to better understand how newborn screening fits into the larger research efforts of the organization, what steps we have taken to date to move this process forward, and what potential hypotheses we are hoping to test through new research funding. Steve also shares what the timeline and next steps are for both researchers and advocates once an effective and sensitive assay is in place. The TS Alliance is Seeking Historical Dried Blood Spots and Cord Blood from Individuals with TSC for Newborn Screening Assay Development. Was your child with TSC born in Michigan, New York, Texas, or California? The TSC Alliance is actively seeking access to newborn dried blood spots and stored cord blood from babies born after 1985. If you are interested in donating samples that are potentially stored in your state to the TSC Alliance, please email biosample@tscalliance.org. The TSC Alliance also recently announced a new funding opportunity for Newborn Screening (NBS) Assay Development. If you are a researcher interested in learning more about this opportunity and submitting a letter of intent you can learn more at www.tscalliance.org/grants. The deadline to submit an LOI is Monday, August 23. Resources and Links Learn more about the Recommended Uniform Screening Panel: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html

In Episode 25 of TSC Now, host Dan Klein recognizes Worldwide LAM Awareness Month (#WWLAM) by focusing on lymphangioleiomyomatosis (LAM), a rare lung disease affecting women that is characterized by an abnormal growth of smooth muscle cells, especially in the lungs, lymphatic system and kidneys. LAM is caused by mutations in the same gene(s) as TSC and is a common manifestation for women with TSC but can also occur sporadically with no other TSC manifestations. To help raise awareness of LAM on the last day of Worldwide LAM Awareness Day, this episode will focus exclusively on LAM, research being done to develop new treatments and ultimately a cure, and the organization that is leading the charge to improve the lives of women with LAM in the US. First, Dan talks to Sue Sherman, MHA, Chief Executive Officer of The LAM Foundation (02:18). The LAM Foundation was founded in 1995 by a mother of a woman with LAM with a mission to urgently seeks safe and effective treatments, and ultimately a cure, for lymphangioleiomyomatosis through advocacy and the funding of promising research. They are dedicated to serving the scientific, medical and patient communities by offering information, resources and a worldwide network of hope and support. They discuss how The LAM Foundation has changed over the years, how their investment in research has helped pave the way for breakthroughs, how the organization pivoted during the COVID-19 pandemic, and how they are raising awareness of LAM during Worldwide LAM Awareness month. Next, Dan talks to Hilaire Lam, PhD (14:22), Research Associate in the Division of Pulmonary and Critical Care Medicine at Brigham and Women’s Hospital and an instructor in medicine at Harvard Medical School. The ultimate goal of Dr. Lam’s research is to leverage mTORC1-driven mitochondrial alterations to uncover therapeutic targets for TSC and LAM. She shares more about the aims of her research, how she first became interested in LAM, what gaps exist in our understanding of LAM and how researchers are currently looking to address those outstanding questions to develop new therapies. She also discusses how she is motivated by women living with LAM and how their relentlessness inspires her to help find a cure. Earlier this month in recognition of Worldwide LAM Awareness Month, the TSC Alliance hosted an e-webinar titled “LAM in TSC: Surveillance, Treatment and Research” presented by Souheil Y. El-Chemaly, MD, Clinical Director of the Center for LAM Research and Clinical Care at Brigham and Women’s Hospital. The webinar covered surveillance, management and treatment recommendations based on the latest consensus guidelines, clinical trials currently taking place and a look to the future of research in LAM. A recording of the presentation will be available on our e-webinars website soon at tscalliance.org/e-webinars. Resources and Links Visit The LAM Foundation’s website: https://thelamfoundation.org/ Learn more about Worldwide LAM Awareness Month: https://thelamfoundation.org/WorldwideLAMAwarenessMonth Learn more about LAM in TSC: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/lungs/ Follow The LAM Foundation on social media: Facebook – https://www.facebook.com/TheLAMFoundation Twitter – https://twitter.com/LAMFoundation Instagram – https://www.instagram.com/thelamfoundation/ LinkedIn – https://www.linkedin.com/company/the-lam-foundation/ YouTube – https://www.youtube.com/channel/UCYldYVWkpHqEvL0ETHND43g Check out Journeys, a comprehensive blog on LAM research, patient advocacy, education and awareness provided by The LAM Foundation: https://thelamfoundation.org/Blog Join The LAM Foundation Community to receive their emails: https://www.thelamfoundation.org/Take-Action/Join-The-LAM-Foundation-Community              

It’s the two-year anniversary of TSC Now and we’re celebrating with a new name, the TSC Alliance! If you missed our announcement on May 16, the Tuberous Sclerosis Alliance has changed our name to the TSC Alliance to reflect how the organization has evolved over the years and with the name change we also have a new logo, new branding and a new tagline, “Hope no matter how complex.” Learn more about this evolution. In recognition of #TSCGlobalDay and TSC Awareness Month, host Dan Klein learns about two global collaborative projects aimed at improving the lives of those living with rare diseases around the world. First, he talks to Matt Bolz-Johnson (02:44), Programme Director of the Collaborative Global Network for Rare Diseases at Rare Diseases International (RDI), who is leading a partnership with the World Health Organization to develop the first Collaborative Global Network for Rare Diseases. RDI envisions a world where people living with a rare disease, no matter where they live, can reach a network of expertise for accurate and timely diagnosis and appropriate care and believe that to strengthen health systems to address the needs of the 300 million people worldwide living with a rare disease requires common strategies and action at the national, regional and global level. The TSC Alliance and the TSC Alliance of India have partnered with RDI to help advance this project and Dan and Matt discuss how advocacy organizations play a vital role in the global network model. Then, Dan catches up with Professor Petrus de Vries, MBChB, FRCPsych, PhD, Sue Struengmann Professor of Child & Adolescent Psychiatry at the University of Cape Town, South Africa, and Professor Anna Jansen, MD, PhD, Pediatric Neurologist at Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel in Belgium (18:12). Petrus and Anna are Principal and Co-Principal Investigators of the TANDem Project, an international effort to improve the lives of families dealing with TSC-associated neuropsychiatric disorders (TAND) through the development of technology empowering families to self-administer the TAND checklist and access tools to address specific TAND manifestations. They provide an update on the project, what they’ve learned through the first year and a half working with the various clusters, and what the timeline and aims are for the future. Thank you to everyone who has listened and supported TSC Now over the last two years, we will continue to work hard to provide entertaining and valuable content for families and individuals affected by tuberous sclerosis complex. Resources and Links Learn more about Rare Diseases International: https://www.rarediseasesinternational.org/ Learn more about the Collaborative Global Network for Rare Diseases: https://www.rarediseasesinternational.org/cgn4rd/ Watch Matt present on the Collaborative Global Network and Universal Health Coverage: https://www.youtube.com/watch?v=RsDxadzNs7A&ab_channel=RareDiseasesInternational Learn more about TSC-Associated Neuropsychiatric Disorders: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/ Learn more about the TANDem Project: https://tandconsortium.org/ Download the TAND Checklist in multiple languages: https://tandconsortium.org/checklists/ Submit tips to the project team on how your family manages TAND manifestations: https://tandconsortium.org/checklists/

In Episode 22 of TSC Now, host Dan Klein explores overcoming hurdles in healthcare, specifically to help parents/caregivers and individuals with tuberous sclerosis complex (TSC) navigate issues with access to medications, changes to their health plans and how to best communicate with specialty pharmacies. This episode is sponsored by Greenwich Biosciences. Disclaimer: Greenwich Biosciences utilized Precision Value and Health’s services to gather and respond to the questions being discussed on this podcast. The opinions expressed are those of the speakers individually based on their experience and do not reflect the policies or positions of the speakers’ employers or of Greenwich Biosciences. The following content is for informational purposes only and does not guarantee access or coverage of any product.  First, to provide some context on what access challenges can be like for individuals and families, Dan talked to Shelly Meitzler (01:40), TS Alliance Regional Program Manager East and mom to Ashlin and Mason with TSC.  Shelly shares about a recent challenging experience refilling a prescription for Ashlin earlier this year. She talks about where she hit roadblocks, how she felt navigating the insurance and pharmacy system, and how she ultimately got resolution. Her story highlights several common hurdles experienced by many families, including problems when switching insurance plans, not knowing when a prior authorization is required, trying to figure out who your care team is at your pharmacy, and finally dealing with a retail pharmacy versus a specialty pharmacy. Then, to tackle common questions, some of which were mentioned in Shelly’s story, Dan speaks to two former payers, Hetty Lima and Kellie Rademacher from Precision Value and Health (17:44). Building off of their extensive pharmacy knowledge, Hetty and Kellie answer a number of questions members have when dealing with access issues, such as: What do I need to do if my health plan changes? What do I do when my medication is no longer covered by my insurance plan? How do I navigate having two different health plans? How do I know when a medication requires a prior authorization, step therapy, or has a quantity limit or any other type of rule or edit that could impact access? Where can I find available resources if I need emergency access to my medications? This conversation builds off of an E-Webinar from earlier this year, Overcoming Hurdles: Insurance, Scripts and Specialty Pharmacy, where Jeff Krol, VP of Market Access & Payer Strategy at Greenwich Biosciences, and Ashley Pounders, MSN, FNP, TS Alliance Director of Medical Affairs, provide useful tips on navigating the complex prescription insurance coverage, scripts and specialty pharmacy. We encourage you to re-watch the recording for more information and resources on this topic. Finally, if you are at risk of running out of a medication for you or your loved one and need assistance, please contact us on our emergency line: (240) 463-7250. That number is available 9 AM to 9 PM Eastern and someone from our team can help. Resources and Links Overcoming Hurdles: Insurance, Scripts and Specialty Pharmacy E-Webinar: https://youtu.be/Opik3h7Z4ek Download the slides from the presentation: http://www.tsalliance.org/wp-content/uploads/2021/02/GRNEPXLA20011_002-TS-Alliance-Webinar-Presentation-FINAL.pdf   This episode was sponsored by:

In the first episode of TSC Now, host Dan Klein dives deep on the upcoming Virtual March on Capitol Hill taking place March 1-5, 2021. Due to the ongoing COVID-19 pandemic, the TS Alliance has decided to protect our volunteers by holding the march virtually. The March on Capitol Hill is the TS Alliance’s annual effort to advocate for continued funding for the Tuberous Sclerosis Complex Research Program (TSCRP) a subset of the Congressionally Directed Medical Research Program at the Department of Defense. Through these efforts $97 million has been allocated for the TSCRP since 2001 and last year our advocates successfully advocated for an increase in the annual appropriation to $8 million. If you are interested in volunteering please send an email to grc@tsalliance.org. First, Dan spoke with Chip Burkhalter (02:13), a parent and TS Alliance Board Member, who came to the March on Capitol Hill for the first time last year. He shares how he first got involved, and why he believes getting connected and volunteering is so important after getting a TSC diagnosis. They also discuss how the TS Alliance advocates have been able to garner bipartisan support for TSCRP funding even in the most partisan environments. Next, Dan talks to Kaushal Asrani, MBBS, PhD (16:09), a Research Associate in the Department of Pathology, at the Johns Hopkins University School of Medicine. He talks about his research to understand whether lysosomal biogenesis is a potential driver of tumorigenesis and therapeutic target in tuberous sclerosis, from which initial results will be published later this year. They also discuss how TSCRP funding has been pivotal to his work and how connecting with families at last year’s event provides motivation to continue to discover new therapies. Finally, Dan catches up with Sara Chieffo (25:30), a parent, TS Alliance Board Member and Chair of the Government Relations Committee. She shares what motivated her to get involved in government advocacy, how our volunteers can be effective virtually this year, and why you should get involved too. Resources and Links Learn about the TS Alliance’s Government Advocacy Program: https://www.tsalliance.org/engage/government-advocacy/ Learn more about the TSCRP: https://cdmrp.army.mil/tscrp/default Read an abstract of Dr. Asrani’s TSCRP-funded project:https://cdmrp.army.mil/search.aspx?LOG_NO=TS180078 Meet Dr. Asrani’s Team at Johns Hopkins: http://labs.pathology.jhu.edu/lotan/our-team/ Learn about what goes into our advocacy efforts by enrolling in TSC Academy, the TS Alliance’s e-learning platform: www.tscacademy.org