50th Anniversary Spotlight – Shonnie Johnson

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2024 marks the 50th anniversary of the TSC Alliance, which was founded by four moms in Southern California in 1974. To celebrate the anniversary of the organization, throughout the year TSC Now will feature interviews with some of the people who helped shape this organization.

In this episode host Dan Klein had the distinct pleasure of talking to Shonnie Johnson, a former TSC Alliance board chair, longtime volunteer and supporter of the organization, and grandmother to Annie Johnson, an adult living with TSC.

Learn more about the five-decade history of the TSC Alliance: https://www.tscalliance.org/spotlight-on-tsc-alliance/

Join us in celebrating 50 years by attending our 50th Anniversary Gala in New York City on Friday, October 25, 2024: https://tscalliance.schoolauction.net/50forward/

Can’t make it to the Gala? You can still be part of recognizing 50 years by purchasing a tribute ad or honorary name listing in the 50th Anniversary Commemorative Program Book: https://tscalliance.schoolauction.net/50forward/register/ticket_sales

Episode 49: Community Spotlight – Gloria Triebenbach

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In a final bonus episode in 2023, host Dan Klein connects with Gloria Triebenbach, Chair of the TSC Alliance of the Pacific Northwest and Step Forward to Cure TSC Walk Chair for the walk in Renton, Washington. Gloria describes herself as a mother of an adult daughter with TSC, honorary mother of a 2nd adult daughter with TSC, and mom of 2 adults without TSC.

“I am an advocate, a wife, a grandma and a nurse. Our family knows good days and we know terrible, horrible days that start with the worst that tuberous sclerosis complex (TSC) can hand out. It takes a huge dedicated team of people to work on issues as big as TSC and my goal is to not stop until TSC is defeated. My family and I give everything, but up!”

Gloria was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.

Episode 48: Community Spotlight – Kristen Moore

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In a bonus episode, host Dan Klein connects with Kristen Moore, Vice Chair of the TSC Alliance of the Carolinas and Step Forward to Cure TSC Walk Chair for the Carolinas Walk. Kristen and her husband, Douglas, moved to Charlotte in 2012 and welcomed their TSC Warrior Jackson to the world in 2019. Jackson was diagnosed with tuberous sclerosis complex (TSC) when he started having seizures at seven weeks old. He underwent laser ablation brain surgery at 17 months. Kristen is a fierce advocate for Jackson and is committed to raising awareness, advocating and fundraising for a better future, services, research, and ultimately a cure, for him and others in the TSC community. Earlier this year, Kristen was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.

Kristen shares her family’s diagnostic journey, what motivated her to volunteer, and how the TSC community helped her navigate the waves of this disease.

Episode 47: Closing the Epilepsy Treatment Gap Worldwide

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In this episode, host Dan Klein learns about Pretola Global Health and Consulting Limited and how they advocate for a better future for people living with epilepsy, learning disability and autism around the world. Earlier this year, the TSC Alliance partnered with Pretola on the 4th edition of the Epilepsy Assessment and Management Course, an online course for physicians in low and middle income countries around the world to learn about epilepsy and related comorbidities. This years course featured a lesson on tuberous sclerosis complex (TSC) and featured presentations by Dr. Pradnya Gadgil in India, Professor Anna Jansen from Belgium and Professor Petrus De Vries from South Africa. 

Dan talks to Tolu Olaniyan, Bsc LD Nursing, MSc Epilepsy, Founder and CEO of Pretola. She shares how her upbringing inspired her to start the organization, what some of the major barriers are to treatment in low income countries and how through educating frontline physicians she is trying to overcome those barriers.

Learn more about Pretola Global Health Consulting Limited: https://www.pretolaghc.net/

Episode 46: Understanding drug resistant epilepsy and treatment options

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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

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Episode 45: The 2023 International TSC Research Conference

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On this episode of TSC Now, host Dan Klein recaps the 2023 International TSC Research Conference: Fueling the Future held September 7-9, 2023, in Washington, DC. The conference brought together over 200 researchers from around the world representing a wide array of specialties and the entire spectrum from basic science to clinical research.

The comprehensive three-day agenda included plenary sessions, breakout group discussions, a poster session and reception, as well as an Early Career Research Symposium during which early-stage investigators had the opportunity to report on their cutting-edge research, network, and learn about the diverse paths forward in the field of TSC research. To learn more about how the conference came together, what was discussed and what are some of the outcomes coming from those discussions Dan interviewed the two Co-Chairs of the conference.

First, Dan spoke with with Shafali Jeste, MD, (01:42) Professor of Pediatrics and Neurology at the USC Keck School of Medicine, and the Las Madrinas Chair, Chief of Neurology and Co-Director of the Neurological Institute at the Children’s Hospital, Los Angeles. They discuss the role of the Co-Chair in the planning and execution of the conference, how bringing in outside experts create new avenues for research and collaboration, and how recent clinical trials may provide a blueprint for the standard surveillance and care for infants with tuberous sclerosis complex (TSC).

Next, Dan talks to Rebecca Ihrie, PhD, (14:41) Associate Professor, Cell & Developmental Biology and Neurological Surgery, Vanderbilt University School of Medicine. She shares how basic scientists benefit from interactions with clinical researchers and the TSC community, how new techniques cell biology may allow for more targeted drug testing and how participation in the conference by early-career researchers helps them form connections and determine their future path in research.

Learn more about the 2023 International TSC Research Conference by downloading the program book.

Episode 44: Rare Conversations

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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:

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Episode 43: The TSC-STEPS Trial

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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

 

Episode 42: Understanding Seizure Clusters

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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

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Episode 41: Help Today, Help Tomorrow

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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.

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Episode 40: Totally Super Cool!

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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/.

Episode 39: Inspiring a World TSC Community

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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.

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Episode 38: Galvanizing a World TSC Community

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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:

  1. 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;
  2. Identifying biomarkers and predictors of specific aspects of TAND through collaborative and inclusive analysis of existing samples and data; and
  3. 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

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Episode 37: The MILED Trial and the Future of LAM Research

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In this episode of TSC Now, host Dan Klein celebrates Worldwide LAM Awareness Month (#WWLAM) and raises awareness of lymphanhgioleiomyomatosis (LAM) and a pivotal clinical trial in LAM that is enrolling right now.

Dan interviews Frank McCormack, MD, Professor and Director of the Division of Pulmonary, Critical Care and Sleep Medicine at University of Cincinnati and former Scientific Director of The LAM Foundation for 25 years. Dr. McCormack is the lead investigator for the Multicenter Interventional Lymphangioleiomyomatosis Early Disease (MILED) Trial, designed to answer the question of whether we should be starting sirolimus at low doses earlier in the course of LAM, before symptoms develop and while lung function is still normal, similar to the manner in which we treat diabetes and high blood pressure early to prevent future heart and kidney complications..

Dr. McCormack shares how the previous MILES trial which led to the approval of sirolimus for the treatment of LAM in 2015 gave women a safe and effective treatment and created the foundation for the current trial looking at whether earlier intervention may potentially prevent serious loss of lung function for women with LAM. He shares the eligibility criteria for the trial, the risks and benefits of participation and how those interested in participating can enroll. He also discusses the future of LAM research and how new tests, preclinical models and drug candidates are needed to accelerate therapies that don’t just impede the growth of LAM cells, but actually kills the cells to help restore lost lung function.

Researchers are currently seeking 10 additional participants for the MILED Trial.

You may be eligible if you:

  • Are an adult woman with LAM
  • Have an FEV1 greater than 70% predicted
  • Are not currently taking sirolimus

During the study, participants will:

  • Attend 8 study visits over 2 years (about one visit every 4 months)
  • Complete blood tests, a physical exam, and pulmonary function tests at visits
  • Answer questions about breathing, fatigue and quality of life
  • Take one capsule every day (1 mg sirolimus or a sugar pill) throughout the study
  • Record their pill taking and any side effects in an electronic diary

Participants will receive:

  • Physical exams, pulmonary function tests, a chest x-ray, and laboratory tests free of charge
  • Study drug (either 1 mg sirolimus or placebo) throughout the study
  • Reimbursement for travel expenses to attend each study visit

To get more information or to see if you may be eligible, please contact Susan McMahan Sellers, BSN, RN at SUSAN.MCMAHAN@UC.EDU or by calling 513-558-4376.

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Episode 36: TSC Awareness Month

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In this episode of TSC Now, host Dan Klein recognizes TSC Awareness Month and the 10th Annual TSC Global Awareness Day! He starts by providing an update on the Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride. Fundraising pages are open until the end of the year, help us reach our goal at stepforwardtocuretsc.org. You can watch the #StepForward4TSC Lunch and Learns on YouTube and Facebook. Be sure to also check out our event montage.

Next, Dan talks to two TSC dads who are both registered for the 2022 World TSC Conference. First, he interviews Ary Agami, President of the TSC Alliance of Mexico. Ary shares how hard it was getting treatment for his daughter in Mexico, how he connected with other families to build a network of support, and how attending the last World TSC Conference gave him the opportunity to connect with doctors, researchers and bring that knowledge and those resources back to Mexico.

As part of the 2022 World TSC Conference there will be a free session for Spanish-speaking families. This session will feature a panel of experts who will provide resources and information to the Spanish-speaking TSC community on new clinical consensus guidelines for TSC. The meeting will be held on Friday, July 29 from 5:30 to 7 pm Central at the Hilton Anatole in Dallas, Texas. Register here.

Then, Dan talks to Guillermo Henrici, a TSC dad in Atlanta, GA, who shares the story of his daughter Lily’s journey with TSC. He recounts how he connected with the TSC Alliance and what it meant to him to attend the 2018 World TSC Conference and meet other families like his. Thank you Ary and Guillermo for graciously sharing your stories and helping raise awareness of TSC both in Mexico and here in the United States.

You don’t want to miss the  2022 World Tuberous Sclerosis Complex (TSC) Conference, July 28-31, 2022, at the Hilton Anatole Hotel in Dallas, TX, co-hosted by Tuberous Sclerosis Complex International (TSCi). The conference will bring together 1,000 participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, researchers, a wide array of exhibitors and others. Register by June 30, 2022 to get the best price!

Register Today!

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Episode 35: The Past, Present and Future of Autism Research in TSC

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In this episode of TSC Now, host Dan Klein recognizes World Autism Month by taking a deep dive on the past, present and future of autism spectrum disorder (ASD) research in TSC. Dan talks to Shafali Jeste, MD, Chief of Neurology and Las Madrinas Chair at the Children’s Hospital of Los Angeles and Professor of Neurology and Pediatrics at Keck School of Medicine of USC.

Dr. Jeste shares what first sparked her interest in autism and her early work on the characterization of autism at Boston Children’s Hospital, subsequent studies looking for biomarkers of autism, and how the discovery of those biomarkers paved the way for current early intervention studies, including the JASPER Early Intervention for Tuberous Sclerosis Complex (JETS) Study. She also talks about how the JETS Study pivoted to remote participation to help enrollment, and how researchers need to do more to reduce barriers for clinical trials and recruit diverse participation.

Enrollment is ending soon on the JETS Study, learn more about the study and how to participate here: https://www.jetsstudy.org/

Register now for the 20th Anniversary Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride on May 14-15, 2022! 

As part of the weekend’s festivities we will be hosting three in-person events at West Chester, PA; Carrollton, TX; and Irwindale, CA! Simply choose the location you’d like to attend when you register. You can also participate virtually in your neighborhood, around your house or wherever you are!

Learn more at stepforwardtocuretsc.org.

You don’t want to miss the  2022 World Tuberous Sclerosis Complex (TSC) Conference, July 28-31, 2022, at the Hilton Anatole Hotel in Dallas, TX, co-hosted by Tuberous Sclerosis Complex International (TSCi). The conference will bring together 1,000 participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, researchers, a wide array of exhibitors and others. Register by June 1, 2022 to get the best price!

Register Today!

Episode 34: Celebrating 20 Years of Comedy for a Cure

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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.

Episode 33: Noema, Basimglurant and a New Clinical Trial for Seizures in TSC

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In a very special early episode of TSC Now, host Dan Klein recognizes International #EpilepsyDay and the kickoff of the second annual Seizure Action Plan Awareness Week. In November 2020, a collaboration of three non-profit organizations, the TSC Alliance, Dravet Syndrome Foundation and Lennox-Gastaut Syndrome (LGS) Foundation, launched the Seizure Action Plan (SAP) Coalition to educate people with epilepsy, their caregivers and healthcare professionals about seizure emergency rescue protocols and the importance of personalized seizure action plans.  As part of this effort the group is recognizing Seizure Action Plan Awareness Week (#SAPAW2022) to coincide with International Epilepsy Awareness Day on February 14.

This month’s episode is sponsored by Noema Pharma and explores their clinical trial to treat seizures common in TSC. A Swiss biotech company, Noema, is investigating a novel substance which has shown some positive effects in laboratory models related to tuberous sclerosis complex (TSC). The substance is called basimglurant, and it affects the activity of glutamate, an important molecule used by many neurons to communicate with other neurons in the brain, by acting on a receptor for glutamate called mGluR5. The company is setting up clinical trials to test whether the effect seen in the laboratory may also be seen in people.

First, to learn more about basimglurant and preclinical experiments underpinning the upcoming clinical trial, Dan spoke to Ype Elgersma, Professor of Molecular Neuroscience, Head of Research in the Department of Clinical Genetics, and Director of the ENCORE Expertise Center for Neurodevelopment Disorders at the Erasmus Medical Center In The Netherlands; and John Kemp, Former Chief Scientific Officer at Noema (02:28). They share what metabotropic glutamate receptor 5, or mGluR5, is and how increased activity at mGluR5 may lead to epilepsy; how negative modulators of this overactivity may be used as a treatment for epilepsy in TSC, and how Dr. Mustafa Sahin of Harvard Medical School tested this hypothesis in TSC mouse models. Findings from this study was published in 2018 in Neuropsychopharmacology. 

Next, Dan spoke to Ali Mostajelean, MD, Associate Professor of Neurology, Director of the Epilepsy Service and Tuberous Sclerosis Clinic at UCSF Benioff Children’s Hospital; and George Garibaldi, Chief Medical Officer at Noema (07:55). They shared how Noema is using the findings in animal models as justification for a clinical trial and share how clinical studies using basimglurant for depression and Fragile X showed that the compound was safe in humans, albeit not as effective as researchers thought it would be in those disease states.

Finally, Dan spoke with Renata Lazarova, VP of Development, Pediatric Programs at Noema, and Steve Roberds, PhD, Chief Scientific Officer of the TSC Alliance (10:55), to learn what the clinical trial looks like, who can enroll, how Noema will determine whether the drug is efficacious and safe, and where people can find more information. Steve also talked about our partnership with Noema and how they worked with the TSC Alliance early on to solicit feedback from the TSC community and design a trial that both meets the needs of those with TSC and considers the quality of life of those participating.

Noema’s clinical study with their negative modulator of mGluR5 is currently participants across the US, Russia, Ukraine, Israel and Australia. For more information including the list of sites participating in the study, please contact Jo Anne Nakagawa at jnakagawa@tscalliance.org or (301) 562-9890.

Resources and Links
Learn more about International Epilepsy Day: https://internationalepilepsyday.org/
Learn more about the Seizure Action Plan Coalition and #SAPAW2022: https://seizureactionplans.org/
Learn more about epilepsy in TSC: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/epilepsy-and-seizure-disorders/
Read an abstract of Dr. Sahin’s research looking at mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex: https://www.nature.com/npp/about?gclid=Cj0KCQiA34OBBhCcARIsAG32uvPcCBYuxzzlON-Xe9EikeYJD6XNNl8TDElaFiONa-02BSWFUv4w2voaAk6REALw_wcB

This episode is sponsored by:

Learn more about Noema Pharma: https://noemapharma.com/

Episode 32: The 2022 World TSC Conference

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In the first episode of TSC Now in 2022, host Dan Klein provides an overview of the upcoming 2022 World TSC Conference, co-hosted by Tuberous Sclerosis Complex International (TSCi), which will be held July 28-31, 2022 and will bring together 1,000 participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, researchers, a wide array of exhibitors, and others. Thank you to Title Sponsor Jazz Pharmaceuticals and Presenting Sponsor Nobelpharma for making this incredible conference possible.

Dan interviews Shelly Meitzler, Director, Community Education & Resources at the TSC Alliance® and Co-Chair of the conference about how the conference is structured, what sorts of topics will be covered, what social events are happening at the conference and how people can participate both in person and remotely. Shelly also shares why she thinks this is one of the most important events the TSC Alliance hosts and reflects on some of her favorite moments from the last World TSC Conference in 2018.

Conference registration is now open, register today! The early bird registration deadline is June 1, 2022. Also, be sure to book your room with the Hilton Anatole through our link to get our special rate.

Thanks to the generous support from the Foglia Family Foundation and the TSC Alliance Endowment Fund to the Bcureful Travel Fund, the TSC Alliance will provide a limited number of scholarships in memory of Ken Johnson to individuals or families who might otherwise not be able to attend the 2022 World TSC Conference. Scholarship applications are available here. All applications are due by March 1, 2022.

Resources and Links:

Episode 31: The Present and Future of TSC & LAM Research

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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:

Episode 30: Infantile Spasms Awareness Week 2021

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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

Episode 29: The TSC Navigator

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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

          

Episode 28: Comedy for a Cure® 2021!

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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/.

Episode 27: Going Back to School and Caring for the Caregiver

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In Episode 27 of TSC Now, host Dan Klein learns how parents can prepare for the start of a new school year despite the ongoing pandemic. Dan also talks to a licensed professional counselor to get advice on how parents and caregivers can cope with the stress, anxiety and trauma the last year and a half has caused, so that they are looking out for their own well-being in addition to supporting their loved ones with TSC.

First, Dan talked to Lilian Ansari, TSC Alliance Community Programs Resource Advisor (01:13). She gives helpful advice and tips on making decisions about in-person schooling, ensuring that Individualized Education Programs (IEPs) make up for lost learning that may have occurred while students were at home, and how parents can most effectively communicate with their IEP team. Lilian also shares the resources and support available from the TSC Alliance to help parents effectively advocate for their kids in their school system.

You can access all of our School resources here. If you have general school-related questions you can call Shelly Meitzler, Community Program Manager East, at (800) 225-6872 or email her at smeitzler@tscalliance.org.

Then, Dan talks to Latrice Hamilton, a licensed professional counselor at Journey to New Beginnings. With many TSC caregivers feeling the stress and anxiety of the ongoing pandemic in addition to sending kids back to school, Latrice offers some helpful advice on how to manage stress, communicate effectively with loved ones, and ask for help so that parents can make sure they are taking care of their own mental well-being in addition to caring for their loved ones with TSC.

All of the TSC Alliance’s COVID-19 resources can be found at www.tscalliance.org/covid-19. If you need immediate support from the TSC Alliance you can call our emergency hotline 9 am – 9 pm Eastern: (240) 463-7250.

Resources and Links

 

Episode 26: The Road to Newborn Screening in TSC

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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

Episode 25: Lymphangioleiomyomatosis & Worldwide LAM Awareness Month (#WWLAM)

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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

             

Episode 24: Achieving Universal Health Coverage and Driving Innovative Research Through Global Collaboration

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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

Episode 23: Autism Spectrum Disorder in TSC and TACERN

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In Episode 23 of TSC Now, host Dan Klein recognizes World Autism Month and Autism Acceptance Month by learning more about autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC). ASD occurs in nearly 50% of children with TSC, significantly higher the rate in the general population (roughly 1% worldwide). Additionally, there is a very clear link between ASD and cognitive impairment in TSC.

To better understand the connection between autism and TSC, and how ongoing research can help expand our knowledge of autism not just in TSC, but more generally, Dan spoke to Mustafa Sahin, MD, PhD, (02:11) Director of both the Translational Neuroscience Center and the Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and Professor of Neurology at Harvard Medical School. Dr. Sahin is one of the Principal Investigators of the TSC Autism Center of Excellence Research Network, otherwise known as TACERN. TACERN is a coalition of five research hospitals: Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles and University of Texas at Houston. The group was formed in 2012 and received a grant from the NIH to better understand autism in TSC and to identify potential biomarkers that could predict what children were at higher risk of cognitive manifestations. From that initial grant 80 papers have been published on a wide range of discoveries in TSC. Dr. Sahin shares some of the discoveries from the last decade, how discoveries made in autism in TSC have wider implications for autism in general, the current progress on identifying biomarkers, and what questions remain.

Finally, we are officially two weeks away from the Step Forward to Cure TSC® Global Virtual Walk-Run-Ride on May 15 and 16, coinciding with TSC Global Awareness Day. This historic, world-wide event will bring together thousands of people from across the globe, all working together to champion the Tuberous Sclerosis Alliance’s efforts to fund groundbreaking research, offer critically needed support programs and increase awareness. Our goal is to raise $700,000 toward that mission, and there is still time for you to donate, register and fundraise to help us hit that goal. However you participate, your support makes a tangible difference in the lives of everyone with TSC. Learn the many ways you can get involved at www.stepforwardtocuretsc.org. Thank you to both the National and Local sponsors for championing this amazing event!

National Sponsors

Local Sponsors

Resources and Links

Episode 22: Overcoming Hurdles with Health Plans and Specialty Pharmacies

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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

 

This episode was sponsored by:

Episode 20: The 2021 Virtual March on Capitol Hill

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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

Episode 19: Infantile Spasms Awareness Week (#ISAW2020)

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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

Episode 18: Understanding COVID-19’s Impact on Those with TSC & LAM

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In episode 18 of TSC Now, host Dan Klein talks to Nishant Gupta, MD, Associate Professor in the Division of Pulmonology, Critical Care and Sleep Medicine at the University of Cincinnati where he serves as the Director of the Interstitial and Rare Lung Disease Program.

We discuss what researchers and clinicians have learned so far about how COVID-19 impacts those with TSC and LAM, what potential future vaccines mean for those affected, and how individuals with TSC and LAM who have already contracted COVID-19, confirmed by testing, can participate in an important Natural History Database study to help us better understand the risk and severity of the virus.

Learn more about the study here: https://www.tsalliance.org/tsc-matters/have-you-or-your-loved-one-with-tsc-been-diagnosed-with-covid-19-2/. If you or your loved one had COVID-19 confirmed by testing and do not go to one of the TSC Clinics listed or have questions, please contact Jo Anne Nakagawa at jnakagawa@tsalliance.org or 1-800-225-6872.

At the end of the podcast I shared some ways you can support the TS Alliance this holiday season and on #GivingTuesday on December 1. Here are four ways you can get involved:

  1. Create a #GivingTuesday Facebook Fundraiser (We created a guide on how to get started here: http://www.tsalliance.org/wp-content/uploads/2020/11/Giving-Tuesday-Instructions-2020.pdf).
  2. Do your holiday shopping using Amazon Smile (We also have a helpful guide on getting started with Amazon Smile here: http://www.tsalliance.org/wp-content/uploads/2020/10/Setting-up-Amazon-Smile.pdf).

  3.  Make a donation using our #GivingTuesday Page

  4. Follow us on Facebook, Twitter and Instagram and encourage your friends and family to follow us too! And while you’re at it, be sure to subscribe to TSC Now so you don’t miss future episodes.

Finally, December 1-7 is Infantile Spasms Awareness Week (ISAW), to learn more about infantile spasms and ISAW 2020 go to https://infantilespasms.org/.

Resources and Links
Check out all of the TS Alliance’s COVID-19 Resources: https://www.tsalliance.org/individuals-families/covid-19/
Dr. Gupta first shared his recommendations earlier this year during a DEA World Forum Webinar, which you can re-watch here: https://youtu.be/Xwj2PiZ6gik
Dr. Gupta presented an update on COVID-19 and LAM at the first Virtual TSC & LAM Conference in September, watch it now here: https://youtu.be/QmS_dQELzA8 

Episode 17: Gene Therapy in TSC

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In episode 17 of TSC Now, host Dan Klein talks to Xandra Breakefield, PhD, Professor of Neurology at Harvard Medical School and a geneticist, specializing in neurology & tadiology at Massachusetts General Hospital. Dr. Breakefield’s research focuses on gene therapy in preclinical mouse models of TSC in which the TSC1 or TSC2 gene are missing. By introducing the missing gene into the bloodstream via an adeno-associated virus (AAV) vector, Dr. Breakefield has been able to normalize brain structures and extend the lifespan to almost normal length in mouse models of both TSC1 and TSC2. This research was funded in part by grants through the Tuberous Sclerosis Complex Research Program (TSCRP), demonstrating how funds appropriated because of the tireless advocacy during the March on Capitol Hill has meaningfully advanced TSC research. They discuss how AAV vector technology is already being used in other diseases, what are the potential benefits of gene therapy in TSC over current treatment options, and how to transition from ongoing preclinical trials to future clinical trials.

Resources and Links
Read more about Dr. Breakefield’s Research: https://cdmrp.army.mil/tscrp/research_highlights/19breakefield_highlight
Register now for the final Virtual TSC & LAM Conference and view tracks from the previous two: https://www.tsalliance.org/news/join-us-for-the-2020-virtual-tsc-lam-conference-series/
Visit the Virtual Exhibit Hall: https://www.tsalliance.org/virtual-exhibit-hall/
Learn more about a clinical study for individuals with TSC who contracted COVID-19: https://www.tsalliance.org/tsc-matters/have-you-or-your-loved-one-with-tsc-been-diagnosed-with-covid-19-2/

Episode 16: COVID-19 and Back to School

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In episode 16 of TSC Now, host Dan Klein talks to two of the TS Alliance’s Education Parent Mentors to better understand how parents should approach making the decision on sending their kids back to school during the ongoing COVID-19 pandemic and what rights they have to advocate for the services their kids need. This episode is a follow-up to the webinar “COVID-19 and Back to School” led by our education parent mentors earlier this month.

First, Dan talks with Shannon Grandia (01:21), a mother to three kids with TSC and a spouse to an adult with TSC, who volunteers as an Education Parent Mentor, Adult Regional Coordinator and Dependent Adult Transition Resource Coordinator. In addition to her role as a volunteer, Shannon is also a first-grade teacher in California. They discuss the challenges parents and teachers face in California starting the school year virtually, the incredible workload teachers are taking on to provide resources to kids while they are at home to help address regression from the end of the last school year, and how parents and teachers can develop trust through open communication.

Then Dan talks to Shelly Meitzler (26:45), TS Alliance Regional Program Manager East and an Education Parent Mentor in Pennsylvania. They discuss what decisions she made for her family and what was involved in those decisions, how  Individualized Education Programs (IEPs) will look different during the pandemic, and the importance of establishing a paper trail when advocating for your child.

If you are dealing with educational issues and need support please reach out to Dena Hook, Vice President of Support Services at dhook@tsalliance.org so that she can connect you to one of our trained and dedicated education parent mentors.

Thank you to everyone who came out for the Step Forward to Cure TSC National Virtual Walk Run Ride and to the generous sponsors who made the event possible:

You can re-watch all the videos from the weekend and support the Walk-Run-Ride by going to stepforwardtocuretsc.org.

Resources and Links
COVID-19 and Back to School Webinar Recording: https://youtu.be/jp7cJF4boYY
TS Alliance web page on school issues: https://www.tsalliance.org/individuals-families/school-issues/
Local resources to help you connect with local Education Parent Mentors: https://www.tsalliance.org/individuals-families/find-local-resources/

Episode 15: Managing Behaviors During COVID-19 (Part 2) + A New Partnership with SeizureTracker

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In episode 15 of TSC Now, host Dan Klein continues exploring how to manage harmful and disruptive behaviors associated with TSC-associated neuropsychiatric disorders (TAND) during the ongoing COVID-19 pandemic. Then he explores a new partnership between the TS Alliance and SeizureTracker and how it’s advancing both our understanding of TSC and epilepsy.

First, Dan talks with Tanjala Gipson, MD, Director of the TSC-Associated Neuropsychiatric Disorders Clinic at Le Bonheur Children’s Hospital and Director of the Neurodevelopmental Disabilities Clinic at the Boling Center for Disabilities (01:20). She discusses what factors about the pandemic are causing TAND-related behaviors to be more frequent and severe, how parents can begin to address these behaviors, and what parents should do to manage their own anxiety and prepare for an extended period of time at home during the pandemic. She also answers questions from parents about how to deal with sleeplessness, emotional outbursts, and transitioning from one activity to another. See below for more TAND and COVID-related resources.

Then Dan chats with Rob Moss, creator and co-founder of SeizureTracker.com, and Gabrielle Rushing, PhD, Associate Director of Research at the Tuberous Sclerosis Alliance (24:33). They discuss a new data sharing partnership that will allow SeizureTracker users to connect their seizure data with the TS Alliance Natural History Database, how individuals with TSC can participate in the TSC Biosample Repository Project, and the role patients and patient-reported outcomes play in research and our understanding of TSC and epilepsy. They also talk about how SeizureTracker and the Natural History Database and TSC Biosample Repository are moving research forward and how these tools will continue to evolve in the future. Learn more about how you or your loved one can participate in the TSC Biosample Repository Project.

Resources
TS Alliance TAND web page featuring recordings of TAND webinars: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
Managing Anxiety During COVID-19 Webinar Recording: https://www.youtube.com/watch?v=m4rHD0Zhdpc
TS Alliance COVID-19 & TSC Resources: https://www.tsalliance.org/individuals-families/covid-19/
TAND 101: The TAND Checklist Webinar Recording: https://www.youtube.com/watch?v=BXO9MopLg9k&feature=emb_logo

TS Alliance and SeizureTracker Partnership Announcement: https://www.prnewswire.com/news-releases/tuberous-sclerosis-alliance-and-seizure-tracker-partner-to-promote-data-sharing-and-biosample-collection-301079871.html?tc=eml_cleartime
Seizures and Tuberous Sclerosis Complex web page on SeizureTracker.com: https://www.seizuretracker.com/SeizureSuccess/TSC_Tuberous-Sclerosis-Complex/
TSC Biosample Repository and Natural History Database web page: https://www.tsalliance.org/individuals-families/biosample-repository-and-natural-history-database/

Episode 14: Managing Aggressive and Harmful Behaviors During COVID-19 (Part 1)

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In episode 14 of TSC Now, host Dan Klein begins the first of an important two-part discussion focused on how parents can begin to address aggressive and harmful behaviors associated with TSC-associated neuropsychiatric disorders (TAND), while continuing to shelter at home during the ongoing COVID-19 pandemic.

For part one of this conversation, Dan is joined by Nathan Call, PhD, BCBA-D, Clinical Director at the Marcus Autism Center and Associate Professor at Emory University School of Medicine, Department of Pediatrics. They talk about how the pandemic has created a perfect storm of altered routines, restrictions and barriers to specialists that can lead to an increase in the frequency and severity of behaviors. Dr. Call also shares the importance of prioritizing what behaviors to address and being flexible with the uncertainty. Finally, Dr. Call talks about some of the barriers preventing families from getting access to behavioral specialists and medication to manage their kid’s behaviors.

The TS Alliance is always here to provide support to parents who are dealing with challenging behaviors or are in crisis. You can call us toll free at (800) 225-6872. Be sure to also check out our website for more information on TAND.

Resources
TS Alliance TAND web page featuring recordings of TAND webinars: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
How to Manage Disruptive and Harmful Behavior During COVID-19 Interview with Dr. Call courtesy of the Child Neurology Foundation: https://www.youtube.com/watch?time_continue=688&v=m8tL2xad5i8&feature=emb_logo
Webinar on Effective Behavioral Treatments for TSC-Associated Neuropsychiatric Disorders (TAND) Issues in TSC: https://www.youtube.com/watch?v=c5MWX7VEni4&feature=emb_logo

Episode 13: TSC Global Awareness Month in the Age of COVID-19

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In episode 13 of TSC Now, host Dan Klein celebrates TSC Awareness Month and one full year of podcasting by once again reaching out to some of the Tuberous Sclerosis Alliance’s international partners with the help of Katie Smith, TS Alliance Director of Government and Global Affairs, to see how they are recognizing TSC Global Awareness Day on May 15 without being able to meet in person, and how they are supporting those with tuberous sclerosis complex (TSC) and their loved ones during the ongoing COVID-19 pandemic.

First, we speak to Helen Willacy (02:25), President and Co-Founder of TSC NZ in New Zealand. She discusses the unique challenges TSC families face trying to get access to medication, how the pandemic has allowed for expanded use of telemedicine, and how they are connecting with families online. We also talk about how New Zealand was able to stop the spread of the virus quickly and is now beginning to re-open.You can connect with TSC NZ at the links below.

Next, we catch up with Inna Korov and Carol Hoffman of the Tuberous Sclerosis Alliance of Israel (11:48), the TS Alliance’s first global affiliate. They share how physicians have been able to share resources with families via Zoom in Hebrew and how those with TSC have connected and comforted each other through WhatsApp. You can connect with the TS Alliance at the links below.

We finish our world tour by talking to Luke Langlands (20:23), Head of Communications and Engagement at the UK Tuberous Sclerosis Association (UK TSA). He shares the tough, but necessary actions the organization has taken to ensure its long-term existence and allow them to continue to offer critical services to those affected by TSC throughout the UK. He also talks about the incredible response they’ve seen from their online events and how they are preparing for a staggered re-opening in the future. Learn more about UK TSA, the 2020 International TSC Research Conference postponement, and their Outlook meeting at the links below.

The episode concludes by highlighting Ryan and Andrea Beebe (35:28), whose Getting Saucy with Parker B Fundraiser has raised over $50,000 during the TSC Awareness Month of Caring. They share how they came up with the concept for the fundraiser, what have been some of the better reactions of those participating and why they think it has been so successful. There is still time to support their fundraiser and help them smash their goal even more, learn more at the link below.

Resources and Links
TSC NZ Website: https://www.tsc.org.nz/
TSC NZ resources on COVID-19: https://www.tsc.org.nz/post/coronavirus-and-tsc-information-for-the-tsc-community
TSC NZ on Twitter: https://twitter.com/tsc_nz
TSC NZ on Facebook: https://www.facebook.com/TSCNZ/

DEA World Forums: COVID-19 Management & TSC co-hosted with TSC International (TSCi) and the European Tuberous Sclerosis Complex Association (E-TSC): https://www.youtube.com/watch?v=Xwj2PiZ6gik&t=5s
DEA World Forums: How the Consensus Guidelines Improve Treatment and Care for Individuals with TSC co-hosted with TSC International (TSCi) and the European Tuberous Sclerosis Complex Association (E-TSC): https://www.youtube.com/watch?v=-NIgzW8Ucv0&t=3s

TS Alliance of Israel Website: http://tsc.org.il/
TS Alliance of Israel COVID-19 resources, including a recording of their webinar with Dr. Tal Gilboa: http://tsc.org.il/PAGE30.asp
TS Alliance of Israel on Facebook: https://www.facebook.com/groups/tsc.org.il/

UK TSA Website: https://tuberous-sclerosis.org/
Updated Information on the 2020 International TSC Research Conference: https://tuberous-sclerosis.org/for-professionals/2020-conference/
UK TSA COVID-19 resources: https://tuberous-sclerosis.org/news-coronavirus-tsc/
Outlook 2020 Virtual Meeting Session Recordings: https://tuberous-sclerosis.org/outlook-virtual-2020-sessions/
UK TSA on Facebook: https://www.facebook.com/thetsauk
UK TSA on Twitter: https://twitter.com/UKTSA

Getting Saucy With Parker B Fundraiser: https://www.facebook.com/donate/642664029849293/10106189288438264/
Getting Saucy Interview on Delmarva Life: https://www.youtube.com/watch?v=OIuMaHaVQGs&fbclid=IwAR3WFik6v24Rt0ZvKpgsdzr4drBO5mI9OJ89t-QhqMdObdibFUXjS4WnqHg

TSC Awareness Month of Caring Website: https://give.tsalliance.org/campaign/tsc-global-awareness-day-of-caring/c281515

This episode was sponsored by:

   

   

Episode 12: Living with TSC During COVID-19

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In episode 12 of TSC Now, host Dan Klein does a deep dive on the ongoing COVID-19 crisis and its impact on the tuberous sclerosis complex (TSC) community. Throughout the episode he shares resources the Tuberous Sclerosis Alliance (TS Alliance) has developed to support the community during the pandemic, and plays clips from past webinars hosted by the TS Alliance and our partner advocacy organizations. He also interviews two guests to better understand how COVID-19 is affecting both individuals and families and TSC clinics.

First he speaks with Laura Lubbers, PhD (3:50), Chief Scientific Officer at Citizens United for Research in Epilepsy (CURE). Laura’s sister Ellyn is an adult with TSC and was taken to the hospital earlier this month when she developed a fever and later tested positive for COVID-19. Laura shares about what that experience was like and how she helped coordinate Ellyn’s care remotely. Fore more resources from CURE visit: https://www.cureepilepsy.org/for-patients/covid-19-and-epilepsy/.

Next, he speaks to Karen Agricola, MSN, APRN, FNP-BC (21:20), a family nurse practitioner and coordinator at The Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital. She shares how the clinic has adapted care during the pandemic and offers advice on how to stay safe and utilize telemedicine to maintain care. 

Dan closes out the episode by playing a clip of TS Alliance President and CEO Kari Luther Rosbeck (37:30), who introduces our TSC Awareness Month of Caring and shares how you can support the TS Alliance throughout the month of May.

Finally, be sure to join us for our next Virtual Town Hall on Friday, May 1: “Accessibility to Treatments During COVID-19,” co-sponsored by the Dravet Syndrome Foundation, Lennox-Gastaut Syndrome Foundation and Tuberous Sclerosis Alliance. You can register now here: https://zoom.us/meeting/register/tJ0of-ipqT4iE9KhuijP08JP9wL3j-_tmRzO

Resources and Links:

This episode was sponsored by:

       

Episode 11: A #March4TSCresearch Recap & Update on COVID-19

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In episode 11 of TSC Now, host Dan Klein recaps our annual March on Capitol Hill, which took place on March 4, 2020 in Washington, DC and brought together more than 100 volunteers from across the country to advocate for continued funding for the Tuberous Sclerosis Complex Research Program (TSCRP) at the Department of Defense. He then shares resources the TS Alliance has created to address the ongoing Coronavirus (COVID-19) pandemic.

First, Dan talks to Mark Vieth (2:04), Senior Vice President at Cavarocchi Ruscio Dennis Associates, who serves as a consultant for the TS Alliance’s advocacy efforts and helps prepare our volunteers for their meetings with their representatives. They discuss what goes on at the Training Dinner before March on Capitol Hill, what key messages volunteers should bring to their meetings, and why this effort has been so successful over the years.

Next, Dan interviews Bridget Britt (10:54), an advocate and mom from California. She shares why she advocates and how coming to March on Capitol Hill gives her strength and purpose.

Dan then talks to Sam Barth (15:42), a graduate student working in Kim Raab-Graham’s lab at Wake Forest University Medical School. Sam shares how the March on Capitol Hill provides meaningful context for the work he does in the lab and also discusses how the funding his mentor Kim received through the TSCRP helped generate new insights on TSC.

Dan then shares resources the TS Alliance has developed in response to the ongoing COVID-19 pandemic (25:44), including a FAQ guide for parents and caregivers, resources for TSC medical professionals, and a schedule of upcoming webinars, virtual Town Halls and Open Forums. All of these resources can be found at tsalliance.org/COVID-19.

Finally, Dan continues his Get to Know the TS Alliance segment by talking to Justin Martucci (28:40), Development Services Manager at the TS Alliance. They talk about how Justin has spearheaded the TS Alliance database cleanup and transition to new platforms, what he does when he’s not in the office, and how he is managing working from home during the pandemic.

In the April episode of TSC Now, Dan will be diving deeper into how the COVID-19 pandemic is affecting the TSC community and he wants to hear from you! Leave a voicemail at (240) 638-4644 with your first name, where you are calling from and how the pandemic has affected you, and your call may be played on the April episode!

March on Capitol Hill Resources:
For more information on the Tuberous Sclerosis Complex Research Program (TSCRP), visit: https://cdmrp.army.mil/tscrp/default
To read about Dr. Kim Raab-Graham’s research funded by the TSCRP, visit: https://cdmrp.army.mil/tscrp/research_highlights/17graham_highlight
For more information on the TS Alliance’s Government Advocacy Program, visit: https://www.tsalliance.org/engage/government-advocacy/
If you are interested in participating in our government advocacy program, send us an email to grc@tsalliance.org.

COVID-19 Resources:
For all of the TS Alliance’s resources on COVID-19, visit: tsalliance.org/COVID-19
To download a FAQ guide for parents and caregivers, visit: http://www.tsalliance.org/wp-content/uploads/2020/03/COVID-19-FAQ.pdf
For resources for TSC medical professionals, go to: https://www.tsalliance.org/covid-19-resources-for-tsc-medical-professionals/
To see a schedule and register for our upcoming webinars, visit: https://www.tsalliance.org/upcoming-covid-19-and-tsc-webinars-and-virtual-town-halls/
To find recordings of previous webinars, visit: https://www.tsalliance.org/covid-19-webinar-and-virtual-town-hall-recordings/

Episode 10: Expanding Coverage and Ensuring Access to Medications

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In episode 10 of TSC Now, host Dan Klein talks to Darcy Krueger, MD, PhD, TSC Clinic Director at Cincinnati Children’s Hospital. They discuss the recent FDA approval of the Sabril label expansion, the study he led that served as supplemental material for that application, and what this process can teach us about the role of physicians, patients and advocacy organizations play in ensuring access to life-saving medications for people with rare diseases like TSC. Finally, they discuss how the TS Alliance can begin to develop evidence-based standards of care.

Then in a brand new segment, Dan catches up with Shelly Meitzler, TS Alliance Regional Program Manager East. They talk about how she first got involved with the TS Alliance, how she draws strength from supporting other families and individuals affected, and why she is running the 2020 TCS New York City Marathon with Team TSC. The TS Alliance has nine spots available for people interested in running the marathon and fundraising with Team TSC, to learn more and apply visit: https://www.tsalliance.org/Team-TSC/ or email Shelly at smeitzler@tsalliance.org.

Episode 9: The State of the TS Alliance

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In episode 9 of TSC Now, host Dan Klein talks to Tuberous Sclerosis Alliance President and Chief Executive Officer Kari Luther Rosbeck. They discuss her favorite memories from the organization’s 45th anniversary year in 2019, the major goals and initiatives for the organization in 2020, the newest members of the team, and upcoming events at the TS Alliance. Be sure to sign up for the TS Alliance bimonthly e-newsletter, TSC Matters, to stay up-to-date on everything going on at the TS Alliance throughout the year. You can subscribe to TSC Matters at https://www.tsalliance.org/tsc-matters/.

Want to submit a future episode topic for consideration? Send us an email at tscnow@tsalliance.org.

Upcoming Events

  • March on Capitol Hill, TS Alliance Board and Endowment Board Meeting, and Volunteer Leadership Summit – March 3-5, 2020 in Washington, DC.
  • First Step Forward to Cure TSC Walk – Saturday, April 4, 2020 in AZ.
  • Comedy for a Cure 2020 – Sunday, April 5, 2020 in Los Angeles, CA. Learn more: https://tsalliance.schoolauction.net/comedy2020/
  • Sound Bites Minnesota – Friday, May 8, 2020 in Golden Valley, MN.
  • Newborn Screening Workshop – June 2-3, 2020 in Silver Spring, MD.
  • Regional TSC & Lam Conferences (dates tentative and subject to change)
    • June 20, 2020 – Memphis, TN
    • September 26, 2020 – Gainesville, FL
    • October 24, 2020 – Denver, CO

Resources and Links:

Episode 8: Excerpts from AES and the Current State of Epilepsy Research

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In the eighth episode of TSC Now, host Dan Klein catches up with TS Alliance partners at the annual American Epilepsy Society Meeting (AES), the largest gathering on epilepsy in the world, which was held December 6-10 in Baltimore. Seizures remain one of the most common neurological features of TSC, occurring in 85% of individuals with TSC and more than 50% of individuals with TSC who have epilepsy will not respond to standard antiepileptic medications and have intractable epilepsy. Therefore, this meeting was a good opportunity to explore the current state of epilepsy research, what gaps still exist and what’s on the horizon. Continue reading Episode 8: Excerpts from AES and the Current State of Epilepsy Research →

Episode 7: Common Parent/Caregiver Challenges and Advocating for Your Health

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In the seventh episode of TSC Now, host Dan Klein explores common challenges parents, caregivers and those affected by tuberous sclerosis complex (TSC) face when managing their health and seeking care from physicians.

First, he has a conversation with Paul Mullin, MD, Director of Neurology and Epilepsy at Medical Associates of the Hudson Valley (01:22). They discuss the results of a survey conducted by Aquestive Therapeutics on some of the most common challenges parents face when trying to administer medication to children with epilepsy and how new technology can help alleviate some of these challenges. They also talk about what parents and caregivers can do to be proactive in addressing seizures and working with their doctor. Dr. Mullin also shares several online resources where parents can get accurate and reliable information and advice, including the Epilepsy Foundation, the National Organization for Rare Disorders (NORD), the National Institute of Neurological Disorders and Stroke (NINDS) and the LGS Foundation.

Next, Dan talks to Peter Crino, MD, PhD, Professor and Chair of the Department of Neurology at the University of Maryland School of Medicine, Director of the TSC Center of Maryland, and a member of the TS Alliance Board of Directors (20:12). We discuss the process of transitioning a patient with TSC from pediatric to adult care, some of the challenges associated with that transition, and how parents and those affected can start preparing to mitigate those challenges. We also talked about how adults with TSC can best manage their care and Dr. Crino emphasizes the importance of following the Consensus Guidelines for Diagnosis, Surveillance and Management of TSC to ensure that different manifestations of the disease are being monitored and managed appropriately throughout one’s lifetime. Finally, we discuss the role telemedicine may play in expanding access to TSC experts.

This episode was sponsored by:

Resources:

Epilepsy Foundation website: https://www.epilepsy.com/

NORD website: https://rarediseases.org/

NINDS website: https://www.ninds.nih.gov/

LGS Foundation website: https://www.lgsfoundation.org/

TSC Center of Maryland website: https://www.umms.org/ummc/health-services/neurology/services/tuberous-sclerosis

Consensus Guidelines for Surveillance and Treatment: https://www.tsalliance.org/individuals-families/treatment-guidelines/consensus-guidelines-for-diagnosis-surveillance-and-management-of-tsc/

Transition resources: https://www.tsalliance.org/individuals-families/young-adults/

Episode 6: TSC-Associated Neuropsychiatric Disorders (TAND)

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In episode 6 of TSCnow, host Dan Klein talks to Petrus de Vries, MBChB, MRCPsych, PhD, Sue Struengmann Professor of Child and Adolescent Psychiatry at the University of Capetown in South Africa. They discuss tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders, otherwise known as TAND. TAND refers to a whole spectrum of neurological manifestations of TSC, including aggressive behaviors, autism spectrum disorder (ASD), intellectual disabilities, psychiatric disorders, neuropsychological deficits, as well as school and occupational difficulties. Most people with TSC suffer from one or several of these manifestations and it is often one of the most impacting aspect of the disease for both children and adults affected. They talk about the six levels of TAND (behavioral, intellectual, neuropsychological, psychiatric, academic and psychosocial) and the different manifestations people experience within each level. He also talks about the challenges families and caregivers face when seeking treatment for these manifestations.

In response to the growing need of those affected, Dr. de Vries shares how he worked with other experts at the 2012 Consensus Conference to develop the TAND checklist, a tool to help clinicians identify what aspects of TAND a person is struggling with and develop a personal profile for those affected, and the corresponding consensus guidelines for when and how to use the checklist. He also discusses that, while no two people are affected the same and this uniqueness poses significant challenges for diagnosis and intervention, recent research suggests that there are several TAND “clusters” that those affected generally fall into.

Finally, Dr. de Vries discusses the TANDem Project, an international collaboration of families affected by TSC, researchers and clinicians to provide scientific evidence for greater TAND intervention and treatment. The project is being headed by Drs. de Vries and Anna Jansen at UZ Brussels.

To learn more about TAND visit: www.tsalliance.org/tand

To download the TAND Checklist visit: https://bit.ly/2ObP3wn

To learn more about TAND clusters visit: https://www.ncbi.nlm.nih.gov/pubmed/29530301

Learn more about the TANDem project here: https://bit.ly/2MkQyqy

Episode 5: TSC Kidney Manifestations & Consensus Guidelines for Surveillance and Treatment

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In episode 5 of TSC Now, Dan Klein talks to Dr. John Bissler, MD, Clinic Director of the Tuberous Sclerosis Complex Center of Excellence located at Le Bonheur Children’s Hospital, Director of Pediatric Nephrology at the University of Tennessee Health Science Center, and the Medical Director of Nephrology at St. Jude’s Children’s Hospital. They discuss common kidney manifestations of tuberous sclerosis complex (TSC), including renal cysts and renal angiomyolipoma (AML). The majority of individuals (greater than 80%) with TSC will develop some form of renal disease during their lifetime and renal-related disease is the most common cause of TSC-related death in adults, so they discuss the consensus guidelines for surveillance and treatment as it relates to kidney manifestations in TSC. They also discuss ongoing research to discover new treatments for AMLs and renal cysts.

To learn more about the kidney manifestations of TSC visit: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/kidneys/

To read about the general clinical consensus guidelines visit www.tsalliance.org/consensus. You can also read about the specific renal guidelines for TSC at: https://www.ncbi.nlm.nih.gov/pubmed/27504842.

Finally, to read Dr. Bissler’s paper on the reduction of post-embolization syndrome visit: https://www.ncbi.nlm.nih.gov/pubmed/11979340.

Episode 4: Educational Issues in TSC and How to Advocate for Your Child in School

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In the fourth episode of TSC Now, host Dan Klein talks to Lilian Ansari, MS, Special Needs Advocate, Co-Chair of the TS Alliance of Northern California and Education Parent Mentor. They discuss why she volunteered as an Education Parent Mentor, what types of challenges kids with TSC face in the classroom, and what resources and benefits are available to families under the Individuals with Disabilities Education Act. She also shares what advice she gives to parents as they are preparing for an Individualized Education Program (IEP) meeting, including to record the meeting, take time to review the plan and get everything agreed upon in writing. Finally, she encourages others to volunteer as Education Parent Mentors and provide support in their communities.

If your child is having school issues please call Dena Hook, Vice President of Support Services, at (800) 225-6872 or email her at dhook@tsalliance.org. You may fax documents, such as IEP reports or other correspondence, to Dena at (888) 330-1853.

To learn more about school issues visit: https://www.tsalliance.org/individuals-families/school-issues/

To learn more about the Education Parent Mentor Program and to apply visit: https://www.tsalliance.org/engage/volunteer-opportunities/educator-parent-mentor/

Episode 3: The 2019 International TSC Research Conference

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In the third episode of TSC Now, host Dan Klein, Director of Digital Platforms for the Tuberous Sclerosis Alliance, talks to the two co-chairs of the 2019 International TSC Research Conference: Changing the Course of TSC. Continue reading Episode 3: The 2019 International TSC Research Conference →

Episode 2: Epilepsy in TSC and Laser Ablation Surgery with Dr. Daniel Curry

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In the second episode of TSC Now host Dan Klein talks to Dr. Daniel Curry, Director of  Functional Neurosurgery and Epilepsy Surgery at Texas Children’s Hospital in Houston. They discuss how he became a neurosurgeon, the development of laser ablation as a treatment for epilepsy, what parents need to know about the procedure compared to traditional brain surgery and what they should consider before making the decision to get surgery. We end by discussing what Dr. Curry expects to be the next great breakthroughs in the treatment of epilepsy both in TSC and the general public.

To learn more about Texas Children’s Epilepsy Center visit: https://www.texaschildrens.org/departments/epilepsy-center

Episode 1: TSC Global Day, 45th Anniversary and the Future of TSC Research

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Welcome to the debut episode of TSC Now, a podcast from the Tuberous Sclerosis Alliance! In this episode Dan Klein, Director of Digital Platforms, talked to Jennifer Flinn from TS Canada ST, Eva Schoeters from Be-TSC in Belgium, and Rahul Vipparthi from the TS Alliance of India about the challenges they face in their countries, TSC Global Awareness Day and how they are spreading awareness of TSC. He also talked to Kari Luther Rosbeck, President and CEO of the Tuberous Sclerosis Alliance and Chief Scientific Officer Steve Roberds, PhD, about the organization’s 45th anniversary and history, how Unlock the Cure changed the role of the TS Alliance in driving research and what the future holds for TSC research. Finally, Dan talked to Jill Woodworth, host of TSC Talks, about why she started a podcast, what her future plans are for TSC Talks and what she’s learned through the conversations she has had with her guests.

TS Canada ST: https://www.tscanada.ca/

Be-TSC: http://www.betsc.be/

TS Alliance of India: http://tsa-india.org/

To learn more about the Educational Meeting and International TSC Research Conference in Toronto visit: https://www.tsalliance.org/news/the-2019-international-tsc-research-conference-is-june-20-22-in-toronto/

To read about the TANDem Project visit: https://www.tsalliance.org/international-tand-research-project-awarded-funding/

To read the Executive Summary of the Research Business Plan visit: https://www.tsalliance.org/about-us/

To listen to TSC Talks visit: https://www.spreaker.com/show/jill-mccutchan-woodworths-tracks

Send your questions for the Question and Answer episode to tscnow@tsalliance.org.

Welcome to the Home of TSC Now

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TSC Now is the TS Alliance’s podcast series, which features interviews with clinicians, researchers, TS Alliance staff and others on topics like TSC research, epilepsy surgery options, educational advocacy, TSC-associated Neuropsychiatric Disorders (TAND), seizure control and more. Look for new episodes every month and a follow-up question and answer podcast two weeks after the topic episode airs.