Tag Archives: TSC Alliance

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:

Sponsored by:

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

This episode is sponsored by:

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.

Links and Resources

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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.

This podcast is sponsored by:

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 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.

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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.

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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.

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