Category Archives: Episodes

Episode 36: TSC Awareness Month



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!

Resources and Links

This podcast is sponsored by:


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



In this episode of TSC Now, host Dan Klein recognizes World Autism Month by taking a 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



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 events 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 Lis 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 32: The 2022 World TSC Conference



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 hereAll applications are due by March 1, 2022.

Resources and Links:


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



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



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



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!



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



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



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