Tag Archives: infantile spasms

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 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.

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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 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 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 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 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.