Tag Archives: rare disease

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.

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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 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 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 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 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 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 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 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 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 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 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.