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


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



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



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



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

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

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

National Sponsors

Local Sponsors

Resources and Links


Episode 22: Overcoming Hurdles with Health Plans and Specialty Pharmacies



In Episode 22 of TSC Now, host Dan Klein explores overcoming hurdles in healthcare, specifically to help parents/caregivers and individuals with tuberous sclerosis complex (TSC) navigate issues with access to medications, changes to their health plans and how to best communicate with specialty pharmacies. This episode is sponsored by Greenwich Biosciences.

Disclaimer: Greenwich Biosciences utilized Precision Value and Health’s services to gather and respond to the questions being discussed on this podcast. The opinions expressed are those of the speakers individually based on their experience and do not reflect the policies or positions of the speakers’ employers or of Greenwich Biosciences. The following content is for informational purposes only and does not guarantee access or coverage of any product. 

First, to provide some context on what access challenges can be like for individuals and families, Dan talked to Shelly Meitzler (01:40), TS Alliance Regional Program Manager East and mom to Ashlin and Mason with TSC.  Shelly shares about a recent challenging experience refilling a prescription for Ashlin earlier this year. She talks about where she hit roadblocks, how she felt navigating the insurance and pharmacy system, and how she ultimately got resolution. Her story highlights several common hurdles experienced by many families, including problems when switching insurance plans, not knowing when a prior authorization is required, trying to figure out who your care team is at your pharmacy, and finally dealing with a retail pharmacy versus a specialty pharmacy.

Then, to tackle common questions, some of which were mentioned in Shelly’s story, Dan speaks to two former payers, Hetty Lima and Kellie Rademacher from Precision Value and Health (17:44). Building off of their extensive pharmacy knowledge, Hetty and Kellie answer a number of questions members have when dealing with access issues, such as:

  • What do I need to do if my health plan changes?
  • What do I do when my medication is no longer covered by my insurance plan?
  • How do I navigate having two different health plans?
  • How do I know when a medication requires a prior authorization, step therapy, or has a quantity limit or any other type of rule or edit that could impact access?
  • Where can I find available resources if I need emergency access to my medications?

This conversation builds off of an E-Webinar from earlier this year, Overcoming Hurdles: Insurance, Scripts and Specialty Pharmacy, where Jeff Krol, VP of Market Access & Payer Strategy at Greenwich Biosciences, and Ashley Pounders, MSN, FNP, TS Alliance Director of Medical Affairs, provide useful tips on navigating the complex prescription insurance coverage, scripts and specialty pharmacy. We encourage you to re-watch the recording for more information and resources on this topic.

Finally, if you are at risk of running out of a medication for you or your loved one and need assistance, please contact us on our emergency line: (240) 463-7250. That number is available 9 AM to 9 PM Eastern and someone from our team can help.

Resources and Links

 

This episode was sponsored by: