Tag Archives: tuberous sclerosis complex

Episode 14: Managing Aggressive and Harmful Behaviors During COVID-19 (Part 1)



In episode 14 of TSC Now, host Dan Klein begins the first of an important two-part discussion focused on how parents can begin to address aggressive and harmful behaviors associated with TSC-associated neuropsychiatric disorders (TAND), while continuing to shelter at home during the ongoing COVID-19 pandemic.

For part one of this conversation, Dan is joined by Nathan Call, PhD, BCBA-D, Clinical Director at the Marcus Autism Center and Associate Professor at Emory University School of Medicine, Department of Pediatrics. They talk about how the pandemic has created a perfect storm of altered routines, restrictions and barriers to specialists that can lead to an increase in the frequency and severity of behaviors. Dr. Call also shares the importance of prioritizing what behaviors to address and being flexible with the uncertainty. Finally, Dr. Call talks about some of the barriers preventing families from getting access to behavioral specialists and medication to manage their kid’s behaviors.

The TS Alliance is always here to provide support to parents who are dealing with challenging behaviors or are in crisis. You can call us toll free at (800) 225-6872. Be sure to also check out our website for more information on TAND.

Resources
TS Alliance TAND web page featuring recordings of TAND webinars: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
How to Manage Disruptive and Harmful Behavior During COVID-19 Interview with Dr. Call courtesy of the Child Neurology Foundation: https://www.youtube.com/watch?time_continue=688&v=m8tL2xad5i8&feature=emb_logo
Webinar on Effective Behavioral Treatments for TSC-Associated Neuropsychiatric Disorders (TAND) Issues in TSC: https://www.youtube.com/watch?v=c5MWX7VEni4&feature=emb_logo


Episode 13: TSC Global Awareness Month in the Age of COVID-19



In episode 13 of TSC Now, host Dan Klein celebrates TSC Awareness Month and one full year of podcasting by once again reaching out to some of the Tuberous Sclerosis Alliance’s international partners with the help of Katie Smith, TS Alliance Director of Government and Global Affairs, to see how they are recognizing TSC Global Awareness Day on May 15 without being able to meet in person, and how they are supporting those with tuberous sclerosis complex (TSC) and their loved ones during the ongoing COVID-19 pandemic.

First, we speak to Helen Willacy (02:25), President and Co-Founder of TSC NZ in New Zealand. She discusses the unique challenges TSC families face trying to get access to medication, how the pandemic has allowed for expanded use of telemedicine, and how they are connecting with families online. We also talk about how New Zealand was able to stop the spread of the virus quickly and is now beginning to re-open.You can connect with TSC NZ at the links below.

Next, we catch up with Inna Korov and Carol Hoffman of the Tuberous Sclerosis Alliance of Israel (11:48), the TS Alliance’s first global affiliate. They share how physicians have been able to share resources with families via Zoom in Hebrew and how those with TSC have connected and comforted each other through WhatsApp. You can connect with the TS Alliance at the links below.

We finish our world tour by talking to Luke Langlands (20:23), Head of Communications and Engagement at the UK Tuberous Sclerosis Association (UK TSA). He shares the tough, but necessary actions the organization has taken to ensure its long-term existence and allow them to continue to offer critical services to those affected by TSC throughout the UK. He also talks about the incredible response they’ve seen from their online events and how they are preparing for a staggered re-opening in the future. Learn more about UK TSA, the 2020 International TSC Research Conference postponement, and their Outlook meeting at the links below.

The episode concludes by highlighting Ryan and Andrea Beebe (35:28), whose Getting Saucy with Parker B Fundraiser has raised over $50,000 during the TSC Awareness Month of Caring. They share how they came up with the concept for the fundraiser, what have been some of the better reactions of those participating and why they think it has been so successful. There is still time to support their fundraiser and help them smash their goal even more, learn more at the link below.

Resources and Links
TSC NZ Website: https://www.tsc.org.nz/
TSC NZ resources on COVID-19: https://www.tsc.org.nz/post/coronavirus-and-tsc-information-for-the-tsc-community
TSC NZ on Twitter: https://twitter.com/tsc_nz
TSC NZ on Facebook: https://www.facebook.com/TSCNZ/

DEA World Forums: COVID-19 Management & TSC co-hosted with TSC International (TSCi) and the European Tuberous Sclerosis Complex Association (E-TSC): https://www.youtube.com/watch?v=Xwj2PiZ6gik&t=5s
DEA World Forums: How the Consensus Guidelines Improve Treatment and Care for Individuals with TSC co-hosted with TSC International (TSCi) and the European Tuberous Sclerosis Complex Association (E-TSC): https://www.youtube.com/watch?v=-NIgzW8Ucv0&t=3s

TS Alliance of Israel Website: http://tsc.org.il/
TS Alliance of Israel COVID-19 resources, including a recording of their webinar with Dr. Tal Gilboa: http://tsc.org.il/PAGE30.asp
TS Alliance of Israel on Facebook: https://www.facebook.com/groups/tsc.org.il/

UK TSA Website: https://tuberous-sclerosis.org/
Updated Information on the 2020 International TSC Research Conference: https://tuberous-sclerosis.org/for-professionals/2020-conference/
UK TSA COVID-19 resources: https://tuberous-sclerosis.org/news-coronavirus-tsc/
Outlook 2020 Virtual Meeting Session Recordings: https://tuberous-sclerosis.org/outlook-virtual-2020-sessions/
UK TSA on Facebook: https://www.facebook.com/thetsauk
UK TSA on Twitter: https://twitter.com/UKTSA

Getting Saucy With Parker B Fundraiser: https://www.facebook.com/donate/642664029849293/10106189288438264/
Getting Saucy Interview on Delmarva Life: https://www.youtube.com/watch?v=OIuMaHaVQGs&fbclid=IwAR3WFik6v24Rt0ZvKpgsdzr4drBO5mI9OJ89t-QhqMdObdibFUXjS4WnqHg

TSC Awareness Month of Caring Website: https://give.tsalliance.org/campaign/tsc-global-awareness-day-of-caring/c281515

This episode was sponsored by:

   

   


Episode 12: Living with TSC During COVID-19



In episode 12 of TSC Now, host Dan Klein does a deep dive on the ongoing COVID-19 crisis and its impact on the tuberous sclerosis complex (TSC) community. Throughout the episode he shares resources the Tuberous Sclerosis Alliance (TS Alliance) has developed to support the community during the pandemic, and plays clips from past webinars hosted by the TS Alliance and our partner advocacy organizations. He also interviews two guests to better understand how COVID-19 is affecting both individuals and families and TSC clinics.

First he speaks with Laura Lubbers, PhD (3:50), Chief Scientific Officer at Citizens United for Research in Epilepsy (CURE). Laura’s sister Ellyn is an adult with TSC and was taken to the hospital earlier this month when she developed a fever and later tested positive for COVID-19. Laura shares about what that experience was like and how she helped coordinate Ellyn’s care remotely. Fore more resources from CURE visit: https://www.cureepilepsy.org/for-patients/covid-19-and-epilepsy/.

Next, he speaks to Karen Agricola, MSN, APRN, FNP-BC (21:20), a family nurse practitioner and coordinator at The Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital. She shares how the clinic has adapted care during the pandemic and offers advice on how to stay safe and utilize telemedicine to maintain care. 

Dan closes out the episode by playing a clip of TS Alliance President and CEO Kari Luther Rosbeck (37:30), who introduces our TSC Awareness Month of Caring and shares how you can support the TS Alliance throughout the month of May.

Finally, be sure to join us for our next Virtual Town Hall on Friday, May 1: “Accessibility to Treatments During COVID-19,” co-sponsored by the Dravet Syndrome Foundation, Lennox-Gastaut Syndrome Foundation and Tuberous Sclerosis Alliance. You can register now here: https://zoom.us/meeting/register/tJ0of-ipqT4iE9KhuijP08JP9wL3j-_tmRzO

Resources and Links:

This episode was sponsored by:

       


Episode 11: A #March4TSCresearch Recap & Update on COVID-19



In episode 11 of TSC Now, host Dan Klein recaps our annual March on Capitol Hill, which took place on March 4, 2020 in Washington, DC and brought together more than 100 volunteers from across the country to advocate for continued funding for the Tuberous Sclerosis Complex Research Program (TSCRP) at the Department of Defense. He then shares resources the TS Alliance has created to address the ongoing Coronavirus (COVID-19) pandemic.

First, Dan talks to Mark Vieth (2:04), Senior Vice President at Cavarocchi Ruscio Dennis Associates, who serves as a consultant for the TS Alliance’s advocacy efforts and helps prepare our volunteers for their meetings with their representatives. They discuss what goes on at the Training Dinner before March on Capitol Hill, what key messages volunteers should bring to their meetings, and why this effort has been so successful over the years.

Next, Dan interviews Bridget Britt (10:54), an advocate and mom from California. She shares why she advocates and how coming to March on Capitol Hill gives her strength and purpose.

Dan then talks to Sam Barth (15:42), a graduate student working in Kim Raab-Graham’s lab at Wake Forest University Medical School. Sam shares how the March on Capitol Hill provides meaningful context for the work he does in the lab and also discusses how the funding his mentor Kim received through the TSCRP helped generate new insights on TSC.

Dan then shares resources the TS Alliance has developed in response to the ongoing COVID-19 pandemic (25:44), including a FAQ guide for parents and caregivers, resources for TSC medical professionals, and a schedule of upcoming webinars, virtual Town Halls and Open Forums. All of these resources can be found at tsalliance.org/COVID-19.

Finally, Dan continues his Get to Know the TS Alliance segment by talking to Justin Martucci (28:40), Development Services Manager at the TS Alliance. They talk about how Justin has spearheaded the TS Alliance database cleanup and transition to new platforms, what he does when he’s not in the office, and how he is managing working from home during the pandemic.

In the April episode of TSC Now, Dan will be diving deeper into how the COVID-19 pandemic is affecting the TSC community and he wants to hear from you! Leave a voicemail at (240) 638-4644 with your first name, where you are calling from and how the pandemic has affected you, and your call may be played on the April episode!

March on Capitol Hill Resources:
For more information on the Tuberous Sclerosis Complex Research Program (TSCRP), visit: https://cdmrp.army.mil/tscrp/default
To read about Dr. Kim Raab-Graham’s research funded by the TSCRP, visit: https://cdmrp.army.mil/tscrp/research_highlights/17graham_highlight
For more information on the TS Alliance’s Government Advocacy Program, visit: https://www.tsalliance.org/engage/government-advocacy/
If you are interested in participating in our government advocacy program, send us an email to grc@tsalliance.org.

COVID-19 Resources:
For all of the TS Alliance’s resources on COVID-19, visit: tsalliance.org/COVID-19
To download a FAQ guide for parents and caregivers, visit: http://www.tsalliance.org/wp-content/uploads/2020/03/COVID-19-FAQ.pdf
For resources for TSC medical professionals, go to: https://www.tsalliance.org/covid-19-resources-for-tsc-medical-professionals/
To see a schedule and register for our upcoming webinars, visit: https://www.tsalliance.org/upcoming-covid-19-and-tsc-webinars-and-virtual-town-halls/
To find recordings of previous webinars, visit: https://www.tsalliance.org/covid-19-webinar-and-virtual-town-hall-recordings/


Episode 10: Expanding Coverage and Ensuring Access to Medications



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.


Episode 9: The State of the TS Alliance



In episode 9 of TSC Now, host Dan Klein talks to Tuberous Sclerosis Alliance President and Chief Executive Officer Kari Luther Rosbeck. They discuss her favorite memories from the organization’s 45th anniversary year in 2019, the major goals and initiatives for the organization in 2020, the newest members of the team, and upcoming events at the TS Alliance. Be sure to sign up for the TS Alliance bimonthly e-newsletter, TSC Matters, to stay up-to-date on everything going on at the TS Alliance throughout the year. You can subscribe to TSC Matters at https://www.tsalliance.org/tsc-matters/.

Want to submit a future episode topic for consideration? Send us an email at tscnow@tsalliance.org.

Upcoming Events

  • March on Capitol Hill, TS Alliance Board and Endowment Board Meeting, and Volunteer Leadership Summit – March 3-5, 2020 in Washington, DC.
  • First Step Forward to Cure TSC Walk – Saturday, April 4, 2020 in AZ.
  • Comedy for a Cure 2020 – Sunday, April 5, 2020 in Los Angeles, CA. Learn more: https://tsalliance.schoolauction.net/comedy2020/
  • Sound Bites Minnesota – Friday, May 8, 2020 in Golden Valley, MN.
  • Newborn Screening Workshop – June 2-3, 2020 in Silver Spring, MD.
  • Regional TSC & Lam Conferences (dates tentative and subject to change)
    • June 20, 2020 – Memphis, TN
    • September 26, 2020 – Gainesville, FL
    • October 24, 2020 – Denver, CO

Resources and Links:


Episode 8: Excerpts from AES and the Current State of Epilepsy Research



In the eighth episode of TSC Now, host Dan Klein catches up with TS Alliance partners at the annual American Epilepsy Society Meeting (AES), the largest gathering on epilepsy in the world, which was held December 6-10 in Baltimore. Seizures remain one of the most common neurological features of TSC, occurring in 85% of individuals with TSC and more than 50% of individuals with TSC who have epilepsy will not respond to standard antiepileptic medications and have intractable epilepsy. Therefore, this meeting was a good opportunity to explore the current state of epilepsy research, what gaps still exist and what’s on the horizon. Continue reading Episode 8: Excerpts from AES and the Current State of Epilepsy Research


Episode 7: Common Parent/Caregiver Challenges and Advocating for Your Health



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 6: TSC-Associated Neuropsychiatric Disorders (TAND)



In episode 6 of TSCnow, host Dan Klein talks to Petrus de Vries, MBChB, MRCPsych, PhD, Sue Struengmann Professor of Child and Adolescent Psychiatry at the University of Capetown in South Africa. They discuss tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders, otherwise known as TAND. TAND refers to a whole spectrum of neurological manifestations of TSC, including aggressive behaviors, autism spectrum disorder (ASD), intellectual disabilities, psychiatric disorders, neuropsychological deficits, as well as school and occupational difficulties. Most people with TSC suffer from one or several of these manifestations and it is often one of the most impacting aspect of the disease for both children and adults affected. They talk about the six levels of TAND (behavioral, intellectual, neuropsychological, psychiatric, academic and psychosocial) and the different manifestations people experience within each level. He also talks about the challenges families and caregivers face when seeking treatment for these manifestations.

In response to the growing need of those affected, Dr. de Vries shares how he worked with other experts at the 2012 Consensus Conference to develop the TAND checklist, a tool to help clinicians identify what aspects of TAND a person is struggling with and develop a personal profile for those affected, and the corresponding consensus guidelines for when and how to use the checklist. He also discusses that, while no two people are affected the same and this uniqueness poses significant challenges for diagnosis and intervention, recent research suggests that there are several TAND “clusters” that those affected generally fall into.

Finally, Dr. de Vries discusses the TANDem Project, an international collaboration of families affected by TSC, researchers and clinicians to provide scientific evidence for greater TAND intervention and treatment. The project is being headed by Drs. de Vries and Anna Jansen at UZ Brussels.

To learn more about TAND visit: www.tsalliance.org/tand

To download the TAND Checklist visit: https://bit.ly/2ObP3wn

To learn more about TAND clusters visit: https://www.ncbi.nlm.nih.gov/pubmed/29530301

Learn more about the TANDem project here: https://bit.ly/2MkQyqy


Episode 5: TSC Kidney Manifestations & Consensus Guidelines for Surveillance and Treatment



In episode 5 of TSC Now, Dan Klein talks to Dr. John Bissler, MD, Clinic Director of the Tuberous Sclerosis Complex Center of Excellence located at Le Bonheur Children’s Hospital, Director of Pediatric Nephrology at the University of Tennessee Health Science Center, and the Medical Director of Nephrology at St. Jude’s Children’s Hospital. They discuss common kidney manifestations of tuberous sclerosis complex (TSC), including renal cysts and renal angiomyolipoma (AML). The majority of individuals (greater than 80%) with TSC will develop some form of renal disease during their lifetime and renal-related disease is the most common cause of TSC-related death in adults, so they discuss the consensus guidelines for surveillance and treatment as it relates to kidney manifestations in TSC. They also discuss ongoing research to discover new treatments for AMLs and renal cysts.

To learn more about the kidney manifestations of TSC visit: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/kidneys/

To read about the general clinical consensus guidelines visit www.tsalliance.org/consensus. You can also read about the specific renal guidelines for TSC at: https://www.ncbi.nlm.nih.gov/pubmed/27504842.

Finally, to read Dr. Bissler’s paper on the reduction of post-embolization syndrome visit: https://www.ncbi.nlm.nih.gov/pubmed/11979340.