Tag Archives: TS Alliance

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 22: Overcoming Hurdles with Health Plans and Specialty Pharmacies

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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:

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 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 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 15: Managing Behaviors During COVID-19 (Part 2) + A New Partnership with SeizureTracker

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In episode 15 of TSC Now, host Dan Klein continues exploring how to manage harmful and disruptive behaviors associated with TSC-associated neuropsychiatric disorders (TAND) during the ongoing COVID-19 pandemic. Then he explores a new partnership between the TS Alliance and SeizureTracker and how it’s advancing both our understanding of TSC and epilepsy.

First, Dan talks with Tanjala Gipson, MD, Director of the TSC-Associated Neuropsychiatric Disorders Clinic at Le Bonheur Children’s Hospital and Director of the Neurodevelopmental Disabilities Clinic at the Boling Center for Disabilities (01:20). She discusses what factors about the pandemic are causing TAND-related behaviors to be more frequent and severe, how parents can begin to address these behaviors, and what parents should do to manage their own anxiety and prepare for an extended period of time at home during the pandemic. She also answers questions from parents about how to deal with sleeplessness, emotional outbursts, and transitioning from one activity to another. See below for more TAND and COVID-related resources.

Then Dan chats with Rob Moss, creator and co-founder of SeizureTracker.com, and Gabrielle Rushing, PhD, Associate Director of Research at the Tuberous Sclerosis Alliance (24:33). They discuss a new data sharing partnership that will allow SeizureTracker users to connect their seizure data with the TS Alliance Natural History Database, how individuals with TSC can participate in the TSC Biosample Repository Project, and the role patients and patient-reported outcomes play in research and our understanding of TSC and epilepsy. They also talk about how SeizureTracker and the Natural History Database and TSC Biosample Repository are moving research forward and how these tools will continue to evolve in the future. Learn more about how you or your loved one can participate in the TSC Biosample Repository Project.

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/
Managing Anxiety During COVID-19 Webinar Recording: https://www.youtube.com/watch?v=m4rHD0Zhdpc
TS Alliance COVID-19 & TSC Resources: https://www.tsalliance.org/individuals-families/covid-19/
TAND 101: The TAND Checklist Webinar Recording: https://www.youtube.com/watch?v=BXO9MopLg9k&feature=emb_logo

TS Alliance and SeizureTracker Partnership Announcement: https://www.prnewswire.com/news-releases/tuberous-sclerosis-alliance-and-seizure-tracker-partner-to-promote-data-sharing-and-biosample-collection-301079871.html?tc=eml_cleartime
Seizures and Tuberous Sclerosis Complex web page on SeizureTracker.com: https://www.seizuretracker.com/SeizureSuccess/TSC_Tuberous-Sclerosis-Complex/
TSC Biosample Repository and Natural History Database web page: https://www.tsalliance.org/individuals-families/biosample-repository-and-natural-history-database/

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

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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

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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

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

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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

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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 6: TSC-Associated Neuropsychiatric Disorders (TAND)

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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 4: Educational Issues in TSC and How to Advocate for Your Child in School

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In the fourth episode of TSC Now, host Dan Klein talks to Lilian Ansari, MS, Special Needs Advocate, Co-Chair of the TS Alliance of Northern California and Education Parent Mentor. They discuss why she volunteered as an Education Parent Mentor, what types of challenges kids with TSC face in the classroom, and what resources and benefits are available to families under the Individuals with Disabilities Education Act. She also shares what advice she gives to parents as they are preparing for an Individualized Education Program (IEP) meeting, including to record the meeting, take time to review the plan and get everything agreed upon in writing. Finally, she encourages others to volunteer as Education Parent Mentors and provide support in their communities.

If your child is having school issues please call Dena Hook, Vice President of Support Services, at (800) 225-6872 or email her at dhook@tsalliance.org. You may fax documents, such as IEP reports or other correspondence, to Dena at (888) 330-1853.

To learn more about school issues visit: https://www.tsalliance.org/individuals-families/school-issues/

To learn more about the Education Parent Mentor Program and to apply visit: https://www.tsalliance.org/engage/volunteer-opportunities/educator-parent-mentor/

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 →