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The Reproductive Health Initiative is vital to this TSC community for many reasons but most especially due to limited data around pregnancy & perinatal healthcare. My belief is the RPH will promote healthy pregnancy outcomes with multidisciplinary collaboration & community outreach. Our role in rare disease is advocacy & progress. Here we go!”

Danielle Clark, MPH, RD, Adult Resource Lead

 

The Reproductive and Perinatal Health (RPH) Initiative focuses on identifying key priorities associated with maternal fetal pregnancy-related complications in TSC and establishing recommendations for reproductive and perinatal care.  Although pediatric and adult surveillance and management recommendations exist for TSC, there is a lack of consistency and paucity of evidence-based data to provide recommendations and surveillance of women with TSC and/or LAM during pregnancy.  

A workshop held in March 2024 in Memphis, TN, brought together a committed group of clinical experts in maternal-fetal medicine, epileptology, genetics, nephrology and others to discuss published organ-specific risks associated with TSC/LAM in pregnancy. The meeting highlighted gaps in current research with a focus on the need to develop data-driven and expert-informed recommendations to guide clinical care. The group was separated into two Task Force teams based on areas of interest and expertise – Reproductive or Perinatal.  

The insights gained from this effort marked a critical step toward advancing research and clinical guidance for women with TSC/LAM during pregnancy bringing together experts across multiple disciplines. The TSC Alliance RPH Taskforce will continue progress towards developing evidence-based recommendations to enhance care and empower people with TSC to make informed reproductive health decisions. 

One important aspect of the RPH initiative is to learn about a woman’s experience with TSC before and during pregnancy through a series of short surveys. These surveys capture real-world experiences to provide a road map to better inform and educate the community and healthcare providers about TSC reproductive care. 

Community Surveys

RPH Preconception Survey

  • If you are a woman or a caretaker of a woman with TSC between the ages of 18 and 59 living in the US or Canada, please complete this short 10-minute survey to help us improve information provided to women with TSC.The survey is for women who have been pregnant, are currently pregnant, or have ever considered a pregnancy. Access the survey here.

Steps of the RPH Initiative

Created in https://BioRender.com

 

For questions about the RPH program or to sign up to receive additional information about upcoming reproductive and perinatal programs, please email RPH@tscalliance.org 

The RPH Initiative is also seeking biosamples from mothers and babies with TSC (e.g., cord blood, newborn dry blood spots, whole blood) to contribute to the TSC Natural History Database & Biosample Repository. These samples will be used to address unanswered questions on TSC during the pregnancy and perinatal periods. If you are mother with TSC and/or expecting a baby with TSC and are interested in providing a sample for this effort, please consider enrolling to the TSC Natural History Database & Biosample Repository by emailing biosample@tscalliance.org. 

The RPH initiative is made possible thanks to the generous support from the Samuels Family Foundation. 

TSC Alliance RPH Taskforce Members

Reproductive Team

Co-Leaders

Lara Friel, MD, PhD, UT Health Houston

Lyndsay Harshman, MD, University of Iowa

Heather Radtke, MS, CGC, TSC Alliance

Core Team

Derek Bauer, MD, University of Rochester Medical Center

Mark Keezer, BA, BSc, MSc, MDCM, CSCN Diplomate (EEG), PhD, Université de Montréal Hospital Centre (CHUM)

Joel Moss, MD, PhD, National Institutes of Health

Kate Richardson, MS, CGC, UT Health Houston

Elizabeth Cassidy, MPH, TSC Alliance

Ayat Abi, TSC Alliance

Perinatal Team

Co-Leaders

Sarah Weatherspoon, MD, LeBonheur Children’s Hospital 

Stephanie Randle, MD, Seattle Children’s Hospital

Heather Radtke, MS, CGC, TSC Alliance

Core Team

Rebecca Beroukhim, MD, Boston Children’s Hospital 

Asim Choudhri, MD, LeBonheur Children’s Hospital 

David Ritter, MD, PhD, Cincinnati Children’s Hospital

Mustafa Sahin, MD, PhD, Boston Children’s Hospital 

Elizabeth Talley, MD, Stanford University

Elizabeth Cassidy, MPH, TSC Alliance

Ayat Abi, TSC Alliance