TESS Research Foundation

Oh hi, new followers! ?? We are thrilled to have you as part of #TeamTESS! We wanted to re-introduce ourselves and share our origin story with you all. Watch this video to learn all about the Nye family's journey which led to the creation of TESS Research Foundation. ?????? #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness

Research Update! ?? Naomi Dirckx, PhD, recipient of the CURE Epilepsy Rare Epilepsy Partnership Award and the Stevens Family Scholar in SLC13A5 Research, shares an update on her project. ?? Dr. Dirckx is investigating how SLC13A5 mutations affect metabolic processes in the brain. ???? Key findings so far: ? During the first half year of this grant we have focused on the metabolic changes that are happening inside the brains of control and Slc13a5 deficient mice as a model for patients with SLC13A5 epilepsy. ? Data from this experiment showed that crucial neuronal and astrocytic metabolites were significantly altered in the Slc13a5 deficient mouse brains. We even observed a significant decrease in in the ratio of inhibitory over excitatory neurotransmitters, which could contribute to hyperexcitability of neurons, a key characteristic of epileptic activity. ?? Read the full public statement here: https://bit.ly/4hUku9b #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness

Missed our most recent newsletter? ?? Sign up now to receive information about our latest breakthroughs, upcoming events, and stories about our TESS Superheroes straight to your inbox! ?? https://bit.ly/3ubCbcM #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness

What do the clinical symptoms of SLC13A5 Epilepsy look like? ?? How do you confirm SLC13A5 Epilepsy with genetic testing? ?? You can find the answer to these questions on our website! ?? Learn more: https://bit.ly/41qwtV7 #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness

Genetic testing can be helpful in determining the care that your child needs. ?? Probably Genetic has a no-cost genetic testing program for individuals experiencing pediatric-onset seizures or developmental delay. ?? Read more and determine eligibility here: https://bit.ly/3XmTXci #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness #GeneticTesting #ProbablyGenetic

We will be attending ASGCT's Empowering Patients 2025 virtual summit! ?? Can't wait to dive into the latest developments in cell and gene therapy from experts and patient advocates. ?? Who else is attending? ?? Register: https://bit.ly/3PP7HZ6 #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness #ASGCTAdvocacy #ASGCT #TEAMTESS

We love seeing our Founder & Executive Director, Kimberly Lodato Nye, share her story and the mission of TESS! Patients have always been—and will always be—at the heart of SLC13A5 Epilepsy research! ??

SLC13A5 Epilepsy is also known as SLC13A5 Citrate Transporter Disorder. You might be asking yourself, what is citrate? ?? Citrate is a small molecule that is found in many types of food and throughout a person’s body. It is an important part of how a cell makes energy. The protein that moves citrate from outside a cell into the cell is called a citrate transporter. ?? Keep an eye out on our page for more TESS Terminology! ???? #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness #TESSTerminology

Today is Rare Disease Day – a globally coordinated, patient-led movement to raise awareness and advocate for the 300 million people worldwide living with a rare disease. I want to take a moment to highlight two extraordinary women who are making a profound difference in the rare disease community: Kimberly Lodato Nye, a mother of two children living with SLC13A5 Epilepsy, has turned her family's journey into a mission to drive research and support families facing this diagnosis. As the founder and Executive Director of TESS Research Foundation, Kim is leading the charge toward better treatments and ensuring that no TESS family walks this path alone. Misti Staley, CEO of Staley House and creator of FreeArm, has dedicated her career to improving the lives of tube-fed patients and their families. Misti’s son, Freeman, was born with Beals Syndrome (congenital contractural arachnodactyly), a rare genetic disorder that affects connective tissue. After experiencing the heartbreaking loss of Freeman in 2016, Misti transformed her grief into action—creating innovative solutions that make tube feeding easier worldwide. Her work is a testament to resilience, compassion, and the power of innovation to improve healthcare. On Rare Disease Day, let's all recognize the strength of patients, families, and advocates working tirelessly for progress. How can you help? ?? Learn about rare diseases and their impact. ?? Support organizations driving research and advocacy. ?? Amplify patient voices and raise awareness. https://lnkd.in/grPwEdk3 Together, we can make a difference. #RareDiseaseDay #RareButStrong #SLC13A5 #TESSResearchFoundation #BealsSyndrome #StaleyHouse #FreeArm #HealthcareInnovation

Today is #RareDiseaseDay! ?? Join the international awareness-raising campaign for people living with a rare disease and #ShowYourStripes! ?? ?? ?? Learn more ?? rarediseaseday.us We support all children and families affected by SLC13A5 Epilepsy and all rare diseases. ?? Thank you to our community for continuing to spread awareness about rare disease! ?? #TESSResearch #SLC13A5Epilepsy #RareDisease #Epilepsy #EpilepsyAwareness