About Recessive THAP12 Genetic Epilepsy
Lightning and Love Foundation was created specifically to support Recessive THAP12 genetic epilepsy. This gene was discovered in 2020 and affects only two known people in the world so far. Both patients began having Infantile Spasms before 3 months of age along with focal epilepsy presenting as apneic episodes. One patient progressed to Lennox-Gastaut Syndrome. Both patients have severe developmental delays, low muscle tone, feeding difficulties, and cortical visual impairment. There are no known treatments and AED's are used to lessen seizure symptoms.
THAP12 Genetic Epilepsy Clinical Features
The primary features of THAP12 genetic disease are seizures, specifically Infantile Spasms and Apneic Focal Epilepsy. Along with intractable seizures, this severe genetic disease presents with hypotonia, feeding difficulties with g-tube dependence, extreme developmental delays, and cortical visual impairment. Both known patients with this disease are working on head control, do not have purposeful limb movement, and require help in all areas of life.
Get to Know Lightning and Love Foundation
Lightning and Love Foundation was inspired by Emma and Abby, the only two known patients in the world to live with THAP12 genetic disease, and was created by their mom, Mariah Gillaspie in June of 2020. The mission of the foundation is to drive research and awareness of THAP12 disease, and to advocate for all (ultra) ultra-rare diseases that often are underrepresented and underserved. The foundation aims to bring HOPE to diseases currently too rare or new to help.
I am Especially Proud of...
The Lightning and Love Foundation is proud that within its first year of creation and with extremely limited funding, they were able to build multiple animal models, create cell models, partner with both academia and Public Benefit Companies, and build up an international team committed to the mission. Persistence and flexibility allowed the organization to utilize a range of resources keeping cost minimal, and passion inspired the sense of urgency and commitment. The foundation hopes to share its experience so that other organizations can make use of learnings for their own cause.
Excited to REN Because...
While the Lightning and Love Foundation represents a disease affecting only two patients in the world, the world of ultra-rare disease has many commonalities across genes. By putting our heads together we can move from treating one genetic condition at a time, to building knowledge that will allow for generic understanding and steps forward towards treatment of any genetic condition. The Lightning and Love Foundation is proud to be a member of REN where we can share our learning and experiences with others, and build our own knowledge base by hearing from others. Together we can make BIG progress!
My Journey and Motivation...
I am first a foremost a Mom. Emma and Abby came into my life and flipped it upside down in all the best ways. They have taught me unconditional love and patience, and that I have the strength to fight like a mother to give them the best life possible. And through that, they have given me a new purpose in life...to fight for those who live with diseases so rare they have nowhere to turn for help. I truly believe in this day and age we have the ability to fight for ALL genetic diseases, not just those with funding and large patient communities. I will continue to spread HOPE for no disease left behind. My daughters deserve to have hope, as do so many other children living with devastating ultra-rare disease.
By Mariah Gillaspie - Founder and President of Lightning and Love