two sweet sisters battling one ultra-rare disease
Emma and Abby
Emma is a 4 year old little girl who loves music and being around her peers. But she can't walk, or talk, and she has many seizures every day.
Abby is a 2 year old little girl who is feisty...screaming for attention one minute and giving the biggest cheesy grin the next. But she can't hold her head up, she hasn't said her first word, and her seizures make her stop breathing.
The Gillaspie Sisters are the first and only patients IN THE WORLD to live with
THAP12 Genetic Disease
This disease is causing Seizures, Severe Developmental Delays, and is robbing these sisters of a healthy, care-free childhood
We are racing against time to find a treatment!
To raise awareness, advance scientific research through fundraising and advocacy, and find a cure for diseases caused from mutations in the THAP12 gene ultimately transforming the lives of those affected.
Our first daughter Emma started having seizures three months after birth. No cause was found through any testing. After our second daughter, Abby, also started having seizures 6 weeks after birth, a deep dive into a whole genome sequence revealed a novel disease-causing gene, THAP12. This gene was a guess, there was nothing known about it, and it was recommended to "wait for science to catch up". Instead, The Lightning and Love foundation was created to research this disease, and to help lay the groundwork for any novel genetic condition that deserves a treatment…that deserves hope. Catch up on our full story here:
THAP12 has never been associated with disease before, and therefore immense research is needed to understand how it works in the body, and why mutations on this gene lead to such extreme symptoms.
Lightning and Love foundation has funded multiple Zebrafish Models, Mice models, Cell Models, and is forming a range of scientific research partnerships to quickly and efficiently take steps to finding a treatment.
If you would like to discuss contributing to THAP12 research, we are always interested in building partnerships.
Reach out to:
Learn more about THAP12, related research, and our available models here:
Through Social Media, Podcasts, an active Blog, and a variety Media and News outlets, we strive to spread awareness for THAP12 disease, and for ALL ultra-rare genetic diseases.
We hope our experience can create a blueprint for any novel genetic diagnosis affecting extremely small patient populations. We are working to lay the groundwork so that future families - despite financial situation, geographical location, or educational background - have an equal opportunity at finding a cure.
Follow our advocacy efforts here: