The story of Mariah
Emma and Abby are two sisters that share more than just a sibling bond, they also share an ultra-rare disease; one that has never been seen before. These young sisters are the first two cases in the world to have disease associated with a gene called THAP12. This disease has left them battling seizures and visual impairment, difficulties eating and G-tube dependence, the inability to walk or talk, and a developmental age level of 0-3 months old. But despite their struggles, these sisters are happy and loving…and their lives are going change the world with the discovery of a brand new genetic disease.
After doctor after doctor told the family there was nothing to be done, there was nothing known about this gene and almost nothing written about it in literature, the Gillaspie family decided to take research into their own hands. They started the Lightning and Love foundation and almost 4 years after seeing Emma’s first seizure, they got to witness a genetically-engineered Zebrafish having seizures. This is the first breakthrough into understanding this disease. And while there is still a huge mountain to climb, the family is determined to do everything they can to drive research on their mission to cure their daughters. As the family likes to say, “Lightning may have struck twice, but love with surpass all”.
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