Saving Savannah's Smile: SMC1A Treatment

Savannah is a bright and resilient litte girl who radiates joy despite facing the challenges of SMC1A Developmental Epileptic Encephalopathy, an extremely rare and progressive disease. She possesses a unique genetic mutation, making her the only individual in the world with her specific genetic mutation. With only 41 documented cases worldwide, the rarity of her disease poses significant obstacles in finding suitable treatment options. Savannah's disease manifests in severe life-threatening seizures and developmental regression, impacting every aspect of her life.

Over the past two years, Savannah's seizures have intensified, leading to a decline in her language and motor skills. Her frequent hospitalizations, in the PICU at Cincinnati Children's, underscore the urgent need for an effective intervention to address her disease. While SMC1A DEE is progressive, it is not neurodegenerative, the key to halting its progression lies in controlling her seizures. Evidence suggests that with improved seizure management, Savannah has the potential to regain lost developmental milestones. However, current FDA-approved seizure medications have proven ineffective in her case.

A personalized drug repurposing analysis offers a promising avenue for identifying a tailored treatment approach for Savannah. By screening 40,000 molecules against her unique genetic mutation, this analysis aims to pinpoint potential compounds capable of rescuing her missing SMC1A protein. Remarkably, a simple medication like a heartburn drug could hold the key to stopping her seizures, as demonstrated by a similar case where a little boy's seizures ceased after starting Prevacid.

Rareshift, a leading biotech company, has proposed conducting this crucial drug repurposing analysis for Savannah. The path to securing this life-changing analysis for Savannah is clear but requires financial support. A fundraising goal of $25,000 and a 12-week timeline stand between Savannah and the potential treatment that could transform her life. Your contribution, whether through donations or by sharing her story, can play a crucial role in paving the way for a brighter tomorrow for Savannah!

If you are unable to donate, spreading the word and sharing her story can also make a significant impact. Thank you for being a part of Savannah's journey and for shining a light of hope in her path.

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