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Parents of Pioneers: Real experiences in individualized medicines today

Monday, December 18, 2023 at 12:00 pm ES EST

Julia Vitarello, Mila's Mom, Mila's Miracle Foundation

Julia founded Mila's Miracle Foundation (MMF) in 2016 upon learning that her 6-yr-old daughter, Mila had Batten disease, a fatal genetic condition with no cure. In a race to save Mila, Julia’s collaboration with Dr. Timothy Yu from Boston Children’s Hospital led to the first ever drug tailored to just one person, affectionately named milasen. After showing great promise in the first year of treatment, Mila’s disease slowly progressed. In February 2021, Mila’s big spirit left her little body. Driven by a sense of hope and responsibility, Julia is on a mission to open up the field of individualized medicines for many more. She continues to be a strong voice in rare disease, running MMF alongside her work with the N=1 Collaborative and EveryONE Medicines, both of which she co-founded to help move the field from Mila to Millions.

Mario Schenkel, Valeria’s Dad, Valeria Association

Usually I work as a lawyer in Switzerland. Since Valeria’s Birth (Valentine’s Day 2018), I am working on finding a way to treat Valeria’s disease (mutations on the KCNT1 Gene). Valeria was treated in 2020 with Valeriasen – a knockdown Oligo against the gain of function mutation on the KCNT1 Gene that was designed by the Yu Lab at Harvard Medical School. A collaboration with Yale School of Medicine and Boston Children’s Hospital and many more partners led to Valeria being able to get the her tailormade drug that could help many more children with this terrible disease. Unfortunately, a potential side effect/ wrong dose of the medication went undetected for potentially months and Valeria passed away in September 2021. Valeriasen is still the only treatment for the KCNT1 children at this moment that has the potential to reduce or stop the seizures in children with KCNT1. Monitoring dosing more closely will hopefully lead to extend the trials in a safe way before one of our partners is able to come up with an even more potent and safe Valeriasen 2.0. In the realm of orphan diseases and personalized medicine, navigating uncharted territories sometimes involves embracing the unexpected. Even amidst the challenges and setbacks, these experiences often become crucial stepping stones toward uncovering innovative.

Luke Rosen, Susannah's Dad,

Luke and Sally Rosen founded KIF1A.ORG in 2016 following their daughter's KIF1A diagnosis. Luke is a community leader who drives our collective mission to urgently bring treatment to children living with neurodegenerative diseases. Susannah Rosen began treatment one year ago as an N:1 patient with the n-Lorem Foundation. 

Yiwei She, Leo's Mom, TNPO2 Foundation

Yiwei founded the TNPO2 Foundation after discovering her second child's debilitating genetic disease.  The foundation began a collaborative research project to find scientifically sound medical treatments for such rare and severe diseases, starting with her own child.  Yiwei is dedicated to advancing, accelerating, and making accessible, treatments for all children who are afflicted by rare diseases. 

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