Epilepsy Neurogenetics Initiative (ENGIN) Patient Stories
1 - 7 of 7
Hyperinsulinism/Hyperammonemia: Daniel’s Story
![Daniel Cochran Daniel Cochran](https://www.chop.edu/sites/default/files/styles/teaser/public/hyperinsulinism-hyperammonemia-daniels-story-16x9.jpg?itok=IKTdA17y)
Much has been learned about hyperinsulinism/hyperammonemia since Daniel first had severe low blood sugar as a baby. A new clinic as CHOP can help improve symptoms.
Lexi’s Story: Specialized Clinical Care for Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
![Lexi Lexi](https://www.chop.edu/sites/default/files/styles/teaser/public/bpan-patient-lexi-16x9.jpg?itok=NpDcJADu)
Genetic testing determined that Lexi had a very rare genetic disorder known as beta-propeller protein-associated neurodegeneration (BPAN).
Cate’s Story: Attaining a Genetic Diagnosis With the Help of the Epilepsy Neurogenetics Initiative
![Cate smiling in her graduation gown Cate smiling in her graduation gown](https://www.chop.edu/sites/default/files/styles/teaser/public/ENGIN-patient-cate-16x9.jpg?itok=xi-HJM5T)
Learning a genetic diagnosis has enabled one family to connect and share their own wisdom and experience with families of children with the same diagnosis.
Jaxson’s Story: Using Telemedicine to Reach Children With Rare Genetic Epilepsies
![Jaxson smiling Jaxson smiling](https://www.chop.edu/sites/default/files/styles/teaser/public/epilepsy-patient-jaxson-16x9.jpg?itok=NgZV2VGn)
Telehealth has allowed Jaxson, 3, and his family to stay connected with the Epilepsy Neurogenetics Initiative (ENGIN) from the comfort of their home during the COVID-19 pandemic.
Lucy’s Story: Going All In to Cure a Rare Disease
![Lucy smiling Lucy smiling](https://www.chop.edu/sites/default/files/styles/teaser/public/lucy-epilepsy-neurogenetics-320x180.jpg?itok=sXAo9oWd)
Genetic testing helped Lucy's family identify a potential treatment for her seizures, which enabled her family and the ENGIN team to tackle her rare disease.
Lauren’s Story: Uncovering the Genes that Cause Epilepsy
![Lauren Ballroom Dancing ballroom dancing](https://www.chop.edu/sites/default/files/styles/teaser/public/lauren-patient-story-16x9.jpg?itok=FsBrEfel)
Lauren, who was named Miss Wheelchair New York 2020, is participating in research at CHOP for a rare form of epilepsy
Genetic Testing for Epilepsy Helped Ryan Be the Rambunctious Kid He Is Today
![Ryan Ryan](https://www.chop.edu/sites/default/files/styles/teaser/public/ryan-patient-story-16x9.jpg?itok=QW8xFqFj)
After years of uncertainty, genetic testing for epilepsy helped identify the cause of Ryan’s seizures. With this breakthrough, he’s now nearly seizure free.