Hyperinsulinism/Hyperammonemia: Daniel’s Story
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.
Epilepsy Neurogenetics Initiative (ENGIN) Patient Stories
Read stories about patients who have been cared for by the Epilepsy Neurogenetics Initiative (ENGIN).
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Lexi’s story: Specialized clinical care for beta-propeller protein-associated neurodegeneration (BPAN)
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
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
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
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, 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
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.