Epilepsy Neurogenetics Initiative (ENGIN) Patient Stories

Our ENGIN clinic has one of the largest epilepsy neurogenetics teams in the world. Our team of experts includes pediatric neurologists, genetic counselors, and physical and occupational therapists.

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Patient story

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.

Patient story

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).

Patient story

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.

Patient story

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.

Patient story

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.

Patient story

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

Patient story

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.

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Epilepsy Neurogenetics Initiative (ENGIN) Patient Stories

Hyperinsulinism/Hyperammonemia: Daniel’s Story

Lexi’s Story: Specialized Clinical Care for Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

Cate’s Story: Attaining a Genetic Diagnosis With the Help of the Epilepsy Neurogenetics Initiative

Jaxson’s Story: Using Telemedicine to Reach Children With Rare Genetic Epilepsies

Lucy’s Story: Going All In to Cure a Rare Disease

Lauren’s Story: Uncovering the Genes that Cause Epilepsy

Genetic Testing for Epilepsy Helped Ryan Be the Rambunctious Kid He Is Today