In Pursuit: A Mother’s Account of Her Son’s Rare Disease Diagnosis Journey

Authors

Anne M. Jones, none (parent of patient)Follow

Publication Date

10-18-2021

Keywords

rare disease, undiagnosed, MAPK8IP3, gene variant

Abstract

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Recommended Citation

Jones AM. In pursuit: a mother’s account of her son’s rare disease diagnosis journey. J Patient Cent Res Rev. 2021;8:360-2. doi: 10.17294/2330-0698.1845