Wolfram Syndrome is a rare autosomal recessive genetic disorder. It is a neurodegenerative disorder that attacks the parasympathetic nervous system. Characteristic clinical presentations include juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, depression, anxiety, and progressive neurological difficulties. The prognosis is currently poor. Many patients die prematurely (median age of death being 30 years), with severe neurological disabilities.
Living with Wolfram | Terra Zagone
A look at a noteworthy foundation
Ellie White is a young lady living with this terminal illness. Ellie is devoting her life to spreading awareness of this rare genetic disease in order to help others. Take a look at her foundation!
Ellie White Foundation | Rare Genetic Disorders, Wolfram Syndrome
A look at a leading researcher in the field
Dr. Urano is leading research into a rare disease like no one has ever! Learn about Dr. Urano and his research and clinical work!
Resources:
Wolfram Syndrome – NORD (National Organization for Rare Disorders) (rarediseases.org)
Wolfram Syndrome: Diagnosis, Management, and Treatment | NCBI
Wolfram Syndrome | Cleveland Clinic
Family reflections: our family’s journey with Wolfram syndrome | Nature