An Ultra-rare Disease? Where Do We Go from Here?

Tremor and Other Hyperkinetic Movements

article

Glenn Irvine¹  Ginger Irvine¹ 

[1] Advocacy for Neuroacanthocytosis Patients

关键词: Patient advocacy;    neuroacanthocytosis;    rare disease;   

DOI  :  10.5334/tohm.172

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

When people are diagnosed with rare, incurable disorders, they and their families suffer both from the disease itself and from the lack of information and resources available. They become acutely aware that research can only be conducted when it is funded. This article presents our experiences following the diagnosis of our daughter with chorea-acanthocytosis, and describes how we established a not-for-profit organization to fund and facilitate research into this rare disease. Personal relationships with clinicians and scientists, and with friends who were willing to help, have played an essential part in moving the field of neuroacanthocytosis research forward.

【 授权许可】

CC BY