Shortening the Diagnostic Odyssey - Child Neurology Foundation

The Child Neurology Foundation believes it is critical to get to a diagnosis sooner so that parents, caregivers, and physicians can begin the process of finding possible treatments and make more informed decisions about next steps in the care of the child.

Why is it important to shortening the diagnostic odyssey?

Here are just a few of those reasons:

400 million people suffer from a rare disease globally – that is greater than the population of the US (1).
The average length of time from symptom onset to an accurate diagnosis is of a rare disease is 5 years (2).
80% of rare diseases are caused by a faulty gene (3).
When CNF survey the child neurology community we learned that while the nearly 75% of caregivers notices the symptoms in the first year, less than half were diagnosed in the first year of those symptoms, and nearly half had at least 1 misdiagnosis. View the results here.

Tools for parents to help shorten the diagnostic odyssey.

Child Neurologist New Visit Toolkit
Genetic Testing handout and webinars
Disorder Directory
Epilepsy Hub
Epilepsy Parent Education Video Series

Resources for Clinicians

View the Shortening the Diagnostic Odyessy in Epilepsy Symposium resources from AES 2022 Symposium (Slides) and Presentation Recording

(1) https://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf – 2 EURORDIS. What is a rare disease? http://www.eurordis.org/about-rare-diseases. Last accessed 20 January 2013.

(2) Engel PA, et al. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. Journal of Rare Disorders 2013: Vol. 1, Issue 2. Available at http://www.journalofraredisorders.com/pub/IssuePDFs/Engel.pdf

(3) Bavisetty S, et al. Emergence of pediatric rare diseases. Rare Diseases 2013, volume 1. Available at: http://www.tandfonline.com/doi/full/10.4161/rdis.23579