Shortening the Diagnostic Odyssey

Every year, the Child Neurology Foundation’s (CNF) Board of Directors identifies an important Education Initiative that impacts the entire child neurology community. In 2020, this Education Initiative is Shortening the Diagnostic Odyssey and our board has decided to dedicate two years to this topic.

There are many reasons why Shortening the Diagnostic Odyssey was chosen as our 2020 Education Initiative.

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). 

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. 

In the year ahead, CNF will: 

  • Collect data about the journey through diagnosis from families and clinicians. 
  • Hold an educational symposium for clinicians at the Child Neurology Society (CNS) annual meeting. 
  • Create an educational webinar for caregivers and families. 
  • Develop a genetic testing 101 info sheet for caregivers and families 

There are many important steps in the process of coming to a diagnosis, and the first step is for caregivers and doctors to collaborate. The Child Neurology Foundation Annual Symposium at the CNS Annual Meeting will include experts who will discuss the best way for families to monitor and communicate symptoms, as well as how child neurologists can best support children and families through the process of testing, assessments, referral to specialists, genetic counseling, and a treatment plan before, during and after diagnosis. 

We will also educate child neurologists on the tools available to accelerate diagnosis timelines, as well as resources to learn more about rare diseases, treatment guidelines and appropriate referrals. 

As part of our caregiver education, we will help families to have a more complete understanding of things like: the different pieces that go into receiving a diagnosis; what genetic testing means and does not mean; questions to ask their physician about the diagnostic process; and how to interpret answers. 

We’re very excited about this initiative. CNF has listened to our community, and we’ve heard that you want answers, resources, and education. As mentioned above, one of the first steps is getting more data from you – our community. In the months to come, we’ll be sending out a survey for caregivers via our newsletter and social media channels. We hope that you’ll participate so that we can learn how to best serve your needs when it comes to the diagnosis of your children. Even if your child has already received a diagnosis, your input can help other families in the future who are still walking on this journey. 

For more information on our education initiative, or to partner with CNF on this work, please reach out to programs@childneurologyfoundation.org

The 2020 Education Initiative is supported by  

Lead Industry Partners

Lead Advocacy Partners


Believer Industry Partner
  • Neurogene

Activist Partner 

  • Hope for Hypothalamic Hamartomas 

Community Partner 

  • Dravet Syndrome Foundation 

Other Partners: 

  • Autism Science Foundation 
  • Chromosome 9p minus Network 
  • CURE 
  • Cure GRIN Foundation  
  • Danny Did Foundation 
  • Dup15q Alliance  
  • GLUT1 Deficiency Foundation 
  • Hope for Harper 
  • Lennox-Gastaut Syndrome Foundation 
  • PVNH Support & Awareness 
  • SynGAP Research Fund 
  • STXBPI Disorders7 

(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