Cockayne Syndrome: Diagnosis, Types, and Care Manuals for Families and Medical Professionals
Here you will find information about CS, how it is diagnosed, and care manuals created by the National Initiave for Cockayne Syndrome. These care manuals were created in 2021 by health professional that have managed CS and families affected by CS. They have been immensely helpful in providing the best possible care for Ronin. If you have a family member with CS, we highly recommend these manuals. Growth charts can be found here, too. Children with CS do not follow the same growth trajectory as children without CS. This chart was also created in 2021.
The Basics and a bit of history
Cockayne Syndrome (CS) is a rare genetic disorder that involves an interruption in the way cells grow and repair themselves. The abnormal gene is also known to be involved in DNA repair after UV exposure (so children with this disorder NEED to be protected from sunlight). Because our entire body, every system is created by cells, CS can impact every and any part of the body. There are some common symptoms in all children with this disease, but the severity widely varies.
​​​​
CS was first discovered by Edward Cockayne, a London Physician, in 1936.
Upon further research, CS became separated into three types. Since then,
the disease has been viewed more so on a continuum. ​
Dr.Edward Cockayne
A Brief Overview of CS
From Instagram: @RoninMeansWarrior
CSA and CSB: What's the difference?
Types: Again, what's the difference?
These are explained in this 12-minute video (apologies for the length)
Caregiving for CS takes a village...
... A village comprised of several medical specialists, physical, occupational, and speech therapists, special education teachers, and family support. Below you will find helpful resources to monitor growth and ensure your child has the best "village" caring for them.
Click on any of the below icons below for more information about CS diagnosis, symptoms, and care management
