What is a “diagnostic odyssey”?

One of the biggest motivators for families to get involved in research is the difficulty of living in uncertainty. While there has been research on the CTCF protein for years, it is not until recently that the clinical features caused by CTCF variants have been studied. We understand that living with uncertainty can bring on a myriad of feelings.

We don’t know your story yet but if its like many other patients, you may have had a hard time reaching a diagnosis. Maybe it took many years and many different types of tests to get an answer. Maybe once you got an answer your doctor hadn’t even heard of CTCF. 

That’s why we are here. We are still in the initial stages of understanding how changes in the CTCF protein affect individuals. Our aim is to help and inform healthcare providers and families in order to reach to a faster diagnosis and create a better and more personalized plan of care for patients.