Finally, A Diagnosis !!!! - Pontine Tegmental Cap Dysplasia

This is just a brief update but I wanted to go ahead let everyone following this blog know about an interesting development today.  After months of exhaustive research online, I sent Eve's MRI images out to two separate doctors who have recently confirmed that she has an extremely rare (and I mean something like 1 in a million) brain disorder that has only recently been classified.  It is called Pontine Tegmental Cap Dysplasia.  Doctors still don't know much about the condition and there is a very large spectrum of possible outcomes so we cannot rely on the existing cases to tell us what Eve's potential is.  There are only about 20 case reports of people with this condition in the medical journals.

They think it is a genetic condition that involves a "de novo" mutation.  This means it is highly unlikely any future children we have would also have this condition!  I am in the process of collecting as many journal articles I can about the disorder.  I am hopeful that having an actual diagnosis might help us figure out better ways to treat her and possibly will enable us to connect with some of the other families of patients with this diagnosis.

Here is a link to a brief explanation of the condition:

http://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php

Athena