5/29 - Pontine Tegmental Cap Dysplasia (PTCD)

TTerry and I have both spent hours upon hours scouring the Internet trying to learn more about Leo's diagnosis. We know his brain is not normal....but why?....what can we expect in the years to come? None of his doctors were providing those answers. We believe our Internet searching has paid off. Through Facebook I have found several other families around the world with conditions similar to Leo. These Moms are a huge support system and provide insight into what our lives might be like and how we can make the best of them. I expressed my frustration with Leo's diagnosis...or lack there of in one of my groups and I was encoarged to send Leo's MRI to University of Washington to see if they would be interested in enrolling Leo in an ongoing Hind Brain Malformation research project. When the MRI results from May were ready, I sent them along with a summary I typed up of Leo's life history. Within hours of receiving an email from me, they responded! They asked an odd question about if Leo had bald spots....well no he doesn't. Darn.....but they said give them time to let the experts review the MRI and they would let us know their thoughts. 

Leo's new diagnosis is Pontine tegmental cap dysplasia (PTCD). http://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php

The laundry list of symptoms fit Leo. This diagnosis would have been devastating 6 months ago, but we already knew about these issues with Leo. We have seen them all plus more. 

PTCD is a form of pontocerebellar hypoplasia (PCH). PCH is generally progressive meaning the child's brain deteriorates instead of developing The life expectancy is only early childhood....Our worst fears. Good News....PTCD is one of the few forms of PCH that is not progressive. If Leo only has PTCD we can expect some progress and he should not "lose" any achievements he makes. Most forms of PCH are linked to a single gene mutation inherited from both parents. As of now PTCD is considered a random occurrence without an inherited genetic link but only our whole exome sequencing results will say for sure. There are less than 100 PTCD cases reported world-wide so the research is very limited. We feel fortunate the U of W is making this awful diagnosis a priority in their research. It may never directly benefit Leo but it is already helping us by putting a name with the face of his ugly symptoms.

We will let you know if his new neurologist agrees with this diagnosis in June when we see her. We plan to first hear her explanation before we share what the U of W said so we don't bias her opinion in favor of PTCD.