Unfortunately there are no clues in the history or examination to make a specific diagnosis. His MRI scan whilst abnormal is not diagnostic. It is reported as showing prominent ventricles as a result of loss of white matter volume and a thin 'featureless' corpus callosum. In addition it was mentioned that the right choroid plexus appears attached to the ventricular margin raising the possibility of in utero hemorrhage or infection. My flu-like illness during pregnancy may be relevant but there was no specific test that can be done to confirm this. The MRI findings are not typical of these seen with more established congenital infection such as CMV or toxoplasmosis.
She is testing his uric acid and an array CGH.
We ask her about B's future and she says that the gap between B and his peers will widen as he gets older and whilst the diagnostic label is global developmental delay, it does not unfortunately imply that children may "catch up". No review appointment.
B's daddy and I leave this appointment like we've been smacked in the face with a baseball bat. This is a lot to take in. We read between the lines and think what she is saying is that we face the prospect that B will always be delayed and will never be normal. She has told us in the nicest possible way but it still hurts. We had been building up to this moment for a long time but it always comes as a shock to receive news like this. You sit in the waiting room sweating and then you sit in their office sweating. It's always hot and I get a bit panicky and bile rises up in my throat. I really wish I could record this conversations and really should make notes because I forget so quickly when I leave the room. You need a medical dictionary and a jargon buster to decipher what they are saying. She hasn't given too much away and I go home and Google.
I Google "thin, featureless corpus callosum" and find out this has a name. It's "Agensis of the Corpus Callosum". I don't understand why the Neurologist didn't just say this. I'm playing Dr Google. The health professionals hate it that I do it but I can't help myself. I want to know everything. B ticks many boxes in the symptoms of a callosum disorder and I can see the similarities.
Wikipedia says "Agenesis of the corpus callosum is caused by disruption to development of the foetal brain between the 3rd and 12th weeks of pregnancy. In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders"
I make a mental note to ask the paediatrician about "agenesis of the corpus callosum" at B's next review.