(I admit, with exhaustion as an excuse, this is a cheat, I copied my email update and simply and lazily posted it here. If you got the email, please don't feel cheated or unloved. It doesn't make the blog any less important than the email!!!) 8o)
We had a very successful trip to Boston, although are a bit tired, we got back at 3:00 this morning.
Dr. du Plessis was everything we had hoped for. He sat with us for two hours, went over images from each of Chase's MRI's (including a high resolution scan done Tuesday morning), revisited Chase's entire history, and learned all about Trey.
The detailed scan showed Chase has never hemorrhaged, he has no scar tissue in his brain, nothing has gotten progressively worse. The bottom line, he has no cerebellum (as we know) and no pons (a portion of the brain stem which is developed from the same cells as the cerebellum during development). What we learned from the detailed scan: because there is NO scar tissue etc...the assumption is that there was no injury. The cerebellum and pons may never have existed. The fetal radiologists are going over my ultrasound images and are looking at his brain while I was pregnant and trying to figure out what could have been mistaken for cerebellum. This would mean a definite genetic disorder.
Dr. du Plessis had one idea of a syndrome to look into, it can be tested for, in Holland. Can you fly blood business class???
We will be in contact with Dr. du Plessis again soon, once he has spoken with the other specialists we met with etc. We have eagerly agreed to see him once a year while being followed more regularly by our local neurologist.
His partner, Dr. Limperopoulos from McGill in Montreal, ended up needing to go back to Montreal and we missed her. He will be sharing the info. with her and she will be coming up with more information for us as well.
OK, so at 1:00 we were off to ophthalmology. That was pretty much unremarkable. No news there.
3:30, Genetics. By then, we were nuts. I mean, we had major giggles. (We got to Boston Monday & Chase was so excited he decided to stay up all night...) Anyhow. The genetics doctor we met with is semi-retired, not that it matters but the first thing he said to me was, "I get most of my answers from parents, what do you think happened?" Keep in mind, I was batty, I must have looked at him really weird because all I could think was, I drove 8 hours hoping YOU could tell ME...it gets better.
He looks over Chase very well and goes to his computer to plug in Chase's "quirks" into a program the doctors here have been using. You insert markers and it gives back possible syndromes. The one thing the doctor mentioned that we hadn't heard before was that Chase has extra creases on the palm side of his wrists, he has 4 (I just made you all look at your wrists!) the doctor said he's never seen 4 before. Well when he went to his computer in another room, Dave, Alex and I all had to study our creases...I have 4 on my right wrist. I walked out in the hall and showed the doctor and he said it's not the same...mine is FAT...LMAO...
He came back into the room, told us a syndrome it could be, told us to monitor his liver and good luck.
The reason we went to Boston was the neurologist, and we are so glad we did! But we wouldn't trade Chase's geneticist here in Buffalo for anything!
One more quick note. Chase is losing weight. He's down closer to 20 pounds again. We have a consult November 4 with the surgeon for a G-tube to fluff him up. I wish it were sooner. I'll try to work my magic.
For now I must go down LOTS of caffeine!