Tuesday, October 27, 2009

Phone call from Dr. du Plessis

I gave it a few days to sink in before posting, I apologize. Last Thursday night Dr. du Plessis (Chase's Neurologist in Boston) called. He had been in contact with several specialists and wanted to fill me in on their discussions.

#1. He had given a fetal radiologist the images we took to Boston from Dr. White. The radiologist confirmed that Chase absolutely had 2 perfectly formed cerebellar hemispheres, a.k.a. a normal cerebellum before he was born at one point. This has Dr. Du Plessis and several doctor's he has spoken with very confused because of the fact that there is NO scarring on Chase's brain, NO sign of injury and absolutely NO cerebellum...

#2. He spoke with two specialists in the Netherlands about testing Chase for a genetic syndrome, Pontocerebllar Hypoplasia (PCH) which we discussed during our visit to Boston. We are arranging to have the sample drawn, packaged and shipped to Amsterdam. The specialists have never seen a case of PCH with "Vanishing Cerebellum" which is basically what Chase has (had?), but there are multiple types of PCH and he could be a new category.

So we are all very confused with where his cerebellum and pons went, why there is no trace of it, no sign of injury and thank God why he is doing so WONDERFULLY!

He has a new physical therapist who we adore. She has him WALKING...she's helping an awful lot of course, but she is determined to get him moving.

He is beginning to sign with his speech therapist, sing with his teacher, identifies body parts, identifies pictures, has an extremely sarcastic laugh which we are extra proud of, LOL. He will take YOUR hands and teach YOU to clap or sign "all done".... I'm telling you, g-e-n-i-u-s! It's just taking a little longer for him to show it! He plays on the floor up on all fours all the time now. Gets into cupboards. WATCHES SPONGEBOB! (free time for mommy!)

He has an appointment with the surgeon about his feeding tube insertion on November 4th...

His P.T. just put through paperwork for him to start swim therapy once a week.

OH! Main Mobility on Main Street in Clarence won the bid for the van modification!!! We're so happy. We met with them before we bought the van because we didn't even know what we were looking for. It's going very soon now! FINALLY! It will be a long 6-8 weeks, but well worth it. Now if we could get a modified house to park it in front of...no we haven't found anything even close yet. It's amazing how picky we have to be and how unpractical houses are when you have a child that will realistically be in a wheelchair/walker indefinitely...

Ok, I can't imagine I've left anything out, except that, since this is MY favorite time of the year I have to say:


a few Boston pics:

This is "Moofie the Giraffe". Alex bought him for Chase with his own $ while Chase was in his MRI...Chase IS in the van, I promise...

Our room was GREAT!!! We'll be staying there again!

It was a VERY long 3 days...

Brotherly love!

Take Care Everyone!
We'll keep you updated, XOXO

Thursday, October 8, 2009

Boston Children's Hospital

(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!