A recovery weekend.

One of the countless times Bertrand's nose bled this weekend.

Bertrand had a rough time recovering from Thursday's sedation. It's the first time he has ever had side-effects coming out of general anesthesia in the 10+ times he has been under. The anesthesiologist gave him some different drugs toward the end of the procedure, but they didn't agree with him. (This was a different anesthesiologist than the other 2 we've gotten at Primary Children's. I want to make note of the 2 drugs so Bertrand never gets them again in the future!)

Bertrand was extremely groggy, nauseated and sore for the past few days. He vomited a few times on Thursday, but harder to witness were his repeated nose bleeds on the following days. (These could've been caused or aggravated by the EGD.) I've lost track of the number of times I have changed/washed his sheets. A combination of humidifiers, motrin, ayr saline gel, books, Elmo and snuggles helped keep my poor baby comfy. Thankfully, this evening Bertrand finally seemed back to normal.

Dance Sensation! And More Sedation...

I just HAD to share photos of Bertrand at his dance class today. He had such a blast! His wonderful aide, Ms. E, rigged up a special carpeted rolling platform just for him! He LOVED it. Bertrand was relaxed & compliant (allowing Ms. E to help him reach for the sky, touch his toes, clap his hands, etc.) for most of the class, and toward the end he really enjoyed shaking his bumble bee shaker. Look at his grin while he "buzzed"! Precious! :)

Bertrand also had a dental check-up today. His teeth aren't looking good. His bottom front teeth in particular are so ground down that there is big concern for the nerves. He may need caps added to those teeth to preserve them. Bertrand will have to undergo a more thorough dental exam, cleaning & x-rays UNDER SEDATION. Yes, most people go under general anesthesia maybe 4 times in their entire lives, but Bertrand? Four times in a little over 2 months?! Not cool. I put all my special needs mommy ninja skills to work this afternoon and managed to arrange his EGD & dental exam together.

This means I am wiped out! 9PM bedtime, here I come.

PS - Bertrand's eye is still improving. He needs another week's worth of antibiotics and has ANOTHER follow-up with the ophthalmologist next week. We'll both be happy if we never see a bottle of eye drops ever again.

Bertrand on Drugs

Laboratory Results & Talk with Neurologist

I just got off the phone with Dr. Ai Sakonju, Bertrand's neurologist. We discussed some of the early lab results and next steps.

Bertrand's alpha-fetoprotein dropped to 259.8! A second drop in a row--this is great news! (However, keep in mind, the normal range is from 0 - 15.) However, his ALT and AST (liver enzymes) stayed elevated. Which is odd.

The strep test results for Sydenham's chorea (which we weren't expecting for another two weeks) came back negative. So, it is not Sydenham's.

Dr. Sakonju was honest with us saying that when presented with Bertrand's case, gastroenterology says its neurology while neurology says its gastroenterology.

We discussed Bertrand's CT scan and its implications for gastroenterology. A liver biopsy was mentioned, but we will hold on further discussion until Dr. Book, Bertrand' GI doctor sees him in March. Given that the liver looked normal on the scan, a biopsy may not be recommended.

We also discussed Bertrand's positive reaction to the sedative during the CT scan and possible medication. This conversation will also wait until we get the AT results back or the next time we see Dr. Sakonju in office.

Dr. Sakonju would also like to see a CT scan of the brain to look for calcifications in the basel ganglia. She mentioned looking at Tay Sachs disease (apparently it is not just a Jewish disease) and other metabolic disorders. Again, this will be after the results for the AT DNA test come in.

I discussed other possible genetic/chromosomal work with Dr. S. She said that while we may eventually get there after we've re-ruled out metabolic, Bertrand doesn't fit the profile of a child with a chromosomal disorder. He is extremely symmetrical and well formed with no extra (or missing) pieces. He is a very beautiful, normal-looking baby.

As this post was written in a rush, I will probably add and edit it later this evening.

CT Scan Results, Blood & Urine Tests

The poorly inserted (& removed) IV hurt Bertrand's right hand.

CT Scan Results
As anyone who has met Bertrand knows, he moves even in his sleep. We've learned that this does not a good CT scan make.

The radiologist who read Bertrand's CT scan said that, while apparently normal (no evidence of tumors or trauma), the scan was not clear due to "motion artifacts". So, yes. Despite being sedated to level where most babies are catatonic, being strapped down to a table, and having his mother (in a lead vest) holding down his arms--Bertrand jiggled all through his CT scan.

I'd recommend to any parent of a child with a movement disorder: go with general anesthesia. With general anesthesia, Bertrand kept still through his entire MRI and for much longer time than the CT scan. In order to sedate Bertrand for the CT scan they had to put in an IV--it was just as difficult as putting him under general. And, he suffered no ill effects from either.

In the future, we will err on the side of not having to redo our expensive medical imaging work by going with general anesthesia over sedation.


Blood & Urine Tests
This morning we went back to the Primary Children's Medical Center, this time to the outpatient lab. Patrick, our excellent lab technician, hit vein right away. The draw was quick, clean and basically painless (Bertrand barely noticed).

This blood sample will be used in the DNA diagnostic for ataxia telangiectasia. Basically, they will irradiate the blood at Johns Hopkins to see if and how the DNA changes. A positive result is not a definitive AT diagnosis, but that does put us in the realm of genetics. We will know in 4 - 6 weeks.

Blood drawn today is also going to test for Sydenham's chorea. This test will be run inhouse at the University of Utah. Due to the uncommon nature of this test, they save it to be run in batches. We'll get the results when they run it, generally between 1 - 2 weeks.

Bertrand's standard blood and urine tests will also be run. (However, this morning he decided that he was going to resist donating a urine sample, so we'll be taking a frozen--yes, frozen--urine sample to the lab tomorrow.) These results are back within a week.

CT Scan "Drama"

Bertrand didn't want to be released out the airlock. :)

Bertrand had his CT scan today. We got the the hospital at 12:30pm and left at 5:00pm. This for a procedure which should have only taken an hour.

The problem really came with trying to draw blood and inserting the IV. We got in at 1pm, but then between getting lab technicians in and confirming testing orders, this pushed us until 2:20pm. Then Bertrand's veins pushed us until 2:45pm, which meant we were going to miss our deadline to pack and ship the blood work.

I called halt on the blood work after they'd pricked him 3 times with no success. We have to go back tomorrow so they can take it from an artery instead. Emotionally, this was exhausting for me, but Bertrand seemed just fine after the ordeal.

The sedative they used didn't knock him out, but made him a bit trippy, happy and more coordinated than usual! Matthew and I laughed when the nurse noted his movements and said, "Bertrand may be a bit more wobbly than usual." Ha! He was LESS wobbly than usual! He was talkative and grabbing things first try. I think the nurse thought we were crazy. She also said he could be cranky for the rest of the day, but he was an angel. Go figure. Our son doing the exact opposite of the norm. Who'd've thunk? :-P

Tomorrow we'll be at the lab by 8 am. We'll let you know how it goes.