June 10, 2014

NIH, Day 2

Today was about collecting data.

Lots of data.

We spent a good chunk of the morning discussing consents and objectives for the next day's procedures with Christina Lam.


After those discussions, it was off to more testing.

Bertrand was really excited to do his barium swallow test:



I got to watch Bertrand's skeleton drink and chew a radioactive breakfast in real time:


It was equal parts disturbing and mesmerizing.

Bertrand has a suck-to-swallow ratio of 4 to 1, which is developmentally very delayed.

He doesn't chew food so much as he sucks it into tiny swallowable pieces.

When we got back to the room, they attached a urine collection bag.

Then he slept some more:



We had a consult with anesthesia in preparation for about three hours of sedated procedures tomorrow.

Working in Bertrand's seizure medications without him eating will be challenging, but we worked out a plan with his team.

Bertrand will be hospitalized tonight to pump him up on IV fluids.


We left from anesthesia to do a DEXA scan.

They're checking his bone density given his history of fractures:



After that, it was back to radiology for a full abdominal ultrasound.

The ultrasound gel was cold:


Then Bertrand blew out his urine collection bag.  All over the ultrasound tech's table.

It got worse from there, but Bertrand thought it was hysterical:


We spoke again with Christina Lam and had a discussion about the kind of CDG that Bertrand had.

CDGs are usually classified as "Type I" (defects in N-glycan synthesis) and "Type II" (defects in N-glycan processing).

To the extent that "processing" is "cleaving from proteins," Bertrand is a "Type II," and yet this doesn't seem to be a totally fair characterization.

(Christina Lam explained that the typing system for CDG is really based around the effect it has on the polarity of the glycoprotein transferrin.)


Constantine Stratakis brought in a team of students and fellow endocrinologists to study Bertrand.

Back in 2009, Cristina contacted Constantine under suspicion of Allgrove.

Constantine had Bertrand out to the NIH for examination in 2009. They ruled out Allgrove, and took a few guesses at rarer disorders.

Constantine was very familiar with the updates in Bertrand's case, and recommended an ACTH stress test, a sweat test and a few kidney tests.

Bertrand's inability to cry tears combined with his issues with sweating immediately caught the attention of one of the endocrinologists.

He interrupted Constantine to explain that tear ducts and sweat glands have a common embryological basis and that a lengthening in the structure during early development could produce both observed effects.

They also suggested several features to look for in the impending MRI.


After that, Bertrand headed off for an echocardiogram:



That seemed normal, but before we could head back, Bertrand blew out a second urine collection bag all over the examination table.

Another total loss of sample.

Unfortunately, today was the last time we could get a urine sample, since the next day's battery of tests would introduce significant confounding factors into his urine.


When we got back to his room, Lynne Wolfe hand-modified a large colostomy bag to serve as a urine collection bag.

That worked perfectly.

Then Bertrand's IV came loose.

Blood slowly pooled into a bubble under the transparent patch holding it down.

Faster than I could blink, Lynne Wolfe had it redressed and repaired.


Bertrand did a round of physical therapy, showing off the impressive new skills he's learned at school and from Miss Caitlin, Miss Katie and Miss Victoria.

We got a pass for two hours of leave for Bertrand, so we took him for dinner in the atrium:


 and to play at the Children's Inn:



Bertrand has taken his last meal until tomorrow afternoon; he's fast asleep; tomorrow will be a busy day:


3 comments :

  1. Wow what a crazy flurry of activity!! I'm so impressed! Bertrand looks like he is holding up great so far. Hope that is true of you as well! (this is Milo's mom, Karen)

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    1. Thanks! These updates aren't even the half of it. The days are so full, but Bertrand is indeed doing great. He may even be holding up better than his dad. ;)

      When the boys get back, I may have to do a post entitled "Bertrand AND Matthew sleep through everything." ;)

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