June 9, 2014

NIH, Day 1

Bertrand was admitted today under three different research "protocols" at the NIH.

Almost every system of his body will be under intense study by leading specialists for the five days.

There are many research goals, but most are centered around two chief objectives:

 (1) What is Bertrand's phenotype? (What are the symptoms?)

 (2) What is the natural progression and spectrum of his disorder, NGLY1 deficiency?

Because of the second objective, Bertrand is just the first of several NGLY1 patients to be admitted under these protocols.  The NIH needs to study and intends to study as many NGLY1 children as possible as part of this research.

Shedding light on the variations between the patients is critical to understanding, treating and curing the disorder.

Bertrand sleeps

Every day at the NIH will be intense.

Day one was no exception.

We arrived at 7:30am for admission.

Bertrand slept through it:

After that, Bertrand slept through his weigh-in:

Then he slept through his height measurement and vitals:

After that, we met with Lynne Wolfe and Christina Lam for an introduction and overview.  Lynne and Christina have put tremendous effort into developing the protocols under which Bertrand is being studied and into the military-invasion-level logistics of coordinating so many doctors in so little time.

We also briefly met with Bill Gahl, director of the Undiagnosed Disease Program (UDP) at the NIH.  (Bertrand is also being studied under a protocol from the UDP program.)

Bertrand took the opportunity to sleep some more:

The draw

We headed to phlebotomy next, where Bertrand slept while waiting:

until he realized he had to fill every vial on this tray with blood:

In a moment of karmic vengeance years in the making, Bertrand literally (yet quite accidentally) kicked the unsuspecting phlebotomist in the nuts while he drew blood.

Consulting with the experts

We had an excellent consult with physiatrist Scott Paul and occupational therapy specialist Becky Parks.  They were able to provide insight into better therapies and techniques for Bertrand, ranging from better stances for his stander to new equipment to enhance his aquatherapy.  They also recommended a near-total overhaul of his wheelchair, since he is growing much faster than expected.

Next up, we had a surprise visit from Donna Krasnewich, a leading scientist and physician on disorders of glycosylation.  Donna has seen almost every patient out there with a CDG, and she was excited to meet Bertrand, the first known case of a disorder of deglycosylation.

After a thorough inspection, she found many similarities between Bertrand and the traditional CDG patients.

She also found a handful of notable differences.

Discovering these similarities and differences will help scientists understand both NGLY1 deficiency and traditional CDG.

That understanding brings both closer to treatments and cures.

This week is all about building that understanding.


At this point, we'd run out of time for lunch.

Out of nowhere, an angel (Bertrand's "Aunt" Niki Hyer) appeared out of nowhere with a delicious spread from Founding Farmer's:

After that, we headed over to get an EKG (primarily to confirm the absence of long QT syndrome).

The IV team

To avoid ringing the doorbell on any further phlebotomists, they decided to get Bertrand an IV from which they could draw blood freely.

Since Bertrand is a difficult stick, they used an ultrasound to find a vein.

After about 10 minutes of scanning both arms with the ultrasound, the IV tech looked up and said:

"He's got only one vein left."

"And, it's small."

"I need backup because we're only going to get one shot at this."

Some kind of phlebotomist-ninja hybrid was summoned while Bertrand was pinned down to prevent any and all movement.

The hybrid guided the needle in under ultrasound while Bertrand howled and writhed.

Blood squirted onto the table.

They got the vein.

30 seconds later, his IV was wrapped, and we were on our way.


Next up was a full skeletal survey in radiology.

Bertrand slept first:

Then they spent about an hour taking skeletal scans:

The science

After that, we met Bertrand's genetic counselor, and had a long chat with Lynne Wolfe about the importance of these protocols and the valuable information they yield -- for the patients and for science.

In the final meeting of the day, we met with an immunologist researching the peculiar and intriguing immune system properties of CDGs, Sergio Rosenzsweig.

He gave us insights into the way NGLY1 deficiency and other CDGs can influence the immune system.

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