June 13, 2014

NIH, Day 5

Today was the end of Bertrand's second visit to the NIH.

Bertrand was in very high spirits all day long.

Here's a photo of him playing at the Children's Inn the night before:

Of course, Bertrand started the day in the sleep study room loaded up with EEG electrodes and respiration belts, continuing the study from the night before.

I watched him until 1:30 AM, and then Nana took over.

Nana captured a "looping seizure" on the EEG at 3:33 AM to 3:47 AM.

Nana said the EEG looked almost black with activity during the episode.

The EEG tech on duty said, "Oh yeah, we're definitely getting this."

I hope the neurologists have the data they need to determine what these bizarre episodes are.

At 5:00 AM, the metabolic team came up to measure Bertrand's resting metabolic rate.  To do this, they wrapped him in an airtight bubble for 30 minutes.

They pumped air in and measured CO2 going out:

By measuring the "exhaust" expelled from the body at rest, they can calculate exactly how many calories the body is burning, and extrapolate to find Bertrand's baseline metabolism.

They measured it at 735 calories per day at rest.  What's interesting is that Bertrand's metabolism should be at 950 calories per day based on height and weight.

I asked about the discrepancy, and the theory at the moment is that Bertrand's lean body mass is lower than average for his height and weight, which would lower his natural metabolic rate.

It is possible, of course, that the discrepancy could be in part due to some factor related to NGLY1.

If the finding is consistent across other NGLY1 patients that don't have as much "adiposity" (chunkiness) as Bertrand, then it could be linked to the condition.

I may also take Bertrand to the "bod pod" device on campus at the University of Utah to see if we can measure his true lean mass content, which would give us a sense if there as a real discrepancy or not.

Bertrand managed to sleep right through being bubbled and unbubbled.

His IV stopped returning blood again, so they had to do an individual blood draw in the morning.

This time, we got Tony, a nurse in the pediatric unit.

Tony did the best blood draw on Bertrand ever.

Not only did he not use an ultrasound, Bertrand never even cried when Tony held his arm and probed it for veins.

He inserted the needle so gently that Bertrand didn't even notice!

He got blood on the first try.

We will ask for Tony on the next visit to NIH.

After the blood draw, it was off to clinical photography.

Bertrand sat for a new photo session to capture as much of him as possible.

They pulled up his 2009 NIH photos to capture the same shots for comparison.

After that, we went to the pediatric clinic for a developmental evaluation.

They took Bertrand behind a one-way mirror, so that we could watch him during the test, but he couldn't see or hear us:

It was nerve-wracking watching Bertrand do the tests, since he was truly on his own.

Luckily, Bertrand brought his A game.

He was happy, engaged, sweet, charming and focused for all the tests:

He rocked it.

They're still evaluating his score, but the specific score doesn't matter to me.

It was his best evaluation ever.

We headed back to the room after that for some rest and play:

 Bertrand has really enjoyed playing with his toy dog Scout.

A dental exam found only that Bertrand ground his teeth.  His teeth are otherwise healthy.

Dr. Zhang, a fellow from endocrinology, wanted to do a follow-up visit with Bertrand.  

He did a full exam on Bertrand, and seemed interested in trying to characterize the differences between Bertrand and endocrine disorders like AAA / Allgrove.  (Bertrand was originally admitted to the NIH in 2009 under suspicion of Allgrove.)

After Dr. Zhang finished, a physician specializing in movement disorders came in to video record Bertrand's fascinating movements.

After that, Dr. Lyons returned, since some of the early immunology values had come back with curious data and conducted a brief exam to check for predictions based on that data.

At the same time, I headed down with Donna Krasnewich, Lynne Wolfe and Christina Lam for a debriefing on the visit.

They passed me a stack of reports about 3/4 inches thick, and said they'd be sending a phonebook of more results in about a month.

Research results will trickle in over months or years.

Donna brought insights from years of CDG experience into the wrap-up.

Among those insights, she was able characterize the ways in which NGLY1 deficiency is a true CDG  and the ways in which it is different and interesting.

It is exciting to have folks like Donna involved in the rapidly evolving NGLY1 story!

I'll share more on the wrap-up in a future post as well.

We stepped through the findings (which we'll share in more detail later) going system-by-system throughout Bertrand's entire body.

The week is jam-packed with specialists all over the place, so to see these appointments start to coalesce into a holistic view of Bertrand's entire body as an interconnected system was incredible.

Bertrand has seen many hospitals, but this was the first time a hospital saw Bertrand.

There were many new discoveries and many confirmations (to be shared soon).

As an example of just one "holistic" finding, the sweat test was order because Bertrand has abnormal tear production, and an endocrinologist pointed out that tear ducts and sweat glands have a common embryological origin.

He hypothesized that we should see poor sweat production too.

And, we did: the sweat test conducted by an electrophysiologist showed low sweat production!

That discovery takes us much closer to understanding the true nature of Bertrand's lack of tears.

One of our biggest problems with Bertrand's care -- especially early on -- was that his care was being stuck in silos.

Neuro folks talked to neuro folks.  Liver folks talked to liver folks.  Eye folks talked to eye folks.

At NIH, results cross boundaries so that observations in one specialty become hypotheses in another which turn into tests and experiments in yet a third.

And, the speed with which all of it happens is stunning.
We'll have a follow-up post on the process and its findings, since it's hard to do it justice in the daily summaries alone.

In a nutshell, the NGLY1 community is beyond lucky to have the opportunity to be a part of this research program.

As more and more NGLY1 families participate with the NIH and feed the results into the NGLY1 research network, it's going to push the science forward for these kids farther and faster than ever before in the history of rare disease.

Each child that comes here takes one giant leap forward for all the rest.

We have to say a big thanks to all of the professionals that cared for Bertrand this week and to the NGLY1 researchers submitting tests to be run, but we owe a massive thanks to Lynne Wolfe and Christina Lam for putting in what must have been weeks (or months!) of their lives planning for Bertrand's visit.

When I started to look back at all that was accomplished in this week and all the planning they put into this visit on Bertrand's behalf, I couldn't help but feel humbled and grateful.

At the end, I took 27 pictures of the Lynne, Christina and Bertrand.

Bertrand was almost not a blur in this one:

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