It’s
the last day of the study! It will be so good to be back home tomorrow night
where we can all sleep and recover from this week.
Today
started with a skeletal survey and bone age analysis, so basically a bunch of
x-rays. It’s a good thing x-rays are taken so quickly otherwise we never would
have been able to hold Teddy still for them. As it was, we managed to get all
the angles except his feet held sideways and his head sideways. So they got all
the body parts pictured, just not both angles on the feet and head. Considering
that Teddy fought us the entire time, clinging to Dave like a monkey to a tree
in between each x-ray, we were satisfied with that amount of pictures. I think
the x-ray technician got her workout in dashing behind the screen as quick as
she could to get the pictures snapped each time. It wasn’t fun, but it wasn’t
an epic fail. (That would be the dexa scan later in the day.)
Teddy
had woken up just before 6 this morning happy after a decent night’s rest, but
he was tired already before we left the Children’s Inn. One good night’s sleep
doesn’t make up for the past couple rough ones. We tried a nap before and
during hematology, but that didn’t work. Hematology was really short and
uneventful because there was nothing abnormal with Teddy from the labs that
were already back. They wanted to run a few more and put in orders for them,
but we found out before we had them done that the Natural Histories team said
they were already done and/or not necessary. I’m glad we heard that before we
attempted labs for a third time this week.
 |
| Dave and Ted's artwork this morning. |
Dave
continued his unsuccessful attempts at naps (for Teddy, not him) until our
escort took us for Teddy’s photo shoot. Normally Teddy is a ham for big
cameras, hence his supremely cheesy preschool picture, but this week has him
freaked out about every room we enter. He managed a few smiles though the
shoot, and it was only about 10-15 minutes to get all the pictures needed. The
idea is to capture on film what his body looks like now for future study and
analysis of features as they change over time. (Yes, that means we anticipate
coming back here. More on that later after our wrap up with his team.) We also
got a family picture taken with Teddy trying to escape Dave’s arms, which is a
pretty standard family picture for us. I really felt like we should have been
able to hold signs like you do after you complete or fail and escape room. I
wanted, “We survived our week at NIH!” or “Those tests were hard!”
We then had a different immunologist come to see
Teddy to discuss the irritation around his eyes, which was not surprisingly
considerably less today than on Wednesday when they had been taped for his
anesthesia. The two immunologists discussed with us that it’s the question of
the chicken or the egg—does Teddy rubbing his eyes cause them to become
irritated or does he rub them because they’re irritated? Regardless, it’s not
significant enough that it warrants treatment. Again, allergy testing was
discussed as something not to pursue at this time because it’s
essentially not worth putting Teddy through the testing. If he has allergies,
they’re mild enough that an OTC medication like Zyrtec would be all he needs.
So we’re going to try a 30-day run of Zyrtec and see if we notice any changes
with his behaviors. I liked what the immunologist said that you can only do so
much and have to focus on what’s most important because life is chaotic.
 |
| This is how we spend time between appointments. |
We attempted the dexa
scan, which involves laying on your side for a 25- to 30-second scan to measure
your bone density. Even at his best, Teddy doesn't sit still or hold still for
25-30 seconds. At his I'm-freaked-out-about-all-these-procedures, we can't hold
him still on his side for any amount of time. We barely got the side x-rays of
his spine, and that only takes a second of stillness. So that was determined to
be a fail with the technician requesting we come back when he was worn out (ha,
he already was) or at a different time to try again.
We
grabbed some lunch and ate quickly before noon when we were scheduled for
hepatology, which is the study of the liver and related systems. For some
reason that doctor hasn’t showed up yet despite it being almost 1 as I write
this. That’s not the worst thing for us because Teddy fell asleep and is
getting some much needed rest (as is my big kid who is now snoring along with
Teddy).
 |
| One exhausted boy. (And apparently sick, too.) |
One of the weird
things about this study is that we are admitted into the in-patient unit, which
really had us worrying the first day if we were required to stay here
overnight. Even though he’s admitted as in-patient, he gets pass every night to
go to the Children’s Inn. Dave’s guess is that it makes it much easier for
everything to be scheduled for the week, especially since about half his
appointments are done bedside in his room, if he’s admitted and has the same
room all week.
The
hepatologist came nearly an hour late, which was perfectly timed to Teddy being
awake, hungry and happy. He was eating his pizza and milkshake when the
hepatologist arrived and cautioned us (as the second doctor) about his
propensity due to CDG to have extra fat in his liver and the need to limit
carbs to prevent excess belly fat. Seriously, it just happens that he has
milkshakes when the nutritionist and hepatologist come into the room ... at
least it didn't happen, too, with the endocrinologist. The message is clear,
though, that we do need to work a bit harder at offering healthier food choices
to Teddy more consistently. Excess fat could cause issues within his liver,
although the remarkably brief test they did (a fibroscan) showed normal
results. He tolerated that test really well thankfully with only a brief cry
and mostly smiles as they tickled his belly. This was what we had expected of
him most of this week. The other reason weight is a concern is to ensure he's
not having to work extra hard to move with extra weight. Why couldn't he have
AJ's build?
After
that we visit, we went back to the dexa scan. We did our best to hold him down
and attempted two scans. Even with both of us holding him (and somewhat minimal
screaming the second time), there was still too much wiggle for the scan to be
successful. This scan measures bone density, which tends to be lower in
children with CDG. I seriously doubt even if Teddy wasn't freaked out by the
medical procedures that we couldn't have gotten him to stay still long enough
for the scan. That 30 seconds is an eternity to a child in constant motion.
 |
| When the study is done, it's time to play! |
That
was the last thing on the schedule until our debrief, so we took that break to
head outside and enjoy the sunshine. We played on the playground, and we were
all smiles to be done. When we headed in after a half hour of fun, Teddy was
instantly crabby. We were walking him around the hall to the play room to
occupy him until his team came when he refused to walk. Dave picked him up and carried
him down the hall a bit before Teddy vomited all over Dave, himself and the
floor. We took him back to his room to avoid more public puking while nurses
and housekeeping cleaned chunks of grapes off the floor.
Fortunately
Dave had a long-sleeve shirt that he could change into, and we stripped Teddy's
shirt. He was absolutely miserable, whimpering and crying and flopping around
between us trying to find something that made him feel better. His team arrived
after 30 minutes or so and was somewhat concerned about the vomiting. Lynne put
in an order for liquid Ibuprofin because we didn't think he'd tolerate the
tablets we had to hopefully make him feel better. He managed a few smiles for
her but spent most of the time crying, whimpering and being consoled as best as
Dave could.
I
think Teddy's illness detracted from the debrief, but we each received a packet
that's probably 50 pages double-sided of reports. And this isn't the full
report because some tests still aren't back yet or reports aren't written. We
were told to disregard any labs or tests that showed an H for high or L for low
if they weren't something we discussed this week because they were either close
to the normal range or things that weren't concerning to them.
A
few findings they noted:
- His
overall iron levels were fine, but his ferritin was low.
- His
carotene, which usually comes from red meat, was low in his muscle cells
but not overall. This is something that we actually received a
prescription to supplement. Low carotene levels can actually diminish
muscle capabilities, which isn't necessarily the case in Teddy, but it's
worth treating.
- His
MRI showed cerebral abnormalities, not as significant as findings in other
CDG patients. Lynne noted that one of their neurologists often says that
pictures of brain don't reflect what a person can do. This is something,
though, that should be monitored over time to note any changes.
- He
is technically obese, which he might outgrow as he gains more height, but
it is concerning to the dietician, hepatologist and endocrinologist for
the reasons stated above. (Maybe it's my "Mom" bias, but he
looks well proportioned to me despite my frequent comments as I carry him
that he needs to lose weight.)
- Follow-up
studies would likely be 2-3 days instead of repeating all the testing.
Tests relevant to his diagnosis in particular or Teddy in particular would
be the focus. Follow-up testing would likely not occur for at least
another year, most likely 2-3, unless something of significance changes.
The team (Carlos,
Tara and Lynne) all thanked us for our willingness to participate in the study.
Carlos said that we are now part of their family and that we can reach out to
them at any time with any questions. Probably the best part of this experience
for me is that each specialist who met with Teddy has experience with other
people who have CDG and GPI-anchoring disorders. That means we can now at least
ask a question back to the team where there is some level of familiarity with
these types of disorders. It's not that we don't like or don't trust our team
back home, but no one there knows these disorders-they've essentially been
learning with us.
We
asked for a group picture of the team with Teddy, despite his miserableness.
There was one picture I snapped where he was crying, but I joked that we could
almost pretend he was smiling. No sooner had I finished taking the pictures and
making that comment did he unload the rest of his grapes and pizza onto
himself, his stroller and the floor.
 |
| Lynne, Tara and Carlos with Teddy. These people are incredible. |
We weren't happy that
he vomited again, but it was nice to have the team there. I was impressed that
Carlos put on gloves and helped clean while Lynne ordered an anti-nausea
medication for him to go with the Ibuprofin. Lynne also determined she wasn't
discharging Teddy today. She left it up to us whether we spent the night at the
clinic or at the Children's Inn. But if she discharged Teddy and we had issues,
we'd have to go through the readmission process. This way she can discharge him
by phone tomorrow morning if he appears healthy, but we have immediate access
to care if we need it tonight.
Teddy perked up after
about 30 minutes or so, once the medicine kicked in, so we decided to at least
head to the Inn to grab some supper and take it from there. Before we left, I
picked up some additional liquid Ibuprofin from the pharmacy, along with the
carotene prescription, so thanks for your tax dollars for those medications (as
Lynne put it). The reality is that our taxes do fund a large portion of the
research, care and facilities, so thanks for your financial support in this
endeavor along with your morale support. (And as a side note, we're right
across the road from Walter Reed. I found that interesting.)
We headed back to the
Inn, and I made supper while Teddy colored on the bed. Literally colored on the
blanket instead of the coloring books apparently. Whoops. Teddy ate a yogurt
and applesauce and drank a cup or two of water this evening, so we're hoping
he's over whatever it was and that it's not just the medicine masking the
symptoms. We're also hoping that we don't end up puking either. Teddy was his
usual self, laughing, playing and thinking he was super cool and funny the rest
of the evening. We kept him mostly in our room, aside from trips to do laundry
and eat in the kitchen, to avoid spreading any germs he might have. He was
wound up, so he didn't go to bed until after 9, but he was extremely happy all
evening. It was nice to have our Teddy back because he had us really concerned
this afternoon. (I'm still worried that once the meds wear off that we might
end up making a trip to the clinic in the middle of the night, but I'm hoping
everything is fine.)
So
we have a huge report to read, with different reports from each physician or
test included. However, some of the reports, including sleep study, EEG and
neurodevelopment, aren't complete yet. So we'll continue to receive reports
through the next couple weeks to a month until we get them all. It's going to
take a while to sift through and read them all, but we have a lot of material
to share with his team back home.
 |
| This is how happy we are to be done with all the tests! |
At some
point, I'll likely do another post about either results or the experience once
I've had time to process it, but here's what I'll say for now. I was extremely
impressed with how knowledgeable, interested, compassionate and patient
everyone was. Some of the doctors knew where we were from, where Dave worked
and had read parts of this blog. Everyone, except that one phlebotomist, had a
smile for Teddy. (I think it was just his demeanor-he was really good at what
he did.) It was an incredibly intense, overwhelming week filled with highs and
lows. It seemed like a win came when we needed it, a reason to smile after a
screaming procedure. We couldn't be more impressed with the study team. We have
an enormous amount of information to process and understand.
As Dave
just said, "It's been a tough week, Wifie." It has, but it's worth
it. It's worth it for us to have this team of experts now available as a
resource. It's worth it to have met Alexa and her family, which happened
because we were in the area for the study. It's worth it to have the
information about Teddy, even if a lot of the tests showed no concerns. When
you have a non-verbal child who you struggle to understand, knowing that a lot
of things are fine is reassuring. It's worth it for any other child, adult or
family who benefits from the information gathered and what they were able to
learn from Teddy.
