Evan here, for a medical update.
We had a big appointment at Children's on Friday. We
were a little late leaving the house to begin with, and then we discovered that
Iris' car seat was broken and had to transfer all of our baggage to the other
car. We weren't very late for the appointment, and we had to wait nonetheless
for the team of expensive specialists to assemble.
When they were ready for us, they called Sarah and me into a smaller computer
room while Sarah's mom stayed with Iris in the exam room. They showed us the
new CT scan and echo as well as the older MRI and previous echos.
We didn't really hear anything too new, but we did get lots
of great detail from them.
Iris' original surgeon was there and he gave us his frank
and detailed thoughts. His use of medical jargon was unrelenting, but since we
already understood the issues we were able to follow pretty well. And we
recorded the whole two hour endeavor just in case. His main points:
- Her ascending aorta is in really bad shape and will
need replacement in her life. It is currently stretched to 23mm, which is
4.5 standard deviations (almost certainly not normally distributed) larger
than the average for babies her age and weight. The valve and descending
aorta on either side of the dilation are normal-to-small in size.
- The dilation in her ascending aorta is stretching the
aortic valve in her heart slightly and is causing it to leak a bit. The
leaking isn't bad now, but further stretching would damage the valve and
might necessitate replacement with a mechanical valve, which would
decrease the quality of her life substantially. He suggested we need to
avoid this at high cost. This might lead to a surgical intervention
(replacement of the ascending aorta), likely a temporary one, sooner
rather than later.
- It would be great (though unlikely) if this replacement
can wait until she's big enough to take an adult-sized graft. Otherwise
she would need to get it done twice, which he seemed to consider extremely
dangerous. This consideration competes with (2) above, which might make
for some difficult decisions in the future.
- The "aortic root" is at the moment holding up
well, though is stretched a bit by the dilation.
- He is hopeful about her long-term prognosis (with these
interventions). He thinks she'll be able to live a long time. He's a real
downer, so this actually means something.
Other
points that were made by the group:
- All signs seem to point to a systemic connective tissue
disorder.
- The geneticist/cardiologist has a hunch (greater than
50% chance) that the aortopathy panel will come back with some positive
results. (In 3-4 weeks.)
- If any positive results come back, we should get
ourselves tested before pursuing having another child. (We are definitely
not in pursuance at the moment.)
- Sarah and I should get our hearts looked at in an
echocardiogram to see if we have any similar defects. Just as Iris'
defects were all missed because she looked so healthy, we might have
something similar.
And
there was a frustrating lapse in care that we uncovered:
After Iris' first surgery the surgeon told us that her aorta was surprisingly
thin and unhealthy and would likely require surgery later in life. When we
spoke to her cardiologists about this, they said there was nothing of the sort
in the chart or surgery notes, and the surgeon couldn't recall such a thing and
didn't think he would even have been able to make that determination. Sarah and
I and some family and friends were all present after surgery when said it, and
our memories were all pretty much in agreement on his points. We pushed the
matter, but the conclusion the docs seem to have quietly reached was that we
misunderstood what he said. His response to the recent findings exactly echoed
his original statements to us ("thin, unhealthy aorta in need of further
repair"). This frustrated us, but at least now she's being watched as
closely as she should have been the whole time. To be clear, it seems to us
that they were not monitoring her aorta like they should have been.
This of course reinforces the idea we've had all along that we are the ones
managing and coordinating her care. No one else can take the time to process
and integrate all of the thoughts and findings of these specialists, so it's up
to us to understand and cross-check and ask hard questions. This is daunting, considering our lack of medical education.
Overall, the news of an impending surgery is really isn't
new information for us. We expected as much. We've been processing it for a few
weeks and will continue doing so. We briefly talked about the idea of getting a
second opinion once the genetic results come in.
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