friday's appointment

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:

1. 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.
2. 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.
3. 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.
4. The "aortic root" is at the moment holding up well, though is stretched a bit by the dilation.
5. 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:

1. All signs seem to point to a systemic connective tissue disorder. 
2. 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.)
3. 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.)
4. 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.