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.

nineteen months

Iris is nineteen months old today. Now that she has mastered saying, "No," she has started to excel at miniature temper tantrums. Another funny thing she does is she tries to hold all the important things at once. So, if she has decided that she absolutely must have the bouncy ball, her two blankets, and her teddy bear all at once, she tries to pick them up and walk around with them. This usually proves impossible.

Here she is smiling for Daddy.

The things I did today to deal with the tantrums seemed to work alright. Usually the tantrums start when she and I want different things, so  I explain to her that we are doing my thing first (eat) and then we will do her thing (read). Or, I tell her that we are almost done reading and that after reading we are going to go upstairs and change her diaper. She is usually very good at cleaning up after herself (when we ask her to) and I am trying to reinforce that by having her put her toys away with some regularity.

Her favorite things: baths, running, singing "The Wheels on the Bus," the moon, doggies, bears, people of all ages, and getting tickled.

As far as medical/health items...she is doing fine on her Losartan. They plan to increase the dosage slowly over several weeks. She does occasionally seem a little dizzy. I suppose this will be a life-long medication, though we haven't actually confirmed that.

She has her 18-month check up on Thursday, and will also be getting the first round of the RSV shots, which hurt a lot. I'm not looking forward to that. Friday we meet with the four cardiologists. 

Iris is doing a good job of growing. It seems strange to think that I used to be so worried about her growth. I remember the worry well, though her growth charts show that she is doing fine. She is WAY taller than most girls her age (above the 97th percentile) and has made it into the 15th percentile in weight-for-length.

Iris is above the 97th percentile for height

Iris is above the 15th percentile for weight-for-length

ct scan done. now we wait.

Thanks, everyone, for sending us your love & support. Iris did really well, though she hated to have the gas mask on. It was really hard to have to hold her down while they put the mask on her. I'm frustrated that I didn't insist that we do it in a different way, but now I know for next time.

Just before the anesthesia

We got to the hospital around 9am and we left Iris just after 10am. We waited for maybe an hour or so. I went to the hospital library and checked out some "parenting sick children" books, which Evan and I might read together.

We were finally allowed to see her after she had already woken up. We had made it clear that we wanted to be allowed to see her the first possible moment, but we don't feel like we were listened to at all in this regard. She was awake and the nurse had been trying to give her Pedialyte and apple juice before letting us see her. She was very scared and her throat hurt from the breathing tube that she had had inserted.

We hung out in the recovery area for a while and fed her lunch and that helped a lot. She was very groggy and needed extra oxygen since the anesthesia wasn't entirely out of her system.

Very groggy, but happy to be in a wagon.

The rest of the day went fine. She is on extra oxygen now -- a full liter -- but the anesthesiologist told us that she should be back to her normal flow tomorrow. We went on an evening walk and she kept talking about the moon. She loves the moon. 

And something really exciting happened this morning. Iris used her potty for the first time. Evan and I were so excited.

We have to wait a week to get the results of the CT scan, and who knows how long the genetic test will take. One of the doctors we'll meet with next Friday is a cardiologist/geneticist and she suggested an aortopathy panel, which tests for the other genetic mutations that would cause the weakening in the aorta that we see in Iris.

I don't know whether I hope they find something or whether I hope that the genetic tests turn out negative. I think that it makes sense to treat Iris as if she has a connective tissue disorder, even if they can't pinpoint the gene causing the trouble. The problem is that if she needs surgery again, the connective tissue disorder complicates the possible remedies. So, it would be good to know for certain that she has/doesn't have one.

ct scan plan

Iris gets her CT scan tomorrow morning. She has to have been fasting for 8 hours, so we kept her up a little later than usual tonight and gave her some extra food. Then I'll wake up at 4am and give her some formula, which she can have 6 hours before the scan. The fasting is required because she'll be sedated.

The sedation makes preparations easier in the sense that I don't have to try to explain the whole thing to Iris. The hospital does have a little model CT scanner for stuffed animals, so I imagine that we will make use of that tomorrow.

In addition to the scan of the heart, the pulmonary team wants to get some images of her lungs. She'll also have blood drawn for some genetic testing -- an aortopathy panel. And just to round it all out, they'll check to see that her kidneys are flushing the Losartan out properly. I suppose that she'll be on Losartan for the rest of her life, which is a bummer, though I'm glad such a medication exists, I suppose.

We then wait a week to get the scan results, so next Friday we'll meet with a team of cardiologists who will be able to tell us how big the bulge is in the aorta and also give us some more information on the leaking happening with the aortic valve.

In other news, today Iris officially started saying "no." It's fun to see her experimenting with new words to see how people react.

Evan and I are holding up okay. It seems like our emotional reactions to all this news comes in waves. I am much more vocal and weepy with it all, while Evan only occasionally mentions his feelings. This is true generally. We also have been so busy with the rest of life that we've had very little time to sit together and process it all. We work well together when there are decisions to be made, or if there is hard thinking to be done. Situations like this require a lot of that.  

toddler doggie

happy halloween

cardiology check-up

Iris had a cardiology check up on Friday. I took the full day off work and Evan took half a day. I had been preparing Iris for the check-up with a play doctor's kit that we'd been using with Iris's bears at home. So I knew she would do great with the stethoscope. I wasn't sure about how she would do during the echocardiogram, which she hated last time. I had tried to explain what would happen several times to her. 

When we got there, she was extremely calm and let everyone do what they needed to do. She was so calm during the echo that Evan checked to see whether her oxygen was flowing. She was mesmerized by a cartoon playing in the background for most of the time, but occasionally she would say, "all done," or "up." Evan and I would then try to entertain her with something else, like the itsy bitsy spider. 

We did get some bad news. The echo showed that her aortic root is bulging and the valve is leaking a little bit. This is a new development. They can't determine the size of the bulge based on the echo so we have to do a CT scan in the next couple weeks. Because of this finding, the doctors are pretty confident that Iris has a connective tissue disorder, though we know that she doesn't have Marfan syndrome, which she was already tested for. So that means it's probably just a "not otherwise specified" expression. 

The bulge isn't an emergency situation, and next steps will be determined after the CT scan. They recommended that we start her on losartan, a blood pressure medication. We said we wanted to wait a little while to get some more information about it, and I expect that we'll start her on it in the next few weeks. Dr. Landeck thought that it was likely that there would need to be a surgical intervention at some point, just like Dr. Mitchell thought right after the surgery. 

The valve leakage is minor but should it get more severe and require a valve replacement, then it's likely that she would need a mechanical valve, which would require her to be on blood thinners for life. 

In addition to the CT scan they plan to do further genetic testing. They now are sure that insurance will cover further genetic testing, which they weren't sure of previously.

Evan is being appropriately circumspect, while I am crestfallen. None of this is coming as a surprise, really, and it's far too early to know what the implications are. There was a time when I thought that it might be smooth sailing, but that was a misguided hope. Mostly, I am trying to think about the next step, which is trying to get Iris ready for the CT scan, which will require her to have an IV so they can do an angiogram.

These are some photos of her after the check-up.

eighteen months

At eighteen months old, Iris loves to practice putting on her sunglasses by herself and wearing other people's shoes. She has also gotten very good at saying "I don't know."