eight months

After a couple months of mostly no sickness, we three girls have all come down with some stomach bug and Sibyl has an added cold. We haven't been sleeping well, partly because Sibyl is teething and partly because I haven't encouraged good fall asleep habits for her. I can't bring myself to let her cry it out.

She is pulling herself up and is ready to walk any day. She has 4 teeth and is about to get some new ones. She is babbling a ton and seems to say a version of "all done" when she's all done. I'm less militant about using sign language with her (like I did with Iris) but they also do it at school so I'm hoping that she'll start using signs for "milk" and "more" soon. She loves to drink water from a glass.

As for Iris, our neighbors passed down a strider earlier this summer and she loves to ride it. She also started a creative movement dance class earlier in September. They mostly jump around to songs and then learn one or two ballet positions. At the end of the class they curtsey.

We went to our first family volleyball game earlier in the month. The University of Denver has a varsity team. They played Georgetown (and DU won). I miss playing volleyball a lot. Someday in the near future I hope to start playing in a club. (I also hope to start having regular family sing alongs and start playing guitar/piano regularly and... the list goes on.)

Iris is supposed to finally get her routine brain (and aorta) MRI the first week in October. We've had to reschedule it a million times this year due to illness, snow, and misunderstandings on the part of the schedulers.

neurology, round 2

Our second meeting with the neurologist was less overwhelming that the first, mostly because we knew more or less what to expect to hear. That's not entirely accurate - I didn't know whether to expect to hear that the white matter lesions had gotten worse. I did my best to prepare to hear that yes, they had gotten worse, though.

The news is basically good: nothing has changed. Iris still has white matter lesions, but the damage hasn't progressed. And the vessels all appear about the same size -- they haven't narrowed. Patients with the ACTA2.r179 mutation have dilated internal carotid arteries and narrower middle cerebral arteries. Her middle cerebral arteries do not look paricularly narrow at this point.

One piece of information I had forgotten, though has been mentioned in the past by various specialists, is that the ACTA2.r179 mutation results in the overproduction of smooth muscle cells. So, over time, the space for blood to flow narrows as the vessel walls become thicker. And at that point the neurologist would tell us that a major stroke is imminent and that it's time for surgical intervention.

Barring any TIA's or other neurological events, I'm hoping to push the next MRI to a year out. It seems that the other ACTA2.r179 folks have MRIs about every 12-24 months...not more frequently than that unless there are major indicators requiring it.

So, overall, good. (Amazing how your bar of what qualifies as "good" changes. We adapt.)

"I love Daddy."

I went into Iris's room the other morning when she announced that she was awake with a cry/wail. I got right up next to her and said, "Did you have a good sleep?" She stretched and looked at me with a big smile and said, "I love Daddy." 

The feeling is pretty mutual. Evan is happy to tell people that playing with Iris is the highligh of his day and the other evening Iris was showing Evan her favorite book. Evan said, "Is that your favorite book? Well, do you know what my favorite thing is, Iris? My favorite thing is you!" 

Iris is one of the most affectionate little people I've ever met - she loves to hug the kids and adults in her daycare classroom and at the church nursery. And when we leave for work she does multiple hugs and kisses with both of us. We certainly encourage it, while also trying to get her to understand that sometimes people don't want hugs or kisses. 

Tomorrow morning (check-in at 6:30am!) she has her second brain MRI, the first having been in January of this year. I bought a couple gas masks that smell like buble gum for us to practice with. I expect the putting her to sleep part of it to be fully awful, as it was last time. 

For every procedure that requires anesthesia I wonder if she'll have a stroke while she's under. It is clear that the likelihood of her experiencing a stroke increases as she gets older and there's almost not a day that goes by that the thought doesn't cross my mind and I wish, "please don't let it be today." I think about it more in the summer when it's hot because being dehydrated can increase the risk of stroke, too. 

We will get the results of the MRI on Tuesday of next week when we meet with the neurologist again. 

two new specialists

We have added two new specialists to our roster. We were expecting the neurologist, but the hematologist was an added bonus. It's not that Iris has anything wrong with her blood. Her problem lies entirely in the vessels carrying the blood. Some of the bigger ones are dilated (aorta, internal carotid arteries), but the smaller ones in the brain are too windy and make too many corkscrews. When blood bumps into vessel walls the platelets get activated and start trying to form clots. Enter stroke.

As you may or may not know, Iris had her MRI on a Friday (January 23) and then we didn't meet with our new specialists until the following Tuesday. We did get initial results on Friday evening from our cardiologist, but much of the report didn't mean that much to us.

In addition to the brain MRI and MRA, they did an ultrasound of various other organs potentially affected by the ACTA2 r179 mutation. The good news is that those organs--pancreas, liver, gallbladder, spleen, kidneys, bladder--look normal. She does have a small gallstone. So that means another specialist...that'll put us up to around seven. But the good news is that she won't have to have surgery for malrotation of the intestines. Hers are rotated just fine.

Fake smile pre-MRI.

A little zony after the MRI, but still wants Mama's phone.

But back to the brain. Iris has white matter lesions typical of others with the ACTA2 r179 mutation. This means that parts of her brain that help control motor development have suffered some damage. She seems to have compensated, though, since there are no observable delays on either the left or right side of her body. The neurologist thinks that *maybe* her left ankle is slightly more stiff than the right one.

As far as the blood vessels, her internal carotid arteries are dilated, and the middle and anterior cerebral arteries branch abnormally. One of her basilar arteries doesn't make it up to the Circle of Willis. It does feed the parts of the brain it's supposed to before making it to the Circle of Willis, but then just stops. And, as I mentioned above, some of the vessels are like little corkscrews and they're not supposed to be. The blood wants to clot and we need to try to avoid that.

Circle of Willis

So, what do we do? Aside from try to find time to learn some new anatomy...we've started her on a daily aspirin routine. Aspirin has an anti-platelet action that helps. We also have to keep her really well hydrated and well electrolyted because blood is more likely to clot if it's got less fluid in it. She can't participate in contact sports, and shouldn't go on roller coasters or do anything that will make her crane or contort her neck.

So I'm thinking piano will be great for her...dance, yoga -- just no headstands or shoulder stands. I'm a huge fan of walking, too. I suppose she'll be allowed to run, but we'll have to check on how her aorta handles it.

In the world outside of medical stuff, Iris is a joyful force to be reckoned with. She knows all her ABC's, can count to 10 (sometimes), and is starting to put longer and longer strings of words together. She has taken to naming people she knows and then saying "Come!" because she wants them to come visit.