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. 

twenty-one months

New words come out of this girl's mouth every day. She is making jokes, lying, and constantly surprising us with the things she remembers. Lately, she has been saying people's names and then saying, "Come!" I ask her if she wants that person to come over and she says, "Yeah!" 

It's such a privilege to get to watch this little human grow up. We have been working on having more family fun and mostly succeeding at it. Iris loves backpack walks, though if she's hungry they don't work so well. 

Playing with Mama's keys

Backpack walk

Today I was playing Raffi for her and the song "Thanks a Lot," came on. She said, "Hug..."  and then, "Kiss..." in the direction of the music. I asked her if she wanted to hug and kiss the song and she said "Yeah!"

Here are the lyrics: 

Thanks a lot,

Thanks for the clouds so high.

Thanks a lot,

Thanks for the whispering wind.

Thanks a lot,

Thanks for the birds in the spring. 

Thanks a lot,

Thanks for the moonlit night.

Thanks a lot, 

Thanks for the stars so bright. 

Thanks a lot, 

Thanks for the wonder in me.

Thanks a lot, 

Thanks for the way I feel. 

Thanks for the animals, 

Thanks for the land,

Thanks for the people everywhere. 

Thanks a lot,

Thanks for all I've got.

Thanks for all I've got. 

next steps

We talked to Dr. Milewicz and a co-researcher, Ellen Regalado on New Year's Eve. They are at UT Houston and work with the John Ritter Research Program in Aortic and Vascular Diseases. Dr. Milewicz is the one who discovered the ACTA2 mutation and they have 20 individuals in their study with the R179 mutation. 

We are going to send them a skin sample from Iris's arm, which they will use to make into stem cells and then into smooth muscle cells. They need her cells in particular because her mutation is R179C instead of R179H or R179L. Since her mutation produces cysteine it creates more of the protein than with the H or the L version. (I don't understand this very well, I'm just quoting what they said to us.)

Iris was supposed to have the MRI/MRA/ultrasound on the 12th of January and then we were to meet with the neurologist on January 13 but with there has been a tremendous scheduling problem at the hospital and they've had to move the MRI/MRA/ultrasound back to January 23. I spent the bulk of yesterday afternoon on the phone trying to deal with the scheduling and finally lost my cool towards the end of the day. 

The highlight of the day was getting a gift in the campus mail from a mystery person at work who sent me a glass flying pig. 

Penelope the Pigge

With her head-strong determination and good fortune,

Penelope is the perfect depiction of overcoming impossible odds!

Her personal wager against anyone using the phrase 

"When pigs fly!" has brought much abundance and prosperity indeed!

farewell 2014

I have been resisting the writing of this end-of-year post. Perhaps in part because it's hard to remember what was happening a year ago. I look through my photos from the past year and I see lots of smiles, lots of family trips, and a few trips to the hospital. But I can't really get a grip on what 2014 was. Maybe this sense of disorientation is just a ripple effect: the year ended with a thud. The ACTA2 news has overshadowed most of what I remember about 2014.

I can say that -- on the whole -- 2014 was better than 2013. I think Evan would agree with me that we end the year with an increasing sense of being settled. I defended my dissertation proposal, I started a new job that I love, Evan still loves his job, we are both committed to having more fun and getting outdoors as much as possible. Meditation is creeping into our lives. And, perhaps best of all, Iris has started sleeping through the night, for real. I'm giddy with excitement at the prospect of future nights of fully restful sleep.

As I look ahead to 2015... I mostly see me turning 35. Yikes. But well before that, I see many trips to the hospital, many tests, and many conversations about what lies ahead for Iris. We now have an idea of the road we're on, and we know we are at the beginning.

processing

In high school I played volleyball. Before big games our coach would have us visualize the best possible game we could play. She had us imagine the perfect pass, set, hit. She had us visualize the win. This exercise is helpful now as we process the ACTA2 diagnosis.

Evan and I talked the other night about how we were both processing this new life we've been inducted into. He said he doesn't know how or even if he is processing it. He thinks about it, we talk about it, but processing? Not sure.

For my part, processing involves a creative imagination and visualization of the possible future realities we'll face: waking up to find Iris has had a stroke; getting the news that her intestines are malrotated or that she has gallstones; waiting while she has any number of surgeries on any number of body parts; talking to her about how she can decide for herself what will make her life meaningful; walking, lots of walking outdoors. The more we imagine, the more prepared we will be to respond to the worst of it without panic. Evan liked this idea and said it made him feel better about what he worried might have been just zoning out. 

Processing also involves research and finding others like Iris. I've started doing a literature review on all ACTA2 r179 articles. I've joined a Facebook group specifically for those with her mutation. Evan and I both have considered getting tattoos in honor of Iris. This was something we came to independently.

I'm equally concerned with Iris's physical well-being as I am with her (and our) emotional and spiritual well-being. I'm sorry to admit that we spend far too much time talking about medical issues in front of her. I'd much rather shield her from those conversations at this point and instead focus on fun. Evan has said this in passing a few times -- usually referring to our need for a date night -- that we need to have more fun.

We (or I) have amassed a slew of items to help us figure out how to forge ahead. One of those is a TED talk by Andrew Solomon, who talks about how the worst moments of our lives help make us who we are. His talk is beautifully inspired.