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.
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.
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.
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.
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| Fake smile pre-MRI. |
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| A little zony after the MRI, but still wants Mama's phone. |
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.
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