...and will likely have to go back at least once more in the near future. :P
Turns out the stretch marks on my son's spine may just be a weird quirk of genetics and growing fast, or it could be an axillary manifestation of a truly horrible genetic disorder that could result in what's called an "aortic dissection." That's when some part of your aorta just randomly rips open. People survive this, but the only way to really improve your odds of surviving it above 5% is to be in the same room with a skilled surgeon when it happens. Give or take
So the endocrinologist we went there to see walked us over to the cardiologist, who worked us in for an electro-cardiogram and an echo-cardiogram. Both looked fine. He has a mild mitral valve prolapse, but otherwise seems fine. The cardiologist said he wouldn't do an MRI on his descending aorta unless he actually gets a formal diagnosis of Marfans from either a geneticist or an orthopedist, or if the orthopedist orders one, he will ask that they look at the aorta while they're at it. So.
My honest feeling is that, while my Big Boy and I share some of the characteristics of Marfans (stretch marks along joints in early adolescence despite being extremely thin, long fingers and toes, pectus excavatum/mitral valve prolapse, certain irregularities in the eye and unusual joint flexibility), it is probably unlikely that we have any of the major issues related to that disease. I mean, statistically speaking, if I had a weak aorta, it should have blown by now, and I have no serious cardiac or pulmonary issues or orthopedic issues that I know of. Well, I do have a tricky hip, but hardly the easy dislocations that go with Marfans.
On the other hand, I couldn't blow off the evaluation, because if I did and his aorta blew out I'd just have to throw myself in front of a train for incurably bad parenting.
I do feel that we have been blessed with extraordinarily competent and caring doctors. I love them all. But I'm exhausted.
Turns out the stretch marks on my son's spine may just be a weird quirk of genetics and growing fast, or it could be an axillary manifestation of a truly horrible genetic disorder that could result in what's called an "aortic dissection." That's when some part of your aorta just randomly rips open. People survive this, but the only way to really improve your odds of surviving it above 5% is to be in the same room with a skilled surgeon when it happens. Give or take
So the endocrinologist we went there to see walked us over to the cardiologist, who worked us in for an electro-cardiogram and an echo-cardiogram. Both looked fine. He has a mild mitral valve prolapse, but otherwise seems fine. The cardiologist said he wouldn't do an MRI on his descending aorta unless he actually gets a formal diagnosis of Marfans from either a geneticist or an orthopedist, or if the orthopedist orders one, he will ask that they look at the aorta while they're at it. So.
My honest feeling is that, while my Big Boy and I share some of the characteristics of Marfans (stretch marks along joints in early adolescence despite being extremely thin, long fingers and toes, pectus excavatum/mitral valve prolapse, certain irregularities in the eye and unusual joint flexibility), it is probably unlikely that we have any of the major issues related to that disease. I mean, statistically speaking, if I had a weak aorta, it should have blown by now, and I have no serious cardiac or pulmonary issues or orthopedic issues that I know of. Well, I do have a tricky hip, but hardly the easy dislocations that go with Marfans.
On the other hand, I couldn't blow off the evaluation, because if I did and his aorta blew out I'd just have to throw myself in front of a train for incurably bad parenting.
I do feel that we have been blessed with extraordinarily competent and caring doctors. I love them all. But I'm exhausted.
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