For the last 7 years, we have been told we had Marfan Syndrome. That is, until we went to St Louis and saw Dr Angela Sharkey (pediatric cardiologist) and Dr Alan Braverman (adult cardiologist). After a lengthy session revealing our family history, Dr Sharkey said she didn't think we had Marfan Syndrome. She thought we had Loeys-Dietz Syndrome. When we walked out of her office, I was totally shocked, but I still had to see Dr Braverman. He agreed. When we left St Louis, my whole world had changed. As if Marfan Syndrome wasn't bad enough, we had to have Loeys-Dietz. You see, w/ Marfan Syndrome, your main risk is of an aortic dissection (burst open), leaky heart valves, scoliosis, detached lenses in your eyes. Ok, bad, but manageable. But with Loeys-Dietz, you are not only at risk for aorta dissecting, it is all the major vessels in your body (aorta, renal arteries, carotid arteries, iliac arteries), oh and the risk includes ruptured uterus, bowels. There are some things w/ Loeys-Dietz that we don't have: a split uvula (that hangy down thing in the back of your mouth), cleft palate, skulls that fuse too early. All three of us have the hypermobility (Kai is the worst), Linnea was born w/ a foot that was close to being a club foot and both feet were so flat the big bones on the inside of her ankles almost touch the floor. Kai has the pigeon chest, but only on the left side. We all have stretch marks. We all have scoliosis. Kai has dural ectasia.
Kai's aorta is now at 4.7cm. Mine is at 4.4cm and Linnea's is at 3.2cm. A "normal" adult's is 3.0. A Marfan patient would have their aorta replaced at 5.0cm, but someone w/ Loeys-Dietz has even more fragile vessels, so they have dissected as early as 3.0cm. Thus, the need for Kai and I to have our aorta's replaced. Our CT scans showed no other vessels that were dilated. Thank GOD for that!
I have had the DNA test verified our worst fears. I got that phone call on Friday, July 25th. I have been reeling since.
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