Marfan's Syndrome

We've known since Melissa was 13 that she had Marfan Syndrome, a connective tissue disorder that can affect aortas, heart, joints, veins, even the connective tissue that holds the retina of her eyes.  We hadn't given Marfan's much thought lately as her checkups didn't indicate much concern.

But Thursday night proved otherwise.  After several hours of trying to get transfer clearance to first Stanford Medical, then UCLA, then SF, we were encouraged by an E.R. Doc friend of mine that his first choice would be Cedars Sinai in L.A.  They welcomed us and the helicopter with 2 nurse crew flew Melissa there in under an hour.

Karin and I and Melissa's friend Mark Fogarty drove our car the 3.5 hours to L.A and found Melissa in good hands.  Here we have met Dr. Khoynezhad.  Pronounced coin-izod.  He's considered by many to be the best Thoracic Aortic Surgeon in the country.  He is associate professor of surgery and Director of the Thoracic Surgery center here. We found soon he also seems to be a kind, patient and confidence- inspiring man.

Here Melissa got a Sonagram scan of her heart and thoracic area.  I am amazed at the detail and precision information that can be obtained.  The Sonagram and CT scan showed the dissection is very long, all the way from the top of the heart to her waist.  Even so, in 95% of cases no surgery is called for.  It tends to heal itself.  And in melissa's case since she has Marfan's there's really nothing to do but keep her blood pressure down.

It is very painful, however.  She is on pain meds that make her groggy.  And it that didn't do it, the intra-veinous blood pressure reducers surely will.  Even with the pain meds her back hurts a lot.  The meds seem to make her cold and then hot.  She's sleeping a lot and we're attending to her.  The nurses here have been great -- helpful and kind.

While reviewing the scans of her heart Dr. K. observed the Aortic root (where the ascending aorta enters the heart) had swollen or aneurized significantly.  This became much more of a concern to him than the aortic dissection.  He said she needed that fixed within a few months.  As we had read before in our research of Marfan's, when you "elect" to pro-actively repair the aneurism problem before it breaks, there is a 99% success rate.  If surgery is postponed until the aorta fails it is often unsuccessful.