What happened to her? (A few questions answered by Stephen)

Angela died on June 25, 2006 from complications due to Marfan syndrome. There was some confusion about why she apparently went so suddenly. It's helping to write about her, so I thought I'd tackle this thorny subject in case people were afraid to ask.


1. What is Marfan syndrome...is it catching?

No; it's not a disease that you get. Your'e born with it; it's a genetic disorder of the connective tissue. There's quite a bit to read at www.marfan.org under the link "About Marfan Syndrome," but the short of it is: people with it tend to have very slender, often quite tall builds. They also have a tendency to have inflexible aortas which are prone to dissecting or developing aneurysms, events which can be fatal.


2. Does it affect anyone else in Angela's family?

Yes. It affects me, Stephen. Angela and I were the first ever in our family line to be born with Marfan. Our brothers John and Gregory do not have it, nor do our parents or any other members of our extended family.


3. If there's no family history, how did you get it, then?

Marfan can develop spontaneously. Because we were first-generation Marfan siblings, the researchers at Johns Hopkins attempting to isolate the gene became interested in our case in 1982, when we were first diagnosed. Our family's genetic history contributed to the discovery of the gene where the mutation resulting in Marfan occurs.

It turns out that our father developed the mutation which was passed on to us. He does not have Marfan, nor does he express any symptoms; he simply was the carrier. The odds of the mutation occurring are approximately 1 in 10,000. Marfan is "autosomal dominant," meaning once the mutation occurs, there's a 50/50 chance that any child of a Marfan parent will develop Marfan. That's exactly what happened in our family: two of four kids developed Marfan.


4. Did Angela have a dissection of the aorta?

She did back in 1995; without her shrewd preparedness, we might have lost her 11 years earlier than we did. Because at the time she was living in a city (New York) with excellent medical facilities, and had lined up specialists in Marfan, when she felt a tearing in her chest, she went in to be checked. It was a Sunday morning at around 10:30; by 4:30 pm they were wheeling her into emergency surgery. She showed that the archetypal Marfan event was survivable, even overcomeable.


5. But was dissection the cause of death?

No. Angela's passing was not caused directly by aortic dissection; if anything, her aorta was successfully replaced with plastic grafts, in three surgeries over 11 years.

Some time during or after the second surgery (in April 2004), she contracted a fungal infection inside the second graft where it met the remainder of her native aorta. The fungal infection went undetected until the third surgery (in May 2006). It accelerated the dissection of various arteries, causing three or four other surgical procedures in 2006. The infection was likely the prime cause of death; by the time the problem was discovered, it was very likely too late to fight off the infection. Because Angela had apparently recovered very successfully from prior surgeries, most people, including me, simply expected her to recover from this round as well, which was why her passing was such a shock.

There's more detail on that subject, which might get covered in a later topic. (Should more detail be of interest to you sooner rather than later, please drop me a line and I'll explain as best I can.)


6. Should we be worried about you, Stephen?

I am certainly feeling a bit more fragile these days. But all the echocardiograms I have had show that my aorta has not dilated beyond the normal range. At my age, I am not expected to need open-heart surgery. (That will not stop me from getting regular echocardiograms, especially now.)


7. Why are you saying so much personal detail, Stephen? Aren't you concerned about privacy?

It is more important to me that other people know and learn from the experience of my sister and I. If her life is to mean anything, it should now certainly stand among other things for Marfan awareness. Angela left money in her unofficial will to the National Marfan Foundation.

So I can no longer stay reticent on the subject; with the passing of my sister due to Marfan, it's in my interest for as many people to know about Marfan as possible.

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