Archive for category Marfan Info
Some of you may remember that my wife has a genetic condition called Marfan syndrome. If you do, you might remember that the syndrome can cause serious problems with the eyes and heart. Both are treatable with surgery; in an ideal world, you’d deal with each problem as it comes up, and spread the surgeries over at least a period of several years.
Unfortunately, Tami didn’t get to experience that ideal world.
About this time last year, she experienced sudden vision loss in one eye while working, which didn’t clear up on its own. We went in, and found that her eyes had deteriorated to the point that she needed surgery to preserve her vision. Although only one eye was not working right, the other was on the verge of failing in the same way.
Then came the normally routine pre-surgery checkups. This time, however, was anything but routine; the cardiologist declared that she had entered the “danger zone” for heart complications. This would require open-heart surgery to fix.
All ended well. Five surgeries later (three on the heart, plus one each per eye), she’s back to normal, and even has the best vision she’s ever experienced. But I don’t recommend doing so much so quickly (four months from the first to the last).
Everyone with a special interest in a topic has probably experienced the same thing once that topic is covered in the news: excitement over the coverage, followed by disappointment when the piece makes mistakes. Some of this is inevitable; journalists are only human, and they are asked to cover subjects all over the map. Sometimes, however, the mistakes are too great to be chalked up to human frailty. This is bad enough for interests such as computer technology, chess, or stamp collecting; it’s much worse when the subject involves a potentially life-threatening illness.
Such is the case with a new story on Marfan syndrome (apparently part of some news conglomerate; see, for example, this version of the story). The story means well, and any attention is good attention to some degree. But the inaccuracies are annoying:
- “…height is in no way a criteria for Marfan Syndrome.” True. Yet, given two equal groups, one with Marfan and one without, which group will have the higher average height? Being tall is not part of the criteria, but it can be an important warning sign, especially when coupled with lankiness, long fingers, etc. Will anyone read that and decide to ignore their own physical signs? I hope not.
- “The Marfan Syndrome Web site, www.marfan.org…” It would be nice for the National Marfan Foundation to get proper attribution. Besides it being a marvelous resource, it is responsible for helping reach many of the medical milestones that make the lives of Marfan patients better.
- “…and the eyes may appear normal without a special exam until the lens dislocates.” Normal-looking eyes are a criterion for Marfan? I welcome training for optometrists and opthamologists in detecting ectopia lentis as a sign of Marfan, but I wouldn’t go so far as to say that everyone with normal-looking eyes should be tested in the absence of other signs.
- The good doctor quoted often sounds like an idiot; this is a good sign that the quotes are getting mangled by the journalist. For example: “The aorta can expand silently for a long time, until the aorta tears or ruptures, which is deadly, or there can be tearing, which is life threatening and can lead to death.” (So how do we distinguish between tearing that is deadly and tearing that is life-threatening?) Even worse: “Most people who are referred to me and my colleague, who is one of the early discoverers of Marfan, don’t have the Marfan Syndrome.” (That colleague must be really old, given that Marfan was discovered in the 1890s!) I’ve seen domain experts misquoted often enough to believe that these quotes should reflect on the reporter or her editors, not the doctor.
Excessive criticism on our part tends to make journalists defensive, and can result in their avoiding complex and obscure topics, which punishes us rather than the journalist. So, there’s a question about how much of a fuss people should raise, especially since most of the objections here are minor (though I would not discount the discussion on height, which can serve as an excuse for those looking for reasons not to get checked out).
But it does make you wonder. If journalists are this bad when talking about subjects you know, are they really any better when talking about subject you don’t know?
As most of our family and friends know, I Tami have Marfan Syndrome. I am over 6 foot tall and have the longer features in my hands and feet like most other Marfan’s do. One is born with this condition and can have mild or very severe symptoms. Most all have one if not more heart problems. The most popular amongst us is an enlarged aorta. This causes us to need to stay out of most physical sports. The sad thing is that being very tall and very agile are great features to have sports, but very fatal for the athelete that has Marfan. Many of these atheletes do not know they have Marfan Syndrome until they drop dead on the court. A simple e.k.g. done on the heart would let them know. Please look over the link below to the National Marfan Foundation and see if you or a loved one might have this syndrome.
The National Marfan Foundation
As most of you know that I Tami have a rare syndrome called Marfan Syndrome. It is thought that Abraham Lincoln had this also. Now I have found a site where people think they have found tombs with 1500 year old Marfan Syndrome skeletons in it. This is exciting to think they might be able to trace this back so far. Here is the site