As you know, February is National Heart Disease month, and, as such, it’s also National “Have a Heart for Marfan” month. I’m also kind of relaunching this blog after being mostly on hiatus since August.
To that end, I thought I’d post some info, trivia, etc., regarding the Marfan syndrome and related disorders. This is is copied and pasted from a post I did to our homeschool group, so forgive formatting errors. 🙂
Mary recently found out about a foundation based in Charlotte called the Luke Pier Foundation. They don’t say they’re Catholic, but they’re a Christian familyof ten, and Luke has a bulging aortic aneurysm, pectusexcavatum (sunken chest) and long limbs and fingers. These are all classic aspects of Marfan syndrome, butthe diagnostic criteria are now stricter, so rightnow, they just know Luke has some kind of “connectivetissue disorder.” Anyway, they raise money for bothresearch and for medical assistance to families:http://www.thelukep%20ierfoundation.%20org/
Speaking of diagnosis, there are a number ofhistorical figures who are hypothesized to have had Marfan or some related condition. Usually it’s figures who
a) were extremely tall and/or hadextremely long fingers and hyperflexibility, but also
b) had lifelong health problems.
1. Anyone who’s heard of Marfan has probably heardthat it was “Abraham Lincoln’s disease,” but it’s increasingly doubtful he had it. Lincoln did havechronic lifelong health problems, but they were mostlyunrelated to Marfan, and an article came out oa fewyears ago that found a genetic disorder in his closestliving relatives which explains his health problems.
2. Niccolo Paganini: One of the most famousviolinists and violin composers in history, Paganinidid things that were considered impossible. He was sopale and boney and sickly that people thought he hadmade a deal with the Devil. A doctor describedPaganini as having normal sized hands but incrediblylong, elastic fingers (in fact, that was the originaltrain Marfan identified). In 1978, a theory wasadvanced that Marfan syndrome would explain bothPaganini’s amazing violin abilities (due tohyperflexibility and long arms); his strange, skeletalappearance. His sickly complexion and increasing illhealth late in life would have been consistent withaortic aneurysm.
Other musicians known or speculated to be Marfans include Sergei Rachmaninoff, Joey Ramone, and Robert Johnson.
3. Pharoah Akhenaten was history’s first monotheist. He revolutionized Egypt with his new religion, but itall went back to normal after his death. His son,Tutenkamen, is more famous to history due to hisinfamous “tomb” but didn’t do much as Pharoah due tohis early death at 18.Akhenaten is always depicted as extremely tall andthin, with disproportionately long arms and legs,different from any other king. Since there’s beenEgyptology, archaeologists have debated why Akhenatenwas drawn so differently: Was it his differentreligion? Was he gay? Then, in the 1990s, an Egyptologist happened to hear alecture on Marfan syndrome and suddenly realized thatthat would explain Akhenaten perfectly. However, theofficial authorities in Egypt find the propositioninsulting and are fighting to quash the theory.
4. Apropos to the history of Catholicism in the UK,Mary, Queen of Scots, is believed to have had aMarfan-like disorder, given her *extreme* height forher era (much taller than most men of her day),thinness, etc.
5. Famous Posthumous diagnoses include _Rent_composer Jonathan Larson, University of Marylandbasketball star Chris Patton and Olympic volleyballstar Flo Hyman (I met her sister! She said I wascute, and she picked me up and turned me in the rightdirection when I went the wrong way ddown a hospitalcorridor!) We made headlines again in June 8, 2004,when Florida State basketball player Ronalda Piercedied of undiagnosed Marfan syndrome.
6. You have have heard of the “God Squad,” Msgr. TomHartman and Rabbi Marc Gellman. Rabbi Gellman hasMarfan syndrome and acts as a celebrity spokesman. Fr. Hartman and Rabbi Gellman are both outspokenlypro-life. Fr. Hartman, who has Parkinson’s, hasstarted a foundatino to promote research that does notuse embryonic stem cells.
7. Actor Vincent Schiavelli had Marfan syndrome,although he died of lung cancer. He was a bigsupporter and “celebrity” for the NMF, but he is mostremembered in the Marfan community for how hismentorship of the kids (I never met him).
8. There is a theory that Osama bin Laden has (orhad? Depending on whether he’s dead) Marfan syndrome:his body structure is very Marfanoid, and he has longbeen known to have had heart problems. He has 24 hourcare from a personal physiciand and walks with a cane.
9. Another famous Marfan is John Hathaway, featuredin the children’s book, _How John Was Unique_, writtenby Joseph and Nancy Hathaway. sadly, it’s currentlyout of print: the first time I’ve seen it to be such. There’s another book called _A Very Special Mouse_,but I say, without bias, that it’s rather lame. Ittends to emphasize, “Why am I so funny-looking, andwhy do people laugh at me?” My parents’ book is morealong the lines of _Curious George Goes to theHospital_.10. I was also one of the 1,000 patients in the studywhere they found the mutation that causes Marfansyndrome, the gene now known as FBN1 on chromosome 15.Marfan syndrome is a defect in a protein calledfibrillin, which is both foundational to connectivetissue and a shut-off protein for Human Growth FactorBeta. There are 10,000 nucleotides on the Marfangene, and in a study of 1,000 mutations (they foundthe gene by matcihng the DNA of known mutations to ourparents), they found my exact nucleotide mutation in 3people–the odds were astronomical. Hoping taht it’ssomehow a more common mutation, they asked me todonate a skin sample–which I did–back in 1995,taking a deep chunk out of the back of my arm to getmy stem cells.
11. Allie’s prognosis is quite good. They’ve beendoing all sorts of research on a drug calledLosartan/Cozaar, which seems to act chemically similarto fibrillin. It has not only slowed but completelycured the aortic aneurysms in lab mice with Marfansyndrome. Subsequent evaluation of the lab mice showsthat it’s reduced dural ectasia (the equivalent of ananeurysm in the lining of the spine), subluxation ofthe lens, and other problems. They’re doing clinical studies on humans, but Allie’saorta isn’t big enough for her to be eligible. Butshe saw Dr. Shuler here in town on Tuesday, and hesaid that, as soon as the clinical studies show anypositive results in humans, he’ll put her on Cozaar.
I, for one, have been on Cozaar for a year now, and ithas done amazing things for me.