I couldn’t care less about the medical issues that are the ostensible subject of this Health Journal column from the Personal section of today’s Wall Street Journal. The column touches on several themes, including an Apple computer and accompanying CD program that save the day like the deus ex machina in ancient Greek drama. But the power of a mother’s devotion to her child is certainly the column’s strongest theme.
The column is by Kevin Helliker, subbing for the Journal’s regular health columnist Tara Parker-Pope. The column is titled “A mother’s mission: When you just know the doctors are wrong,” and the photo below depicts the subjects of the column, Karen Murray and her son Michael.
“A child born with a rare ailment can only hope for a mother as persistent as Karen Murray. The instant her son was born she noticed he seemed different. Her doctors shrugged, saying he was fine. But something was wrong, and it took her five years to get the answer.
“It’s a condition five times more common than cystic fibrosis and similarly fatal. Whereas doctors offer pregnant women screening for multiple conditions such as CF, this one gets almost no attention, for the scariest of reasons: The average doctor knows next to nothing about it.
“This wouldn’t matter if the condition were untreatable. But early diagnosis of this condition boosts life expectancy to nearly 70 years from about 40. Indeed, this condition is significantly more treatable than many ailments doctors regularly seek to find. But most doctors aren’t looking for this one, and don’t recognize it when they see it.
“Ms. Murray’s son had a litany of puzzling symptoms. Newborns’ hands usually are balled into fists. But his hands were open — his fingers bent backward. He had a dislocated hip. Why, she asked. It means nothing, the doctors said. Just keep him in a harness for a while.
“His name was Michael and she wanted him to be perfect. But Ms. Murray, 35 at the time, hadn’t risen to the top ranks of Liz Claiborne Inc. by ignoring imperfections, and she wasn’t about to start with her child.
“‘He was floppy,’ she says. As a toddler, he couldn’t sit straight in a high chair. His limbs and fingers were extraordinarily long and bendable, as if made of rubber. His chest was deeply indented. He was dramatically taller than other children. Yet unlike his father, her broad-shouldered husband, Michael was thin, even flimsy. Also, his lungs became infected every time he caught a cold.
“A college-educated New Yorker with deep professional and personal resources, Ms. Murray sought out and visited the city’s top pediatric specialists. She took Michael to see an orthopedist, an orthopedic surgeon, an occupational therapist, a joint-disease specialist, even a neurosurgeon. Not to mention his regular doctor, ‘the best pediatrician at Mount Sinai,’ says Ms. Murray.
“Michael was diagnosed as ‘hypotonic.’ This meant her now four-year-old had low muscle tone. Since it shed no light on why he had low muscle tone, the diagnosis was meaningless but benign. Why not stop worrying? She heard this from her husband, her doctors, her friends.
“Only her own mother believed her. Once, in the pediatrician’s office, Ms. Murray’s mother asked whether excessive height could indicate trouble. The pediatrician’s response: ‘Worry if your child doesn’t grow.’
“The breakthrough came on Michael’s fifth birthday. His mother bought him an Apple computer, and with it came a CD called Family Doctor. Instead of sleeping that night, Ms. Murray sat in his dark room, scrolling down a list of unusual disorders.
“When she came to Marfan’s Syndrome, the description floored her. ‘I can still recite it: A connective-tissue disorder. Fingers contracted backwards at birth. Taller than their peers. Arms and legs disproportionately long. Indentation in chest bone. Weak lung tissue.’ Then came this news: The aorta, the body’s largest artery, can grow weak, enlarge and rupture, causing sudden death.
“That morning Ms. Murray took Michael to Mount Sinai Hospital. After measuring his arms and legs, doctors agreed he had Marfanoid characteristics. They suggested that he return in three weeks for an echocardiogram of his aorta. Ms. Murray demanded it now. ‘I was crying hysterically,’ she says.
“When the doctors emerged from the scanning room, ‘they were white as a ghost,’ she says. They told her she had been right to seek an immediate scan. Michael’s aorta was twice normal size. He was immediately prohibited from engaging in strenuous activity. He was also placed on beta blockers to lower his blood pressure and reduce strain on his aorta.
“The treatments seem to be working, since the artery hasn’t grown in seven years. In most Marfan’s patients the enlarged section of aorta eventually needs to be replaced with synthetic hose, but in children the hope is to forestall that very serious surgery until adulthood, says Harry Dietz, a geneticist at Johns Hopkins University Hospital in Baltimore who now is Michael’s doctor.
“In its classic presentation, Marfan’s is a series of symptomatic non-life-threatening conditions that collectively point to a treatable fatal problem that will exhibit no symptoms until too late. Marfan’s afflicts about 200,000 Americans, compared with about 30,000 with cystic fibrosis. But fewer than half of Marfanoid Americans know they have it, estimates Reed Pyeritz, chief of medical genetics at the hospital of the University of Pennsylvania. Many of these cases won’t be diagnosed until the victims die young and suddenly of an aortic weakness that could have been repaired.
“In part this failure to diagnose reflects the absence of a simple screening test. But when a fashion executive on a home computer makes a diagnosis that New York City’s finest pediatric professionals missed, clearly physician cluelessness is part of the problem too…”
UPDATE: Reader Dr. Hal Gallimore writes: “In my first year of medical school I was taught that a good indicator of something being wrong is that the mother of a child thinks that there is something wrong. In my second year of medical school I learned about Marfan: pectus excavatum (indented chest), unusual height, disproportionately long limbs as well as other possible indicators. In the picture in the blog the boy’s face looks like it has normal proportions. It would be nice to have a picture of him standing next to his mother so that we could see his arms and legs in comparison to his body along with the same comparison with his mother.
“The television show ‘ER’ had a patient with Marfan killed because the doctors did not recognize it. I do not watch it anymore because the language on the show has become rather vulgar, perhaps paving the way for participants in the current Democratic primary to conform to ‘changing social standards.’
“The article was very good. I am sure that many of the doctors that saw Michael have at least read about Marfan but perhaps had never seen it in a child and therefore did not recognize it. Hopefully they will include it in residency training if they have not done so already. Thanks for the great blog.”
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