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Tags: Katrina McClimans | Marfan | syndrome | diagnose | Atlanta

Atlanta Woman Diagnoses Herself with Marfan Syndrome

Atlanta Woman Diagnoses Herself with Marfan Syndrome

By    |   Tuesday, 08 November 2016 12:39 PM

"Don't give up on yourself if you think you have a medical problem, but your doctor says you're OK," says Katrina McClimans, a 30-year-old Atlanta, Ga., woman who diagnosed herself with Marfan syndrome. "Trust your instincts."

That's exactly what McClimans did, and her persistence probably saved her life.

Marfan syndrome is a genetic disorder that affects the body's connective tissue which binds the body's organs and tissues. According to The Marfan Foundation, about 1 in 5,000 people have the condition.

Its best-known association is with our nation's 16th president, Abraham Lincoln, who exhibited the tall, thin, body coupled with long arms, legs and fingers that characterize Marfan. Scientists have long suspected he suffered from the syndrome.

"I've always been tall," McClimans told Newsmax Health. "I'm 5 feet 11 inches tall, but since my dad is 6 feet 4 inches it's not surprising I ended up tall."

There were things, though, that she wondered about. "My skin has always been stretchy — really stretchy," she says.

"If I pull the skin on my stomach, I can pull it out 6 inches, if not more," she said. "I didn't realize it was abnormal, because how often do you pull on someone else's skin?"

When she began working as a cosmetic nurse, however, she became aware that stretchy skin wasn't normal.

"I actually had to pull on people's skin to see if they were eligible for a procedure," she said. "I thought, 'Man, nobody is as stretchy as I am.'"

McClimans didn't worry since she had gone to doctors her entire life and no one had said anything.

Then a medical course she was taking mentioned Marfan syndrome and the pieces began to fall into place. She began researching Marfan online. "I found I had a lot of little features that you don't normally hear about such as flat feet, a lazy eye, narrow palate of the mouth, and extreme flexibility.

"I never connected them, because by themselves, they don't mean anything, and there was no family history of Marfan," McClimans said.

McClimans went to her family doctor and asked for a referral to a geneticist. "The geneticist did an initial genetic workup and didn't think anything was wrong," she said.

"The doctor found all of the signs I found, but kept saying, 'That's probably a coincidence' over and over.

"I was unconvinced by the diagnosis, so I went to another geneticist."

The second doctor found a genetic marker for Marfan. About 75 percent of people with Marfan inherit a mutated gene, but the mutation can be spontaneous. McClimans doesn't know if hers was inherited or spontaneous.

McClimans was sent to a cardiologist for an exam since a life-threatening symptom of Marfan is aortic enlargement. The aorta, which carries blood from the heart, becomes enlarged, forming an aneurysm or bulge. If it tears (aortic dissection), it is often fatal.

An echocardiogram revealed McClimans had a 4 centimeter aneurysm. "The cardiologist said he wasn't very worried and to come back for another echocardiogram in five years." He also told her it was safe to start a family.

McClimans, however, was concerned. Her research had found that having children was very dangerous for someone with an aortic aneurysm. She also realized that sports she had participated in, including weight lifting, had put her in danger.

Once again, McClimans got a second opinion: Another echocardiogram revealed the aneurysm had quickly grown  to 4.8 centimeters.

She was scheduled for surgery at Emory University Hospital, and the aneurysm was safely repaired.

Today, she is quickly recovering and looking forward to a future that includes children, although she'll need to undergo a cesarean section to be safe. "I'll be able to lead a normal life except no heavy weight lifting," she said.

She urges people not to give up if they think they have a medical problem that is being ignored.

"If you think something is wrong, don't panic, but do your research. These things are worth looking into, especially if it's a weird thing, because the first doctor you see might think it's nothing."


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Don't give up on yourself if you think you have a medical problem, but your doctor says you're OK, says Katrina McClimans, a 30-year-old Atlanta, Ga., woman who diagnosed herself with Marfan syndrome. Trust your...
Katrina McClimans, Marfan, syndrome, diagnose, Atlanta
Tuesday, 08 November 2016 12:39 PM
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