Knowing signs of Marfan Syndrome can save lives

SPRING, Texas - A family from Spring is helping spread the word about Marfan Syndrome, because an early diagnosis has really helped their beloved daughter.

Callie is a typical nine-year-old in many ways. She loves golf, fishing, and playing fetch with her dog. You can even find her stirring up a sweet, sticky mess with her parents. They are incredibly proud of her.

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"She has this really funny, goofy personality, that just makes you laugh and she's the wittiest, quickest little kid I've ever come across," says Callie's mom, Jamie.

Callie has never let a diagnosis of Marfan Syndrome slow her down.

"Marfan Syndrome is a genetic condition that affects multiple systems in a person's body. And when I say it's genetic, it means it's due to alterations in the DNA. In this case, it's an alteration of just one gene in our human genome called the FBN1 gene. This causes people to grow. They tend to grow very tall, with very long arms and legs. They can have problems with their eyes, specifically something called lens dislocation, but the most serious complication is what happens to the cardiovascular system," says Dr. Diana Milewicz. She's the President of the George HW Bush Chair of Cardiovascular Medicine and Director of the Division of Medical Genetics and Vice-Chair of Internal Medicine at McGovern Medical School at UTHealth. 

While she's not Callie's doctor, she has helped many families dealing with Marfan. She and the Efurds want everyone to know the symptoms aren't always obvious.

There were a few signs when Callie was younger, but not heart-related.

"She was constantly running into people and in hindsight, those are some of the things that now I know, but at the time I was like gosh Callie, you're not paying attention, you're running into people, and just never thought that vision would be an issue," says Jamie.

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She had other subtle signs, like holding books or her iPad really close, as though it was hard to see, and then a few other less obvious ones, like being in the top percentile for height but lower for weight. Then her parents finally pieced it all together with a team of doctors when she was four years old. Their pediatrician referred them to an eye specialist. That doctor suspected it was a cardiologist they needed to see.

"It was crazy. We'd never even been to a cardiologist before and we were having to take our four-year-old daughter to one," says Callie's dad, Justin.

"I think I was in another world for a few days, until we finally got into the cardiologist, and then we had to actually get in touch with a geneticist, which I learned that there are not very many geneticists in the world," says Jamie.

They found out one of their biggest goals would be to protect Callie's heart, due to her condition.

"In people with Marfan Syndrome, the very beginning part of the aorta, right near the heart is weak, and over time it enlarges, and that's called an aneurysm. If we don't diagnose the condition and monitor that aneurism and treat it properly, then it can lead to something called an acute aortic dissection and that can cause sudden death," says Dr. Milewicz. 

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Callie will be closely monitored for years to come and will have a preventative surgery long before that potentially dangerous situation occurs.

"We can prevent the aortic dissections and sudden deaths if we know who has it, monitor the aorta, treat the patient with some minor drugs to prevent the growth of the aorta. But ultimately we have to go in and repair the aorta and take out that diseased segment and actually put in man-made material called an aortic graft," explains Dr. Milewicz.

Most can wait until adulthood for that surgery. For now, Callie can just enjoy being a kid.

"My favorite subject is math and I'm basically in the fifth grade now. My favorite thing is to eat lunch, play video games, and stay up late," smiles Callie.

The Efurds have relied on The Marfan Foundation as a major resource through all of this, for everyone from experts to those "who know" and understand what they're going through.

"In the case of Callie, it's always important to be able to connect with other kids their age. It's always nice to know that you have someone else out there with similar traits or facing similar situations as you, and that helps any child," exclaims Jamie. It sure is helping Callie, and she's thriving in her loving, caring environment.

For more information, https://www.marfan.org