Two weeks before her sister suffered an aortic dissection and nearly died, Danielle Sullivan said they shared a conversation that now haunts her.
Sullivan, 35, and her sister Cacharel Davis, 37, were discussing the rare genetic disorder they share — Marfan syndrome — and the risks that come with it. Affecting 1 in 5,000 people, Marfan syndrome is a condition that weakens the body’s connective tissue and can lead to premature death if left untreated.
“I was like, ‘You really need to see a cardiologist.’ And she told me she didn’t have insurance. And I was like, ‘Even if you have to pay out of pocket, this is something serious and we need to stay on top of it,'” Sullivan said. “And here we are now, it happened.”
Before the advent of surgical procedures like open heart surgery, people with Marfan syndrome were only expected to live to be 30 or 40 years old.
Today things are different.
Experts say that with early diagnosis and treatment, people can avoid life-threatening complications and live normal lives. But awareness and continued monitoring are essential.
In an interview with NJ.com, Davis said she should have known better.
“Recently, I’ve been trying to tell myself, ‘It’s not your fault,'” said Davis, who is bedridden and awaiting open-heart surgery. “But at the end of the day, it’s something I should have gone to the doctor for.”
A hard lesson
While growing up in Jackson Township, Sullivan and Davis were told they needed to be more careful than other children. While everyone sprinted into the gym and signed up for sports, they were forced to stay apart.
The physical exertion, they were told, could kill them as it had killed their father.
Howard B. Winkler died in 1994 at the age of 35 from complications of an aortic dissection and aneurysm. The family only learned later that he had Marfan syndrome, which significantly increases the risk of aortic dissection, which is a tear or rupture between the layers of the aortic wall.
According to the Marfan Foundation, a nonprofit organization created to raise awareness and promote research, there is a 50 percent chance that someone with the disease will pass on the mutation when they have children. Genetic testing confirmed that Sullivan and his sister had inherited it.
“As kids, we were always told that we couldn’t do anything that was strenuous for our bodies, because when you do something strenuous, your heart works faster and pumps more blood, and then it ends up stretching, and that’s how you can ultimately get an aneurysm or a dissection,” Sullivan said.
Researchers have since learned that people with Marfan can tolerate moderate physical activity. However, for a long time, Sullivan and his sister played it safe. They attended annual echocardiograms to monitor heart function and took blood pressure medications to reduce risks.
“My mom always explained to us how serious it was and how important it was to make sure we stayed on top of our annual visits and checkups and those kinds of things,” Sullivan said. “But I think as we’ve gotten older, and I think because we were diagnosed at such a young age, it maybe didn’t hit us as hard as it should have at that time.”
Over the years, the rigidity of their lifestyle has loosened. They started working out and stopped taking medication. They became mothers. In other words, they found themselves caught up in life.
Although Sullivan continued to have annual echocardiograms, Davis hadn’t had one in years. Sullivan brought it up with his sister in mid-August, but Davis ignored him.
“Anyone who knows me knows that I put myself last, even on regular doctor visits. I make sure my kids go to their doctor, but I don’t put the same energy into myself,” Davis said. “I know I should have stopped and listened to my body and I didn’t.”
Two weeks after the sisters spoke, on Aug. 31, Davis was at home struggling to plunge into the toilet — she is the mother of two teenagers, after all — when she felt a sensation in her back, one of the symptoms she had been told to expect if she ever had an aortic dissection. She quickly called 911 and was taken by ambulance to the emergency room, where she was then flown to another hospital and admitted to the intensive care unit with an aortic dissection and an aortic arch aneurysm.
A lack of awareness
A report published in 1989 on the surgical treatment of patients with Marfan found that overall survival was not good: the average life expectancy of patients was only 32 years.
Today, “the outlook has never been better,” said Dr. Alan Braverman, director of the Marfan Syndrome and Aortopathy Center at the University of Washington and a member of the Professional Advisory Council and Board of Directors of the Marfan Foundation.
“We have effective therapies, preventive surgeries and life-saving treatments. So we expect people with Marfan syndrome to get older. That’s the goal.”
People with Marfan syndrome have an abnormality in the protein fibrillin, which is one of the building blocks of the body’s connective tissue and helps maintain the shape and function of the skeleton, eyes, and aorta. Some people with Marfan have visible signs of the disease, including long arms, legs, and fingers, a curved spine, an indented or protruding chest, and flexible joints.
But not everyone has recognizable signs of Marfan syndrome. Experts estimate that almost half of people with Marfan syndrome don’t know it.
And that is the real danger.
“If you don’t know you have it, you don’t have an assessment. And if you don’t have an assessment, the aorta will continue to enlarge and get big enough that it can tear or burst or dissect,” Braverman said. “Just like a burst pipe in your house can flood the floor, it can make you bloodless. You can bleed out from a dissection.”
Davis knows how close she came to that fate. After spending almost three weeks in the intensive care unit, she was finally discharged on September 17. Even though she is home now, she still has a long way to go. She can barely get out of bed, takes three medications a day and monitors her heart rate while awaiting open-heart surgery.
Braverman said that “unfortunately” situations like Davis’ are “not uncommon.”
The cost of annual visits and daily medications may be too much for some people, especially if they struggle to pay other living expenses.
“A lot of times it involves a young person and a lot of times, even if they have insurance, they have a high deductible plan. And those tests cost money, et cetera,” Braverman said.
But, he added, “it’s a big deal. That’s why the importance of routine assessment and monitoring cannot be overstated.”
A message for others
While her sister was in the hospital, Sullivan started a GoFundMe campaign to help ease the family’s financial burden. The campaign raised more than $20,000 as of the end of last week.
Sullivan also began sharing her sister’s story — in person and on social media — with anyone who would listen.
“I knocked on every door I could knock on to get my sister’s story out there and just get some help and support while we’re going through this because she’s my sister, my only sister,” Sullivan said.
A few days after her sister’s hospitalization began, Sullivan was contacted by the Marfan Foundation. Although the nonprofit organization does not provide direct financial support, it can help patients find resources and experts near them. The organization connected Davis with a cardiothoracic surgeon, who will now be part of his medical care.
“Because two volunteers connected Danielle’s family with the Marfan Foundation family, we were able to help her through the medical journey and also provide some comfort through our Sidney Lerman Fund,” said spokesperson April Dawn Shinske. “We will be there for the family as they face the journey ahead – with everything from free support groups to our help and resource center that answers medical questions, with the goal of helping sisters and their extended families thrive for years to come.”
Even though things are improving, the sisters are still shaken. Sullivan can’t help but think that she’s the same age her father was when he died. She wants her family’s story to be a lesson for others.
“So what happens in my family, no one else ever has to feel that way,” Sullivan said.
Gn Health
