Marfan syndrome made my brother beautiful. Then it killed him.
March 14, 2021
I was ten years and a week old when my brother Trey was born. We were poor, living in a single-wide trailer in rural Alabama coal country. He was a joyful baby, quick to smile and laugh. He and I bonded immediately — which was lucky, because we shared a bedroom (and bed) until I moved out for college at 18.
As he grew up, it didn’t take long to realize what an entertainer he was — wickedly funny, and with seemingly endless social energy. If he couldn’t make you laugh, he’d make sure to get a reaction out of you one way or another — even if it meant showing you how he could twist his arm 360 degrees or bend his fingers back to his wrist.
He seemed to mature fast. He was smart as hell, and he developed his own taste in music far quicker than I did — with equal parts Post Malone, musical theater, and The Beatles. He’d imitate my tongue-in-cheek sense of humor and end up doing it better than me. He outpaced me in height, too. By the time he was 16 and I was 26, he broke six feet (an inch taller than I’ll ever be) with long legs, long arms and a long, chiseled face.
Little did I know, but his body was trying to tell us all along. He had all the signs. But by Sept. 28, 2020, it was too late. The looming danger foretold by his features claimed his life that afternoon.
One in every 5,000 to 10,000 people lives with a condition called Marfan syndrome, a genetic disorder that affects the body’s connecting tissues. Many don’t know they live with the condition, which can kill if left untreated.
My brother was likely one of them. If I had it my way, he’d be the last sudden death from undiagnosed Marfan.
Marfan is a rare condition, but if detected early, it can be treated. In the last few decades, the life expectancy of Marfan patients has skyrocketed. Today, with the proper treatment, a person diagnosed with Marfan syndrome can live just as long as anyone else.
“There was a time when Marfan was a death sentence,” said Dr. Abe DeAnda, chief of cardiovascular and thoracic surgery with the University of Texas Medical Branch. “You weren’t going to live through adulthood, probably weren’t going to have kids.”
DeAnda specializes in surgery of the aorta, the largest artery in the human body and one of the main areas of concern for people with Marfan syndrome and related conditions.
Marfan syndrome is caused by a mutation in a gene called FBN1 and it is what’s called an autosomal dominant condition. That means if one parent has the mutation, their child has at least a 50 percent chance of inheriting it. If both parents have it, their child is guaranteed to have it as well. And since it’s caused by a gene mutation, a child can be born with Marfan despite neither parent having the condition. About 25 percent of cases are caused by those new mutations.
That gene, FBN1, controls the body’s production of a protein called fibrillin-1, which provides structural support and elasticity to the body’s various tissues. But since Marfan syndrome patients have mutated versions of FBN1, their fibrillin can end up forming differently than most people’s. That’s what can cause outward signs to manifest — like unusual height, length of limbs and digits, and spontaneous stretch marks.
It also causes thinning in the walls of the aorta, which can lead to a dangerous condition called aortic dissection — a tear in the artery, usually near where it connects to the heart. Aortic dissection can lead to death, and is the number one killer of those with Marfan syndrome.
“The main symptom is severe pain, and it can be kind of anywhere in that area,” said Dr. Gregory Perens, pediatric cardiologist and Marfan specialist at the University of California, Los Angeles Children’s Heart Center. “The chest, the back and it can extend to the neck or stomach. The pain is described as sharp, tearing, ripping or moving. It’s urgent, very urgent that they get to the E.R.”
Thanks to advancements in surgery, those who make it to the operating table often survive. Some doctors, like DeAnda, can perform this surgery so well that patients don’t even need a blood transfusion. Still, proper treatment means never getting to that point in the first place.
“The reality is, about 40 percent of [aortic dissection] patients are going to die, if they make it to a hospital,” DeAnda said. “The other cold reality is, most people never make it to the hospital.”
Today, we have medicines that can keep the aorta from growing too quickly and tearing, or at least prolong the process so that surgery can be planned ahead of time, before things get dire.
“Once someone gets diagnosed with Marfan, they’re going to get put on one of these blood pressure lowering medications,” Perens said. “And they’re going to be screened regularly, at least once a year.”
So with an early diagnosis, medication and proper checkups, someone with Marfan syndrome can go about their life without having to worry too much about a life-threatening emergency springing up. But without all that, it could just be a matter of time before the worst happens.
I’ve been something of an early bird ever since my days in the Air Force. Naturally, I woke up before my brother on Sept. 28, a Monday. I knocked out some classwork, and before long, his alarm went off and he got up. We played a few songs on Rock Band together, drank some coffee and talked about how much fun we’d had on Friday with my new friends from school.
When it was time for one of my Zoom appointments that day, he went back to playing guitar on Rock Band — “Panama,” by Van Halen. He had a distinct head-bob he’d do while playing that song and only that song. I could see his hair whipping and waving to the beat in my peripherals.
When my appointment finished, he had already stopped playing for a few minutes.
“I have a really bad headache,” he said, clutching the right side of his head.
I grabbed him some ibuprofen. He took it and went to lay on his bed, waiting for the headache to pass. I decided to take a shower.
I’ve always showered at a leisurely pace — ask anyone in my family, and they’ll tell you it’s true (probably with more than a hint of exasperation). Sept. 28 was no exception; after I washed my hair, I let myself enjoy the warm water for a while.
I heard Trey’s voice a couple of times. Yelling at a videogame, I thought. The headache must’ve passed quickly. After a few more minutes, I turned the water off.
I heard my brother’s voice again immediately.
“Marcus, I need a doctor,” he cried out.
I got dressed, though I could’ve done it faster, and I went to him. He was huddled over the toilet, vomiting and crying in pain. My pulse seemed to magnify, but it didn’t quicken. I tend to stay cool in a crisis, but I could feel my little brother’s terror. I tried to project a sense of calm, to alleviate his fears by treating this like no big deal.
I walked to the kitchen and grabbed the first cup I saw, a stainless steel Yeti tumbler. I filled it with water, walked back to the bathroom and set it beside him.
“Drink some water,” I said. “It’ll probably help.”
He nodded weakly, reached out to grab it, pulled it in and took two sips. Then he set it against the wall, behind the toilet to the left and heaved.
I called our mom, not wanting to act too hastily and incur a crippling ambulance bill that could be avoided. I’ve always been acutely aware of how poor we were; even as a kid, I’d refuse to let our parents buy snacks and drinks for me anytime we stopped at a gas station on the way back from church.
Money might seem inconsequential in a crisis, but worrying about my parents’ finances is a deeply ingrained reflex. It kicked in hard that day.
Mom assured me, though, that this seemed like a true emergency, so I hung up and called 9-1-1.
In the 12 minutes that passed before the ambulance arrived, I packed a bag with some of Trey’s essential belongings: phone, wallet, charger, deodorant, toothbrush, toothpaste and a change of clothes. I tried to keep him talking. He quickly lost the ability to stand or walk, sprawled out on the floor by the toilet. His answers became shorter and quieter. Eventually, his eyes quit opening and he quit speaking. I kept trying to get him to talk.
“Can you still hear me, Trey? Is it worse? Better? The same?” I asked him.
His mouth moved a little, but no sound came out. Then I noticed his right hand rocking back and forth. Trey was making the signs for “yes” and “no” in American Sign Language, determined to stay in communication with me.
His right hand quit moving before the paramedics ever got to us.
As they rolled him away, strapped into a wheelchair, I lingered for a moment. Through all the commotion of lifting his 6’2” body into the chair, there sat the stainless steel Yeti tumbler, undisturbed, still full of the water I poured for him.
I couldn’t bring myself to touch it; it sat there, where Trey left it, for four months.
Trey suffered a catastrophic brain hemorrhage — not an aortic dissection — but that’s sort of irrelevant. What really killed him was the fact that none of us knew he had Marfan.
“A lot of people don’t know anything about Marfan, and that includes doctors,” DeAnda said. “When I worked in New York, I can’t tell you how many people found out they had Marfan the morning they woke up after surgery.”
But most who don’t know that they live with Marfan syndrome never wake up again after getting to that point. Eileen Masciale, chief operating officer of the nonprofit Marfan Foundation, said it happens all too often.
“Jonathan Larson, who wrote the Broadway show ‘Rent’ — he didn’t know he had Marfan,” Masciale said. “He goes to the hospital for chest pain, they don’t think ‘aortic dissection.’ They think something much more benign, like food poisoning. Take two pills, go home, you know, kind of thing. And he died at home alone.”
Doctors with little experience treating Marfan syndrome sometimes miss the diagnosis because they’re focused on one particular part of the body. In those cases, it can be easy to overlook signs of Marfan that show up elsewhere.
“The signs that are easy to see are long arms, legs and fingers,” Perens said. “A curved spine, which is scoliosis, having an abnormal chest bone that either sticks in or sticks out; flexible joints, flat feet, crowded teeth or stretch marks. Those would all be signs that would suggest someone should be evaluated.”
But if doctors can miss the signs, how is anyone supposed to catch it? DeAnda said that genetic testing has come a long way, but it’s still expensive — and Marfan syndrome is rare enough that it doesn’t make sense to test everyone. Instead, it’s often the people in the Marfan community who tip others off to get screened for the condition.
“There was this blog post that we posted last week about a woman who was shopping in Costco,” Masciale said. “Somebody [at the store], a stranger, asked her if she’d heard of Marfan, and so she went to get checked out. And she needed surgery, aortic surgery, and then her mother and sister got diagnosed and one of them needed surgery.”
So spreading awareness is the most important thing anyone who knows about Marfan syndrome can do.
My family and I are talking with our doctors about Marfan now, and we’re all going to be tested for it soon. We’ve already reached out to a few other family members with some of the same signs, too. It was a painful way to find out, but at least now we know. We can look out for it.
“What happened to your brother is the wrong way to get diagnosed,” Masciale said, referring to Trey. “The idea is, diagnose early, and not at autopsy. Really, I mean, it shouldn’t be happening still. Shouldn’t be happening.”
When it’s diagnosed early, modern medicine has a proven roadmap for treating Marfan. But the fact is, those living with the condition will almost certainly need medication and frequent doctor visits. In America, that can mean sky-high medical bills.
“Marfan is a genetic disorder, right? I would guess it’s an expensive thing to treat, with a high morbidity,” said DePaul University law professor Max Helveston, who teaches healthcare and insurance law. “So before the [Affordable Care Act], insurance companies would never insure anyone who they knew had it. Or they could say, ‘We’ll issue insurance to you, but you have to pay a ton.’”
A 2018 study published in the health economics journal Value in Health found that the average cost of a common outpatient visit for those with Marfan syndrome was $1,412. Marfan patients who needed inpatient care stayed in the hospital an average of nearly eight days, with an average cost of $22,477 per visit.
“What you typically saw was, people with very chronic conditions would not be able to get access to private insurance,” Helveston said. “They would either forgo treatment for whatever they have, which is awful, or they would be bankrupted by it. So basically, if you were chronically ill, or had a serious, long-term condition, it was just like, you’re doomed to poverty.”
Since the passing of the Affordable Care Act, however, those with Marfan have largely no longer needed to choose between bankruptcy and foregoing treatment. And thanks to the 2008 Genetic Information Non-discrimination Act, neither employers nor insurers can discriminate based on someone’s genetic composition. That includes the genetic mutations that cause Marfan syndrome.
So once someone is diagnosed, they can rest easy knowing that there are proven treatments for Marfan syndrome, that there are specialists around the country, and that health insurance is available. But that’s not the end of the story for those living with it, nor for those whose loved ones do.
“It’s also important to have quality of life,” Masciale said. “What happens between the doctor’s appointments, you know? It’s about connecting with community.”
The Marfan Foundation provides that in many ways, both online and in person, Masciale said. The Marfan Foundation has a chapter near Chicago, and there are other support groups in communities around the country and on social media.
“You don’t want to suffer by yourself,” Masciale said. “And you’re not a patient, unless you’re in the hospital. You’re just somebody who has Marfan. It doesn’t define you. One of the doctors said in one of our recent webinars that you are not your genetic code. You are a person, you have a condition, deal with it, take care of it. Pay attention to what the doctors say, and live a great life.”
“You don’t have to do it by yourself.”
I picked up that steel tumbler off the bathroom floor the other day. Trey won’t be finishing the water I poured him, but he’s not done affecting this world.
I’ll make sure of it.