The Face and Life of Marfan Syndrome

May 1, 2008 — -- The moment he was born, Mathew Rudes was whisked away before his mother could see him. Doctors wanted to find an explanation for his extra long body, malleable head and folded limbs before facing his parents.

"They wouldn't show Matt to me and I knew something was wrong, because he's my third child," said his mother, Carol Rudes.

She said she remembers the doctors warning her that her son had no bones in his feet and that he had brain damage. Then the nurses began consoling her, quite sure her baby would die before he left the hospital.

They were wrong, in many ways.

Rudes lived, wrote a book before he was 11 years old and graduated valedictorian of his law and government magnet high school in North Hills, Calif. Now 21, he is due to graduate with honors from the University of California Los Angeles this spring and then head off to law school in the fall.

He did all this despite suffering agonizing complications from a severe form of Marfan syndrome, a genetic mutation historians believe affected Abraham Lincoln and ancient Egyptian pharaoh Tutankhamen.

Fighting Since Birth

Rudes has something to say to anyone who has been misdiagnosed, has a disability or has fought the words "you can't."

"I have survived my disabilities, I have survived my pain syndrome and I have survived the burning gaze of people who assume that I must be mentally retarded because I am in a wheelchair," Rudes wrote in a memo to ABC News.

"You cannot let disability, pain or worse -- people's assumptions -- rule your life; this is my life mantra. I live or die by these words," wrote Rudes.

Rudes is not kidding about life or death. The first assumption he and his mother fought was that his condition would kill him.

One in 5,000 people have Marfan syndrome, a mutation in the fibrilin1 gene that affects the production of the protein fibrilin in connective tissue. As a result, connective tissue in the body can weaken, affecting the eyes, blood vessels, skeleton, heart and skin.

Marfan syndrome may be mild and only diagnosed in adulthood or it can be severe and evident at birth. Marfan patients often grow long and lean, well above 6 feet for both sexes. Their joints may become extremely flexible and weak, they may develop scoliosis and the lenses in their eyes can begin to dislocate.

But what causes the most concern is the aorta, the artery that delivers blood from the heart to the body, because it may loosen, expand and tear.

The geneticist who diagnosed Rudes at birth is amazed that he's living at all.

"Mathew is probably one of the oldest surviving, if not the oldest surviving infantile Marfan case," said Rena Falk, a geneticist at Cedars-Sinai Medical Center in Los Angeles. "Most patients with infantile Marfan syndrome are dead long before age 22."

To survive, Rudes endured 13 surgeries: two major heart surgeries, several orthopedic surgeries, eye surgery -- and a lot of pain. He was legally blind as a child and lost the ability to walk shortly before middle school.

At school, Rudes excelled despite missing months of classes. At the hospital, Rudes developed yet another debilitating complication -- chronic pain.

Pain or Mind Games?

"If pain is not treated well, it can develop a life of its own," said Lonnie Zeltzer, Rudes' doctor and director of the Pediatric Pain Program at Mattel Children's Hospital of The University of California Los Angeles.

"We now know in pain medicine that, especially during childhood, if pain is not well-treated you actually start changing the development of your nervous system," Zeltzer said.

When Rudes had too little pain medication after a surgery, his nerves kept up a constant firing of pain signals, which in turn resulted in a buildup of chemicals called neurotransmitters.

These chemicals slowly changed some of the nerves that feel pressure, warmth or cold, into nerves that carry pain signals, Zeltzer said.

"It ups the volume and the amount of traffic of pain signals from your organs, from your skin going to the nerve fibers in the spinal cord," she said.

Over time, the high volume of pain signals actually changed how his brain interpreted messages, creating haywire warnings.

At one point Rudes' system devolved so much that his brain could interpret even the slightest touch as excruciating pain.

An example of one such touch happened in 1995, when Rudes was lying in his hospital bed covered in bandages after an orthopedic surgery.

"I left his side to go get a soda down the hall," said Carol Rudes. "The only thing that was exposed were Mathew's toes."

While she was out, a pediatrician walked into the room.

"For some reason he touched Mathew's toes and that sent him into such pain his heart rate went up; he was screaming, alarms went off and they had to call the cardiologist," Carol said. He only calmed down after receiving an IV of Valium.

Rudes continued to develop intense pain after his recovery. Much of it is a blur to him, but his mother remembers watching her son suffer.

"He had seizures, he would go blind for short periods of time, and he would have just incredible pain and he was just forced to scream out," Carol said.

At one point Rudes became so desperate, he tried to commit suicide by swallowing a handful of blood thinners. The pain was so intense and the cause so elusive, Rudes' doctors thought he was crazy.

"It was just -- the manifestations of the pain syndrome were just unique, that there weren't any physical explanations," he said. "The easiest way to explain it was that you were faking it."

Rudes' mother is less forgiving of those who misjudged the situation.

"I remember having a big talk with the pain team and the psyche team. … I kept saying just give him a chance, I know this is not psychological, it's not," she said.

Finally, doctors found some explanations. For one, Rudes had needed his gall bladder out for nearly a year.

His doctors also did an MRI scan and discovered little pockets, or sacs, along his spine that were pooling and leaking spinal fluid. These pockets, called dural ecstasias, occasionally develop as a result of Marfan syndrome.

While there is no procedure to safely remove dural ecstasias, there are drugs to ease his pain: OxyContin, Ketamine, methadone, Valium and liquid morphine for serious breakthrough pain.

Victorious, yet Pain His Hardest Battle

"Sitting right before me is a 30-day pill box -- each day has a morning, afternoon, night container of around 10 or so pills," Rudes said. "That's enough to kill a whole middle school."

Rudes said he feels as though he emerged from a dark mist, now able and ready to play what cards fate has dealt him.

He's bedridden for most of the day and can stand up on his own long enough to pivot into his wheelchair. His mother drives him to school and assists him on his way to class. Rudes says he spends the rest of his days at home, "where I man the helm of my hospital bed as I study, read books and play the occasional video game."

"I always felt that if I had no other problems than just being in a wheelchair, I'd have a wonderful life," Rudes said. "It's all the offshoots of pain that contribute to a very complicated web indeed."

For more information on Marfan Syndrome, visit The National Marfan Syndrome Foundation