The Face and Life of Marfan Syndrome

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.

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