Marfan Syndrome Patient is Defying the Odds.
May 8, 2008 by Liz Lewis
Filed under Children, Extreme, Genetics, Health, Heart Health, Misc., disability
Meet Mathew Rudes, a 21 year old college student due to graduate with honors from the University of California Los Angeles this spring and will attend law school in the Fall.
But Mathew is not your average college student. He wrote a book before he was 11 years old and was valedictorian of his law and government magnet high school in North Hills, Calif.
And he did all this despite being inflected with a severe form of Marfan Syndrome, a genetic disorder that causes the mutation of the fibrilin1 gene. This mutation causes the body’s connective tissue of the eyes, blood vessels, skeleton, heart, and skin to weaken. As a result, their joints can become weak and over flexible and they often develop scoliosis. But most concerning is that the weak connective tissues of the blood vessels could easily result in aortic aneurysm or dissection – a life threatening situation.
1 in 5,000 people have Marfan Syndrome but many only have a mild form that is discovered in adulthood.
Mathew, on the other hand, suffers from severe Marfan Syndrome and according to Rena Falk, a geneticist at Cedar-Sinai Medical Center in Los Angeles, is “…probably one of the oldest surviving, if not the oldest surviving infantile Marfan case…”
Mathew is defying the odds.
Having Marfan Syndrome and dealing with all the painful complications that go with it has not stopped him from pursuing a full and purposeful life.
Here’s what he has to say…
“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.”
“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.”
Words we could all live by.
You can learn more about Marfan Syndrome at the National Marfan Syndrome Foundation.
(Source: ABC)
