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Boys with extremely rare disease, found only in 200 people around the world

Boys With Extremely Rare Disease Found Only In 200 People Around The World

Jeffreu Ortega,31, in Florida, USA has an extremely rare disease called Proteus Syndrome. Only 200 people have the disease around the world. 

Boys With Extremely Rare Disease Found Only In 200 People Around The World 1

Jeffrey’s left foot is 17 inches in circumference and 14 inches long while his right foot is 14.5 inches in circumference and 12 inches long.

His mother, Alicia, found his right index finger swollen when Jeffrey was 9 months old. Thinking that it was a mosquito bite, she did not take her to see a doctor.

One year old, Jeffrey’s left leg grew longer than his right leg, the doctor diagnosed with Proteus syndrome. Since then, Jeffrey’s feet have become bigger and bigger, forming masses of jagged flesh, attached toes causing pain and inconvenience in daily activities. He travels in a wheelchair, does not fit shoes.

Jeffrey said that he could walk with my bare feet, but it is very painful and uncomfortable as if he were walking on glass, he often fell. He quit school because the principal didn’t want to handle the problems he caused.

Boys With Extremely Rare Disease Found Only In 200 People Around The World 2

25 years old, Jeffrey intended to remove the left foot but failed because the house was too poor, not enough to afford surgery for $ 40,000.

On January 9, Jeffrey appeared on an episode of TLC’s My Feet Are Killing Me, with her famous mother and surgeon Brad Schaeffer.

Dr Brad said Jeffrey’s bones and left foot tissue are still growing, advising him to stop walking barefoot completely to avoid infection. He also denied Jeffrey’s desire to amputate legs, saying that “bone will grow again after surgery”.

Jeffrey was measured his foot to create a custom-designed shoe that fits oversized feet and helps relieve pain.

Proteus syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization of the embryo (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic).
Only nearly 1% of the world’s population suffers from this syndrome, according to the National Institutes of Health.

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