When Marie Hiagler had her first child, Brianna, she was born just like any normal child. Soon after her birth, however, her mother found that something was not so normal–Brianna spit up whatever she drank. She also threw up whatever she managed to swallow.
Her confused doctors said the child suffered from terrible reflux. Brianna failed to progress like other infants her age; she never was able to crawl of even roll over. After Brianna turned 1, a doctor found calcification in her brain area and diagnosed her with cerebral palsy, but the child didn’t gain weight and had a much smaller head than children with cerebral palsy. Eventually Brianna was diagnosed with an aggressive form of a rare premature aging disease called Cockayne Syndrome.
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Cockayne syndrome affects no more than an estimated one in 100,000 babies, and those with the disease may live into their 30s. Because of the rarity of the disease, it is difficult for doctors to diagnose, especially if it is mild.
"Nobody ever sees them enough to be good at diagnosing," says Dr. Will Sorey, an associate professor of pediatrics at UMC. The disease is caused by a defect in the body’s ability to repair damaged DNA. "We don’t think about our bodies constantly falling apart. Every cell except the central nervous system is constantly repairing itself. With Cockayne Syndrome, that repair does not occur, so those who have it appear decades older."
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While a test can now determine whether someone has the faulty gene on chromosome 4, experts say Cockayne is such a rare disease that treatment options are not on the horizon.
