Saturday, November 21, 2009

Rare Disease Turning Girl, 5, to Crystal

A 5-year-old girl from the U.K. must take a daily cocktail of drugs to avoid the cells in her body from turning to crystal, the Daily Mail reported.

Lillie Sutcliffe from Castleford, West Yorkshire in England suffers from a rare condition called cystinosis. The condition causes an amino acid, cystine, to accumulate in various organs of the body including the kidney, eyes, liver, muscles, pancreas, brain and white blood cells. It primarily affects children and without specific treatment, kids with the disease will develop end stage kidney failure at approximately age 9, according to the Cystinosis Research Network.

The condition is so rare, it is estimated that only about 2,000 people worldwide suffer from it, although the numbers are unclear because the conditions is often undiagnosed or misdiagnosed.

Doctors discovered Lillie had cystinosis after scanning her eyes and finding crystals, the Mail reported.

“I had never heard of the condition, so I was a bit shocked to hear what it did,” Lillie’s mom, Laura, told the newspaper. “It means Lillie's body essentially turns to crystal.They just load up inside her. If it wasn't treated she would turn into stone eventually because it attacks all the cells.”

Although the condition can be partially treated, there is no cure.

“This is an excessively rare condition,” Dr. Kay Tyerman, a pediatric nephrologuist told the newspaper. “It's usually present in children who are not growing properly in the first few years of their life.”

Fox News

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