When he was 3 years old and falling behind in his childhood development, doctors diagnosed Jonathan Oliphint with a rare genetic disease.

There was a known treatment for the disease, in which the body produces an excess amount of ammonia, and doctors at Texas Children's Hospital soon began giving the boy a critical amino acid, arginine, his body was not making.

It was a classic case of the power of the emerging science of genetic medicine in which doctors could pinpoint the genetic causes of disease, and devise successful treatments.

That was the late 1990s, when genetics was a simpler science.

Problems return

The problem is, as scientists were discovering that the Human Genome Project and its elucidation of humanity's basic DNA would not immediately lead to medical breakthroughs, Oliphint started getting sick again.

He started having high blood pressure. By the time he was 15, half a dozen blood pressure medicines had failed, and Oliphint was in the ICU with an enlarged heart.

"They just couldn't get it under control," said the boy's mother, Jamie Oliphint. "It was scary. We didn't know what was going to happen."

As Oliphint's blood pressure problems increased, scientists were rewriting our understanding of genes and disease.

No so simple

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In saving teen, docs find "simple" genetic diseases not so simple

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