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Detecting Problems

The Beaumont Enterprise

Only $25. That's all it would have cost to prevent their son from suffering the brain damage that has stunted his mental development.

Jamie and Bryan Oliphint, 36 and 37, of Bridge City, say that their 6-year-old son Jonathan has the mind of a child half his age.

"You love your child but you also grieve for the child that could have been," Oliphint says. "Why couldn't they have caught this sooner?"

Because of their son, the Oliphints have a heartfelt cause. They want to encourage new mothers to pay for a medical test that screens newborns for 30 rare metabolic disorders - a test that they did not know about when their son was born.

Jonathan suffers from argininosuccinic aciduria (ASA), a metabolic disorder that prevents the liver from breaking down protein, leaving toxic deposits of ammonia in the body, especially in the brain.

About one in every 70,000 babies is born with ASA. Most newborns with ASA build up ammonia in their bodies within the first week or two and begin to throw up milk or formula. Some go into comas. Once hospitalized, a battery of tests usually will reveal a high ammonia level and metabolic tests will show ASA.

Jonathan seemed normal when he was born, but gradually showed signs of delayed development. He didn't walk until he was 21 months old. At age 2, he stopped wanting food with any kind of protein in it - meat, peanut butter, eggs, cheese, milk - and was having absence seizures, staring off into space. When he was 3, a neurologist ran a metabolic panel test and discovered ASA.

"The doctor called me on the phone and gave me this big long name," she says. "I thought 'Oh! There's something we can fix now!'"

ASA is treated with a low protein diet and an amino acid supplement, but left untreated, it can cause brain and liver damage, high blood pressure and death.

Jonathan's parents are hoping that his mental condition will improve over time with therapy and treatment, but they are angry that physicians did not catch his ASA sooner.

While all states require that newborns be screened for selected congenital disorders, requirements vary from state to state, says Gina Steiner, spokeswoman for the American Academy of Pediatrics. For example, only a few states screen for cystic fibrosis, toxoplasmosis or HIV.

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