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Race Against Time

A generation ago, Dr. Richard Koch made his mark saving PKU babies. Now he's trying for another miracle: saving the children of his first patients.


Dr. Richard Koch remembers that first miracle baby like it was yesterday.

That was 30 years ago, back when Childrens Hospital of Los Angeles was a shiny, new monument to curvy '50s architecture.

Koch was chief of child development at the hospital and president of the Assn. for Retarded Citizens. A bill had just been signed by Gov. Pat Brown ordering hospitals to screen every California newborn for a disorder called phenylketonuria (PKU), a metabolic disease that eventually can cause mental retardation but that can be treated with a special no-protein diet.

The screening--in which newborns are pricked on the heel for a few drops of blood before leaving the hospital--put an abrupt end to a type of mental retardation that overtook about one in every 12,000 newborns (most often white) and was typically discovered only after parents would notice that little Susie, who looked perfectly fine at birth, wasn't picking up her cup.

"We haven't had a case of a baby institutionalized since then," Koch says. "The program has been remarkably effective."

But after decades of success, a disturbing twist has emerged in what has been one of medicine's happier stories. It turns out that the first generation of PKU patients, now adults who are in their prime childbearing years, may still be at risk.

What's more, the offspring of women with PKU are in danger of being born with mental retardation or other birth defects if the mother does not return to the special diet--which most adults discontinued years ago--before conception or early in pregnancy.

"You have 600 patients with normal intelligence [treated since 1966 in the California program] who are out in society," Koch says. "Half of these people are women. We are very interested in finding these women.

"We have a tremendous potential for prevention here. One mentally retarded baby costs society $1 million."

Only about one-third of these women have been located through California's office for newborn screening or through hospital records, Koch says. Other states have had even worse luck locating PKU patients. In the meantime, it's not known how many babies of PKU mothers are being born with preventable defects.

And that's why Koch, at age 74, can't force himself to retire.


"Yeah, my wife is upset about that," he acknowledges one recent morning over cafe latte in the Childrens Hospital cafeteria. "But my patients keep me going, and these intriguing questions."

With shaggy hair and rumpled casual clothes, Koch doesn't wear the air of the distinguished doctor he is. A sportsman--he fishes, hikes, plays tennis and rides his bike almost two miles to work--Koch exudes the energy of someone 20 years younger. Zest--that word for older people who haven't slowed down--fits him well.

He joined Childrens Hospital in 1951 as an intern. The hospital chief at the time had a keen interest in disabled children, many of whom were mentally retarded. He asked Koch to head a new child development unit that would be devoted to these children. He declined and entered a private pediatric practice.

"I was in a big office and was as busy as could be," he says, tacking a chuckle onto the end of his words, as is his habit. "I decided maybe I had better go back and see what that child development position was all about."

Koch has never looked back, carving a dramatic and important career in the burgeoning field of newborn screening.

"He says he is never going to retire," says his wife of 52 years, Jean, with whom Koch has raised five children. "Even when we travel, it's usually to medical meetings. We mix business with pleasure."

The blend of business and pleasure is what Koch's life is all about.

He decided to become a doctor 50 years ago while pondering his future inside a World War II German prison camp. One of nine children raised in a middle-class family in Petaluma, Koch had earned a scholarship to UC, Berkeley and later attended medical school at the University of Rochester in New York on the GI bill.

A bombardier during the war, Koch learned patience during his 18 months of captivity. And patience is among his greatest attributes now as he tries to resolve some of the remaining questions about PKU after three decades of work on the disorder.

Says Colleen Azen, the biostatistician on Koch's research team: "Dr. Koch pretty much defines the field of PKU research."


PKU is a metabolic disease in which a faulty gene allows too much of the amino acid phenylalanine--contained in many foods--to build up in the blood, causing brain damage. Avoiding phenylalanine in foods, mostly protein foods like milk and meat, keeps blood levels low enough to avoid damage.

While other scientists launched the PKU screening program, Koch leaves his mark on the field through his relentless desire to improve the lives of the first generation of babies treated with the diet; the miracle babies who could have been easily forgotten.

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