A Test That Failed

On the day Sierra Creason was born at Los Alamitos Medical Center, her parents thought they had the perfect baby--until they brought her home.

The life just seemed to vanish from the girl’s eyes. Her smiles disappeared and were followed by endless tears. On some days, she slept for 14 hours at a time, yet appeared lethargic during waking hours.

After dozens of medical tests and frantic visits to emergency rooms and pediatricians, the Creasons discovered why. Sierra was born without a thyroid--leaving her growth dramatically stunted. It’s a rare condition that a state-mandated blood test failed to detect.

Because the test is fallible--and the results so crucial--most states in the nation demand a second exam for newborns, to detect cases just like Sierra’s.

But California is an exception.

In a landmark decision, the 4th District Court of Appeal in Santa Ana recently ruled that the state of California could be held responsible for Sierra’s medical problems, which might have been reversed if discovered in time.

“The [state] is required, not requested, to conduct screening tests that are accurate and conducted in a medically approved manner,” Justice William F. Rylaarsdam stated in his written ruling.

The decision represents the first legal test of a California law requiring health officials to screen all newborns for genetic diseases. If the Creasons are successful when their case goes to trial in Orange County Superior Court, it could alter testing of every child born in the state.

Attorney Donald Currier, representing the state, disagrees with the appellate court’s ruling and said he is likely to appeal. California’s testing standards are not intended to detect every case of genetic disease in newborns, he said.

Attorney Harrison W. Sommer, representing the Creasons, said he plans to seek millions of dollars to help pay for the little girl’s medical expenses, which totaled about $300,000 last year.

Beyond that, the Creasons want a revision in the state’s newborn screening procedure, which they say could prevent other parents from having to stand by and watch their child die “a slow death.”

“I’d like to think, hopefully, that after this, other parents wouldn’t have to go through what we went through,” said Claudia Creason, 28, who was living in Buena Park when Sierra was born. The family has since moved to Desert Hot Springs.

A second test, which costs about $30, could have pinpointed Sierra’s problem in time for her condition to be treated, Sommer said. He also contends that the state withheld critical information that would have alerted the Creasons and their pediatrician to seek a second blood test on their own.

“The state has the monopoly,” Sommer said. “They set the standards. They control the information. . . . The ramifications are great. So many children are impacted by this day by day.”

Sierra’s disorder--hypothyroidism--wasn’t discovered until six months after her birth, when the damage done remained severe and irreversible.

Because of her body’s inability to produce adequate thyroid hormone, Sierra is considered a dwarf--the medical term used for someone whose growth is so dramatically retarded. The 6-year-old faces life in a wheelchair and a host of medical problems, including pulmonary diseases, cerebral palsy and scoliosis, which is an abnormal curvature of the backbone.

“The doctor told us, ‘I don’t know how this could have happened,’ ” Claudia Creason said of the physician at Children’s Hospital of Orange County who discovered the cause of Sierra’s medical woes. “He told us that if we hadn’t brought her in, we probably would have found her dead in her crib in the next two weeks.”

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Sierra takes thyroid hormone pills to jump-start her growth. But even now, her body is developing at a level about half her age, and her bone structure, including her hands and feet, is growing at an even slower rate.

She wears an infant’s shoe size, and her clothes would fit an average 4-year-old, her mother said.

Intellectually, she is trapped inside her own mind. She understands everything happening around her, but she can’t react like other 6-year-olds. For example, she feels fear but can’t scream, her mother said.

“That’s hard for me, because I think it makes the whole thing even more painful for her,” Claudia Creason said.

Each day, Sierra takes 22 different kinds of medications and is assisted by two home-care nurses. She visits her doctors three to five times a week. Last year, she contracted pneumonia 13 times. Many Christmases and Easters have gone by with her lying in bed, between the white walls of a hospital ward, her parents said.

To avoid exposing her to diseases, the Creasons have transformed their home into a protective cocoon. The carpet is vacuumed daily, the air is purified and no one is permitted to wear shoes inside.

On their front door, the Creasons posted a sign barring visitors who have been sick within the last 72 hours. Sierra’s 10-year-old sister, Savanna, has scribbled an additional admonition: “And wash your hands.”

Sierra enjoys visitors, but greeting them with a simple hug takes “all she has out of her” and leaves her gasping, Claudia Creason said.

“We take it minute by minute here,” the mother said. “Literally, every breath is a hurdle for her.”

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According to the American Academy of Pediatrics, Sierra’s condition, in which both the pituitary and thyroid glands are dysfunctional, is extremely rare: Only one in every 25,000 to 50,000 babies born in the United States each year is stricken by it.

Babies who are born with this condition appear normal at birth because they are temporarily protected by their mother’s thyroid hormone, said Dr. Stuart Stein, chief of neurology at Children’s Hospital of Orange County.

“Early detection is critical,” said Stein, who is directing a research project on hypothyroidism.

Sierra’s case drove CHOC’s Dr. Bruce Buckingham to appear before a panel of state health services officials five years ago and ask that they reconsider testing procedures for newborns.

But state health care officials--backed by some doctors--defend the state’s screening process for newborns as more than adequate.

Under the state’s Hereditary Disorders Act, newborns are tested for four genetic diseases that are treatable, including hypothyroidism. There is no consensus in the medical community on whether to require follow-up tests for newborns in case of a false result.

It’s just not cost-effective, some critics said, especially since conditions like Sierra’s are so rare.

A second screening of all California’s newborns, which numbered about 540,000 last year, would cost millions in medical costs for insurance companies, the state and individuals. Testing on newborns currently costs about $20 million annually, said Dr. George Cunningham, who directs the state’s newborn screening program.

Generally, test results are solid. Only about 1 in 30,000 newborns who are retested are found to have hypothyroidism, according to the Council of Regional Networks for Genetic Services in Atlanta, Ga.

“Millions have been retested [in other states] and a minuscule number of cases were found,” Cunningham said. “So it’s just simply not cost-effective to subject the whole population after they’ve paid for the test the first time. . . . No system, no matter how detailed and how well-designed, is going to pick up every case.”

State officials believe a better solution would be to educate physicians to look for telltale signs of genetic diseases.

Other experts said the medical profession has an obligation to do all it can to detect genetic diseases in time. A second screening is warranted, no matter how much the cost.

“The symptoms are not always present, and that’s why the [second] test is so important,” said Dr. Ridha Arem, an expert in hypothyroidism at Baylor College of Medicine in Texas. “You cannot waste much time.”

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Sierra’s blood test was negative for hypothyroidism, but showed low levels of the substances present in the thyroid and pituitary glands. That should have raised concerns and flagged doctors to the need for a follow-up test, the Creasons’ attorney said.

Adding to the Creasons’ grief is the knowledge that the $30 saved by not performing a second test cost their daughter a normal life.

“I don’t know if my daughter is ever going to take her first step,” Claudia Creason said. “If we just would have been told, chances are my daughter would be running around like a normal 6-year-old right now.”

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How to Spot Hypothyroidism

Hypothyroidism stunts growth because of the body’s inability to produce enough growth hormone. Some of the signs parents might see that could indicate the disease:

* Swelling of the tongue; sometimes face appears to be bloated

* Bluish skin color

* Change in crying patterns

* Weak muscle tone

* Low body temperature

* More prone to jaundice

* Constipation

* Bone-growth abnormality

* Uncommon lethargy

Sources: American Academy of Pediatrics, American College of Obstetricians and Gynecologists, Baylor College of Medicine; Researched by THAO HUA / Los Angeles Times