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Parents want more screening for disorders in newborns

Sunday, January 30, 2000

By Anita Srikameswaran, Post-Gazette Staff Writer

Kaitlin Humes has done her best to deal with the hot flashes, mood swings and inexplicable crying she goes through as her ovaries teeter on the brink of shutting down completely.

But it's hard. After all, Kaitlin is only 5 years old.

  Michael Metil, 6, whose genetic disorder caused severe brain damage, is held by his mother, Cay Welch. (Andy Starnes, Post-Gazette)

She has a rare metabolic condition called galactosemia, which has impaired her learning ability, thinned her bones and could cloud her vision with cataracts. The disorder also has spurred the hormones that have activated Kaitlin's ovaries to overwhelming heights for a child. She likely will go through menopause before she ever menstruates or has the chance to bear children.

Some of her difficulties might have been avoided if Kaitlin, of Butler, had been tested for galactosemia at birth. She wasn't, however, because the hospital where she was born - like 20 percent of Pennsylvania hospitals - didn't routinely perform the screening test. They don't have to: The state neither requires the test nor pays for it.

That might soon change.

Parent advocates of children who have rare but screenable disorders and state Rep. Dennis O'Brien, R-Philadelphia, are working to expand the number of tests that must be performed on newborns. Currently, the 150,000 babies born in Pennsylvania each year are tested for four disorders: phenylketonuria, congenital hypothyroidism, sickle cell disease and maple syrup urine disease.

Tests exist for about 30 conditions that, if they aren't treated promptly, can turn seemingly healthy infants into children with severe mental and physical handicaps, or can kill them. For some disorders, effective therapy may be no more complicated than changing a baby's diet.

Recently, O'Brien and concerned parents were told by officials from the Pennsylvania Department of Health that a few additions may be made to the panel of newborn screening tests within the next few weeks. And the Health Department's newborn screening advisory committee will meet with them in late February to discuss what other tests should be made mandatory.

Among the added tests that apparently are under consideration are ones for galactosemia and for congenital adrenal hyperplasia, in which a defect in the body's steroid-producing mechanism can impair the blood's salt balance. If it's not recognized immediately, the imbalance can kill a baby.

Although delighted by the goodwill of health officials, Kaitlin's mother, Beth Humes, hopes that all appropriate new tests will be added soon.

"Time is critical," she said. "These babies just don't survive if the testing isn't done."

Kaitlin turned yellow

Beth Humes and her husband, Jeff, learned the hard way about the damage that can occur when screening is delayed.

Babies with galactosemia have little or none of an enzyme that breaks down the sugar galactose, commonly found in breast milk, dairy products and many other foods.

The sugar buildup can delay mental and physical growth, inflame the liver and destroy the kidneys. According to one state health department, an untreated child has a 70 percent chance of dying.

But the Humeses, like many parents, knew nothing about the condition when their smiling, dark-haired girl was born in October 1994.

So they fed her a milk-based formula. By the time she was 4 days old, she was turning yellow from liver damage. The rag doll that was Kaitlin was placed in an isolette in her birth hospital. Doctors didn't know what was happening to her.

When she was 9 days old, her near-constant crying stopped because she just ran out of energy. That same day, she was transferred to another hospital and there, more tests were run and galactosemia finally was diagnosed.

The Humeses were told that their firstborn baby was not likely to survive. They had her baptized in the hospital.

Then Kaitlin's parents waited and prayed. At one point, when Beth was about to drop off from exhaustion, a nurse tapped on her shoulder. Believing the worst had happened, she thought: "I don't think this is the time. I am not ready to let go."

Luckily, she didn't have to. Kaitlin was awake and playing with her fingers. The change to a soy-based formula had been made quickly enough to save her life.

While Kaitlin healed in the hospital for the next month, her parents learned as much as they could about this mysterious disease. They examined the list of other diseases a newborn could be tested for and wondered why this wasn't done for Kaitlin when she was born and why some tests were required by the state and others weren't.

"From that point on, we decided it was our mission in life to have this mandated to stop other children from suffering," Beth Humes said. "There are children who have lost their lives."

The effort she and her husband dubbed "Kaitlin's Krusade" is one of several parent-driven missions here and across the country to persuade state governments to expand the number of routine newborn screening tests.

"I felt guilty after we found out that she could have been born in a hospital that did the [expanded] screening," Beth Humes said. "I would have gladly gone to a hospital that offers it."

The standard tests

Right now, the heel of every baby born in Pennsylvania is pricked for the few drops of blood needed to test for four conditions.

Phenylketonuria, or PKU, is caused by the inability to process the amino acid phenylalinine, which is commonly found in protein-rich food, such as meat. Left untreated, it causes irreversible brain damage.

Congenital hypothyroidism is a condition in which the thyroid gland is underactive from birth. When not treated early with thyroid hormone replacement, it can cause growth failure, brain damage and deafness.

Sickle cell disease is characterized by abnormal red blood cells and can kill a baby within a few weeks from anemia and infection if not recognized and treated.

Maple syrup urine disease, so named because of the distinctive sweet odor it gives to patients' urine and sweat, is a disorder in which several amino acids cannot be metabolized correctly. It can cause lethargy, convulsions and death in newborns.

The company that holds the state contract to conduct these mandatory tests for all Pennsylvania hospitals is Neo Gen Screening Inc., which is based in Pittsburgh. It is paid about $9 per newborn, but some hospitals pay about $20 more for Neo Gen to perform additional tests on the blood samples.

Such parents as Marsha Endlich of Freeport support broadening the mandatory testing, because in her case it probably spared her child a severe disability.

Endlich's son, Joshua, 2 1/2 , was born in Allegheny Valley Hospital, which routinely had extra tests performed by Neo Gen. Within three days of his birth, she learned that Joshua had galactosemia, the same problem that Kaitlin Humes has. Like her parents, the Endliches had never heard of the disorder.


Detectable Disorders

Some of the metabolic disorders that can be detected by newborn screening tests.


"To me, he looked healthy," said Marsha Endlich, who added that she and her husband hadn't paid much attention to the concept of newborn screening before Joshua's birth. "We were scared to death."

They educated themselves and switched to safe foods immediately. Today, Joshua is healthy.

Another problem parents face is that some disorders take more than a few days to become obvious. They behave like time bombs, suddenly destroying lives.

That was the case for 6-year-old Michael Metil.

Michael was delivered three months prematurely at Hershey Medical Center and spent 95 more days there. The mandatory screening tests were performed, but not ones that would have picked up Michael's problem. His mother, Cay Welch of Latrobe, thought she was taking home a healthy child.

He did well until he developed a flu-like illness and dehydration when he was 11 months old. His parents woke him from a nap and found a child who was in grave danger.

Within a few weeks, doctors diagnosed Michael with glutaric acidemia I, a disorder caused by an enzyme deficiency that leads to increased acid levels in the blood. The brain damage was permanent.

"He stopped walking, he stopped talking," Welch said. "He could no longer sit up; he could no longer hold his head."

It was only after the damage had been done that Michael's parents discovered that leading experts in glutaric acidemia were an hour away in Lancaster. The experts were there because Amish children have a high risk for getting this genetic disease, which can be treated by switching children to a low-protein diet.

Welch has a picture of 4-year-old Michael with two Amish sisters of similar age who were diagnosed with the disorder when they were screened as babies. The sisters seem normal. He is the one in the wheelchair who can't communicate and is fed through a tube in his belly.

A legislator acts

In an effort to make screening practices uniform among hospitals and prevent tragedies, O'Brien, the Philadelphia representative, last summer drafted House Bill 1421, which had one hearing before the Committee on Health and Human Services that he chairs. It would expand the newborn screening panel to include 24 conditions, including galactosemia, glutaric acidemia and cystic fibrosis.

O'Brien, along with parents including the Humeses and Welches, met with Gary Gurian, Health Department deputy secretary for public health programs, Jan. 19 in Harrisburg to discuss the issues raised by the bill.

"[The health officials] are more than willing to work with everybody on this," Jeff Humes said afterward. But he added, "It's of a more complex nature than I originally anticipated."

He and his wife had thought expanding the screening would be easy because, for an additional $19.75 beyond the current $9 cost, the same few drops of blood taken from the infant's heel could be checked by Neo Gen for 30 disorders instead of four.

Since one out of every 1,500 babies has a disease from that screening list, according to Neo Gen President Edwin Naylor, that would mean that about 100 babies a year in Pennsylvania who are born with the disorders could be identified.

But it turns out that there are some public health issues that make expanding the screening less than automatic.

Public health experts say that to justify the cost of a mass screening program, there must be some proven effective treatment for the conditions it detects, and not all of the 30 disorders in the Neo Gen testing panel can be treated.

"It doesn't do us any good to test if we can't benefit the child," said Ivonne Bucher, director of the Bureau of Family Health.

Health officials also need to know that the tests are highly accurate, although the Neo Gen panel seems to satisfy the 80 percent of Pennsylvania hospitals that already offer additional testing through the company, whose lab is based in Scott.

Using equipment that is too expensive for many hospitals to buy themselves, Neo Gen employs a technique called tandem mass spectrometry, in which two machines that can weigh molecules are linked together. The molecular components of the blood sample are shaken up in the device's collision chamber to break them into predictable fragments. A computer then measures the quantity of particular pieces of protein.

Naylor said a baby with a certain condition might have too much or too little of certain chemical fragments. It takes about 60 seconds to complete analysis for the conditions. It takes a few more days to get the results printed and mailed out.

Hospitals that do offer the full Neo Gen screening usually absorb the cost or seek grants to fund it.

The state Health Department spends $3 million per year for the current mandatory screening program, using funds from the Maternal and Child Health Services block grant. It is not yet clear how the costs of additional testing would be covered.

Despite the many details that need to be ironed out, O'Brien described himself as "cautiously optimistic" about the future of expanded newborn screening. He said there were indications that the Health Department would add several of the disorders listed in the bill.

Even if she had been screened early for galactosemia, it's unlikely that Kaitlin Humes could have avoided all the complications of the disorder. Her ovaries might have failed anyway, even if she had been on a dairy-free diet, but it also might not have occurred so early in her life.

The Humeses are confident that galactosemia will be added to the newborn screening panel in the near future, but they don't intend to drop efforts to further expand testing.

"We've dedicated ourselves to the newborn screen," Beth Humes said. "We're here for the long haul."

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