Detecting Problems

By BRENT SNYDER,
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.

Texas requires five newborn screens - phenylketonuria (PKU), galactosemia, major anemias, congenital hypothyroidism and congenital adrenal hyperplasia (CAH).

A broader range of tests - called tandem mass spectrometry or expanded newborn screening - detects more than 30 different treatable genetic disorders, including ASA, with one blood sample. Only Massachusetts, Minnesota, North Carolina and Pennsylvania require the tests statewide, but it is available upon request by parents across the country.

For the expanded newborn screening, a blood sample is taken with a heel prick card, the sample is dried and then mailed to a lab. Tests are available on-line from CBR New Screen.

There are literally thousands of different medical tests that physicians can run on newborns, says Dr. Carl Hubbell of Beaumont Pediatric Center. But he says he normally does not do screenings other than those required by the state unless the parent's request them or the infant's symptoms or family history indicates the need for expanded testing.

"Newborn screening tests check for certain errors of metabolism, which are very important for evaluation because if you find them, you can treat them before they develop into complications and serious conditions," he says. Michelle Ping learned that her daughter, Katy, was born with the metabolic condition ASA.

Michelle Ping, 41, of Beaumont, says she wishes she had known about the expanded newborn screening on the day her daughter Katy was born. She knew something was wrong with Katy on the first day she came home from the hospital because she could never keep her bottle down.

At five and a half weeks, Katy went into a coma. "I thought she was dead when I saw her in the crib," Ping says. "We rushed off to the hospital, where they ran like 30 tests on her and did a spinal tap and they couldn't find what was wrong with her."

On the second or third day, Katy came out of the coma, but as soon as she ate a little cereal, she went into a second coma. They rushed in an ambulance to Texas Children's Hospital in Houston. There, a young intern from South American suggested an ammonia level test.

"I owe Katy's life to her," Ping says. "Within eight hours, she had been diagnosed with ASA."

Five years ago, Katy suffered liver damage and received an organ transplant. "She was the first transplant patient with ASA ever and she has been cured ever since," Ping says. Katy, now 10, has mild brain damage as a result of her condition and is in the third grade.

Ping says that she was furious that it took so long to find the cause of her daughter's illness. "With all the testing that was done, why wasn't there anyone who thought of running that test sooner?" she says. "It's like it was completely hit or miss."

The Oliphints and Pings are advocates for the expanded newborn screening including the ASA screen and say they would like to see all states require it. In addition to giving gift certificates for expanded screenings to pregnant friends, the Oliphints maintain a Web site, which has received more than 3,000 hits in the past 12 months.

The expanded newborn screening checks for rare disorders, that effect one in 25,000 to one in 200,000 newborns. But, the required Texas screens test for more common disorders affecting one in 10,000 to 15,000, Hubbell says.

"But when the rare disorders are present, they are devastating," he says. "If it's your child, it doesn't seem so rare at all. So if the family is concerned or if there is a family history of any of these disorders, having the expanded screen done is a good idea."

It's important to note that the expanded screens don't pick up every disorder out there, Hubbell says. "You have to be on the lookout at all times with young children and watch for symptoms as they grow," he says.

Hubbell recommends a complete blood count, a blood culture and an antibody screen for newborns if there is a concern about infection. Such concern arises with babies born to mothers who had a fever during birth, moms with a prolonged rupture of the membranes for 12 hours or longer, and moms with a history of group b strep colonization in the vagina and an infection in the birth canal, he says.

"In addition, we will do a urinalysis of the baby for infection. If they are running a fever, we will also do a spinal tap to check their spinal fluid for bacteria as well," he says.

Babies who are born with dysmorphic features characteristic of Down syndrome and other genetic abnormalities are normally screened with a chromosomal analysis.

Babies who are large for their age - or babies who are born to mothers with gestational diabetes - are screened for glucose to make sure that their sugar levels don't fall too low. Conversely, if babies aren't gaining weight on schedule, Hubbell checks for metabolic disorders of amino acids and organic acids.

"The bottom line is that it's very important to have a very good family history and get those pre-natal checkups so we can catch this stuff before it becomes a problem." he says.

Screenings on newborns

Newborns in Texas are screened for five disorders and diseases.

• Phenylketonuria (PKU) is caused by a missing enzyme needed to properly digest a food protein called phenylalanine. As the phenylalonine builds up in the body, deposits can cause brain damage. The condition is treated with a special baby's formula. PKU occurs in about one of every 17,000 babies.
• Galactosemia is caused by a missing enzyme needed to properly digest galactose, which is most commonly found in milk products. This condition blocks the breakdown of galacta polymers in sugars once they are stored in the body, resulting in deposits that can cause liver damage, cataracts, mental retardation and severe infections of the blood. It is treated with a special baby's formula. Galactosemia occurs in about 1 of every 7,500 babies.
• Major anemias are caused by abnormally shaped red blood cells. This test checks primarily for sickle cell anemia, thalassemia anemia and abnormalities of hemoglobin synthesis. If not treated, the diseases can cause several anemias and blood infections that can cause death within a few weeks from birth. It is treated with antibiotics and occurs in about 1 of every 1,300 babies. In babies of African-American descent, the rate of sickle cell anemia is about 1 of every 400 births.
• Congenital hyperthyroidism is caused by an inadequate production of growth hormones. If left untreated, congenital hypothyroidism can cause decreased growth, lethargy and mental retardation. The condition is treated with medication, and occurs in about 1 of every 4,500 babies.
• Congenital adrenal hyperplasia is caused by a missing enzyme needed to make energy for the body to function properly. Children suffering from this condition have trouble metabolizing some of the hormones in the adrenal glands, resulting in seizures, heart failure and death within a few days. The condition is treated with medication, and occurs in about 1 of every 21,500 babies.