The Great Debate

THE GREAT DEBATE
THAT COULD COST YOUR BABY ITS LIFE

Tyler Mize of Douglasville, GA wasn't screened at birth, even for the state-mandated disorders. On Mother's Day 1998, at nine days old, he died from undiagnosed galactosemia. Children with galactosemia usually maintain satisfactory health by simply switching their milk-based formula to soy-based formula.

Tandem Mass Spectrometry (MS/MS) is an accurate technique for comprehensive newborn screening (CNBS) that can detect over 30 treatable disorders. Yet there are many issues of debate among lawmakers and state health departments surrounding the use of MS/MS.

Alexander Nawn of Malvern, PA was comprehensively screened at birth. Along with the state-mandated newborn screening, he was tested using MS/MS. He was found to have Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) and treated promptly. Today Alexander is a powerhouse, curtain-climbing toddler.

Justice Quent of Port Angeles, WA had the state-mandated screening, but wasn't screened by MS/MS at birth. By two-weeks-old he was in crisis. Justice teetered on the edge of a coma, suffering from an acute attack of Isovaleric Acidemia (IVA), which potentially could have been avoided if he had been comprehensively screened at birth. Though exposed to elevated risk for retardation and sudden death, today Justice is developing on schedule and is an "all boy" dynamo. Additional info on IVA can be found on the SBTS site.

Cody Kreider-Waldron of Port Angeles, WA had the same routine screening as Justice. But Cody's disorder, Phenylketonuria (PKU), was caught because PKU has been part of the mandatory-screening panel since the mid-60s. Early detection and intervention played a key roll in Cody's outcome; today he's a bright, lovable teenager.

The difference between these cases could be referred to as geographic discrimination, or being born on the wrong side of the tracks. The screening techniques currently in use can detect up to 10 disorders, yet the number of disorders screened for varies from state to state. The hospital in Pennsylvania supplements screening using MS/MS, yet the hospitals in Washington and Georgia don't.

Then there's what some call genetic discrimination. While all states screen for PKU, which strikes 1 in 13,000, there are two states (Washington and Louisiana) that don't screen for galactosemia, which strikes 1 in 7500. Only three states routinely screen for MCAD (1 in 10,000), and IVA (1 in 50,000).

IVA isn't as common as many of the other disorders, yet like most of them, has a similar treatment (dietary changes and supplements). The irreversible effects of IVA when left undetected are also similar to PKU. IVA has taken the lives of about half its victims and left many of its survivors permanently impaired. Yet IVA isn't screened for because of its rarity. House fires are rare, too, but no experts suggest we should just throw away those pesky smoke detectors.

Many argue that because the disorders are rare "individually," it's a waste to screen for them. Try telling that to the Mize family, and others like them, when they're visiting their babies in the cemetery. Try telling yourself that when you learn Neo Gen Screening found that 1 in 1500 babies test positive for one of these disorders. Many believe these numbers will climb when every state expands its newborn screening.

Other arguments are MS/MS shouldn't be used because there's no cure for these disorders, which raises ethical issues about screening for things that aren't curable. Yet these disorders are "treatable". So this issue can be solved by not screening for untreatable disorders. If we don't screen for treatable disorders, then the child who has a treatable disorder is being penalized. Penalized because another child "may have" an untreatable disorder. Retardation and death are stiff penalties.

So, if we lend credence to the rationale of "not screening for incurable disorders" and PKU isn't curable but is treatable, does that mean we should stop screening for PKU?

Cost plays a large roll, too. Insurance companies see the $20-$25 test costs adding up fast. Then there's the Tandem Mass Spectrometer's $300,000 price tag. Yet Gary Hoffman, manager of the Wisconsin Newborn Screening Laboratory, did the math. In an Associated Press article, published April 9, 2000, in Pioneer Planet, Hoffman stated that he felt the medical community, insurance providers and the government would save $500,000 annually with early treatment.

In addition to the hefty price tag, there's also a lack of professionals trained to read the MS/MS test results. Yet labs like Pediatrix Screening already have trained staffs, and screening can be contracted out to them while maintaining cost efficiency. Pediatrix tests for over 50 metabolic disorders detectable by MS/MS for about $25 per baby. In many cases this price is cheaper than the state's current screening expense for only a few disorders. Note that Pediatrix also screens for the 10 disorders detectable by traditional means.

Most medical professionals have rarely, if ever, been exposed to genetic disorders, but that doesn't stop them from existing. So doctors must be trained to provide the necessary care, not only to the child, but to the family as well. Families need counseling and instructions on caring for their baby. Until the medical community is brought up to speed on these disorders, should we avoid screening for them?

Raising awareness of CNBS and squashing the myth that these disorders are rare would make the medical community see the need to re-educate itself and start offering CNBS to expectant parents. In the mean time, there are some great awareness, service and support groups like Save Babies Through Screening, Mercy Medical Airlift (dba Angel Flight) and others. These groups work around the clock to improve the odds of our nation's babies, who are playing Russian Roulette with undiagnosed genetic disorders.

Even when CNBS is done, there are "quality" issues like delays. Samples are often 'batched' to save shipping expenses. They are then sent to the lab by regular post, alongside junk mail, causing further delays which can damage samples by exposing them to heat and humidity. These delays decrease baby's odds of survival, especially when dealing with disorders that can kill within 2-3 days of life. Add holidays and weekends to the mix and it can cost a baby his life, a story the Mize family is well aware of. Tyler was born just 15 minutes away from the lab, but it took ten days for his test results to come back, arriving five days after his death.

But the problems with delays and exposure can be avoided if samples are sent by overnight courier like those ever-important mortgage documents. After all, why bother testing for anything if the results won't be back in time to save the child's life?

Out of diapers, out of danger? The Fatty-Acid Oxidation Disorders (FODs) such as MCAD are dubbed the silent killers, as they present no clinical symptoms prior to attack. Seemingly healthy older children and adults have died suddenly from undiagnosed MCADD. These deaths could have also been avoided with CNBS. ~ Read about Michelle Murray, who was lost at age 21 to undetected MCADD

Further adding to the problems is human error: Missing the date of collection, early hospital release and healthcare providers erroneously referring to newborn screening as the "PKU" test.

An early hospital release played a key roll in Tyler's case. His parents were told the "PKU" test was a useless prick in the foot, because it was inaccurate before the baby was 48 hours old. While this is true for the PKU portion of the tests, newborn screening looks for more than just PKU. Galactosemia was part of the screening panel when Tyler was born and is detectable immediately at birth, before any ingestion of galactose. Yet "Tyler was screened at five days old, not at discharge, because of the nurse's recommendation," says Tera Mize.

Washington doesn't bother screening for galactosemia, because all galactosemia patients have the same outcome whether screened at birth or later diagnosed. Visiting the grave of Tyler Mize quickly disproves this theory. Comparing the IQs of clinically diagnosed galactosemia patients with those screened at birth further disproves the theory. This information was on Washington's own Department of Health web page, in two different reports.
Note that Washington's newborn screening program is currently being re-evaluated. The WA NBSAC has recommended that Galactosemia be added to the screening panel. Click here for more information about those recommendations.

According to the article "Parents Sue Doylestown Hospital" in the Philadelphia Inquirer, March 25, 2000, it's considered criminal negligence to not provide the "standard of healthcare". Since 48 of 50 states routinely screen for galactosemia, wouldn't screening for galactosemia be considered the 'national standard of healthcare'?

So while lawmakers and state health departments "consider their roll in expanding newborn screening" and "consider costs", they're not considering how it affects the children and their families. These effects are devastating and permanent. While they "consider", our children die, become retarded, lose motor skills and lose quality of life. And the families of these children suffer a lifetime of unnecessary high medical costs or the heartbreak of losing a child.

Tyler led a tragically brief life. But by lobbying for CNBS in every state, no other parents will suffer the heartbreak of celebrating their baby's first birthday in the cemetary.