In the Boston Globe Today!!!

[Guest guest]

Panel eyes making all states test newborns for 30 diseases

Wide disparity exists in nation

By n Neergaard, Associated Press | September 14, 2004

WASHINGTON -- Gracie Clay's mother says her child could still be

alive had she been born in, say, Mississippi instead of Georgia:

Which state you live in determines whether your newborn is tested for

several dozen rare but devastating inherited diseases.

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Many of these illnesses, like the one that killed 19-month-old Gracie

in February, can be treated easily if parents know in time. Testing

requires a single drop of blood. But many states mandate newborn

testing for only a fraction of the diseases.

Next week, a government advisory committee is expected to move to end

the geographic disparity, as it debates whether every state should

test every newborn for 30 genetic illnesses.

''We should not be having babies die because of not having a test

that's relatively simple, " says Dr. R. Rodney Howell, a University of

Miami pediatrician who chairs the panel that advises Health and Human

Services Secretary Tommy .

Since 1999, Massachusetts has offered screening of newborns for as

many as 30 genetic disorders, including the condition that killed

Gracie Clay. Every infant in the state is routinely tested for 10

conditions, and parents are given the option of having their baby

tested for 20 more inherited diseases. The vast majority of parents

opt for the full complement of tests, said Sally Fogerty, associate

commissioner in the state Department of Public Health.

''It gives them more knowledge about anything that may affect the

well-being of their child and allows that child to be linked into

services as early as possible, " she said. ''If they can be linked

into the services they need, we have a better chance of that child

reaching their optimal functional level. "

Parents in Massachusetts do not pay extra if they want their children

tested for all 30 conditions.

The March of Dimes, which has a seat on 's advisory panel,

decided last week to increase its own newborn testing recommendations

from nine diseases to 30, persuaded by a long-awaited study from

leading geneticists that forms the crux of next week's debate.

That study, soon to be published in a medical journal, ''will put a

lot of pressure on states, " predicted March of Dimes' medical

director, Dr. Green. ''Regardless of what the advisory

committee does, . . . this is going to irrevocably change newborn

screening in the US. "

Meanwhile, parents are advised to check what their state requires

now. If it is fewer than 30, ''we do have to suggest that the family

at least consider a private screening lab, " Green said. Extra testing

costs $25 to $100, depending on the lab.

''If I'd just known about newborn screening, " laments Molly Clay of

Atlanta. Although a public health worker, she did not learn until

Gracie died that Georgia tested for eight diseases, but not her

daughter's. The state is adding that one to its list. ''The state you

live in decides the fate of your child if you're not aware, " said

Clay, who encourages parents to seek that supplemental testing.

Today, every US baby is tested for two rare diseases that can cause

retardation if untreated: hypothyroidism and the metabolic disease

phenylketonuria, or PKU. Most also are tested for sickle cell anemia,

a blood disease.

But new technology called tandem mass spectrometry can analyze a

single drop of blood for more than 40 other serious, sometimes life-

threatening, genetic diseases.

Many are metabolic disorders with such tongue-twisting names that

they go by acronyms, like the MCAD that killed Gracie Clay. These

otherwise healthy babies lack enzymes that change stored fat into

energy, meaning going more than a few hours without food can be

fatal. Gracie, for example, had some middle-of-the-night vomiting

that seemed like a routine stomach bug, but she died hours later in

her sleep. Had anyone known she had MCAD, a quick glucose injection

almost certainly would have saved her, Clay said.

These are very rare diseases, thought together to strike about 4,000

babies a year. But a recent federal analysis suggests that more than

1,000 a year may go undiagnosed because of state testing variation.

Next week's meeting could increase that pressure if government

advisers urge setting the first national standard for which tests to

require -- and Health and Human Services ultimately follows the

advice. Hospitals that do not follow national health standards could

wind up in court.

Until the debate is settled, a national database -- http://genes-r-

us.uthscsa.edu -- lists what tests states now require. For

supplemental screening, that website also lists private labs.

of the Globe staff contributed to this report.

© Copyright 2004 Globe Newspaper Company.

[Guest guest]

thanks Gwen

there was a similar article in People magazine about a month or so ago. A Mississippi family lost thier child in a very similar way from MCAD ( I think in 2001) and she has fought to get it tested for in thier state and now is working nationwide.

Both were very good articles!

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.heartliftersgallery.com/ Crazy Lizzies!! PURSES!