Newborn Screening Tests16 Giugno 2005
Gaucher disease18 Giugno 2005
“ST. LOUIS (AP) — Linda Kocher didn’t know her daughter had a rare disorder until the child came down with the flu when she was 4 years old.
When Audrey wasn’t eating, her mother figured that was normal for a sick child. But she then found Audrey “basically comatose and having seizures.”
Though the child could have died, an emergency room doctor realized Audrey’s glucose levels were low. With treatment, Audrey recovered. It turned out that Audrey, now 8, lacks an enzyme and needs to eat regularly for her health.
That’s why the Kochers were on hand on Thursday to hear Gov. Matt Blunt explain that Missouri will begin screening its newborns for about 20 additional metabolic and genetic disorders on July 1.
“I am so happy,” said Linda Kocher, 43, of Olivette. “It will save the heartache of what happened to us.”
Currently in Missouri, a few drops of blood are taken from a prick to an infant’s heel a few days after the child is born. Newborns are tested for five disorders, including sickle cell anemia –a disease that can cause pain, organ damage and stroke– and congenital hypothyroidism, a thyroid hormone deficiency that can retard growth and brain development.
Beginning July 1, those same few drops of blood will be screened to be sure the baby doesn’t any of about 20 additional disorders, or to offer treatment options if the child does.
The names of several of the disorders, like Audrey’s medium-chain acyl-CoA dehydrogenase deficiency, aren’t easy to pronounce. But early treatment can make a significant difference to children who have many of the conditions.
Blunt said health insurance companies or Medicaid will pick up the costs of the screenings, which are $50 a child. The Republican governor said a $550,000 federal grant helped to fund costs related to the improved screenings.
While he said catching a disorder early saves money in the long run, more than economics had to be considered.
“I think this is important to do, in and of itself, if you separate it from any balance sheet,” Blunt said during a visit to the March of Dimes office in St. Louis County.
Dr. Kathy Grange is an associate professor of pediatrics with St. Louis Children’s Hospital.
She serves on a committee with the state’s genetics advisory group that advised the governor about newborn screenings.
She said the tests are done a few days after the child is born because many of the conditions are associated with feeding, or an infant’s inability to metabolize certain amino acids.
The improved screenings will be important to Missouri’s children, she said in a phone interview.
“If these conditions are detected early, it can in many cases prevent illness or even death by a relatively easy means of intervention,” she said.