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Anomalic Baby Metabolic Diseases Treatment
Anomalic Baby Metabolic Diseases Treatment
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| Anomalic Baby Metabolic Diseases Treatment |
Who's at risk
Every infant born in the U.S. receives newborn screening within the first 24 to 48 hours of life. "A lot of people don't know about newborn screening, but it's done on 100% of babies, whether born in the hospital or at home," says Wasserstein.
"Just a few drops of blood allow us to screen for more than 40 very rare but potentially life-threatening diseases, which are all treatable if caught in the first days of life," she says.
Last year New York City screened more than 115,000 infants, detecting 316 confirmed cases of sickle cell anemia, cystic fibrosis, HIV and other less common disorders.
Newborn screening is done by a heel-stick test within two days of birth. "A nurse pricks the baby's heel, collects just a few drops of blood on a filter paper and sends it to a lab," says Wasserstein.
"What's important about screening is that the babies with some of these potentially deadly diseases could look normal in the first days of life," she says. Screening allows doctors to diagnose and start treatment before babies begin showing symptoms.
Most parents have never heard of inherited metabolic diseases. The most common one, phenylketonuria (or PKU), affects about 1 in 10,000 babies.
"These are genetic diseases that are recessive, which means that a person has to have two abnormal copies of a gene to have the disease," says Wasserstein.
"Usually, parents have no idea that they carry an abnormal copy of the gene, because they also have a normal copy which keeps them healthy. Children with PKU inherit the abnormal PKU gene from both parents, which makes them have the disease," she says.
"People with PKU can't break down phenylalanine (PHE), which is found in all foods that have protein. If left untreated, they become severely mentally retarded."
Diagnosis through newborn screening allows doctors to put these infants on low-PHE diets and prevent the mental retardation.
Signs and symptoms
The point of newborn screening is to diagnose rare disorders as early as possible. "If the lab results are very high, the screening center calls a specialty treatment center like Mount Sinai, and we call the parents," says Wasserstein. "It's a scary call for parents, but it's a life-saving call."
If the infant's test results are slightly abnormal, the screening center calls the pediatrician and asks them to redo the test.
Even infants who have such rare diseases usually look and behave normally for the first two days of life.
"That's why screening is so important, because no one would expect that they have this very serious disease," says Wasserstein. "If the baby were to go untreated, the symptoms can be things like mental retardation, liver disease or death — we want to prevent these symptoms altogether."
Traditional treatment
Most of the diseases tested for by newborn screening are treatable if caught early, and the treatment depends on the disease.
"With PKU, the mainstay of treatment is giving the baby a diet of foods that do not contain PHE," says Wasserstein, "Because PHE is found in all protein, including breast milk, we give them special medical foods, which are normally formulas that are amino-acid based." These foods give babies the protein they require to grow, but are safe for them to eat.
Children and adults with PKU can eat foods that don't have protein, like fruits and vegetables.
"It's almost like a vegan diet, with no soy, no meats, no eggs, no dairy," says Wasserstein. "There are also some brand-new approaches to treating PKU, including a pill that allows some patients to handle PHE."
While parents can expect a lot of trips to the doctor's office during the first year of their child's life, doctors work with parents to do some of the testing at home and find a sustainable pace.
"The treatment is life-long, but these kids grow up to be normal, going to soccer practice and school," says Wasserstein. "And the babies diagnosed 40 years ago and treated have grown up to become doctors, lawyers and teachers."
Research breakthroughs
Newborn screening has improved dramatically since it started 50 years ago, when it involved testing only for PKU.
"The number of disorders we can screen for exploded in the past decade," says Wasserstein. "Thanks to tandem mass spectrometry, we can screen for more than 40 diseases on the same card. That number's just going up, so we'll be able to help even more babies than we could help in the past."
Questions for your doctor
A good place to start is, "When can we find out the results of the newborn screening?" Your pediatrician can get a copy of the results from the state newborn screening lab and put it in your baby's medical chart.
The vast majority of parents will not get a phone call about the screening, because calls aren't made unless the results are abnormal.
If your baby has a positive screening, the key question is, "Where will my baby be treated?" New York has an efficient system that immediately connects the baby to a good hospital and a specialist.
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