Need a great gift idea for a baby shower? Consider gift certificates for services that can help ensure the child's good health. You can cover costs involved in getting the newborn screened for rare diseases . You can even help pay for storage of the baby's cord blood, which can be used in treating certain diseases.
One mother's story shows just how important this can be.
When Joshua Hammer was born prematurely four years ago, everything about him seemed fine. Then one week later, his parents realized things weren't right. "He was lethargic, not responding -- we took him to the hospital that same day," says Sandi, his mother. Less than 24 hours later, Joshua was in a coma.
Another four days passed before doctors knew the diagnosis -- maple syrup urine disease (MSUD), a rare but often fatal disorder. The infant must receive treatment within 12 to 14 days after birth. The disease is characterized by increased amino acids in the blood; consequences can include low blood sugar, convulsions, vomiting and poor appetite, and mental and motor developmental delays.
For Sandi and Seth Hammer, it was a scary introduction to the world of newborn screening. At that time, New Jersey required that infants be tested for just four metabolic disorders -- phenylketonuria, hypothyroidism, galactosemia, and sickle cell anemia.
Joshua lived. "But he had a very, very difficult start," his mother tells WebMD. Her second son, Matthew, got early treatment for MSUD -- and now there's a world of difference between the two brothers. "Joshua has neurological problems. He's hospitalized more. He doesn't bounce back easily. We can see the effects of delayed diagnosis."
Actually, newborns are vulnerable to nearly 50 serious disorders, says Edwin Naylor, PhD, president of Neo Gen Screening, Inc., a private company that specializes in extensive testing of newborns.
Some of these disorders are inherited, but most aren't , he says.
All states routinely perform newborn screening for a few common metabolic disorders. But parents are becoming increasingly concerned about less-common yet deadly disorders, including cystic fibrosis, Naylor tells WebMD. Cystic fibrosis is a genetic disorder and can be diagnosed by detecting increased amounts of salt in the sweat. It can cause abnormalities in the lungs and sinuses, in the gastrointestinal tract, and in fertility in males.
A handful of similar newborn screening services have sprouted across the country including Baylor University Medical Center in Dallas, Mayo Clinic in Rochester, Minn., and Children's Hospital of Colorado in Denver.
When screening is done in the first days of an infant's life, it allows early treatment that either prevents death or at least improves the baby's outcome, Naylor tells WebMD. If there is no treatment for the disorder, the families can get genetic counseling to help them make plans.
The screening service is economical -- about $50 for each baby. Some hospitals have contractual arrangements with these screening services, and provide it at a discounted rate.
Instead of discarding the umbilical cord, many parents are opting to have blood taken from the cord and stored. Only a handful of private companies provide this service of preserving umbilical cord blood.
Cord blood is a very rich source of stem cells, says Michael Lill, MD, medical director of Cedar-Sinai Medical Center's bone and marrow transplant program. He is also medical director of the Cord Blood Bank at California Cryobank, Inc., a company that specializes in storing cord blood and sperm.
Cryogenics Laboratories, Inc., is another California-based company that provides this service.
It's a sort of biological insurance policy, as Lill explains it. Stem cells are immature cells that have the potential to develop into other types of cells. They can be used instead of bone marrow for transplants and have many more possible treatment applications, he tells WebMD.
The vast potential of stem cells is driving the enthusiasm for storing cord blood, says Lill. "The early data [are] very promising. There's a belief that stem cells in umbilical cord blood would be used to treat heart disease, liver failure, even turn stem cells into neurons to treat Parkinson's disease," he tells WebMD. Depending on the match, another family member could possibly use the baby's cord blood, too.
After the blood is received at the cryobank, it is frozen in liquid nitrogen, just like sperm is frozen. "There's no reason why these cells shouldn't be viable for decades," Lill adds.
There is an initial setup fee (nearly $800 at Cryobank), then a yearly maintenance fee (Cryobank charges $85).
"We ask the mom to enroll with us first -- like with any gift registry -- then friends call in and have gift certificates sent to her or to them," says Julie Levis, a Cryobank spokeswoman. "It can be a surprise for the mother, maybe a gift from a grandparent who pays for everything. We can do the paperwork later."
