St. Louis hospital to study birth defect

Date: 3/31/2009

BETSY TAYLOR
Associated Press Writer

ST. LOUIS (AP) — A top children's hospital wants to improve the survival rate of infants born with a birth defect that many families have never heard of until their child is diagnosed.

Dr. Brad Warner, surgeon-in-chief of St. Louis Children's Hospital, said Tuesday that he and others plan research to better understand the condition, known as CDH, or Congenital Diaphragmatic Hernia. One in 2,000 babies is diagnosed with the disease, doctors say. Half of those don't live to their first birthday.

The condition occurs when the diaphragm, which separates the chest cavity from the abdomen, does not completely form in the womb. The contents of the belly migrate to the chest, which keeps the lungs from developing properly.

Eight babies at the St. Louis hospital died last year from the condition.

Doctors at St. Louis Children's Hospital say they're part of a national database registry to collect and track information on children with the condition. They plan to recruit faculty candidates that are able to explore fetal surgery intervention and are working to collect DNA for analysis.

Treatment for the birth defect varies.

Many are stillborn. Babies who die from the birth defect usually have insufficient lung tissue to survive, or develop hypertension in the blood vessels of the lungs. Medications to lower blood pressure in the lungs lower the baby's overall blood pressure, which can be problematic.

Of those who live, some are in distress from the moment the umbilical cord is clamped; others are OK for their initial hours of life, then get worse. A third group, which is the most uncommon, initially looks good, but later exhibits signs, such as bowel sounds in the chest, that reveal the condition.

In some cases, doctors have performed surgery on pregnant women and their fetuses to try to address problems before a baby is born, but those procedures have risks. Children with CDH can grow up to be healthy adults.

Doctors say they hope to better understand predictors of good and bad outcomes for babies with the condition, as well as how to address the many complications that can arise.

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On the Net:

Breath of Hope: http://www.breathofhopeinc.com/

Copyright 2009 The Associated Press.

Rerouting urinary nerves to help spina bifida

Date: 11/10/2008

By LAURAN NEERGAARD
AP Medical Writer

WASHINGTON (AP) _ It's a delicate and daring experiment: Could doctors switch a leg nerve to make it operate the bladder instead?

Families of a few U.S. children whose spina bifida robs them of the bladder control that most people take for granted dared to try the procedure — and early results suggest the surgery indeed may help, in at least some patients.

With the technique, pioneered in China, the kids are supposed to scratch or pinch their thigh to signal the bladder to empty every few hours. But surprisingly, some youngsters instead are starting to feel those need-to-go sensations that their birth defect had always prevented.

"It feels like this little chill kind of thing in me," marvels 9-year-old Billy Kraser of Scranton, Pa.

"When he goes in there and he's dry and he's clean, it's such a triumph," adds his mother, Janice Kraser. "I'll hear him going, 'Yesss!'"

The U.S. pilot study consists of just nine spina bifida patients and still is tracking how they fare — no one is finished healing yet. But already desperate families are lining up for a chance at this nerve rerouting, even as William Beaumont Hospital in Royal Oak, Mich., is trying to raise money to expand the study and provide better evidence.

"If it works, it'll be a huge improvement in the management of patients with spina bifida," says Dr. Kenneth Peters, Beaumont's urology chairman, who has a waiting list of nearly 100 would-be patients.

But, "it's imperative that we prove whether this works or not" before accepting all-comers, he stresses. "I have many patients who would pay cash and have it done. I refuse to do that."

Spina bifida occurs when the spinal column fails to close properly. It's a birth defect that affects about 1,300 babies a year, with varying degrees of leg paralysis and other problems.

Because bladder and bowel function depend on nerve messages zipping to and from the brain via the spinal cord, most spina bifida patients have trouble. Some are totally incontinent, some partially. Others have the opposite problem and must empty the bladder with catheters every few hours, leaving them vulnerable to urinary tract infections and life-threatening kidney damage. There are few good treatments.

Enter Dr. Chuan-Gao Xiao of China's Hauzhong University of Science and Technology. The U.S.-trained surgeon developed a way to bypass the brain: Cut open a spot on the lower spine and sew two normally unrelated nerves together — a lumbar nerve that acts in the thigh to a sacral nerve that would normally squeeze the bladder.

If they fuse well, then scratching the thigh can send a signal directly to the bladder side of the new nerve bridge, Xiao's early research found. More than 1,000 patients in China are thought to have undergone the procedure; Xiao has reported results on only a fraction in respected urology journals.

Beaumont's Peters traveled to China to learn Xiao's technique and began the pilot study thanks to a private donor who financed the $40,000-a-patient surgery.

His nine spina bifida patients — plus an additional three adults with spinal cord injuries — emerged from surgery to anxiety: It can take months for the nerves to heal, even longer in the adults who are still waiting.

But a year later, seven spina bifida patients had their bladders contract as they scratched a leg. All those who'd needed medication for overactive bladders have quit the drugs. Some who had always needed catheters, like Billy Kraser, are starting to urinate on their own. Fecal continence is improving, too.

One patient so far is what Peters calls a home run, a 14-year-old girl who no longer suffers embarrassing leaks or needs catheters.

The main side effect: Some leg weakness after surgery, enough to put Billy in a wheelchair for a month until he could navigate his usual lower-leg braces again. Another patient developed what appears to be a permanent dragging foot.

A standing-room-only crowd packed a recent meeting of the American Urological Association to hear Beaumont's early results.

"The promise is great," says Dr. Kenneth Glassberg, a pediatric urologist at New York's Columbia University Medical Center who has long known Xiao and operated with him in China.

Glassberg, too, is getting surgery requests from U.S. families but stresses that it's not yet clear how many patients would even be candidates, depending at the very least on where the spinal column is damaged.

The Spina Bifida Association is bringing Xiao to Florida in March to address an international meeting of about 500 doctors involved in spina bifida care — but also cautions families to await the research, particularly on the procedure's safety.

Back in Pennsylvania, Janice Kraser laments the lack of research funding, saying finding a good treatment would more than pay for itself if patients avoid expensive kidney damage. She's a nurse who home-schools Billy — he can't be catheterized at schools his siblings attend — while working nights and weekends in part to raise the thousands of dollars the family has spent traveling to Beaumont for follow-up testing.

Billy can't yet completely empty his bladder, but has far fewer urinary tract infections and enough control that his mother anticipates him trying underwear soon.

"It's very cool," Billy says of the study. "I did good and was a trouper."

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EDITOR's NOTE — Lauran Neergaard covers health and medical issues for The Associated Press in Washington.

Copyright 2008 The Associated Press.

Huntsville girl conquers spina bifida

Date: 11/3/2008 4:00 AM

By YVONNE BETOWT
The Huntsville Times


HUNTSVILLE, Ala. (AP) — On a recent Brownie outing to earn a disability awareness badge, Trish Switzer let her troop choose from blindfolds, ear plugs, leg weights, wheelchairs and walkers so they could be "disabled" during a scavenger hunt.

"After all the girls made their choices, (her daughter) Sarah said: 'I want a disability,'" said Switzer with a laugh.

Sarah, 9, was born with spina bifida and walks with the help of braces on the lower parts of her legs. But she doesn't accept the fact she is disabled.

Spina bifida is an opening in the spinal cord that causes full or partial paralysis, nervous system complications, bladder and bowel control problems, learning disabilities, depression and other issues.

The condition affects 70,000 Americans and was once considered a death sentence. But many, like Sarah, are leading near-normal lives.

Today, a pink Barbie wheelchair helps Sarah go long distances. She also is constantly accompanied by her Canine Companion dog, Bakari.

The Heritage Elementary School third-grader also enjoys water skiing, bowling and horseback riding.

After learning about Sarah's birth defect, the Switzers had little time to mourn. That day they were told about an experimental fetal surgery in which doctors take the baby from the womb, perform the operation to close the opening in the spine, and return the baby to the womb so it can continue developing.

The surgeries took place on July 1, 1999, at Vanderbilt in Nashville. Sarah was born again on Aug. 22.

Trish and Sarah were featured in Life magazine because of the risky pioneering procedure.

Today, the surgery is still performed, both before and after birth, but the verdict is still out on which provides the best results. A study is under way by the National Institute of Child Heath and Human Development to determine the most beneficial surgery to prevent problems associated with spina bifida.

When the Switzers first learned Sarah had spina bifida, their world was shattered, along with Bob and Judy Switzer, Sarah's paternal grandparents.

Several decades ago, Judy Switzer was a nurse at Johns Hopkins Hospital in Baltimore where she saw many babies with spina bifida.

"No one knew much about it 50 years ago," she said. "Many babies with it went home and became infected and died."

Her husband, Bob Switzer, said the news was "devastating" at first.

But now he and Judy, who moved to Madison to be near their only grandchild, are enjoying watching Sarah grow and take part in a variety of activities.

"She recently water skied for 16 miles without stopping," said the proud grandfather. "Sarah knows what she can and can't do."

Trish Switzer had never heard of spina bifida until she became pregnant with Sarah.

"I was as healthy as you could be," said Switzer, who was 35 when Sarah was born. "I did everything I was supposed to do (to have a healthy child). I took folic acid, ate healthy and exercised."

Folic acid, a vitamin B supplement doctors recommend to reduce the risk of brain-related problems such as spina bifida/hydrocephalus (fluid on the brain), didn't work in Switzer's case.

But as president of the Spina Bifida Association of Alabama, Switzer is still a big advocate of folic acid which is used to make the extra blood needed during pregnancy and creates healthy cells.

"Folic acid is not a 100 percent guarantee to prevent birth defects," said Switzer, who is trying to educate the public about the debilitating condition during October, Spina Bifida Awareness Month. "But we believe it reduces some of the problems that can occur during a pregnancy."

Dr. Debra Williams with the Madison County Health Department agrees.

"Every woman of pregnancy age should be taking folic acid each day," said Williams. "It can prevent neural tube defects such as spina bifida or any disease that is brain related."

According to the Spina Bifida Association of America, the exact cause of spina bifida is not known, but genetics and environmental factors do play a part in causing the condition that affects one of every 1,000 newborns in the U.S.

While it was almost a certain death sentence 30 years ago, today 80 to 90 percent of infants born with spina bifida survive and live a normal life expectancy.

After moving from England where her husband, Michael, was stationed with the U.S. Army, to Madison in 2005, Switzer attempted to find support for the family as it maneuvered the difficult maze of disability.

One of the first people Switzer met was Bill Whatley of Huntsville, believed to be the oldest active person with spina bifida in the United States at age 78. Now retired, Whatley was head of Huntsville Aviation for three decades. He continues to be a local, state and national advocate for the condition which nearly claimed his life as a child.

The Switzers and Whatley have become close friends since meeting three years ago.

Whatley calls Sarah a "miracle child."

He should know. He's living proof miracles happen.

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Information from: The Huntsville Times, http://www.al.com/hsvtimes/hsv.html

Copyright 2008 The Associated Press.

Turkey investigates hospital deaths of 27 babies

Date: 8/4/2008 1:09 PM

By SUZAN FRASER
Associated Press Writer

ANKARA, Turkey (AP) _ Turkey's Health Ministry launched an investigation Monday into the deaths of more than two dozen newborn babies at a hospital in Ankara.

The Zekai Tahir Burak hospital has acknowledged that 27 babies died there in the past two weeks, but said most had died from complications related to premature delivery.

Most of the 26,000 babies born each year or admitted to Zekai Tahir Burak are premature, as the hospital handles high-risk births. The hospital could not immediately say how many babies were delivered in the two week period involving the 27 deaths.

Turkey's infant mortality rate in 2005 was 23.6 in 1,000, relatively high compared with neighboring Greece, where 3.8 in 1,000 newborns died the same year, according to the Organization for Economic Co-operation and Development.

But a health workers union said 27 recent deaths in two weeks at the state-run hospital in Ankara was too high, and blamed poor sanitary conditions and negligence.

Health Minister Recep Akdag ordered an inquiry into the deaths, and the ministry set up a team of investigators to look into practices at the hospital, which has one of the busiest maternity wards in the capital. The hospital says it has capacity for 122 newborns at a time, but often has up to 180.

The ministry said the results of the investigation would be made public.

"The necessary measures will be taken if anyone is found to be at fault," it said in a statement.

Over the weekend, Dr. Ugur Dilmen, who heads the hospital's newborn unit, said the babies' deaths were the result of birth defects, heart failure, hernia, hypertension and stillbirth.

The hospital said tests had ruled out infection as a possible cause.

"None of the deaths were caused by a hospital infection," chief physician Leyla Mollamahmutoglu said.

The Health and Social Services Workers union, however, questioned the hospital's sanitary conditions. Union chief Kemal Yilmaz said Monday that visitors entered the newborn unit with plastic booties over shoes, but no masks.

Yilmaz also suggested the hospital was understaffed and overcrowded, with up to three newborns placed in one incubator.

He demanded the hospital answer questions about how many babies each nurse is responsible for, and whether any of the babies who died had been given antibiotics, among other queries.

Copyright 2008 The Associated Press.

Pre-pregnancy diabetes tied to more birth defects

Date: 7/30/2008 12:01 AM

BC-MED--

By MIKE STOBBE
AP Medical Writer

ATLANTA (AP) _ Diabetic women who get pregnant are three to four times more likely to have a child with birth defects than other women, according to new government research.

The study is the largest of its kind, and provides the most detailed information to date on types of birth defects that befall the infants of diabetic mothers, including heart defects, missing kidneys and spine deformities.

The study lists nearly 40 types of birth defects found to be significantly more common in the infants of diabetic mothers than in those who weren't diabetic or who were diagnosed with diabetes after they became pregnant.

The study's list of diabetes-associated birth defects is surprising — it's much longer than was previously understood, said Janis Biermann, senior vice president for education and health promotion at the March of Dimes.

"It adds more information about the specific types of birth defects associated with pregestational diabetes and gestational diabetes," said Biermann, who was not involved in the research.

Researchers from the Centers for Disease Control and Prevention led the study, which is being published in the American Journal of Obstetrics and Gynecology. CDC officials released the study Wednesday.

Birth defects affect one in 33 babies born in the United States, and cause about one in five infant deaths. The cause of most birth defects isn't known but some risk factors include obesity, alcohol, smoking and infections.

Doctors have known for decades about the threat diabetes poses to pregnancies. Past research has focused on dangers to the infant by the extra amounts of glucose — sugar — circulating in the womb of a diabetic mother. Studies with rats and mice clearly show excess sugar harms fetal tissue development, said Dr. E. Albert Reece, a study co-author, who directs birth defects research at the University of Maryland School of Medicine.

The new study draws from the birth records between 1997 and 2003 at hospitals in 10 states — Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas and Utah.

The study focused on the 13,000 births involving a major birth defect, and compared them to nearly 5,000 randomly selected healthy births from the same locations.

Mothers were asked if they had been diagnosed with diabetes before or during their pregnancy. The researchers said those who were diagnosed while pregnant either had a temporary, pregnancy-induced condition called gestational diabetes or had diabetes that had gone undiagnosed until they were pregnant.

The study found that there was no diabetes involved in 93 percent of the birth defects.

About 2 percent of the children with single birth defects were born to mothers who had diabetes before they became pregnant. About 5 percent of the infants with multiple defects were born to mothers with that condition. In healthy births, the percentage of mothers who were diabetic before pregnancy was much lower.

The study also showed a wide range of birth defects that included malformation of the heart, spine, limbs and gastrointestinal tract.

"Diabetes is not discriminating" in which birth defects it's linked to, said Dr. Adolfo Correa, a CDC epidemiologist who was the study's lead author.

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On the Net:

CDC: http://www.cdc.gov/ncbddd/bd/facts.htm

Copyright 2008 The Associated Press.