When their baby was born with overwhelming special needs, these parents became experts in nemaline myopathy
Like many first-time parents, Doug and Tina Kurtz of Dayton, Ohio, immersed themselves in books on parenting in preparation for their new arrival. But when their son, Brent, was born with a rare muscle disorder, the Kurtzes found themselves abruptly plunged into a world where none of their parenting books could help.
During the long months of Brent's first year, the couple was forced to make their own way in the parenting process, gradually learning to bond with their child; managing ventilators, tracheostomies and feeding tubes at home; and becoming assertively involved in their son's medical care.
"We first had some idea there was a problem when Tina went in for an ultrasound," Doug says. "She was pretty large and they thought she might be carrying twins. The ultrasound showed only one baby, so they said she had polyhydramnios, excess amniotic fluid."
Doctors later expressed concern that the fetus might have an abnormal esophagus, Down's syndrome or no stomach. At their last ultrasound before the birth, the Kurtzes were told their baby looked fine and had no abnormalities.
Their relief was short-lived, however. When Brent was born one month early on Oct. 11, 1998, he had to be intubated immediately because he couldn't breathe on his own.
|Doug and Tina Kurtz have become experts in Brent.|
Brent spent the next three months in the hospital as test after test revealed new medical problems. He was taken off the ventilator for a short time and then put back on with a permanent tracheostomy to help his breathing.
A feeding tube was inserted into his stomach because he couldn't swallow properly, and an operation was performed to loop part of his stomach over his esophagus to prevent food reflux.
While other parents were holding their babies and exclaiming over tiny fingers and toes, the Kurtzes' new son lay unmoving in a room full of machinery and monitors. This made the bonding process especially daunting.
Doug reports that bonding with the baby was easier for him than for Tina. "While she was still recovering from the birth, I got to go up and see him. I got used to the equipment and was able to give him some stimulation. And when I said the dogs' names (which he'd heard while in the womb), he would sort of twitch. I knew that was my son in there."
The couple quickly got involved with all aspects of their son's daily care, including suctioning the tracheostomy tube and monitoring the equipment. "That's when you begin to accept what's happened," says Doug.
Despite Brent's difficult beginning, he slowly gained weight. For the first few months no one knew what was wrong with the Kurtz baby. A geneticist suspected a neurological problem, but the neurologist found no abnormalities in Brent's brain.
A muscle biopsy was performed in mid-November, but it wasn't until January that the Kurtzes finally got the news from the geneticist: Their son had a disorder called nemaline myopathy and might not live until his first birthday.
The parents met with a neurologist, who explained everything he knew about the disease. They learned that nemaline myopathy is a rare neuromuscular disorder that can cause profound muscle weakness in newborns.
In Brent's case, the muscle weakness affected his ability to breathe and swallow. He was also "floppy" when picked up because he lacked muscle tone, and, because his facial muscles were weak, Brent didn't have very exuberant facial expressions. The Kurtzes were reassured, however, that the disorder doesn't affect the brain.
After the initial shock of the diagnosis wore off, the Kurtzes wondered about Brent's prognosis: Was there really little hope he'd survive his first year?
They began researching the disease. The outlook was bleak but, through the Internet, they became aware of other families whose children seemed to be surviving.
The Kurtzes had discovered the right track. Although textbooks frequently report that severe neonatal nemaline myopathy is fatal, there are milder forms of the disease, and lately, evidence has accumulated that babies who survive breathing difficulties in this early period may eventually gain muscle strength.
"This disease is different from a muscular dystrophy," says Alan Beggs, an MDA researcher at Children's Hospital in Boston who is studying the genetic causes of nemaline myopathy. "The muscle is not actually dying as it does in muscular dystrophy, it just isn't functioning as well as it should be.
As children get older and their muscle bulk increases, they may be able to compensate and reach motor milestones." Beggs is quick to point out, however, that the severity of the disease is highly variable, and some infants may not make it despite the best care.
Susan Iannaccone, co-director of MDA's clinic at Southwestern Medical School/University of Texas in Dallas, agrees. "The prognosis is very different for each child with nemaline myopathy. A lot of doctors without experience treating nemaline myopathy assume that the child will die, and a lot probably do. But we also know that many don't."
Three months after Brent's birth, bolstered by his progress and their renewed hopes, the Kurtzes wanted to take their child home from the hospital. But bringing home an infant who is dependent on complicated medical equipment requires a lot of preparation.
At first, they were given inappropriate, noisy equipment, and the nursing company they hired to assist missed shift after shift. Then, after another period in the hospital, Brent returned home with more appropriate equipment, and a much more satisfactory nursing company was hired.
The Kurtzes are convinced that learning to play an active role in their child's medical care has made all the difference in their ability to cope with the situation. As Doug put it, "We had to regain control of our child's life."
After Brent's birth, the Kurtzes decided that Doug should quit his job at a manufacturing plant to become their son's full-time health care coordinator, while Tina continued teaching and coaching cheerleading at a local high school.
A child with Brent's medical needs requires 24-hour-a-day attention. Between coordinating visits from Brent's therapists (physical, occupational, speech and early intervention), making sure the nursing shifts are staffed, ordering equipment and supplies, and overseeing general care, Doug finds his days quite full.
"I make trips to the doctors, set up appointments and do all the running around," he says. "It's a lot of administrative work." Doug also made it his business to talk to everyone on Brent's health care team and learn from them.
A critical tool was the use of a three-ring binder developed by Children's Hospital Medical Center in Cincinnati that puts all of Brent's information at his parents' fingertips. The binder includes lists of medications and dosages, hospital discharge summaries, a log of feedings, test results and photos of equipment and procedures. Doug takes this book to every medical visit and finds that clinical staff members appreciate having the information as well.
Doug and Tina say they've also learned to "read" their son better than any of the medical professionals.
"Nothing about the parenting process has been 'normal,'" Tina says. "We became the experts because we had to watch Brent very carefully to figure out when something was wrong. For instance, we learned that when Brent has a stomachache, he gestures."
Now the Kurtzes are old hands at high-tech parenting and are passing this information on to other parents in need. Doug describes a young couple they got to know during one of Brent's hospital stays whose new baby has myotubular myopathy.
"They were afraid to do the hands-on care, but we talked to them about our experiences, and by the time they left, they were bonding with their son and learning to suction."
Just short of his first birthday, Brent made his TV debut on WKEF in Dayton, on the local broadcast of the Jerry Lewis MDA Telethon.
At 14 months, he could sit upright by himself for a few minutes and reach out for toys.
"It's just incredible," Tina says. "He has a lot more muscle tone now and he's only a little bit delayed in motor milestones. His facial expressions have been really delayed, but they're there now. He smiles at us when we come into the room. He also opens his mouth wide and kicks his feet and stretches his arms outright when he's excited."
Recently Brent has begun to spend a few hours each day off the ventilator and is learning to tolerate things in his mouth in preparation for the eventual removal of the feeding tube.
Doug has returned to work part time and he and Tina are now watching eagerly for Brent to make each of those motor milestones. If he doesn't?
Doug falls back on the philosophy that sustained them in those first months. "We don't ask 'what if?' We just praise God and take it one day at a time."
Nemaline Myopathy: a Problem with Muscle Contraction
Nemaline myopathy causes muscle weakness and lack of muscle tone in two out of every 100,000 newborns. Though a great deal of variation in symptoms and severity is seen, the rare disorder is divided into three general clinical categories: a severe neonatal form (infants can't breathe on their own), a milder neonatal form (infants appear floppy and reach motor milestones late) and an adult-onset form (mild muscle weakness). Other symptoms include a high, arched palate, a narrow face and a nasal voice. The disorder doesn't affect intellect and children with nemaline myopathy are often very bright.
The diagnosis of nemaline myopathy is usually made based on the presence of tiny, abnormal threadlike "rods" in the muscle. These rods are made up of clumps of protein and can be seen clinging to the inner edges of muscle cells when viewed under a microscope. Alan Beggs of Children's Hospital in Boston doesn't think the rods actually cause muscle weakness.
In collaboration with other researchers, Beggs has identified defects in three genes that can lead to nemaline myopathy. The protein products of all three genes, alpha-tropomyosin, nebulin and actin, contribute to the "contractile fibers" of muscle cells — a network of thick and thin fibers that slip past one another to make muscle cells shorten during contractions.
"The rods are probably a byproduct of the specific protein defect in each person," Beggs says. "Muscle weakness more likely occurs because the muscle cannot contract properly without these proteins functioning properly in their normal locations."
Beggs and colleagues hope to learn more about the biochemistry of the proteins involved, with an eye toward developing therapies.
Web sites on nemaline myopathy