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The Diagnosis: Arthrogryposis
After being in labor all night, Lynn Rueckert was exhausted when her baby finally arrived, at 6:45 a.m. on July 18, 2003. As her husband, Jack, cut the umbilical cord, the new parents realized something was wrong. There were a lot of doctors and nurses in the delivery room, whispering to one another as they examined the six-pound nine-ounce girl. "They let me hold her briefly, and I saw that she didn't look quite right," says Lynn, 33. "When they took her away for tests, I was terrified and couldn't stop crying."Several hours later, the Rueckerts learned that their daughter, named Kate, had significant scoliosis: Her spine twisted 30 degrees to the right, causing her back to hunch. What's more, her thumbs were tucked into her palms, the middle finger on her left hand was bent toward her wrist and she had a clubfoot. At first, doctors thought Kate might have Down syndrome, but she was later diagnosed with arthrogryposis, a rare birth defect that affects muscles and joints.
Over the next few months, Kate's fingers loosened up, thanks to physical therapy. But the scoliosis made it hard for her to eat, since her contorted bones squeezed her stomach. "We had to fight for every calorie because she vomited very easily," says Lynn, a Kewaunee, Wisconsin, stay-at-home mom who also has a six-year-old daughter, Alexandra. "Every day was horribly stressful. We fed Kate eight times a day through a tube, and most of it came back up. She'd gag if we gave her anything thicker than yogurt." The little girl grew painfully thin and gasped at the slightest exertion, such as reaching for a toy.
Kate's situation was dire. The Rueckerts searched for a specialist who could help and found Kenneth Noonan, MD, a pediatric orthopedic surgeon at University of Wisconsin Children's Hospital. When he examined Kate in 2004, her spine curved 90 degrees. "Such extreme scoliosis in an infant is potentially fatal, because there was very little room in her chest for her lungs to develop. As she got older, they'd stay very small, which could cause restrictive lung disease. Without effective treatment, she was likely to die by age 15 to 20."
For a few months, Dr. Noonan tried body casts, a spine-straightening treatment that's been used for over 40 years. But Kate didn't improve, Lynn says. "Her head leaned on her shoulder, and she couldn't look up." Kate found ways to compensate for her disability, however. She figured out how to turn on the TV with her toes, rolled from room to room, then zipped around on her bottom with such enthusiasm that her parents nicknamed her Scooter. When she finally learned to crawl, at 18 months, she looked like a tiny bulldozer because her forehead glided on the floor.
In 2005, Dr. Noonan suggested a surgical treatment that had been approved by the FDA the year before: implanting an artificial rib called a Vertical Expandable Prosthetic Titanium Rib (VEPTR). The nine-inch-long device has hooks on either end, the doctor explained: "It's attached to a rib at the top of the curve and the spine at the bottom, then acts like a jack to stretch the bones to the correct position." There were several risks, including bone fractures, infections and the possibility of spinal cord or nerve damage. And Dr. Noonan had never done the operation before.
"We were scared and nervous, but we trusted Dr. Noonan," says Lynn. She and Jack, a nuclear plant operator, researched the rib, which has been used in more than 300 cases nationwide. They learned that in cases like Kate's, the VEPTR is a huge advance over previous scoliosis surgeries, which can cause spinal fusion. That's okay for a teenager who has finished growing but not for a toddler like Kate.
To prepare for the procedure, the doctor flew to Texas to train with the device's inventor, Robert Campbell, MD, and also asked another surgeon who was highly experienced in the technique to assist with Kate's August 2005 operation.
Lynn and Jack braced themselves for a five- to six-hour wait as Dr. Noonan worried whether Kate's bones were tough enough to accept the device easily. "We were almost scared to hope too much," says Lynn. So when the doctor came back sooner than expected, they panicked, thinking something was wrong. But the procedure had gone smoothly. The Rueckerts visited Kate in the ICU. "We were amazed. She'd straightened so much that she looked two inches taller. And her cheeks weren't bright red anymore because she could breathe normally." She spent a night in the ICU, as a precaution, and four days in a regular room.
Since then, Kate, now three, has returned to Dr. Noonan twice to have the rib expanded by making a small incision, loosening a screw and rotating the VEPTR like a car jack. It will be adjusted every four to six months as she grows and, most likely, will be removed when she's older.
A friendly girl who loves to play with My Little Ponies, make up songs with her sister and scribble in coloring books, Kate recently took her first steps. Lynn cheered the accomplishment and rejoices to hear her daughter, whose appetite is much better, say, "Mommy, I'm hungry."
But Kate has loftier ambitions. She imitates everything in her sister's ballet class, though she can't make leaps and pirouettes--yet. "I want to jump to the moon," she boasts. "Then people would clap and say, 'Hooray for Kate!'"
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