When Anne Grahl, Oshkosh, WI, viewed her routine 19-week ultrasound, she could see a large black spot on the image. The appearance of the fetal bladder was in the shape of a "keyhole."
She and husband Gregory knew it was not good news.
The unborn male fetus had a rare birth defect called lower urinary tract obstruction (LUTO), sometimes referred to as keyhole bladder. It involves obstruction of the fetal urine flow into the amniotic fluid. The result can be severe kidney damage (renal dysplasia) and underdevelopment of the lungs (pulmonary hypoplasia), both life-threatening conditions.
Her local obstetrician told them there was no hope: the baby probably wouldn't survive the pregnancy. "We were devastated," she says.
As further LUTO testing continued at a Milwaukee children's hospital, the Grahls were put in touch with experts in managing keyhole bladder: the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia. "We found out that while there were a lot of issues, something could be done if certain criteria were met," says Anne. "We had hope, although no guarantees."
LUTO testing continued in Milwaukee, including a series of three serial bladder taps performed over the course of three to four days. Since urine from the first bladder drainage is old urine, and urine from the second drainage represents urine that may have emptied from the kidneys, the third and most recent urine specimen is usually the most reliable for analysis.
When electrolyte and protein levels in the urine sampling indicated good kidney function, the couple traveled to Philadelphia for further testing and the possibility of having a shunt placed in utero.
"We spent a week undergoing all sorts of tests: an ultrafast MRI, more ultrasounds and bladder tests and an echocardiogram to check the heart," Anne says. At the end of the keyhole bladder testing, the Fetal team told me her they recommended going ahead with a shunt. "I was at 20 weeks then."
The procedure was similar to amniocentesis, she says. "They made a small incision in my belly, and did the procedure through a tiny tube. I still can't believe it!"
She says she felt reassured that the surgery could go well since the Children's team had experts in the field, and knew what the baby needed for success. "They had a good feeling going into the surgery, and had a good handle on things," Anne says, confidence they passed onto the nervous parents.
The LUTO-correcting shunt was placed successfully. After a week of bed rest for Anne, and continued evaluation of the shunt placement, the couple went home to Wisconsin. Each week they returned to their specialist in Milwaukee for follow-up ultrasounds. "I was holding my breath each time."
Things were fine until about 30 weeks, she recalls. The shunt didn't appear to be working — urine was not coming out of the bladder so amniotic fluid was shrinking. Anne received four injections to increase the amniotic fluid and help prevent lung or kidney damage.
"It was so stressful and hard to deal with. I still didn't know if the baby would be okay."
At 34 weeks her water broke. After one week of bed rest, she had a vaginal delivery at the Milwaukee hospital. Mason was born May 7, 2003, weighing 6 lbs. 6 oz. He was immediately taken to the NICU without Anne being able to hold him.
The shunt was the only way the baby could urinate due to the blockage in his urethra — and the Fetal team wasn't sure if the blockage could eventually be fixed. At 12 days old, Mason had surgery for a vesicostomy (an opening for bladder drainage) and the shunt was removed. At 3 months old, the blockage in the urethra was opened and a small catheter was inserted to keep the urethra open.
Mason also was diagnosed with Prune Belly Syndrome, which involves absent or deficient abdominal wall muscles, intra-abdominal (undescended) testes, and an abnormally dilated urinary tract.
In addition, Mason also had kidney failure from birth, including a nonfunctioning right kidney, which is associated with LUTO.
"They told me he would need to be on dialysis when he was born, but it wasn't necessary until he was 2 ½ years old." On May 2, 2006 his mother donated a kidney to her son. "He actually has three kidneys now, although one is tiny and nonfunctioning and the second minimally functioning." The later is slated to be surgically removed, making it surgery number 10 for Mason. (Additional surgeries included procedures for his undescended testicles.)
More challenges faced the Grahl family. At 7 months old, Anne saw something sticking out from Mason's side. It turned out to be stage 1 hepatoblastoma, a rare liver cancer. Half of his liver was removed and he successfully underwent four rounds of chemotherapy. When 2 years passed cancer free, he was able to end dialysis and have the kidney transplant. He continues to be in remission.
Now aged 4, Mason has caught up developmentally. "He didn't walk until 17 months, but now he is doing fantastic," says his proud mom. "He loves to be outside and play soccer or ride his bike. He also interacts with his older sister, just like any normal brother and sister," she laughs.
It's been a hard road, says Anne. A real roller coaster. "But it's worth it. Without the fetal surgery, Mason wouldn't have survived the pregnancy. There are options, and they do work. I hope other parents in the same circumstances can find this out.
"It's been emotionally draining, but I wouldn't do anything differently. Children's Hospital gave my son the chance to live."