Mason on his 8th birthday.When Anne Grahl of Oshkosh, Wis., viewed her routine 19-week ultrasound, she could see a large black spot on the image. Her baby’s bladder was in the shape of a "keyhole."
She and husband Gregory knew it was not good news.
Their unborn baby boy 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.
While undergoing additional LUTO testing 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 (CHOP).
"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 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 bladder testing, the Fetal team told her they recommended going ahead with a shunt.
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!"
Anne felt reassured by the experience and knowledge of the CHOP team, experts in the field of fetal medicine who were familiar with treating LUTO and knew what her baby needed to achieve a good outcome. "They had a good feeling going into the surgery, and had a good handle on things," Anne says, confidence they passed on to the nervous parents.
The LUTO-correcting shunt was placed successfully by Mark Johnson, MD, attending physician and obstetrical director at the Center for Fetal Diagnosis and Treatment. After a week of bed rest for Anne, and continued evaluation of the shunt placement, the couple went home. Each week they returned to their specialist in Milwaukee for follow-up ultrasounds. "I was holding my breath each time," she recalls.
Things were fine until about 30 weeks into Anne’s pregnancy. 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,” says Anne. “I still didn't know if the baby would be OK."
At 34 weeks her water broke. After one week of bed rest, Anne had a vaginal delivery at the Milwaukee hospital. Mason was born May 7, 2003, weighing 6 pounds, 6 ounces. 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 after earning his orange belt in karate.In addition to his prenatal diagnosis of LUTO, Mason was diagnosed with prune belly syndrome, which involves absent or deficient abdominal wall muscles, undescended testes and an abnormally dilated urinary tract. He 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," says Anne. On May 2, 2006, she donated a kidney to her son.
"He actually has three kidneys now, although one is tiny and nonfunctioning and the second minimally functioning." The latter is slated to be surgically removed, which will be 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 two years passed cancer free, he was able to end dialysis and have the kidney transplant. He continues to be in remission.
By the time he was 4 years old, Mason had 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.
"It's been emotionally draining, but I wouldn't do anything differently,” she says. “Children's Hospital gave my son the chance to live. 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.”
Just shy of his 11th birthday, Mason is very active and has tons of energy just like his fourth grade classmates. He likes to ride his ATV through the mud, ride his bike, build Legos, build forts, and his favorite sports to play are karate, baseball and soccer.
His mom describes him as funny and caring. “He loves animals, being outdoors, playing with friends,” she says. “He loves wearing a tie for any occasion and he just wants to be a kid like everyone else.”
While he lives life to the fullest, there is still a long road ahead for Mason. The kidney transplant is not a fix, and he will likely need another transplant someday. His daily routine includes a catheter, medications and a minimum fluid intake to keep his kidney healthy. But despite these challenges, Mason never complains and he doesn’t let his medical conditions hold him back.
The Grahl family raises awareness for the conditions Mason has endured, and credits support from his medical specialists, support groups, and friends and family for helping them get through the ups and downs.
“Mason is our miracle boy and wouldn’t be where he is at today if it wasn’t for our wonderful experience at CHOP," says Anne. "Finding experts who could take care of us and Mason was priority after the devastating news, and they did that and more! We are forever grateful to them for giving us hope … and our son Mason!”
Updated March 2014