A tiny baby born without kidneys to a United States Congresswoman is receiving treatment at Lucile Packard Children's Hospital. The baby likely be the first to survive a diagnosis previously considered fatal.
The infant is receiving dialysis at Packard Hospital and will eventually have a kidney transplant, the hospital announced on Monday.
Abigail Rose Beutler is the daughter of Congresswoman Jaime Herrera Beutler and husband Daniel Beutler. She was born July 15 with Potter's Syndrome, a disorder that was caused by bilateral renal agenesis, failure of both kidneys to develop during gestation. It is traditionally considered fatal.
But doctors believe that medical procedures performed while she was still in the womb will help the baby survive.
Potter's Syndrome is associated with a deficiency in amniotic fluid often caused by a baby's prenatal kidney failure.
For Abigail, not having kidneys resulted in a complete absence of amniotic fluid in the womb, which is critical to lung development. The condition often results in terminated pregnancy; babies born with the condition suffer from severely undeveloped lungs. They are unable to breathe once outside of the womb.
During the second trimester, a team of specialists at the Johns Hopkins Hospital in Baltimore, Md. gave the Congresswoman serial amnioinfusion, an uncommon treatment in which a saline solution is injected into the womb in the place of amniotic fluid to help development.
Abigail was delivered early at 28-weeks' gestation at Legacy Emanuel in Portland, Ore. She is the first baby on record with bilateral renal agenesis to breathe on her own.
"Through the outreach of a parent who had faced a similar situation, we found a group of courageous and hopeful doctors at Johns Hopkins who were willing to try a simple, but unproven treatment by amnioinfusion," the Beutlers said in a statement.
"Every week for five weeks, doctors injected saline into the womb to give Abigail's lungs a chance to develop. With each infusion we watched via ultrasound as Abigail responded to the fluid by moving, swallowing and 'practice breathing.'
"The initial lack of fluid in the womb caused pressure on her head and chest, but over the course of the treatment we were able to watch them reform to their proper size and shape. Her feet, which were clubbed in early ultrasounds, straightened. There was no way to know if this treatment would be effective or to track lung development, but with hearts full of hope, we put our trust in the Lord and continued to pray for a miracle," they said.
After the fifth infusion, Beutler went in to early labor while at home in Washington state. Abigail was delivered four days later with fully developed lungs. Without functioning kidneys, she was still critically at risk and required immediate dialysis under intensive care.
At 16 hours old, she made her first trip from Portland to Packard Hospital. She had surgery the next day and began dialysis immediately after, hospital officials said.
"The first doctors we encountered told us that dialysis or transplant were not possible. No local hospital was prepared to perform the procedure necessary -- peritoneal dialysis -- on a baby so small. Johns Hopkins was willing, but too far to transport. After a day of searching, we found a team at Lucile Packard Children's Hospital who were 'happy to have her,'" the Beutlers said.
Despite Abigail's prematurity, small size and life-threatening disease, she is doing well, said Dr. Louis Halamek, neonatologist at Packard Hospital and professor of neonatal and developmental medicine at the Stanford School of Medicine.
"Together with our colleagues in pediatric nephrology, we are cautiously optimistic about her future," he said.
Abigail is currently active, stable and breathing on her own. Though her doctors are uncertain what her future holds, she will require ongoing dialysis and an eventual kidney transplant, Packard Hospital officials said.
Doctors are cautiously optimistic that early treatment using serial amnioinfusion could aid other infants with bilateral renal agenesis.
"It would be premature to say bilateral renal agenesis should always be treated using serial amnioinfusion, but this suggests it can be part of the conversation when that is the diagnosis. Hopefully science will evolve to the point where we will be able to save babies with this defect. But so far this is just one isolated case whose ultimate outcome is still unknown," said Dr. Jessica Bienstock, who led the Johns Hopkins team that performed the amnioinfusions.
The Beutlers said they are grateful to doctors and nurses in Baltimore, Vancouver, Portland and California who were not willing to accept the fatal diagnosis, "but were willing to fight for the impossible. ... We are grateful to the thousands who joined us in praying for a miracle. But most of all, we are grateful to God for hearing those prayers."