While
in utero, Abigail was diagnosed with Potter's Syndrome, caused by bilateral
renal agenesis. Potter's Syndrome is a condition associated with a deficiency in
amniotic fluid often caused by a baby's prenatal kidney failure. In Abigail's
case, absence of the kidneys resulted in anhydramnios, or a complete absence of
amniotic fluid in the womb, which is critical to lung development. The condition
often results in terminated pregnancy, as babies born with the condition suffer
from pulmonary hypoplasia, or severely undeveloped lungs, and are unable to
breathe once outside of the womb.
Upon
receiving Abigail's diagnosis during the second trimester, Jaime and Daniel
found a team of specialized physicians at The
Johns Hopkins Hospital in Baltimore, Md. In their care, Jaime underwent
serial amnioinfusion, a relatively uncommon treatment, in which a saline
solution is injected into the womb in the place of amniotic fluid to facilitate
development.
When
delivered pre-term at 28-weeks' gestation in Portland, it is believed Abigail
became the first baby on record with bilateral renal agenesis to breathe
sustainably 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," said Jaime and Daniel. "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."
After
the fifth infusion, Jaime went in to pre-term labor while at home in Washington
state and Abigail was delivered four days later with fully developed lungs,
indicating the serial amnioinfusion treatment had successfully mitigated the
risk posed by anhydramnios in the womb. Without functioning kidneys, she was
still critically at risk, however, and required immediate peritoneal dialysis
under intensive care. At sixteen hours old, she made her first trip from
Portland to Palo Alto, Calif., and with the recommendation of pediatric
nephrologists at Johns Hopkins was placed under the care of an experienced team
of specialized physicians at Lucile Packard Children's Hospital at Stanford University. She
had surgery the next day and began dialysis immediately after.
"The
first doctors we encountered told us that dialysis or transplant were not
possible," said Jaime and Daniel. "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.'"
"Despite
Abigail's prematurity, small size and life-threatening disease, she is doing
well," said Dr.
Louis Halamek, neonatologist at Packard Children's 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."
"This
case is unprecedented," said Dr.
Jessica Bienstock, a professor of maternal-fetal medicine in the Department
of Gynecology and Obstetrics at the Johns Hopkins University School of Medicine
who led the Hopkins team that performed the serial amnioinfusions. "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."
Abigail
is currently active, stable and breathing on her own at Packard Children's.
Though her doctors are uncertain what her future holds, she will require ongoing
dialysis and eventual transplant.
"We
are grateful to the doctors and nurses in Baltimore, Vancouver, Portland and
California who, like us, were not willing to accept the fatal diagnosis, but
were willing to fight for the impossible," said Jaime and Daniel. "We owe a
special thanks to Dr. Jessica Bienstock at Johns Hopkins, Dr.
Fred Coleman at Legacy Salmon Creek Hospital, Dr. Anya Bailis at Legacy
Clinic Maternal Fetal Medicine, and the entire team at Lucile Packard Children's
Hospital. 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."
For
more information on Abigail's specific case, to access photos of the family at
Packard Children's or to see full statements from Jaime and Daniel, The Johns
Hopkins Hospital and Lucile Packard Children's Hospital, visit http://www.crosbyvolmer.com/jhbeutler/.
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