It was supposed to be one of the happy milestones for parents: Ashlee Stormer and Josh Urban were going to the pediatrician and learn if their baby would be a boy or a girl.
But what they learned rocked their happy world.
Their baby girl had severe hydrocephalus, once known as “water on the brain.”
The doctor could see no brain tissue, Stormer recalled.
“He said, ‘There is so much fluid in her head there is no room,’ ” she said at her East Conemaugh Borough home.
Hydrocephalus is characterized by excessive accumulation of cerebrospinal fluid in the brain, the National Institute of Neurological Disorders and Stroke website says. The clear fluid normally surrounding the brain and spinal cord was filling spaces inside the brain called ventricles, crushing their baby’s brain tissue against her skull.
Stormer does not remember hearing much cause for hope as the doctor described the prognosis and outlined options: The baby would probably not survive until birth. If she was born alive, she probably would not live very long. If she lived, she might never walk or talk or smile.
One option suggested was terminating the pregnancy.
“I couldn’t imagine terminating,” Stormer said. “That was very far from my mind.
“If she died in utero, that was God’s will. If she was born and lived for two hours, at least we had her for two hours. We could donate her organs for other babies.”
The couple were preparing themselves to deal with a severely handicapped child.
“We thought, ‘we’ll just make sure her life is the best it can be,’ ” she said.
Stormer was referred to specialists at Children’s Hospital of Pittsburgh and Magee-Womens Hospital, both part of the UPMC system. The baby’s head had grown so much, doctors decided to plan a cesarean section delivery.
On Feb. 6, Taylor Urban was born at Magee and immediately flown by helicopter the three miles to Children’s.
“We got to see her for about ten minutes at Magee,” Stormer said. “They showed her to us very briefly before they took her to Children’s.”
Taylor underwent emergency brain surgery at
Children’s. Neurosurgeon Stephanie Greene placed a long tube, called a shunt, connecting Taylor’s brain with her abdomen, allowing the fluid to drain.
“I had to stay at Magee while she was getting brain surgery,” Stormer said. “That was the hardest part.”
Knowing in advance that Taylor would require the surgery greatly enhanced her chances of survival and minimized additional brain damage, Greene explained.
“Hydrocephalus is the most common thing we treat in pediatric neurosurgery,” Greene said. “Your body makes more fluid than you can absorb. It is most often an obstruction in the absorption process.”
Taylor’s was found to be caused by aqueductal stenosis: An obstruction in the tube between two ventricles of the brain, Greene said. It is one of the most common causes of hereditary hydrocephalus.
‘One little miracle’
It was clear from the start that “Miss Tay” – which her family almost immediately began calling her – was going to exceed the doctors’ predictions.
“We were told, as soon as she was born, they’d have to put her on a ventilator,” Stormer said. “She came out crying.”
They expected a two-week stay in Children’s neonatal intensive care unit. Miss Tay was discharged in a week.
“She just did phenomenal,” her mother said. “It was like one little miracle after another.”
There have been some setbacks: Taylor’s shunt became disconnected in April, prompting more surgery. She was having seizures, but they seem controlled with medication, her mother said. She also has regular visits with occupational and physical therapists to help with her development.
But Miss Tay continues to overcome her perilous early development, achieving most expected milestones in her first six months of life.
Study yields results
Stormer believes Taylor’s participation in a cutting-edge scientific study has given her daughter a better chance.
The study led by Dr. Joanne Kurtzberg, director of Duke University blood and marrow transplant program, uses blood leftover from Taylor’s birth in an attempt to repair damaged brain cells. The stem cell blood from Taylor’s umbilical cord and placenta was preserved and frozen after her delivery.
Stormer found out about the study while she was pregnant and learning more about hydrocephalus, its effects and treatments.
“We decided this was something we wanted to try,” Stormer said. “It can’t hurt them. It’s their own cord blood.”
Stormer and Urban contacted Kurtzberg and got supplies and information to collect the cord blood. Working with Magee’s staff, they were able to preserve enough for about three infusions. Taylor went to a Duke hospital in Durham, N.C., for her first infusion in May.
“The differences in her were amazing,” Stormer said. “She was doing things she never did. Before she was just a kind of lump. She didn’t interact and she was not (visually) tracking.”
The therapists noticed the difference, too.
“Before, they were worried about her,” Stormer said. “The first time they saw her after (the infusion), it was like, ‘Wow! Look at this.’ ”
Even her pediatrician was impressed.
“The pediatrician said, ‘I’d never put this baby with those X-rays from her birth,’ ” Stormer said.
Results are still being tabulated on the first phase of Duke’s study, Kurtzberg said. But Taylor’s results seem to be typical.
“We are encouraged by what we are seeing,” Kurtzberg said. “The neurosurgeons who put in the shunts are encouraged. Babies getting the (cord blood) cells are having better results.”
Miss Tay’s neurosurgeon is no exception.
“I can’t say I am shocked,” Greene said. “But I am happy with how she is doing.”
Because hydrocephalus is a rare condition, only Taylor is one of just 35 babies included in the study so far. They are compared with other hydrocephalus babies who also received shunts, but did not have cord blood infusions.
Since the study involves such a small number, is not “randomized” and has no placebo group, it must show a large difference to be considered significant, Kurzberg admits.
“We have to see bigger differentiation in survival, in neurological function, in cognitive function and other components like seizures and vision that can be affected,” Kurtzberg said, noting that a 20 percent difference would be considered enough evidence to recommend the infusions.
Complicating things is the fact that babies with hydrocephalus can also have other brain anomalies.
“You can’t sort those out when the baby is first diagnosed and born,” Kurtzberg said. “It can take several years before you can evaluate how the brain is forming.”
Umbilical cord stem cells are showing promise in treating certain brain disorders in babies, including cerebral palsy, Kurtzberg said. As part of the baby’s early development, stem cells can help continue that development after birth, the evidence is showing.
Or as Stormer understands it: “The theory is that stem cells are building block cells. They can repair damage that was done while the brain was smooshed in utero.”
Because it is experimental, Miss Tay’s cord blood infusions may not be covered by insurance.
Although Duke provides the $3,000 cord blood banking for free, and agreed to submit medical expenses to the insurance company, Stormer said it doesn’t look promising.
“We just got a notice from the company questioning $8,000,” she said. “If they question it, it’s probably ‘no.’ ”
They have already spent about $2,000 on blood collection and transportation costs.
Friends have stepped forward to help with the expenses, holding some fundraisers, with more coming soon. The efforts are coordinated through the website: http://www.gofundme. com/misstay.
“It is not just about raising money,” Stormer said. “I want people to know what hydrocephalus is.”