“If I had to sum Miah up in one word,” says her mother Stephanie, “it would be determined!”
Today, Miah can do things her mother and father, Jeremiah, never would have dreamed possible when they first learned she had myelomeningocele, the most common and severe form of spina bifida, just 18 weeks into their pregnancy with her.
Myelomeningocele (MMC) is a birth defect in which part of the developing spine fails to close properly, leaving the spinal cord and surrounding nerves exposed to amniotic fluid through a hole in the back. This exposure causes damage that can result in a variety of issues, including bladder and bowel problems, paralysis, and weakness or loss of feeling below the location of the opening.
Termination was the first option presented to the couple by maternal-fetal medicine specialists (MFMs) at a hospital in Pittsburgh, not far from their home. When the couple asked what other options were available, the MFMs said they could perform prenatal surgery to repair the defect. But when Jeremiah asked how many such surgeries they had performed to date, the specialists said none, which didn’t give the couple a lot of confidence.
Finding the best options for Miah
Stephanie, a NICU nurse, reached out to a colleague in genetics, who recommended The Children’s Hospital of Philadelphia (CHOP), which has extensive experience with prenatal diagnosis and treatment of spina bifida as well as a specialized Spina Bifida Program. After reviewing the CHOP website, they discovered the Center for Fetal Diagnosis and Treatment (CFDT).
At the CFDT, Stephanie and Miah would have access to clinicians who actually pioneered the surgical procedure to repair MMC before birth. The CFDT team had been performing the procedure at CHOP since 1998 and had recently released a groundbreaking, seven-year study that showed that operating on a baby in the womb can produce better outcomes than traditional repair after birth. That research showed improved neurologic function and better chances of a child being able to walk independently. It was the experience Stephanie and Jeremiah were looking for.
“Establishing fetal surgery for spina bifida as a standard of care option was one of the most exciting developments in the history of the treatment for birth defects, and one that our CHOP team has spent years helping to pioneer,” said N. Scott Adzick, MD, surgeon-in-chief at CHOP and director of the Center for Fetal Diagnosis and Treatment. Adzick was the lead author of the MOMS trial paper published in the NEJM in 2011.
“Every video we watched and every story we read on the center’s webpage convinced us that going there and getting fetal surgery was Miah’s best shot,” says Stephanie.
Less than a week later, the couple and their 1-year-old son drove five hours to Philadelphia for a full-day evaluation and advanced diagnostic testing. A fetal MRI confirmed the presence of the Arnold-Chiari malformation, a potentially life-threatening condition in which the hindbrain descends into the upper portion of the spinal canal in the neck, making Miah a candidate for fetal surgery.
Trust your instincts
At 21 weeks gestation, Stephanie underwent fetal surgery at the CFDT. After surgery, Stephanie stayed on modified bed rest at a local Ronald McDonald House for a month, with weekly check-ups at CHOP, and then headed home with her family to continue the pregnancy. But a few weeks after returning home, Stephanie started leaking fluid. Another fetal surgery mom she had met while at CHOP had been admitted to the hospital for leaking fluid, so Stephanie was concerned. But when she told her MFM in Pittsburgh, he downplayed it.
As a nurse, Stephanie had been taught the importance of advocating for patients. Now she found herself needing to advocate for her unborn child. After two weeks of leaking fluid, she took matters into her own hands, made an appointment at CHOP, and headed back to Philadelphia with her family.
“CHOP is like Disney World,” she says. “Anywhere else feels like a local fair. It’s just so amazing. It’s what kept pulling me back.”
The family settled into a hotel near Children’s Hospital with the plan being checkups once a week until Miah’s birth in CHOP’s Garbose Family Special Delivery Unit (SDU). But just one week later, in the midst of Hurricane Sandy, Stephanie’s water broke and Miah was born at 34 weeks.
"Babies with special needs require very specialized and experienced care, both before and after birth — and so do their mothers," said Julie S. Moldenhauer, MD, maternal-fetal medicine/reproductive genetics specialist and medical director of the Special Delivery Unit. “Traditionally, these mothers will give birth in one hospital, and their newborn will be transferred to a pediatric hospital shortly after delivery. The SDU changed that by allowing for mother and baby to be simultaneously cared for at one institution by a team with great experience and expertise.”
Miah suffered severe jaundice due to an incompatibility with Stephanie’s blood type. But after 15 days in CHOP’s Newborn/Infant Intensive Care Unit, the jaundice cleared and the family was able to return home, now as a family of four.
A determined spirit
Miah has had some medical issues as a result of spina bifida. She uses a catheter due to repeat urinary tract infections, doesn’t have bladder and bowel function, and has had surgery for tethered cord and a shunt. But she can walk independently with the help of orthotics, and her latest achievements include jumping and standing on her tiptoes. She also has no developmental or cognitive delays. In fact, her verbal skills at her 3-year evaluation were at a 4-year-old level, says her mom.
Stephanie and Jeremiah credit the CHOP experts who performed the fetal surgery, which completely reversed the Arnold-Chiari malformation, for giving Miah the chance at the life she’s leading today.
“We feel very blessed to have found CHOP,” says Stephanie. “Miah’s life would be completely different if it weren’t for the Center for Fetal Diagnosis and Treatment. When I tell people she has spina bifida they say, ‘Are you kidding? I would have had no idea.’”
Miah’s favorite thing to do is play outside with her big brother, riding bikes, kicking a ball, swimming or playing in the sandbox. Her parents are confident that her spirited determination will get her through any challenge she might face in the future.
“Too many parents choose termination because they are unaware of all their options,” says Stephanie. “Don’t be afraid to push for second opinions and the best possible care, even before your child is born.”
Originally published June 2016
Updated June 2017