Maryam, Steven and 2-year-old Vinny were a happy family of three eager to expand to a family of four. After two miscarriages, they were ecstatic to learn they were pregnant with their daughter, Kaitlyn.
For her 20-week ultrasound, Maryam planned to have the obstetrician write the baby’s gender on a piece of paper that she and Steven would then read the next day. They hired a photographer to be present during the gender reveal, to capture their excitement.
Those plans took a turn, however, when the ultrasound revealed the baby had spina bifida. Spina bifida is a birth defect in which an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and spinal nerves exposed through an opening in the back.
Maryam, who was at the appointment alone, was beside herself. She ran out of the obstetrician’s office, which wasn’t far from her home near Princeton, NJ, and drove to a nearby hospital to see a specialist.
Steven met Maryam at the specialist’s office. There, they learned more details about the severity of the condition, namely that it was the most serious form of spina bifida, called myelomeningocele (MMC). Part of the baby’s spinal cord and surrounding nerves were pushing through the open bones in the spine and protruding through her back. The specialist suggested they go to Children’s Hospital of Philadelphia (CHOP) for care. CHOP’s Center for Fetal Diagnosis and Treatment (CFDT) has the world’s greatest depth of experience managing pregnancies diagnosed with spina bifida.
“There is nowhere in the world you would rather be,” says Maryam.
Fetal surgery for severe spina bifida
Generally, the higher the spina bifida defect is located on the spine, the more severe the complications. A comprehensive evaluation at the CFDT revealed that the opening in the spine was high. The baby also had the Arnold-Chiari II malformation, in which the brain descends into the upper portion of the spinal canal in the neck. This herniation of the hindbrain blocks the circulation of cerebrospinal fluid, causing hydrocephalus, (an accumulation of fluid in the brain), which can injure the developing brain.
The CFDT’s interdisciplinary team met with Maryam and Steven to discuss the severity of the condition and possible treatment options. Maryam and Steven were most concerned about the effect the Chiari malformation could have on their child’s mental functioning. While fetal surgery is no guarantee, it offered hope for improved outcomes. But they needed to act quickly.
Maryam underwent fetal surgery shortly after the evaluation. After a few days recovering in the hospital, she returned home. She needed to stay on bed rest and restricted activity until her planned delivery date at 37 weeks’ gestation, so Steven’s mother took leave from work and moved in with the family to help out. Friends made them meals and helped out with Vinny, when needed.
“If it wasn’t for our support system and the CFDT team and the confidence they gave us, I don’t think we could have handled it. Everybody together made this happen.”
Maryam returned to CHOP for weekly appointments to monitor her condition. During those appointments, ultrasounds showed the Chiari malformation gradually reverse itself.
Just like the other kids
Kaitlyn was born in CHOP’s Garbose Family Special Delivery Unit, the world’s first delivery unit within a freestanding pediatric hospital, which was created specifically for healthy mothers carrying babies diagnosed with birth defects. She stayed in CHOP’s Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit for six days, where she was closely monitored by a multidisciplinary team that included neurosurgeons, urologists, orthopaedic specialists, physical therapists and others from CHOP’s Spina Bifida Program, and was discharged home.
Now 5, Kaitlyn has no cognitive disabilities from her condition. Physically, she has little to no feeling from the waist down, so she relies mostly on her wheelchair to get around. She’s also had some bladder issues. She had to have surgery to expand her urethra, uses a catheter to go to the bathroom, and takes medication to prevent urinary tract infections. She has returned to the Spina Bifida Program regularly since birth for physical therapy, occupational therapy, and monitoring of her kidney and bladder function.
Despite her health challenges, Kaitlyn doesn’t see herself as having a disability, says Maryam. She just started kindergarten, and she and her friends all like the same things: playing dress up, playing with Barbie dolls, drawing and coloring.
“She’s very social,” says Maryam. “She’ll go anywhere and do anything. It doesn’t stop her. She doesn’t care. She really just feels like she can do anything. That’s her mindset, and I love it.”
The family loves attending the Center for Fetal Diagnosis and Treatment’s annual Fetal Family Reunion every year, not only because they get to see the team members who helped them through one of the hardest times of their lives, but also because it has offered them an opportunity to meet and become good friends with other families going through the same thing.
“We owe everything to CHOP,” says Maryam. “She’s wonderful. She’s a blessing. She’s happy and she’s intelligent, and she’s going to do great things. She may have physical difficulties, but she’s going to be just fine. We couldn’t be happier.”