Her rare condition, discovered before birth, required a unique team of specialists pressed into service from Day One.
Kathleen Gill met pediatrician Patrick Gerbus well over a month before her daughter Piper was born, but their meeting was not your typical get-to-know-your-pediatrician visit.
A few weeks earlier, a specialist examining an ultrasound had delivered a devastating diagnosis: Kathleen’s baby had a rare and potentially life-threatening genetic defect. Later diagnosed as TAR syndrome, short for thrombocytopenia with absent radius, the condition occurs in four out of a million births and is characterized by skeletal problems and dangerously low levels of blood-clotting platelets.
When Kathleen showed the ultrasound image to Dr. Gerbus, he immediately realized that this baby would need meticulously coordinated care from a team of pediatric specialists. In all, she would require the expertise of orthopedic and plastic surgeons, a geneticist, hematologists and neonatologists, as well as physical and occupational therapists.
That care began June 24, 2005, the minute Piper Gill was born. In the delivery room at Chesapeake Regional Medical Center, Kathleen worried that her baby daughter might not be alive. “I held my breath until she cried,” she said. Though aware of the challenges ahead, Kathleen and her husband Tom were thrilled when they held little Piper for the first time.
That first cuddle, however, had to be cut short. Because Piper lacked an adequate number of blood-clotting platelets, she was at great risk of hemorrhaging from internal bleeding. She needed to be transported immediately – via CHKD’s intensive care transport service – to the region’s only Level 4 neonatal intensive care unit.
At CHKD, pediatric hematologist Eric Werner oversaw the critical infusions of platelets to ensure clotting of Piper’s blood. At midnight, he made the call to the worried parents that their baby was doing well and in good hands.
Piper spent four days in CHKD’s NICU under the care of neonatologists and Dr. Werner. At first, her platelet levels fluctuated, but within a week, she was stabilized and ready to go home with her parents. “It’s a very proud feeling walking through the door with your new child,” Tom said.
But the Gills wouldn’t be away from CHKD caregivers for long. Over the next year, they made more than 100 visits to Dr. Gerbus, Dr. Werner and other specialists, sometimes for platelet transfusions and other times to address her orthopedic problems.
Pediatric orthopedic surgeon Marc Cardelia explained to Tom and Kathleen that Piper’s most pressing orthopedic problem was the absence of radius bones in both arms.
“The wrist is designed to rest on two long arm bones, but with TAR syndrome, the bone on the thumb side – the radius – is missing,” Dr. Cardelia explained. “Because of that, Piper’s wrist collapsed to the thumb side, and the single bone curved inward like a bow. The hand sat like a flap inside the curve, almost non-functional.”
When Piper was 18 months old, Dr. Cardelia referred her to Dr. Ivor Kaplan, a plastic surgeon fellowship-trained in both microsurgery and hand surgery, a dual-subspecialty that was exactly what Piper needed.
“We discovered that only a handful of surgeons can do this type of reconstructive hand surgery in children, and he just happened to operate at CHKD,” Kathleen said.
The surgery on Piper’s arm was extraordinarily complex. “During surgery, we inserted a straight metal rod through the single arm bone she was born with and then crafted a functional wrist joint using Piper’s own bone and cartilage,” Dr. Kaplan explained.
“We then re-anchored tendons and ligaments so that the new wrist joint would be stable and she would be able to move her hand and fingers.”
Eight weeks after the first reconstructive surgery, Piper’s cast was removed, and with the help of CHKD physical therapists, she was soon able to use her wrist and fingers to pick up and manipulate objects.
After an identical and equally successful surgery to her left arm, Piper’s medical team turned their attention to her other skeletal problems.
As Piper matured, her shin bones – or tibia – were growing unevenly. The top of each bone was longer on one side than the other, making her severely bow legged.
To correct the growth imbalance, Dr. Cardelia tethered a metal clip straddling the growth zone on the fast-growing side of the bone on each leg. The clip, or growth modulator, worked well on her right leg, but the left tibia continued to grow unevenly. So, earlier this year, Dr. Cardelia performed surgery to even out the top of the shinbone. This gave Piper equal leg length on both sides with neutral alignment of her hips and spine and normal motion in her joints.
When a child has a condition that requires treatment by so many physicians, surgeons and specialists, seamless communication between caregivers is essential. “Your average community hospital wouldn’t have the variety of pediatric specialists required to treat this rare condition,” Dr. Gerbus said. “The Gills are fortunate to live in this region where CHKD has all the resources Piper needs.”
Kathleen, who is a life-safety specialist with the Virginia Beach Fire Department, and Tom, a construction manager and consultant, agree.
“We can’t express our gratitude enough to CHKD for the care they give our daughter,” Kathleen said.
Over the past few years, Piper’s bone marrow has started to produce platelets and her visits to CHKD’s hematologists for platelet infusions are less frequent.
At 5 years of age, Piper is spunky, full of life and has a personality that lights up a room. She has sufficient dexterity with her arms and hands to do just about anything she wants to do. She especially loves to flip through her favorite book featuring Skippyjon Jones and is hard to beat playing Wii Sword Fighting. In short, she tackles every challenge with confidence.
Now in kindergarten, Piper is making friends and enjoying school. “Piper is one of the coolest people you’ll ever meet,” her proud mom reports.
Dr. Gerbus practices with CHKD Medical Group’s Pediatric Specialists. Dr. Cardelia practices with CHKD’s Orthopedic Surgery and Sports Medicine. Dr. Werner practices with Children’s Specialty Group PLLC at CHKD. Dr. Kaplan practices with Magee-Rosenblum Plastic Surgery.
This story was featured in the fourth quarter 2010 issue of KidStuff, a publication of Children's Hospital of The King's Daughters. Click to read more patients' stories.