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At the 20-week anatomy scan for Sean and Nikki Watson’s fourth child, the couple from Lower Burrell, Pa., learned that their new baby likely had skeletal dysplasia — a group of hundreds of bone and cartilage disorders that can develop in utero. The baby’s femurs were shortened and curved, a marker for genetic conditions.
Sean and Nikki returned for follow-up testing, and the picture became both clearer and more frightening. Amniocentesis confirmed that their baby had osteogenesis imperfecta (OI). His limbs were shortening and fracturing in the womb.
Osteogenesis imperfecta, also known as brittle bone disease, affects only one in 10,000 to 20,000 people worldwide. In the United States, 25,000 to 50,000 people have the condition.
Niko was delivered vaginally at UPMC Magee-Womens Hospital on July 15, 2017, just a couple of days before his due date. He spent five days in UPMC Magee’s neonatal intensive care unit (NICU). At birth, he had 26 rib fractures that most likely occurred in the womb and were in various stages of healing. He also sustained an acute arm fracture at birth.
While at Magee, the Watsons met Carol May, RN, MSN, MBA, CHPN, who was visiting families in Magee’s NICU. May is manager of the Supportive Care Program at UPMC Children's Hospital of Pittsburgh, which aims to improve the quality of life for patients and families facing life-threatening diseases.
May recommended the Watsons take advantage of the Complex Care Center at UPMC Children’s Hospital. Under the direction of Stacey Cook, MD, PhD, the center serves as the central point of contact for families with children with complex medical needs who use many services at UPMC Children’s —families just like Niko’s.
“Nikki is truly a warrior. She epitomizes the role of the parent advocate,” says Dr. Cook. “She never gave up on Niko and he is thriving in a way that is truly inspiring. It is an honor to participate in his care.”
After the Watsons started working with Dr. Cook, Niko began his own journey. He had a hernia repair at 5 weeks. At 8 weeks, Niko began infusion therapy with Luigi Garibaldi, MD, director of the Division of Pediatric Endocrinology. Today, he continues to undergo a four-hour infusion every 10 weeks at UPMC Children’s Infusion Center to strengthen his bones as they grow.
Nikki says, “some of the real superstars are the IV team — Jonathan, Arlene, and Christy,” “They are the real rock stars who administer an IV with no tourniquet on a fragile kid like Niko. They say he has great veins!”
Niko also was a candidate for a specialized surgery offered at another children’s hospital. Dr. Cook advocated with the insurance companies so that he could undergo bilateral femur and tibial rodding surgery on April 30, 2019. The surgery put telescoping rods in his femurs and his tibias — all four bones at the same time.
The rods were a game-changer for Niko. They will grow with him, offering stability and support while increasing his mobility and decreasing his chance of traumatic fracture.
“Dr. Cook has been a literal lifesaver for us — supportive, attentive, and an advocate for Niko's care, every step of the way. We are so fortunate to have her,” Nikki says.
Niko is now 2-1/2, with curly hair and a mischievous smile. Since birth, he has only had a couple of additional fractures, his mom says.
“Any OI family would say that it’s not as scary as they’re led to believe. It’s manageable.”
Niko now uses a walker and a wheelchair when he needs to keep up with others.
“He is a very smart, happy, communicative, energetic, fun kid. He wants to play. I know he has OI but he’s just like the other kids. My biggest challenge is keeping him challenged,” says Nikki.
“I’m just excited for him and happy for him. He’s an awesome person. I’m honored to be his leader and his parent.”
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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