Risks for a protein C deficiency
After consulting with a genetic counselor at Children’s Mercy, Amber and Blake learned that protein C deficiency is so rare that it affects only one in 500,000 people. But because they are both carriers of the variant, they had a 25% chance of having another child with the same condition.
When Amber became pregnant with their second child, she was on alert, and so was her high-risk obstetrician.
“Early in the pregnancy, my obstetrician wanted to have an amniocentesis to see if the baby had protein C deficiency,” Amber said. “But at that point, an amniocentesis was a risk to the pregnancy, so I decided to wait.”
As her pregnancy progressed, all continued to go well. “This pregnancy just felt different. I really thought that everything would be fine,” Amber said.
Because Amber had waited until her third trimester to have the amniocentesis and it took several weeks to get the results, she was 36 weeks pregnant before she knew her second baby also had severe congenital protein C deficiency disorder.
“When I found out this baby had the same clotting disorder as Ben, it was a blow,” Amber admitted. “But Ben’s stroke came out of nowhere. This time, we knew there was a chance for a stroke. I felt like we were being more proactive.”
Immediately, Amber’s obstetrician referred her to the Children’s Mercy Elizabeth J. Ferrell Fetal Health Center where a multidisciplinary team met with Amber and Blake to review the situation and develop a delivery plan.
Her team included Ben’s hematologist, along with specialists in maternal-fetal medicine, a neonatologist and a social worker.
Dr. Sharma reached out to a colleague at a hospital in another state who specializes in this disorder. To prevent a stroke, this physician recommended the baby receive a new medication the first day of life called Ceprotin.
Ceprotin is a synthetic version of the missing protein C, and it’s used to treat neonates born with this deficiency and to manage clotting risks for these patients in other critical health care situations, such as surgery.
“One in 2,500 babies has a stroke at birth, but we knew that the risks of stroke and life-threatening clots were much higher for this baby because of the genetic variance. The highest risk was at the time of delivery,” Dr. Sharma explained. “So, we made a plan for Amber to deliver at the Fetal Health Center, and to immediately treat the baby with Ceprotin to prevent clotting.”
Amber and Blake agreed with the plan, and they made another important decision about their baby’s future.
“We think that Ben’s stroke actually happened just before he was born,” Amber said. “This baby was almost full term and thanks to ultrasound scans, we knew he was healthy. I decided I would rather go ahead and deliver the baby so we could start treatment with the Ceprotin, than continue the pregnancy and risk that this baby might have a stroke.”
Amber called the Fetal Health Center team and told them what she was thinking, and since her delivery date was only two weeks away, they agreed.
The next day was May 1, 2019. Amber checked into the Fetal Health Center for a scheduled C-section, and a short time later, the baby arrived.
In the Children’s Mercy NICU, the baby received his first dose of Ceprotin, making him the first child at the hospital to be treated with this new FDA-approved medication.