It all started when Janet’s brother-in-law had knee surgery and formed a clot in his calf. The family previously never thought about blood clots. After learning from a relative that some in the family had a Protein C Deficiency, a disorder that increases the risk of developing abnormal blood clots, Janet’s husband and three kids got tested. All tested positive for the deficiency.
“It’s a benign disorder,” Janet says. “So many people have blood disorders that they don’t know they have. The problem is, if you don’t know you have a blood disorder and you play contact sports or you’re sedentary, those are risks. Thrombosis awareness is key to living a healthy life.”
Janet was determined to find a physician who specializes in thrombosis. The family’s pediatrician referred her to Neil A. Goldenberg, M.D., Ph.D., hematologist and director of research at Johns Hopkins All Children’s Hospital. Goldenberg focuses his clinical care and research on thrombosis and stroke.
“To find a doctor who specializes in pediatric thrombosis is rare,” Janet says. “All of the questions I’ve had for years, Dr. Goldenberg answered in just a few months.”
All three kids were retested for the Protein C Deficiency at Johns Hopkins All Children’s Hospital. Trevor, 18, who was originally diagnosed with the disorder, was the only child whose results came back negative. T.J., 21, and Emily, 13, had the deficiency.
“The diagnosis can be challenging, and requires an understanding of age-dependent normal levels as well as a clinical laboratory that utilizes reliable testing methods,” Goldenberg says. “It also needs appropriate expertise in quality assurance of the testing, particularly in children, where blood sampling can be a challenge and cause errors in clotting test results.”
A Multidisciplinary Approach to Medicine
The Thrombosis Program at Johns Hopkins All Children’s Hospital is nationally recognized as one of the top thrombosis programs for physician expertise and published research. The pediatric thrombosis doctors are internationally recognized as leaders in research and management of the pediatric thrombosis patient. The multidisciplinary team is focused on treating infants, children and young adults who have developed a blood clot. The program can also provide a thrombophilia evaluation and anticipatory guidance for those children who may be at risk for developing young-onset blood clots as a result of a family history of blood clots or stroke before the age of 50.
Deep Vein Thrombosis Brings Extra Risk in Surgery
Every year the family does a routine annual physical with their regular pediatrician who found a large curve in Emily’s spine. Their pediatrician immediately recommended the family see Jeffrey Neustadt, M.D., who specializes in pediatric orthopedics and scoliosis treatment at Johns Hopkins All Children’s Hospital. Emily was diagnosed with severe scoliosis. After seven months of monitoring her progress, Emily’s curvature increased significantly, and Neustadt recommended spinal fusion surgery to correct this abnormal curvature.
“There was no way I was going to let Emily have scoliosis surgery knowing she had this blood disorder and not have a hematologist involved. That’s when we came back to Dr. Goldenberg,” Janet says. “It was tough because the blood disorder made everything 10 times as hard.”
“The issue was that scoliosis surgery is very challenging and already has a high risk for bleeding difficulties that can impair proper healing,” Goldenberg says. “A patient with a clotting disorder may require blood thinners to prevent a life-threating clot in the veins, but at the same time make the surgical risk for bleeding potentially life-threatening. An alternative was to give large volumes of plasma transfusion to replenish the protein C level, but this also has potential risks from a fluid balance perspective during and after surgery.”
Goldenberg assured the family that if surgery was needed, Emily was in good hands with Johns Hopkins All Children’s multidisciplinary and collaborative approach to care.
Because the area around the vertebrae is widened during scoliosis surgery, Emily wasn’t able to take blood thinners before or during the surgery to prevent her blood from clotting. Blood thinners could cause the blood to pool between the vertebrae and potentially cause paralysis for the rest of her life.
Goldenberg worked with Neustadt, who performed Emily’s surgery. The physicians also worked closely with Amanda Memken, PharmD, pediatric antithrombotic pharmacist at Johns Hopkins All Children’s Hospital, to find the right drug that would normalize Emily’s protein levels before and during surgery. Timing of the surgery was key in preventing a blood clot. The team decided to give Emily a protein C replacement medication, which contains protein C and would help regulate Emily’s blood and avoid clotting during the surgery.
“We put Emily on a protein C replacement medication the night before the surgery and monitored her levels. For her, it was the perfect solution since it replaces the protein C in the body,” Memken says.
The family was relieved to know that replacement with a protein C concentrate was an option, and also that Goldenberg had a lot of experience in taking care of patients with clotting disorders due to inherited and acquired deficiencies of natural blood thinners.
Pre-Surgery Vacation Leads to Blood Clot
Before Emily’s surgery, the family decided to take a vacation to relax and take their minds off of the surgery ahead. They let Emily choose anywhere she wanted to go. She chose the Cayman Islands.
The family squeezed in every adventure and tour it could, kissing stingrays for seven years of good luck, snorkeling the crystal clear water and hunting for starfish. After riding water scooters, the oldest son, T.J., felt as though he pulled a muscle in his calf.
For days leading up to the trip, T.J. wasn’t feeling well. He rested a lot and then sat still for the two-hour flight to the Cayman Islands. For most people, this wouldn’t be a problem, but with patients who have thrombotic disorders, these conditions can cause a blood clot.
Janet took one look and knew exactly what it was.
“It was raised, hot and red,” she says. “I knew right away it was a blood clot.”
Johns Hopkins All Children’s Hospital Treats Emily and T.J.
T.J. had an appointment with Goldenberg soon after returning from the Cayman Islands. An ultrasound confirmed T.J.’s clot was still there. Goldenberg put him on a blood thinner and monitored the clot for several weeks.
“Knowing that our schedule was very busy, I wasn’t going to leave Emily during or after her surgery,” Janet says. “And the Johns Hopkins All Children’s team was great to get T.J. scheduled for check-ups during the same time Emily was having her surgery.”
Goldenberg brought Emily in the night before her surgery to give her the protein C replacement medication and monitor her protein C levels. Once her levels were the same as someone who doesn’t have Protein C Deficiency, Neustadt performed the surgery. After the surgery, Emily was advised to be up and moving as soon as possible to avoid blood clotting.
With a great care team on their side and a multidisciplinary approach to medicine, Emily and T.J. are both doing well and have regular check-ups at Johns Hopkins All Children’s to monitor their Protein C Deficiency.
After undergoing definitive diagnostic evaluation and by receiving expert multidisciplinary care, this family with a history of young-onset deep vein thrombosis in several members—which was caused by a complex inherited clotting disorder—became empowered by an understanding of the preventive measures that would allow them to lead healthy, active lives. In addition, they were relieved to have found a medical home for their thrombosis care at Johns Hopkins All Children's Hospital.
“We want to make sure that the people who may have a family history and don’t know if they have a thrombotic disorder get tested,” Janet says. “So many people have blood clotting disorders and don’t know it. We just want to do anything we can to make others aware of this. More people knowing about blood clotting disorders and about symptoms of deep vein thrombosis could potentially save lives.”