Making Ben’s blood better
A young boy with a particularly complicated and severe case of hemophilia seemed destined for a life of discomfort. Then something changed.
By WP BrandStudio
Lying in the maternity ward at Lucile Packard Children’s Hospital Stanford, Damaris knew it was possible her newborn son, Ben, would be diagnosed with hemophilia. The disease, a rare genetic disorder in which the blood’s failure to clot normally causes frequent bleeding, had long afflicted her family. Her first child, a daughter born four years prior, did not have the disease, so she had hope. It wasn’t long, however, before the family found out that Ben wasn’t as lucky. One day after he was born, Ben was diagnosed with hemophilia A, the most prevalent form of the disease. “It was devastating,” Damaris said.
In those first days, the hematology team at Stanford Children’s Health explained to Damaris what would be involved in caring for Ben going forward. Emphasizing that it wasn’t going to be easy, they laid out a treatment plan to manage the disease. What they didn’t know then was that Ben’s case would present unexpected complications, requiring the Stanford team’s extensive efforts and expertise–plus a groundbreaking new treatment–to turn the boy’s life around for the better.
Unforeseen hurdles
For most people, minor bleeding is a harmless occurrence. After an injury, clotting factor proteins come together to contain and stop the bleeding. Yet for patients with hemophilia A, a disorder that occurs in one out of every 5,000 births, the coagulation process doesn’t happen, or else happens far more slowly than it should. The complications can be significant. Roughhousing and contact sports can be life-threatening. Internal bleeding in joints and muscles sometimes requires hospitalization and surgery.
During Ben’s first year, his family didn’t have to worry much about these challenges. As an infant, he just didn’t move around enough to put himself at risk. But around his first birthday, as the potential for injuries increased, his doctors suggested a preventative care regimen. They told Damaris that Ben would need a portable catheter to receive regular infusions of what’s known as “factor VIII,” the clot-forming protein his own blood lacked. The “port,” as it’s called, would be surgically inserted below the skin on his chest to connect to a major blood vessel.
“That was our plan,” said Judith Lea, a hematology nurse practitioner at Stanford Children’s, “but just prior to beginning, we discovered that he actually had an inhibitor to factor VIII.” The inhibitor present in Ben’s immune system meant his body would actually destroy the protein he was being injected with, preventing the standard hemophilia treatment from working.
“Severe hemophilia is classified as having less than one percent of the clotting protein, and Ben falls into that category,” said Clara Lo, MD, a pediatric hematologist at Stanford Children’s. “And in addition to having severe hemophilia, his case is complicated by having this inhibitor against the factor.” Ben had the port surgery as planned, but had to be given a different protein that didn’t last as long in the bloodstream as factor VIII–making his care even more challenging.
“He started getting a lot of internal bleeding, and his medicine only lasted about three hours,” Damaris said. “We were infusing him through his port day and night. And when his bleeds would start, he’d be in a lot of pain. They’d improve but then re-bleed and get worse, and it was just this difficult cycle.”
The debilitating effects of hemophilia
Throughout his childhood, Ben was in and out of Stanford Children’s as his doctors tried everything they could think of to make his life easier. They tested new medications and even tried to eliminate his factor inhibitor entirely through repeated high doses of factor VIII. Nothing worked.
Meanwhile, year after year, Damaris dutifully injected Ben with his short-lived protein, sometimes multiple times during the day and night. She did her best to give him a normal childhood, but the disease was debilitating. In addition to the pain, there were times when Ben was unable to use his arms because of bleeding in his elbow joints, and sometimes he was bedridden or wheelchair-bound due to lingering leg injuries.
Despite his limitations, Ben was always full of smiles. He loved reading, running and playing, even if he couldn’t use all of his limbs and some movements caused him pain. His favorite times were spent at Camp Hemotion, an annual week-long camp for children with hemophilia and their families. Ben was limited in his activities, even compared to other kids with his condition at camp. Yet still, he looked forward to it every year. “When you meet him, he’s the happiest kid,” said Kerri Lowe, a clinical social worker at Stanford Children’s who has known Ben all his life.
This tenuous care routine lasted nearly a decade. Then, when Ben was nine years old, doctors at Stanford Children’s told Damaris that the FDA had approved a new drug–one that had the potential to dramatically transform her son’s outlook.
Finding the key to freedom
Developed by Chugai Pharmaceutical in Japan, HEMLIBRA®, known generically as emicizumab-kxwh, was a revolutionary hemophilia drug. The medicine mimics the function of factor VIII yet does not get destroyed by the inhibitors present in patients like Ben. Once securely in the bloodstream, it proceeds to combine other potential clotting proteins present in the plasma. “It brings together two other factors called factor IX and factor X,” explained Dr. Lo, “so you don’t need factor VIII anymore for the coagulation cascade to work.” Stanford Children’s is also currently collaborating on a study about the drug’s effectiveness during minor surgeries.
Ben was one of the first kids to receive the new medicine at Stanford Children’s, and the effects were almost immediate. “It’s been a huge change in our lives,” said Damaris. “Instead of daily medicines, infusions that last an hour through his port…now it’s a simple poke once a week in his belly.” Most importantly, his blood is now clotting in a sustainable way.
At last year’s Camp Hemotion, Lowe was stunned to see Ben running and jumping for the first time. “He didn’t have a boot on, didn’t have his arm in a sling. He was just running around having fun, like a normal kid,” she said.
It took almost a decade to get to this point, and Ben has been amazingly resilient throughout. “Hemophilia is kind of like an old friend, or enemy, that punishes you for nothing,” he said. But through his experiences with Stanford Children’s and the camp, he’s found a supportive community. “Knowing that there are other people out there like me–that makes me feel better. Because I know that I’m not the only one.”
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