In 1984, amidst excitement and fear, Lori Kunkel entered Methodist Hospital to deliver her first child—a boy named Jeff. Upon arrival, the infant appeared normal. Medical staff pricked his heel to perform routine blood tests. The next morning, Jeff’s heel kept bleeding, and his head had swollen beyond what was considered normal for a forceps delivery. Doctors emergently transferred him to the neonatal intensive care unit at St. Marys Hospital for further testing. Lori was stunned by the diagnosis; her beautiful son had hemophilia, a rare genetic condition that impedes blood clotting.
Thus began Lori’s journey as an advocate for people with bleeding disorders. Today she is a common factors speaker for CSL Behring pharmaceuticals and has three grown sons: Jeff, Cody and Brady. They are three of 20,000 Americans living with hemophilia.
The Missing Factor
Jeff Kunkel is happily married and works in telecommunication sales. His brother Cody is a nursing student and part-time butcher. They shake their heads at the most common misconception they encounter when explaining hemophilia to people: “So if you cut your finger you’ll bleed to death?”
“No!” the brothers insist. “We bleed longer, not faster. Otherwise, we’re just like anyone else. No need to treat us with kid gloves.”
Imagine you fall and gash your knee. Platelets and clotting factors in your blood are activated in a cascade like falling dominos. The normal result is a hefty clot that stops the bleeding within minutes. A person with hemophilia has trouble forming a stable clot.
“Hemophilia results from a genetic mutation in the ‘blueprint’ for making certain clotting factors,” explains Aubrey Manahan, a nurse at Mayo Clinic Comprehensive Hemophilia Center. “People with hemophilia A, the most common type, lack functional Factor VIII; those with hemophilia B lack Factor IX. Regardless of the factor, the coagulation cascade is interrupted; the result is poor clot formation and extended bleeding times.”
The culprit is a recessive gene carried on the X chromosome. Affected females are carriers who can be symptomatic or asymptomatic; affected males will have mild, moderate or severe hemophilia based upon the degree of their factor deficiency. Yet, 30 percent of cases come from mothers with no family history of the disorder (like Lori). This is the result of a spontaneous gene mutation. But even a tiny mutation can have serious consequences.
Blunt trauma can cause life-threatening internal bleeding for anyone. The condition that hemophiliacs face more commonly, however, is spontaneous hemorrhaging into the joints, muscles or tissues. Joint bleeds cause lots of inflammation, pain and cartilage damage; frequent bleeds can result in crippling arthritis.
Cody recently endured a spontaneous bleed. “I felt tension, pressure and heat in my wrist, like a weight was taped to the joint,” he says. Jeff describes bleeds as “suddenly being very aware of a certain part of your body, in an uncomfortable way.”
The key to successfully treating a bleed is early intervention; the missing clotting factor must be infused into the bloodstream. Prior to the 1990s, hemophiliacs received transfusions of blood or plasma that placed them at increased risk for exposure to hepatitis C or HIV. Modern treatment involves in-home intravenous infusions of synthesized factor concentrates. These infusions are safe and effective, though short-lived and expensive.
Jeff, Cody and Brady use Factor VIII concentrate. “Growing up, Mom insisted that we assume many aspects of our medical care,” Jeff says. “I was infusing myself with factor from the time I was 6. Thanks to my mother, I can hit a vein in my sleep.”
Boys Will Be Boys
Lori and her husband raised their sons with the mantra, “You have hemophilia, but hemophilia does not define you.” Each year she sent the boys up north to the summer camp sponsored by the Hemophilia Foundation of Minnesota and the Dakotas. “Archery and boating were a blast,” says Jeff, “but the best part was the camaraderie with kids who shared the same condition and experiences that we did.”
Although Lori encouraged her sons to lead active lives, she drew the line at contact sports. The strapping boys begged to play football and hockey, but no doctor would agree. So Jeff channeled his energy into four-wheeling and stock car racing. “Probably not the safest hobbies,” he chuckles, “but I refused to let hemophilia rob me of opportunities.” Currently Jeff manages his hemophilia with one or two infusions per month. He admits to three highway accidents in which factor concentrate has saved his life.
Cody loves riding his CBR600 motorcycle but tries to approach life with a risk-management mentality. “If I plan to run a 5K with my girlfriend, or visit friends out of town, I’ll infuse factor before going,” he says. “It takes 15 minutes, and I get two days of protection.”
Lori trusts her sons’ judgment, saying, “It goes to show that when people with bleeding disorders have access to proper training and treatments, they can lead active and healthy lives.”
C.G.Worrell is a freelance writer and part-time veterinarian at Heritage Pet Hospital.