Living With Hemophilia A
At first glance Beau Atkinson seems like any other happy, 13-year-old. He’s into video games and plays the cymbals in the marching band. His day starts like most kids’–his parents wake him up, he changes clothes and gets ready for school–with one exception. “I go downstairs, I do my factor, I eat breakfast and I walk to school,” Beau says.
The factor Beau mentions is his medicine for hemophilia A, a rare genetic bleeding disorder most often passed from mother to son on the X chromosome.1 Like others with the disorder, he has too little of a protein called Factor VIII, which is involved in the body’s blood clotting process. Due to this missing protein, his blood doesn’t clot properly on its own. He can bruise easily and bleed internally, either spontaneously or from a minor injury like a fall in gym class. If not properly managed, those bleeds can put Beau at serious health risk.
To treat his disorder and prevent bleeding, most days Beau gets an infusion of replacement Factor VIII medicine to help his blood clot. His mom Kari lays out the medicine on a clean gauze pad, mixes it up, and puts out the syringes so Beau can inject himself.
Beau says most people don’t understand what hemophilia is: “I don’t bleed faster, I just bleed longer.” People with hemophilia don’t “gush” blood from, say, a paper cut.
Nor do they understand how painful it is. “A muscle bleed feels like you take barbed wire and you wrap it around your muscle and every time you move, it gets tighter and tighter,” Beau explains. When he’s experiencing a bleed, to get his mind off the pain, Beau likes to play video games alone in his room.
Beau was a baby when Kari found a two-inch, rock-hard bruise under his arm and some "pea-sized bruising" on his head. He was barely six months old when he was diagnosed with hemophilia A. Kari remembers having to take Beau to the Emergency Room in the early days when he had a bleed. On one particular visit, she cried all the way to the hospital and back. “I think they stuck him (with a needle) 12 times to find a vein,” she says. “That’s a lot to watch happen to your child, let alone to be the one holding him down.”
What was incredibly difficult for Kari early on was the realization that for the rest of Beau’s life she and her husband Craig, and then eventually Beau himself, would have to administer his medicine. The standard of care treatment for hemophilia A is regular intravenous injections (injected inside a vein) of Factor VIII replacement therapy two or three times per week.2
Things were going okay until Beau was about 18 months old and developed an added complication—"inhibitors." These are antibodies that block the Factor VIII replacement medicine making his hemophilia more severe. About 20-30 percent of people with severe hemophilia A are affected by inhibitors at some point during their lives.3 As Beau’s older sister Jordyn, now 19, explains, “My brother’s body thinks the medicine is foreign and tries to fight it.” This makes Beau's Factor VIII replacement medicine less effective, and some days, not effective at all.
Over the years, as Beau’s inhibitor levels fluctuated and at times lessened the effectiveness of his replacement therapy, doctors tried other treatment approaches, sometimes requiring multiple infusions a day. Today, Beau has found a treatment that is working quite well, infusing himself usually every other day, though the family knows that this could change rapidly.
“It’s very unpredictable with him having inhibitors,” says Kari. Beau can go from seeming fine to suffering from severe bleeds very quickly. “We have to be on high alert because a matter of minutes is the difference between crutches and a wheelchair.”
Once, when Beau was 10 years old, he was in such pain that when his father picked him up from school, Craig had to carry him to his truck. Beau ended up in the hospital for four days with muscle bleeds in both calves. For six weeks he couldn’t walk, and though he was given a wheelchair, their home wasn’t accessible.
“We had to carry him everywhere, up and down the steps to the bathroom, almost cradled like a baby,” Kari explains. “That spurred us to start remodeling our home [in case this happens again]; the wheelchair couldn’t even fit through the door to the kitchen.”
The family has become accustomed to making nimble adjustments for Beau’s condition. “Plans can change in the blink of the eye,” Jordyn explains. There was the time that Kari had to miss doing Jordyn’s hair and make-up and seeing her off for the sophomore homecoming dance. Another time, the family had to split up on Thanksgiving, with Jordyn and Craig going to Grandma’s while Kari stayed with Beau after a painful bleed. When Beau was in a wheelchair, it was Jordyn who lifted him into the car and drove him to school by 8:00 a.m. every day. Even now, on days when it is too painful for Beau to walk the five blocks to school, she is there to give him a ride so he gets to class on time.
Friends, too, have pitched in to help make Beau’s life easier. One, Dustin, has carried his books and eaten lunch with him in the school’s office when Beau’s wheelchair kept him from eating at the cafeteria tables.
“As the saying goes, it takes a village to raise a child, and for a child with hemophilia A, and now inhibitors, it takes an extra large village,” says Kari, who is now president of the Hemophilia of Iowa chapter, a member of both the Hemophilia Federation of America and National Hemophilia Foundation. “I don’t know how we’d have gotten through this without all the support from school, our friends and family and from the larger hemophilia community.”
Jordyn, who knows she could possibly carry the hemophilia gene and pass the disorder to her own child one day, says she’ll still choose to have children. “It doesn’t bother me because I have seen how my brother does it," she says. "If Beau can be a trooper, I can too.”
You can read a Q&A with Kimberly Haugstad, executive director of the Hemophilia Federation of America, and Val Bias, chief executive officer of the National Hemophilia Foundation here.
1 CDC. Hemophilia Facts. http://www.cdc.gov/ncbddd/hemophilia/facts.html. August 2014. Accessed July 7, 2016.
2 Porada C, et al. Hemophilia A: an ideal disease to correct in utero. Front Pharmacol. 2014; 5:276.
3 NIH. How is Hemophilia Treated? http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/treatment. Accessed July 8, 2016.