When you have a toddler with this blood disease, even a minor bump can mean a trip to the hospital. But these twin sisters are determined to make sure their kids lead normal lives.
"Boo-boo time?" 2 1/2-year-old Brien Krug asks as he trails his mother, Kathy, around their Fairfax, Virginia, kitchen. He sits on a chair facing the small TV in the kitchen, clutching his favorite video, waiting until the special time every other day when he's allowed to watch it. His routine, however, would send most kids running for the door. While Brien's eyes are glued to the screen, a visiting nurse ties a rubber tourniquet around the boy's arm, pokes around for a vein, and inserts an intravenous needle. Brien sits still for the 15-minute infusion, and when it's over, his mom gives him a lollipop as a reward.
Brien has hemophilia, an inherited bleeding disorder that affects one in 5,000 newborn males (girls almost never get it). Because his body doesn't make enough of a key component of blood that's necessary for clotting, he'll need to have infusions of this missing clotting factor for the rest of his life. Although most people assume that the biggest danger for a hemophiliac is getting a cut, internal bleeding actually poses an even greater risk. That's why Brien needs to go to the emergency room when he bumps his head, and why Kathy and Brien never travel more than an hour away from home without bringing a small cooler containing the precious clotting factor.
It's a difficult disease to deal with, but Brien and Kathy are lucky in one way: Neither one of them has to face the illness alone. Kathy's identical twin sister, Eileen Prophett, lives just a few miles up the road. And her 2-year-old son, Jack, has hemophilia too.
A Double Diagnosis
When Kathy and Eileen discovered they were both pregnant, they were thrilled by the idea of having their children grow up together. Eileen and her husband, Chris, had just moved back to Fairfax from Philadelphia. Kathy and her husband, Cliff, already had a healthy 3-year-old son, Danny.
The day after Brien was born, he was circumcised. But when the nurse brought him back to Kathy and peeled off the bandage to show her how to change the dressing, there was blood everywhere. The medical staff immediately strapped Brien to a board and tried to stop the bleeding.
Several days later, Kathy found a huge purple bruise on Brien's back. He had more tests, but it wasn't until nearly a week later -- after a pediatric urologist put stitches in Brien's still-bleeding penis -- that the Krugs finally received the diagnosis of hemophilia. Kathy and Cliff were in shock. Even though it's a genetic disease, no one else in either of their families had it.
Eileen, who was still carrying her baby, was scared too. She learned that the gene for hemophilia is always passed down from the mother -- and since Kathy carried the gene, so did she. If her unborn baby was a boy, there was a 50 percent chance that he'd inherit the disease. When Jack was born six months later, Eileen and Chris were too nervous to have him circumcised in the hospital. But when they brought him home, she noticed that the heel prick where he'd had a blood test was still bleeding. She called Kathy, hysterical. Her sister rushed over and wrapped his heel to stop the bleeding. Then Eileen called her doctor, who advised them to have Jack tested. By the time the results came back, Eileen and Chris were prepared for the bad news.
The two moms set out to learn everything they could about the disease. "At first, I treated Jack as if he were made of eggshells because he bruised so easily," Eileen recalls. It turned out that both boys have the most severe form of hemophilia -- their bodies make less than 1 percent of the normal amount of clotting factor. This also makes them prone to internal bleeding, particularly inside their joints, which can be caused by something as seemingly harmless as sleeping in the wrong position. When Jack started crawling, he had several bad bleeds in his knees and elbows, which became swollen and painful. Both boys started wearing protective knee pads all the time, and the families kept plenty of pillows on the floor to cushion falls.
In fact, joint problems are often the most devastating symptom of the disease. A hemophiliac's joints produce a special enzyme that stops the internal bleeding, but it also destroys cartilage. Over time, this can lead to arthritis, permanent deformities, and even paralysis. Many severe hemophiliacs must have their joints replaced and wind up using walkers or wheelchairs before age 40.
The prognosis sounds awful, but Eileen and Kathy are incredibly grateful that their sons weren't born 20 years ago. For decades, blood transfusions -- whole blood and, later, clotting factors specifically -- were the standard treatment for internal bleeding. But when the AIDS epidemic struck in the 1980s, the nation's blood supply became contaminated, and more than half of the 16,000 hemophiliacs in this country contracted the disease.
Fortunately, thanks to new screening and purification methods, the blood supply is no longer dangerous. And today, most hemophiliacs receive genetically engineered clotting factor produced not by humans but by hamsters. Since they turned 2, Brien and Jack have also been able to take advantage of one of the most significant advances in hemophilia treatment in more than 50 years: prophylaxis. Instead of waiting until they're injured to receive clotting factor, they get an infusion of it every other day.
Even though they hated the needles at first, the boys are very brave. "We try to treat the infusions as part of our regular routine, just like brushing teeth," Eileen says. Most children eventually have a permanent port surgically implanted into their chest; the factor is infused through it so the kids don't have to be stuck with needles.
The Active Life
In the past, parents tended to shelter children with hemophilia. But thanks to their preventive treatments, Brien and Jack can run around and play ball in the backyard just like other children their age. Both sets of parents are athletic and plan to let their sons try just about any sport except football. Brien and Jack love going to preschool two mornings a week, where they climb on the playground equipment during outside time and haven't had any accidents. "When Jack was younger, I always used to fear the worst," Eileen recalls. "But I've learned that my son is a lot more resilient than I think."
When both couples decided to get pregnant again, they wanted to reduce the risk of having a child with hemophilia. They used an experimental assisted-reproduction technique that separates Y-chromosome sperm ("boy" sperm) from X-chromosome sperm ("girl" sperm). After being artificially inseminated with the X-chromosome sperm, Kathy became pregnant on her first try, and her daughter, Abigail, was born last July. Eileen hasn't gotten pregnant yet but says that she'd want to have another child even without the sperm-sorting technique, because she and Chris would prefer that Jack not be an only child.
In the meantime, the boys are as close as any cousins could possibly be. On a typical afternoon, the sisters are interrupted by the classic cry of toddlers everywhere: "Mine!" "No, mine!" Then Jack begins crying -- he's banged his finger on the table -- and runs over to his mother. "Oh, did you get a boo-boo?" Eileen croons. Sometimes the best remedy -- even for a kid with hemophilia -- is a kiss.
Learn More About Hemophilia:
Contact the National Hemophilia Foundation at www.hemophilia.org or by calling 800-424-2634.
Copyright© 2004. Reprinted with permission from the June 2004 issue of Parents magazine.