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For hemophiliacs who received factor before 1990, there was a high risk from exposure to tainted blood products. The majority of O’Leary’s patients—57 percent—are hepatitis C-positive, and another 21 percent are HIV-positive.

Horyza, who is hepatitis C-positive, believes that limiting his factor infusions to times when he was at risk of a bleed from increased activity, instead of preventively every two days as some patients choose, helped keep him HIV-free. Since 1990, when the AIDS virus was identified, factor has become far safer.

Cost of care

Most people with hemophilia rely on clinics like O’Leary’s as their primary care provider. About 150 federally funded centers are in operation nationwide, with 13 in California. One of O’Leary’s administrative tasks is to help patients pay for treatment. Clotting factor products—derived from human plasma or recombinant genes—are among the most costly treatments in the world, often exceeding $100,000 a year, according to the National Hemophilia Foundation. Most patients and their families rely on a combination of private health insurance and state subsidies to cover the cost of treatment.

Patients visit anywhere from once a month to once a year for annual checkups. For patients who live far from a designated clinic, outreach programs are available. O’Leary travels to Fresno every month and is frequently on the phone coordinating care long-distance.

“I’ve got one guy who’s in the ER all the time in Fresno. He’s got factor with him, and the ER staff calls here asking what to do,” O’Leary said. “A lot of times, my patients know more about what’s happening to them than the practitioners.”

Horyza concurred, saying that he’s “very particular when [practitioners] draw blood. I bring my own tourniquet and my own butterfly needle. If someone blows my vein or bruises it, I can’t access that vein, in some cases, for a year,” he added, pointing to several veins in his right arm that he no longer can stick.

Horyza is one of an increasing number of hemophilia patients who enjoy a full life, in relatively good health. Hemophilia treatment has come a long way since the days when such patients were called “sufferers,” and their life expectancy was less than 30 years, according to the National Hemophilia Foundation.

“There’s a lot more we can do now,” said Jim Riddel, MS, CPNP, RN, a pediatric nurse practitioner in the hematology department at Children’s Hospital and Research Center at Oakland (Calif.). “We start earlier, preventing more common disabilities like joint disease. With the availability of factor products that are free of HIV and hepatitis viruses, it’s much safer now to do that.”

Nevertheless, a hemophilia diagnosis—often the first indicator is prolonged bleeding during and after circumcision—can be devastating to parents, particularly if there has been no family history of the disease.

Although hemophilia is considered a hereditary disorder, one-third of all cases occur when there is no family history of the disease, resulting instead from a spontaneous mutation. The majority of hemophiliacs are men. Hemophilia A—a deficiency in clotting factor VIII—accounts for about 80 percent of all cases, and is caused by an inherited sex-linked recessive trait with the defective gene on the X chromosome. Women are carriers of the gene, but rarely exhibit symptoms.

Riddel, who has worked with hemophilia patients for about six years, told of one mother who was shocked when she learned her son had the disease.

“There was no family history,” he recalled. “She didn’t even know what it meant. I’m impressed at how far she has come in the last two to three years. Now, she works with teachers so they are relaxed having her son in school. She and her husband both infuse him at home every other day. It’s part of their life now.”