Infusing Hope: Living with Hemophilia

IT WAS A DAY of celebration. Just one week old, Daniel Kraus was undergoing the traditional circumcision characteristic of his family’s Jewish faith. As congratulatory shouts of “mazel tov!” filled the air, another sound gradually competed for attention as doctors and nurses whispered in concerned tones about a routine procedure gone suddenly wrong. As the minutes ticked on, the bleeding from Daniel’s circumcision showed no sign of letting up. “At eight days old, I lost half of my blood and had to have a massive blood transfusion. It took three days to come back with my diagnosis of hemophilia A,” says Daniel. “This is in Melbourne, Australia, 1981. There’s no family history. We have no patient support groups and no Internet. My parents had to educate themselves about a disease they had never heard of, and fortunately for me, they learned quickly.”

Hemophilia A, also known as factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by a missing or defective FVIII clotting protein. Typically passed from parents to children, about one-third of cases, like Daniel’s, are caused by a spontaneous gene mutation. According to the Centers for Disease Control and Prevention, hemophilia occurs in approximately one in 5,000 live births.

An Evolving Treatment Plan

Growing up as the middle of three siblings, Daniel says his parents tried to make sure he had as normal of an upbringing as possible. In the early days of his treatment, any injury resulting in a bleed had to be handled in the local emergency room. He recalls long hours spent waiting for an ER doctor to confirm his need for blood, followed by more waiting for blood-derived FVIII to arrive from a local blood bank so that he could get his needed infusion. At some point during his years of treatment, young Daniel contracted hepatitis C from the tainted blood supply that was in wide circulation during the mid-1980s. He considers himself fortunate; a majority of patients exposed to the same bad blood batch contracted HIV/AIDS and died.

Over the years, Daniel’s treatment plan evolved as new options became available. In early adolescence, he began prophylaxis with regularly scheduled infusions of clotting factor concentrates to prevent dangerous spontaneous bleeding. By 14, Daniel was doing his own infusions, a move he says revolutionized his life. “I was finally managing my own care, and it allowed me to attend camp, youth group and other activities,” he explains. “The biggest lifestyle change for me occurred in my early 20s, when recombinant treatments became available. The fact that they came in small vials that did not require refrigeration was a game-changer.”

Recombinant activated FVIII was first licensed for use in hemophilia in 1997. The process for making these factors involves inserting a small piece of human DNA into a cell from another animal, and growing these cells in large numbers. Over time, the manufacturing process for recombinant factors has evolved to require no human or animal-derived proteins, and in clinical trials, they have been shown to be as effective as the plasma-derived versions.

Answering the Call to Advocacy

Eleven years ago, Daniel left his life down under and moved to New York to pursue the two major loves of his life: Rachael, the woman who would become his wife, and a call to rabbinical studies. Today, Daniel is a busy ordained rabbi, husband, father of three, and a patient advocate, donating many hours a month in his role as board member of the New York Hemophilia Chapter. Although he carries signs of the bleeds he suffered as a child in the form of chronic joint pain and arthritis in his left ankle, at 33, Daniel Krause is passionate about helping others overcome the stigma of chronic illness. “My dad was my inspiration because he did a tremendous amount of work for the hemophilia foundation both on a state and national level when I was growing up,” Daniel says. “He modeled for me what it meant to give back.”

Daniel has traveled around the country as a speaker for Baxter International, a manufacturer of clotting factor products, sharing his experience as a lifelong patient. But he adamantly rejects the title “hemophiliac.” “I tell people: ‘Your illness is something that can either prevent you from doing things in life, or it can motivate you to do more. Hemophilia is just a piece of who you are, but it doesn’t define you,’” he explains. “I’m not a hemophiliac; I’m Daniel, and I have hemophilia.”

Hemophilia Treatment Through the Years

Early 1900s

• With no method available to store blood, people with hemophilia typically received fresh whole blood transfusions from family members. Life expectancy was 13 years old.¹

1930s-1940s

• With improved treatment, people living with hemophilia now have a median life expectancy of 27 years. Treatment is still limited to whole blood transfusions and icing joints.²
• The National Hemophilia Foundation was founded in 1948.

1950s-Early 1960s

• The World Federation of Hemophilia was established in 1963.
• Fresh frozen plasma (FFP) was the mainstay of treatment for hemophilia A and hemophilia B during this decade.
• FFP contained only miniscule amounts of factor VIII (FVIII) and factor IX (FIX), thus large volumes of intravenously administered FFP were needed to stop bleeding episodes.
• Cryoprecipitate was developed in 1964 by Dr. Judith Graham Poo, and treatment evolved to include intravenous administration of FVIII in smaller volumes allowing for outpatient treatment for bleeds and even elective surgery in persons with hemophilia A.³

Late 1960s-Early 1970s

• Scientists and manufacturers develop methods for separating FVIII and FIX from pooled plasma, resulting in neatly packaged bottles of freeze-dried (lyophilized) FVIII or FIX concentrates, allowing more accurate dosing.
• By the early 1970s, the availability of these concentrates led to home treatment, greatly improving quality of life for people with hemophilia.

1980s-1990s

• After thousands of plasma donations were combined as starting material for one batch of plasma-derived FVIII or FIX concentrate, they were found to be tainted by deadly bloodborne viruses, including hepatitis C and HIV. Many patients infected with HIV later died, raising great concern about the safety of plasma-derived products for years to come.
• The successful cloning of the FVIII gene in 1984 was a major breakthrough, allowing production of recombinant human FVIII. Clinical trials in humans began three years later.
• By 1985, a blood test for HIV antibodies was instituted in blood and plasma collection facilities.
• In 1989, the hepatitis C virus (HCV) was isolated, allowing HCV antibody testing of donors to begin in 1990.
• By 1992, two pharmaceutical companies had licensed FVIII products for use in hemophilia A.

2000s

• In 2007, Dr. Marilyn Manco-Johnson, MD, et al., published in The New England Journal of Medicine a multi-year study showing a prophylactic treatment prevents joint damage in pediatric patients with hemophilia.
• By the mid-late 2000s, increased attention was being paid to women with bleeding disorders, as well as the development and prevention of inhibitors in hemophilia.4 Today, the market is seeing an influx of new hemophilia drugs. Some, with slightly longer periods needed between treatments, have already arrived. Other, even longer-lasting clotting factors are also on their way.