I recently came across a post from a young man named Jozef from Wisconsin. He grew up with a bleeding disorder known as Factor VII deficiency or Alexander’s disease. Factor VII is a protein that is essential for one’s blood to clot. The condition is so rare that only two or three people out of every million have it.
As a child, Jozef had swollen adenoids that interfered with his breathing and caused sleep apnea. He said he was in a “zombified” state for years due to sleep deprivation, because no surgeon would operate on him for fear he might bleed to death during surgery. It wasn’t until he was a teenager – years after the Food and Drug Administration approved a factor product to treat him – that he found a surgeon to remove his adenoids. Finally, a good night of sleep.
These kinds of trials and tribulations are all too familiar for Americans living with bleeding orders. Thanks to patient advocates like Jozef, we have made strides since 1987, when President Reagan designated March as Hemophilia Awareness Month (since renamed Bleeding Disorder Awareness Month). The science has advanced steadily over the years, and so has society’s understanding and compassion.
In the early 1970s, patients with hemophilia injected themselves with concentrates made from the plasma of blood donors. This gave them independence and the ability to receive vital surgeries when necessary. But then came the AIDS epidemic. Blood borne hepatitis C and HIV from contaminated blood factor products infected at least half of those with hemophilia. Ninety percent of those living with severe hemophilia developed AIDS and thousands died, according to the National Hemophilia Foundation.
Ryan White – a 13-year-old middle schooler from Kokomo, Ind. – contracted HIV/AIDS through a contaminated blood transfusion to treat his hemophilia. He was discriminated against and expelled from his middle school. The parents of many of his schoolmates erroneously believed he could infect other children through casual contact, so the school superintendent forced him to monitor his classes by telephone from home. After winning a lengthy court battle, Ryan was able to return to school, only to be shunned and taunted. Vandals broke windows at his home.
Ryan became a national figure, and Americans rallied to his side. He worked tirelessly as an advocate before his death to end the ignorance surrounding HIV transmission. He died in 1990, just one month before his high school graduation and three months before seeing the landmark legislation bearing his name passed into law. The Ryan White CARE Act provides grants that fund treatment and support services for low-income HIV/AIDS patients. It is the largest federally funded program in the United States for people living with HIV/AIDS. As a member of Congress, I was proud to be the primary sponsor of the 1996 reauthorization of the act.
To this day, I think about Ryan and the impact he made. His legacy has not only changed the conversation and stigma surrounding HIV/AIDS, but it has also brought bleeding disorders into the mainstream.
Bleeding disorders affect approximately 3 million Americans who have hemophilia, von Willebrand disease and other disorders called rare factor deficiencies, according to the Centers for Disease Control (CDC). In normal blood clotting, platelets and proteins work together to clot a blood vessel. These factors interact with other chemicals to form a substance that stops the bleeding. Problems occur when certain factors are low or missing.
Hemophilia A, also called factor VIII deficiency, is the bleeding disorder Ryan White had. It’s the most common inherited bleeding disorder. The CDC reports that 20,000 Americans are living with it. Any cut or injury can put a person at risk of excessive bleeding. In Ryan’s case, he was diagnosed when he was 3 days old.
People with hemophilia A often bleed longer than others. They suffer from internal bleeding that can damage joints, tissue and organs over time. How frequently a person bleeds and the severity depends on how much Factor VIII is in the plasma, according to the National Hemophilia Foundation.
Von Willebrand disease is more common than hemophilia and affects roughly 1.4 million people. Like hemophilia, most cases are inherited. The American Society of Hematology categorizes it into three different types based on severity. With an early diagnosis, people can live healthy, active lives.
Biotechnology has provided for continued medical advances in the treatment of von Willebrand disease, hemophilia and other bleeding disorders. We’ve seen improved factor replacement therapies, more accurate diagnostic methods and a greater understanding of the genetic basis of bleeding disorders
Factor replacement products are much safer today thanks to stricter screening methods, and synthetic factor products are now manufactured using genetically engineered or recombinant technologies.
In 1995, prophylaxis – a preventative treatment regime performed in children two to three times a week – became more common. Research shows most of these children are living with less pain and without the damage associated with chronic bleeding. For patients who formed inhibitors or antibodies to these products, a bypassing agent was developed in 1997 as an alternative product to help stop the bleeding and joint damage. In the early 2000s recombinant products were introduced that lacked human or animal plasma derivatives. These products promised to lower infusions from 2 to 3 times a week to once.
Now researchers are conducting experiments to develop a gene therapy that holds the promise to one day cure bleeding disorders. Scientists are trying to insert factor VIII and IX genes into the cells of persons with hemophilia to help their blood clot more effectively. They hope gene therapy will lead to patients producing their own clotting factor, alleviating the need for infusions. Gene therapy trials have been performed in humans with mixed results, but the biopharmaceutical industry’s journey to improve treatment will continue until we break through and one day find a cure.
This month we pay tribute to the late Ryan White for opening our eyes and to advocates like Jozef for carrying on Ryan’s proud legacy of courageous leadership on behalf of every man, woman and child living with a bleeding disorder.
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