Get to Know Hemophilia

The first patients we ever worked with were those with Hemophilia. We go to a lot of wonderful hemophilia events such as the National Hemophilia Foundation annual conference and the Coalition for Hemophilia B Annual Symposium, as well as many regional and local events.
There are a lot of misconceptions about hemophilia. Many people know it is a bleeding disorder – patients have only a small amount of clotting factor in their blood. But the problem is not if they get a cut – they won’t bleed to death from a cut. The bigger problem is internal bleeding. This can cause terrible joint problems, such as swollen and painful knees, ankles, and elbows.
The types of Hemophilia we deal with most often are Hemophilia A and Hemophilia B. Both are genetic diseases. Because the disease is carried on the X chromosome, that comes from the mother, most of the patients are male. But females can also have hemophilia. We had many studies that wouldn’t allow female patients to participate, which understandably made these patients angry. Most study sponsors now realize there are some female patients and allow them to participate. Also, since the disease is carried by females, even those who don’t have the full-blown condition often have many of the symptoms. That has been recognized more recently.
When I first went to the NHF conferences twenty years ago, there were very few middle-aged patients. In a terrible tragedy, almost an entire generation of patients was wiped out. The patients had infused a blood product made with human blood, and when the HIV AIDS epidemic first appeared in the 1980’s, tainted blood made its way into the treatment, and many were lost to AIDS. Fortunately, for the current generation, the treatments don’t have AIDS or other diseases, and they enable patients to live more normal lives. Unlike 20 years ago, I see many fewer patients with disabling joint problems. We know one patient who runs marathons!
There have been great advances in treatments. Most moderate or severe patients infuse factor products to replace the clotting factor. Many do this prophylactically – to prevent a bleed. This used to be done 3 times a week, but some products now allow it to be done less often. Because of the new treatments and many programs offered the patients, we have offered many surveys and other studies for patients and caregivers as the manufacturers need to know what patients think and feel.
One problem that persists for some patients is inhibitors. The patient’s immune system can reject the clotting factor and produce inhibitors to fight it. This can require very high doses of expensive clotting factor, or bypassing agents, to get on track.
Some moms of hemophilia patients have told me that have been accosted in public, such as by store security personnel, because their son has bruises. The bruises are caused by hemophilia, but some well-meaning people think the child may have been abused. These mothers need to carry paperwork to prove that their child has hemophilia.
In the past some health insurance plans had limits on the amount they could spend over a lifetime. Since hemophilia factor product is so expense, these families would reach the million-dollar limit. They would have to change jobs to get a new insurance plan! Now lifetime limits on most benefits are prohibited.
I only know what I have seen and learned. Those of you with hemophilia know what it is really like to live with the condition. Please share your comments!