I discovered that I was heterozygous for the factor V Leiden mutation in June of 2000 after my mother tested positive during a workup for superficial thrombophlebitis. My primary care physician recommended that I be tested, since I was taking oral contraceptive pills. She also had a friend who had been recently diagnosed with factor V Leiden following a stroke at age 35.
“I remember my primary care physician calling me at home on a Saturday afternoon with the results. When she said I was heterozygous for factor V Leiden, my heart sank. I remember thinking “what does this mean?”, “will I get a blood clot?”, “do I HAVE to stop taking the pill?”, “am I going to have pregnancy complications now?” I had a number of questions*most of which could not be answered by my doctor.
Ironically, the day I received my test results was also the day of the opening orientation for my graduate program in genetic counseling which I was scheduled to begin in the fall at the University of Cincinnati. That night, as I mingled with my future classmates, I told some of them about my “genetic testing” experience and how odd it was to be “receiver” of this news. I had been surprised at my own reactions how much it had affected me, my mother, and now all of my other family members who were questioning if they should be tested.
As I began my graduate studies, these thoughts lingered with me. I dealt with them by trying to learn as much as possible. Fortunately, being immersed in a medical environment, I had medical journals and clinical resources at my disposal. Being new to the medical profession however, many of the words were foreign to me. I had to sift through it all, from the beginning, just like any patient trying to become literate on his or her condition.
Luckily, I found the factor V Leiden support webpage, which provided a wealth of information. Unfortunately, I also found that many people were frustrated, turning to this page to get answers that they could not find from medical professionals. Was this experience typical? To find out, I decided to undertake my first research investigation, examining the knowledge, health perceptions and informational needs of individuals with factor V Leiden. I surveyed 156 people with factor V Leiden, and found that many of them ARE frustrated with the lack of available information about factor V Leiden, and blood clotting, that is available. Even worse, they are frustrated by what their doctors don’t seem to know!
For these reasons, I have made it a personal mission to increase awareness about factor V Leiden and other genetic thrombophilias. I am hoping to educate my colleagues in the genetic counseling arena as well as other specialists about the unique needs of this population. I am working on developing educational tools and have recently completed a brochure on the genetics of thrombophilia. I also hope to conduct more research focusing on patient education needs, especially those of pregnant women and children.
