Hemophilia Symptomatic Carriers…Are You Out there?

I feel like I am on a roller coaster - up and down, up and down.  And did I mention that I don’t like roller coasters?  I get sick trying to do a cartwheel or doing a flip turn in the pool.  But any time I broach the symptomatic carrier topic, it starts all over again.

Does anyone else go through this?  I am a woman.  I am a hemophilia carrier.  I have bleeding issues.  They are not severe, usually, but I still have them.  When I go to the dentist, when I strenuously exercise, when I bump something pretty hard, and when I clumsily fall.  The bruises and bleeds come and I can feel them.  I can’t always see them.  But that isn’t good enough for my Hemophilia Treatment Center.  I guess they want me to look like a severe hemophiliac, swelling like a balloon to acknowledge that I am a woman and I bleed too.  But my son is moderate/mild, and he doesn’t normally swell up like a balloon.  We treat him with Factor IX when he feels a bleed coming on - I don’t have to see it to know that it is painful to him and that it affects his activity.  When he has a bleed we treat it.

So I found a different hematologist, outside of the hemophilia treatment center, to see if he would treat me like a mild hemophiliac…which technically, at 28%, my Factor IX levels should diagnose me as.  And that is what he told me.  He said, “You are a hemophiliac”.  Finally, someone heard me!  So my first question is…why are symptomatic carriers called symptomatic carriers instead of hemophiliacs?  Maybe if that changed we would be treated just like they treat the boys.  My second question is…if my factor levels are under 50%, which is the number they use to diagnose boys, why is my hemophilia treatment center so against giving me that diagnosis so that they can treat me?

Well, here is a snag that I’ve come upon, multiple times.  Each time my Factor IX levels are tested, a different number comes back:  sometimes as high as 78%, and sometimes as low as 28%.  So here is question number three…why does it fluctuate?  According to the nurse at the hemophilia treatment center, my numbers shouldn’t fluctuate – therefore I don’t have hemophilia.  I know, the logic is not there, but she stands by it.

So do you understand now a little bit of the roller coaster I’ve been on?  Not only emotionally up and down with people telling me that I am crazy for thinking that I have bleeding issues sometimes, and then finding out that I REALLY DO have bleeding issues sometimes, and then being told that I shouldn’t have bleeding issues.  What? 

But the roller coaster is also up and down physically with trying to engage in exercise programs and sports to stay healthy, and then having to be sidelined with a joint bleed (that I really am - but not really having).  For years I had to endure these bleeds without access to factor replacement.  And now, well, let’s just say my joints will never be the same.

So let me tell you some of the things I’ve noticed with my fluctuating factor levels.  As a teenager, I really noticed a lot more bleeds.  I started playing soccer at age 10, and had a few ankle “injuries”, but it wasn’t until high school soccer that I really began to notice the constant bruising and knee and ankle “injuries”.  Yes, high school soccer is a little more competitive and that may have contributed to the increase, but to tell me I did not have a problem and was not experiencing the bleeds is just downright rude.  I had to ice in a cold whirlpool sometimes before every practice and home game just so I could play through the pain.  If that is normal for a non-hemophiliac, then why weren’t all of my teammates also going through the same thing?  And that one time in practice after 20 minutes of working on roundhouse kicks – which led to a hip “injury” and two weeks on crutches – must not have been related to hemophilia symptoms either.  Not to mention my wisdom teeth extraction and two weeks of heavy bleeding, or the D&C surgery after a miscarriage and the excessive pain and bleeding for over a month.  I could go on and on.  My favorite is another hip "injury" after training for a half marathon.  I was literally down for three months.  It hurt to sit, stand, lie down, and walk.  Yep, the same exact hip that I “injured” in soccer years ago.  At that point I was fed up with the roller coaster and wanted to demand to get off. 

So besides noticing my bleeding issues increasing as a teenager, I also noticed that my levels seemed to fluctuate depending on my menstrual cycle and what time of the month it was.  And then when I went on birth control, it seemed that my bleeding issues almost went away completely, unless I missed a pill or took it late, and then it would seem like my factor levels dropped drastically for a short period of time.  So my fourth question is…could hormones play a role in Factor IX level fluctuation?  And if so, is it possible to calculate when my levels would be lowest and when they would be highest? 

With my last pregnancy, my new hematologist decided to test my factor levels regularly throughout the pregnancy, and then give me factor replacement therapy after delivery for two weeks after to reduce bleeding and to help me heal.  Sure enough, as my pregnancy progressed, my hormones increased, and my factor levels consistently increased, peaking at 78% right before delivery.  My obstetrician, last minute, decided to give me factor replacement right before my scheduled delivery.  So I received the factor, and eight hours later delivered my third boy.  They drew blood afterward and my levels came back at 28% (with factor still in my system!).  Really?  My factor levels can fluctuate that much within 8 hours – with factor in my system, and no one has thought that maybe we should figure out why?  Are there others out there like me? 

So here are some more questions:  Why is my case so different from any other symptomatic carrier (hemophiliac) woman with a bleeding disorder who’s factor levels don’t fluctuate?  Do they really know that they don’t fluctuate?  Have they tested thousands of symptomatic carriers (hemophiliacs) regularly over an extended period of time to compare data to?  I doubt it – especially because they won’t even diagnose any as having a bleeding disorder.  Why would a symptomatic carrier (hemophiliac) woman come to be treated and get her levels tested regularly if she is just going to be told the whole time that she doesn’t have bleeding issues, and that every bleeding episode in her life must have another explanation rather than hemophilia?  Yep, I’m going to ask it again…really?

I can tell you this, the two weeks of factor replacement after my last delivery made my recovery amazing.  I mean, compared to my other two deliveries:  night vs. day.  I’m not only talking about the amount of bleeding (that was so much less too!), but also the time it took to heal from the episiotomy and to just heal in general.  Wow.  If I knew it could have been like that before, maybe we wouldn’t have waited 10 years before having our last child.

So I’m asking…hemophilia symptomatic carriers – are you out there?  Let’s start talking amongst ourselves and compare stories.  Let’s start trying to figure out what the doctors refuse to.  If we have an idea of what we want to look for, like hormone levels compared to factor levels over a long period of time, then maybe we can go to our doctors and request it.  Or if there are enough of us out there tired of riding on the same roller coaster, maybe a factor company will have a research study done.  More diagnosed hemophiliacs mean more business for them, right?  I want to live in that kind of world, where if I want to be diagnosed and I have the symptoms, than I can.  And not only that, but then I can actually be treated for my symptoms too!  If research studies could be done, then there would be information out there for the doctors to finally realize that their textbook answers will not cut it when it comes to WOMEN HEMOPHILIACS.  The textbooks are wrong.  I say, let’s make history and rewrite the textbooks.  It is about time.

Are you out there?  Talk to your friends and neighbors.  Talk to your treatment centers and factor companies.  If we work together, it will be a lot more effective than just one voice on a blog. 

I’m ready to be heard! 

I’m ready to walk on solid ground!

Will you help me spread the word?

comment below or send to comments@michellebooks.com