So today is National Rare Disease Day. That's right. You're welcome. I bet you didn't even know. And who wants to pass up a celebration?? I learned this on the ITP website. For those of you who don't know...Lu has ITP. Which is idiopathic thrombocytopenic purpura. Yeah, say that three times fast. I dare you. This is a rare disease, therefore, today is her day.
I remembered this last night~
Me: Hey. You have to be nice to Lu tomorrow.
Me: Because it's National Rare Disease Day and she has ITP.
Me: And what? It's not enough that your sister has a rare disease and has to see a Hematologist every couple of weeks? It's not enough that she almost bled to death from getting a tattoo?
Sean: I think you might be exaggerating again.
Me: Maybe. But just a little. Anyway, she does have a rare disease and she does have to take icky medicine and spend alot of time at the doctor's office. And be careful about drinking and stuff. So you could at least not make fun of her for one day.
Sean: I'll think about it. No promises.
Me: Do you think I should make her a card?
Sean: That says what? "I'm sorry you have a rare disease. Guess my genes suck?"
Me: Um. No. I was thinking more along the lines of "Congratulations!" and when you open it up it says "You're a Freak!! Enjoy your day!"
*Insert hysterical giggling on our parts*
Sean: I think you should probably not bank on a career with Hallmark.
Me: Maybe I'll skip the card. Do you think I can convince her that cake I baked for desert tonight was actually for her for tomorrow??
Sean: Sure. Who doesn't love to learn that a half eaten cake was actually meant for them?
Me: Huh. Maybe I'll just make her bed for her. Or do her laundry.
Sean: You always do her laundry.
Me: Yeah. Well that settles it...she's getting a hug.
And yes I'm joking. But then what's new? ITP is serious. We have an appointment at Children's in St. Louis next Thursday for a second opinion. Her doctor here wants to take her spleen out. I think removing an organ at eighteen is a little drastic. Especially when the odds are only 50-60% that it will even help the problem. And then there's the chance that even if it does work initially, the problem will return in two years. And you're immuno-compromised forever.
Last year in January, I had the Lumbar Puncture from hell in Springfield and Lu came up to visit me at my parents house and drive me back home (after a week of laying flat on my back and finally a blood patch). One morning while we were there she showed me these funny red dots all over her legs. They looked like tiny red pinpricks. They were odd, but really they weren't bothering her so we pretty much ignored them. In February she decided she wanted a tattoo. I went with her to sign papers and hold her hand. As the tattoo artist was working he remarked that she was bleeding more than was normal. Indeed, the tattoo welled up with blood droplets and he had to keep cleaning it off. He suggested we talk to a doctor. A week later we realized that her tattoo wasn't healing right and she had the red dots on her wrists as well. She was really tired and covered in bruises. Now if it seems like I'm a bad mom and didn't really take this seriously...in my defense I was going through some medical problems myself and dealing with the final diagnosis. Also, Lu had probably been one of the most tired people I know for about the last two years. She'd seen the doctor several times and been told it was probably a virus.
But off to the Internet I went. Then off to the ER we went. I learned on the Internet that the red dots were actually petechiae and they were bad. They meant that her platelets were low and the blood vessels were actually breaking and leaking. The petechiae could turn into pupurae, which are larger and purple as the blood collects beneath the skin. As soon as we got to the ER and explained, the doctor drew blood and we waited for results. Lu, of course, went to sleep. I waited anxiously and berated myself for not taking things more seriously. The results came back. Her platelet count was 14,000. Normal is 150,000 to 300,000. Under 70,000 the risk of bleeding is so great that they won't perform surgeries. Under 10,000 requires a transfusion. Also, her hemoglobin was only 4. Normal is 12 - 16 for women. They didn't do much at the ER except give us an information sheet and set up an appointment with the Hematologist for the very next day. At least I had something to research. She'd had all the symptoms (she was pale, tired all the time, cold all the time, headachey, dizzy, and occasionally weak) for at least a year but unfortunately the doctors hadn't done the bloodwork that would have given us an answer. It still amazes me that it took so long to realize this is what was going on, but Lu had been sickly since 8th grade and I guess with so many problems, it's easy to overlook the most obvious and simple test.
The hematologist put her on massive doses of steroids, which is the usual line of first defense. The problem is, that for some unknown (hence the word idiopathic) reason her body destroys it's own platelets. The steroids reduce the bodies ability to make antibodies against itself. Unfortunately, they reduce the bodies ability to make antibodies at all. That and the side effects: hair loss, weight gain, moon-face, mood swings, ect. make steroids unpleasant to be on for long periods of time. As her platelet counts went up, they began to taper back the steroids. Unfortunately, she had a relapse and had to taken back up in dosage. She also has to take huge iron pills twice a day to keep her hemoglobin up.
Currently, she's off the steroids, but her platelets are again dropping. Last count was 130,000. With her doctor only offering the splenectomy as an option, we decided to get another opinion. There are other treatments. All of them have side effects, all of them have risks. Unfortunately, Lu is in those "childbearing" years so that has to be taken into consideration. They don't want to hurt her chances of conceiving or carrying babies full term or causing birth defects. Because of the chance of her platelets crashing, all of her pregnancies and recoveries will already be "high risk".
So while it's not necessarily "life threatening" on a daily basis, without proper monitoring of her blood work and some kind of treatment, it can get "life threatening" quickly. Lu doesn't like to think about it, much less talk about it. She's still having a hard time accepting that it's a lifelong issue. The hippie asks questions alot. He's taken her in for blood work. He now knows what to keep an eye out for and he makes sure she remembers her meds. Since she'll be living with him next year and not me, this eases my mind considerably. Definite points in his favor.
Fingers crossed for good counts next Thursday and a more acceptable treatment.
***There are also new posts up at The Gert & Hildi Chronicles and What Spot Saw. Don't miss a minute of my totally awesome life...check them out. =]