Sunday, February 28, 2010

Oh happy day!! You're a medical oddity...

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.

Sean: Why?

Me: Because it's National Rare Disease Day and she has ITP.

Sean: And?

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 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. =]


  1. You guys have had some tough stuff to deal with and you are all so funny and cool, in spite of it, or because of it. xx

  2. Holy cow, that really does sound scary.

    I love that you have such a great sense of humor about the rare disease holiday, but your motherly concern still shines through. My fifteen year old would sleep her entire life away if she could, so I know I would never consider her being tired all the time as a warning sign of anything.

    Wishing Lu the best on her medical oddity day. ;)

  3. Your honesty, frankness, sensibility and humor will help Lu immeasurably, setting a fantastic example, as she cares for her health in years to come. I'm sure it's got to be difficult for you, but not once did I hear a "why us?" sound in your post, and though that's such a natural thing to consider, I find it so laudable and refreshing that you are not allowing yourself to dwell on that, but rather taking a well, what do we do from here attitude. Now that is a great mom! And by the way, I don't see how you can fault yourself at all: teenagers are always tired and complaining about things! There's no reason why you should have been able to uncover a rare disease! I'm sure if my daughter had come to me with red spots I would have assured her it was flea bites. And anyway, when the disease presented itself in a way where it was urgent that something be done, you did!

  4. Wow. So much for someone so young and while I want to say Happy Rare Disease Day, I think I'll pass. It just seems so wrong.

  5. Prayers lifted for Lu. I had a similar (no where near the extreme with the red spots) when I was her that was a long time ago. Back then (after excessive testin) I was diagnosed with a borderline factor 8 (platelet) defiency. I'm not supposed to take aspirin. I hemoraged with my first childbirth, but did fine with the second. Lu's condition sounds much scarier than what I went through. It's a sense of humor and of course, love that gets us through those tough and scary times. I hope they will have some better options to relieve her symptoms.

  6. Tina~ Thanks. The other option was depressed, paranoid and angry. That didn't sound like much fun.

    Mrs. Bear~ thank you from Lu. Unfortunately, she had to work. And hippie had to return home so she didn't really think much of the day! Lol. And I know, teenagers sleep all the time!! It really wasn't much of a clue.

    DfG~ Thank you for your compliments! It's funny because the first thing I asked her was "are they flea bites?" bc we do have 8 cats. But she said they didn't itch so we let it go. I guess hindsight is 20/20.

    LMB~ It does sound wrong. I'll give you that. But we always joke about everything. It's how we deal.

    Suzicate~ I had some trouble with low platelets as well in my teen years and sometimes still (hence my beauteaous bruise the other day) but also not to Lu's extent. And I hemoraged with Sean as well. I have my fingers crossed that they will have some good options and things will go well! She's not supposed to take aspirin, motrin, or drink alcohol because they all thin the blood.


  7. That really stinks! Hugs to her. I have a super common disease and it's just not special at all. :-)

  8. Once again, your humor amazes me. Although, I do have to say I operate in much the same way. It's much easier to laugh than cry (I'd be remiss if I didn't add that I have been known to blubber around the house every once in ain't always all chucks around here.) Happy Rare Disease Day! =)

  9. Poor, Lu. That seriously isn't fun. I know how it feels to have to get blood drawn all the time, and I feel for her! :( Hugs all your way.

  10. Angelia~ Me too. Welcome to ordinary! Lol.

    Mindy~ I cry in the shower. No one can hear you and you're already wet.

    UnA~ Thank you! She appreciates the sympathy!


  11. Wow. I'm so sorry that Lu's gone through so much...and subsequently YOU, as well.

    It never ends...does it? I'm keeping you guys in my thoughts and hoping for a more promising second opinion.

  12. That is so sad and scary. Your family has gone through so much and yet your humor shines through it all. (((HUGS)))