I have a clotting disorder, Factor V Leiden. I clot too fast. In college (when I was young and invincible), I was smoking and taking birth control pills. Hubby, then Boyfriend, and I drove from MI to VA one day, then VA to FL the next to spend a week at Disneyworld. 6 days later we made the reverse trip and arrived back on Sunday. On Tuesday evening, I played an extremely difficult symphony in rehearsal, and was utterly exhausted afterwards. Wed morning I was having pain in my abdomen and shoulder while playing, and thought I'd sprained my diaphragm the night before. Suffered through it the rest of the day, but by that night I couldn't lie down, I couldn't sleep, I was having severe pain in my shoulder, chest, and abdomen, and I couldn't catch my breath. Boyfriend sped me to the ER, and after numerous scary and STAT tests I was diagnosed with a pulmonary embolism in the middle of my left lung. 5 days in the hospital on high-dose Heparin, and 6 months on Coumadin. 3 months with lungs full of fluid, sleeping in a chair and unable to fully take breaths. Had to give up my Principal Oboe position because I could only take tiny breaths. Almost had to have the fluid drained manually with a large needle, then it suddenly resolved on its own. Not fun.

Anyway, one test they did was to see if I had this Factor V gene mutation, which I do. I have a single copy, which means I only got it from one side of my family. I don't have to take daily medication, but I do take Heparin when I travel and when I'm pregnant. I freaked out when I found out while 6 months pregnant with Ebay that clotters often have early miscarriages.

I bugged my parents to both get tested to see which one of them passed the gene onto me. I suspected it was my father, because his mother suffered years of debilitating mini-strokes in her last few years. After 7 year of asking, Mom got herself tested earlier this year, and was found negative. I kept pestering Dad, and he finally got tested last month, and was found positive. He's got an appointment with a hematologist in a couple weeks, to see if he should be on preventative therapies to avoid the same fate as his mother.

I want to send an email to all his brothers and sisters asking if they would please test themselves for this same gene mutation, for the same preventative reasons. And, if any of them are positive, test their children. Dad doesn't want to send the email until after he talks to the hematologist, and even then he's not sure. He doesn't want to scare any of them. I want my little cousin to know that she may not be able to take birth control pills. My brother knows, and is contemplating testing himself. I don't want anyone going through the same terrifying, potentially fatal experience I did.

So here's my question. If this were your family and you were one of the unsuspecting relatives of a person with a genetic disorder that could be fatal if it rears its ugly head, would you want to know, or would you be happy living without the knowledge? What if it were some other genetic disorder, like Huntington's disease or something of the like?

Voting on the side of wanting to know... now that I have a kid. Prior to that I may of been inclined to say no thanks. But I have responsibility to El Destructo

I would tell them all, but not necessarily suggest they get tested. Well, at least until they found out what their insurance repercussions will be. The law is tricky on that - they can be deemed too high risk to insure.

If they or their doctors are worried enough, they'll get tested. At least they'll know it's a likelihood.

mamawho - you bring up a good point. I really am not sure what I would do...

We are very free in our family with medical issues (and all other issues) so if it was us, we'd all have run out and gotten tested when you landed in the hospital the first time. BUT that's just us and we're an odd bunch.

Good thinking on the insurance. If we tell them, we'll point that out.

Oh hell, yeah, I'd want to know. Even if there were nothing I could do about it, which it sounds like there is. Because I'm still without a definitive diagnosis on my condition, and when I have flare-ups (like this week), I lie awake at night wondering what the doctors are missing, whether what they're missing is fatal, and whether I'm going to see my son grow up all the way.

/violins

Definitely would want to know. I originally sought out my birth parents just to see what sort of genetic legacy I would be passing on to at-that-time-theoretical offspring.

I would want to know. I would also get tested and have my kids tested. I'm not a worrier but I am a planner and would want to arm myself with info if one of the kids or I had were diagnosed.

I think you should tell but in a "here's what happened to me and it's genetic so...you might want to do a little research and maybe see what's up with you..kay?" kind of way.

I think it's definitely beneficial for them to have the information.

I would want to know. Things like Huntington's and so forth rapidly change your priorities. You've only got ten years to live? You need to reassess your to-do list.

Definitely want to know. Then at least you can take whatever preventative measures are possible.

We have something similar to this in my mom's family. My aunt died of a genetic form of thyroid cancer. We only found out about it when J got sick, but it can be prevented if you get your thyroid out early (the cancer usually develops in your late 30s or later) but is not terribly treatable if you get it because it apparently spreads very quickly, and several of my aunts and uncles and cousins had to have their thyroids out. Luckily for me, my mom is one of the few of her siblings who didn't have it, so my sisters and I are all clean.

But it turns out that a couple of my cousins didn't want to know and didn't want to have to get the surgery and now they have the cancer. One is in his mid 40s with teenage kids and the other isn't even 40 yet. It really, really sucks.

I don't know... HBD. Is this what possibly caused Ebay to be premature?

When I found out I had von Willebrand disease I told all of my family and encouraged them to get tested because it is the most common hereditary bleeding disease. In women the most common symptoms of vWD is heavy and prolonged menstrual periods and every female relative I have on my mother-side suffers from this problem. The misdiagnosis of vWD causes many women to have unnecessary hysterectomies.

The hardest part for me was waiting for 1st kid's (he was 3.5 at the time) test results to come in. I didn't find out I had vWD till I was 5 months pregnant with 2nd kid. 2nd kid was tested as newborn will need to be tested again when she's older.

Heck yeah! I'd want to know and I wouldn't have any problem telling my family. What they choose to do with the information is up to them, but if they had kids, I would hope they would get tested.

No question about it!

i'd at least tell them - you can't force them to get tested, but the only other way they'll know they might be at risk is if something horrible happens. And since it's something preventable, something you take thinners for etc., yeah, i say at least make them aware they have a higher than average chance of having this condition. What they then DO with that knowledge is up to them.

If it was me, i'd want to know. So that i didn't do anything that would set it off. if they know you have it, and your dad has it, they can alwaysd choose to just take their chances if they don't wanna know.

But worst case scenario, a relative dies from sudden stroke, i don't think anyone would feel that great if they then found out you'd had information you were sitting on. If you just make them aware, then you've done all you can, really. Anything after that is up to them.

Absolutely yes.

In my family there is heart disease, high cholesterol and other ailments. I want to know about all of this stuff so I can be on the lookout for it. I would DEFINITELY want to know about this.

But maybe it shouldn't be done in a mass email. Maybe a call to each family member would be better.

Welcome Dirtycupcake!!

>I would tell them all, but not necessarily suggest they get tested.

this. i think they need to know, because what if one of them has a pulmonary embolism? think back to your experience, if you had known that such a thing was likely, would you have sought treatment earlier? that must have been so terrifying - marmaduke's slp had a pulmonary embolism a couple of months ago and when she finally went to emerge, she had a heart attack. terrifying stuff. also, if any of them (or their kids) needs any kind of surgery for any reason (appendicitis, boob job, whatever), i'm sure the docs would want to know about a potential clotting disorder beforehand.

what a scary thing. i don't know if i'd get tested, just because then i might worry myself to death about it, but certainly i'd want the chance to make an informed decision about testing.

I think your family members will be safe under the Genetic Information Nondiscrimination Act if you were to tell them.

http://www.genome.gov/10002328#3

And I would want to know if such a problem exisited but I don't know if I would get my family tested though.

I would absolutely want to know.

The Genetic Information Nondiscrimination Act protects them, but all bets are off if they develop the condition for which they carry the genetic markers. Then insurance can drop them like a hot potato. Or charge them outrageous premiums and still exclude treatment for that condition, which is what happened to me.

There are rumors that legislation will be developed to protect those who actually have genetic conditions, which is crucial as genetic components are being discovered for so many things.