Genetic Testing at 23andme - but no PAI-1 test?

Hello readers! Those of you who have been diagnosed with PAI-1 deficiency may know that this is a genetic bleeding disorder, which means it is heritable, that we can pass it down to our children. But do you know that very few labs do the genetic test for PAI-1 deficiency? Several labs seem to have the test for the opposite disorder - a genetic tendency to have too much PAI-1 - but few seem to have our particular disorder set up to test. I'm hoping the more visible we make this disorder, the more labs and genetic testing kits will include it.

I recently used 23andme to do a genetic test, and though it's still crude and broad - without a very large database, statistically, yet - it was a fascinating glimpse into all things genetic. You can see traits - from hair color to bitterness tasting - as well as genes you're a carrier for - for me, it was fructose intolerance! You can see disease risks (still sketchy, but better than nothing) as well as genes for breast cancer, Parkinson's, and Alheimers. But very little in the whole test - which studies hundreds of genetic conditions - for those with bleeding disorders. I suggest we write in to ask that they start including it as a standard test in their reasonably-priced kit (right now on special for $99.) There does not appear to be an easy way to contact them, but I did find this form:
https://customercare.23andme.com/anonymous_requests/new?reference=contact_faq
For those with life-threatening bleeding disorders, knowing whether or not you might pass down your condition to your children is an important factor in deciding whether to have children, and we shouldn't have to demand expensive (or even, sadly, often non-existent) genetic counseling to find out.

Questions for People With PAI-1 Deficiency

I wanted to address a few questions that have come up at the bottom of this blog (on the first post, there were a bunch of people with PAI-1 conditions that had questions about treatments, doctor's warnings, etc.

Treatments for PAI-1: As you may know, treatments for PAI-1 deficiency, which is very rare, are all still in experimental phases - just because there are so few of us to test. I'd love to hear what the newest treatments your doctors have been telling you about and how you've fared with them. The two drugs I've heard mentioned for treating PAI-1 deficiency were Amicar and Tranexamic Acid, and the other treatment mentioned has been plasma transfusions (not blood transfusions, which are different.) All of these treatments might be used in emergencies or pre-surgery, when people with PAI-1 deficiency are more at risk for bleeding problems.

Another question that came up repeatedly was about having children. I have heard from several doctors that a pregnancy would be dangerous for someone with a bleeding disorder; bleeding can be a danger even for women without bleeding disorders during delivery, and I'm not sure about the safety of taking our treatment medications while pregnant (anyone know about that?) Too much PAI-1 in the system - the opposite of the problem of PAI-1 deficient patients - can cause repeated miscarriage, I've seen that referred to in medical research, but I'm not sure what the research has show for people like me. I'd love to know if you guys have any info on this! I'm probably not going to try to risk having kids but there are lots of younger women who would find this info very helpful, so please post in the comments if you have any information.

I've heard from several teenagers who were diagnosed early with PAI-1 deficiency. I want to say I think that is the best thing that can happen. I went undiagnosed for a long time and had to deal with myriad symptoms that mystified several different doctors including three separate hematologists. The good news is, once you know what you have, you can treat it, stay safe, get yourself an emergency safety bracelet, carry medication, what-have-you. I think I've been able - with some exceptions, see the kid thing - to live a fairly normal life with this bleeding disorder (I also have some other health challenges, unrelated to PAI-1 deficiency, but that's not for this blog.) I played sports, got married, traveled, had my wisdom teeth out, all that kind of thing. Because I wasn't diagnosed properly early enough, I did suffer through a lot of confusing symptoms - the weird period drama, the anemia, exhaustion, etc - that could have been prevented with diagnosis.

Post questions below! I hope our community can help each other find answers. Good luck!

Why the Birth Control Debate is a Life and Death Issue for Women With Bleeding Disorders

Listening to the GOP debate, it is clear that these men do not understand that for some women, birth control pills aren't an optional, nice-to-have thing, but a life-saving medication to suppress monthly bleeding for women who might die without it. Including me. I was put on the pill when I was twelve years old to prevent critical blood loss, and it has prevented me, over the last twenty years, from needing more dangerous options like hysterectomy and blood or plasma transfusions. Surely your daughters and sisters and wives deserve this option, not only available, but covered by insurance, as well.

Please think about this and help educate your local politicians by writing letters and explaining that women take the birth control pills for many medical reasons, including bleeding disorders like PAI-1 deficiency, and other problems, like endometriosis or hormone imbalances, as well as to prevent dangerous pregnancies in women in whom birth would be devestating and dangerous.

Think about this when you vote, too. I don't want to put my life into the hands of a man who doesn't understand the difference between optional and non-optional medications, just because they've never been female, and never had a life-threatening condition.

To be your own superhero: managing your own health care

Poets Versus Illness, Being Your Own Superheroine

This is not specifically about PAI-1 deficiency, but about managing illnesses or medical conditions in general.

Recently I read Rae Armantrout’s series of essays about her discovery of, and recovery from, a rare cancer (events she wrote about obliquely in Versed). She’s wonderfully caustic about the doctors, the systems, and the management of illness in general. But she’s right about one thing: to save our own lives, we can’t expect the oncologist to speak our language; we have to learn to think like oncologists.

I’m reading another book, Your Medical Mind, that has also got me to thinking about what makes the difference between successful treatment and unsuccessful (ie the kind where you end up dead.) It occurs to me as I’ve navigated for many years through many medical quagmires that to stay alive, you need to be persistant, clear, brave, curious, aggressively self-protective…in short, not only do you have to be your own advocate, you have to be your own superheroine.

In the next few paragraphs I’m going to be more personal, more autobiographical, and probably more physically graphic than I usually allow myself to be on the blog. I am telling you these things in the hopes that maybe my stories will help someone out there not go through the same things I have, to be able to get help more quickly. I am not a doctor though I play one on TV, so treat all advice I’m giving accordingly. So, DISCLAIMER: I AM NOT A MEDICAL PROFESSIONAL AND CANNOT GIVE YOU MEDICAL ADVICE. But here’s what I’ve learned over a couple of decade of mysterious illnesses, injuries, and etc.

Several times I’ve had catastrophic things go wrong in medical settings. I almost died when several “things that almost never happen” all happened during an unnecessary surgery after I was misdiagnosed with endometriosis (yeah, I didn’t have it after all. Bleeding disorder instead. Whoops!); I’ve woken up from anesthesia in the middle of surgery more than once (Whoops!), had life-threatening allergic reactions to medicines as simple as codeine, and of course, with the rare bleeding disorder (that wasn’t properly diagnosed until I was thirty) several fairly dangerous bleeding incidents from routine things like wisdom teeth removal. Nurses have tried to put medicines I have explicitly told them I am allergic to (and had listed in my chart as allergies) in my IV lines while I’ve been sedated. Multiple times. Thank God someone was there to question them. When I’ve been awake, nurses have tried to talk me out of my allergies: “This will make you feel better. No one is allergic to blank. Etc.” There have been near-misses: doctors who recommended unnecessary and dangerous procedures that I was right to be wary of, doctors who prescribed medications that interacted dangerously with meds I was already taking, doctors who just plain gave bad advice that I’m happy I ignored.

Several times I’ve been saved from almost dying, too, by modern medicine: a trip to the ER and mercifully quick-as-a-snap treatment saved my life during one of those rare but nearly fatal asthma attacks I sometimes get; another saved my life from anaphylaxis as a reaction to wheat (a new allergy that arrived in midlife, unwelcome.) An IV drip of antibiotics and being on oxygen helped tip the scales in my favor when I had a serious case of double pneumonia a couple of years ago in California (the year everyone was dying of swine flu.) As a child, I nearly died from scarlet fever. I am thankful not only for these instances, but for the polio and tetanus vaccines I received, the routine exams that rule out problems, all the “boring” parts of medicine that make things like dying of the plague or measles or flu less common these days. I am particularly grateful to every small town primary care doc that took the time to track down weird symptoms, odd problems, and outside-the-range-of-normal results.

But here are my tips for successfully being your own superheroine (or superhero) when it comes to your health:

--Educate yourself. If you have a condition, such as asthma, diabetes, or say, even a rare genetic disorder, you need to find out everything you can about it. What does current research say are the best tests, the best treatments? What can you be doing to mitigate problems with your condition? Rae mentioned talking to a professor friend who ended up sending her to a researcher who may have saved her life with experimental chemo when her regular doc told her there was no treatment for her cancer. Stuff like that saves people’s lives every day.
--Don’t be a powerless victim when it comes to your medical care. Your doctors are part of your team. Create a dream team for your health. Your doctors are not your boss, your God, or your family. Your insurer definitely isn’t either. If you have a doctor who is not taking your stuff seriously, or who blows off an odd test result, or simply you don’t feel comfortable with, find another doctor. Don’t just settle for whoever’s down the street and on your insurance. If you live in a small town, go ahead and drive the extra hour to get to a research hospital with great specialists. Also, this might be a no-brainer, but if a doc almost kills me, for instance, I usually find another doctor. Someone I know called his doctor when he was having chest pain after a game of tennis, and his regular doctor told him to take an aspirin and come in for a checkup in a few days. My father happened to be present and insisted this person go to the ER right away, where it turned out – yup, you guessed it – this person was having a big ole heart attack. Don’t be the person that goes back to that doctor.
When three different hematologists were stumped while looking for the reason for my odd bleeding problems, my mother and I teamed up to look up specialists on the internet for me here in Seattle – the one we decided on was booked out for six months, by the way (the good ones almost always are) – and that ended up being the doctor who finally diagnosed me and is still my hematologist today.
Often, the best docs are at the big research hospitals, cancer centers, but read up on the latest “best of” lists, the latest research. Being board-certified is usually a good thing, for instance. Pay attention to what each doctor really specializes in. Don’t go to a rheumatologist if you really need an immunologist (sometimes, docs can be both, but not always.) The best fertility Ob/Gyn in town may not be the best person for your particular high-risk pregnancy case. Etc. I’ve found that even the “best” doc – if they’re not trained in the particular area you’re having trouble with – might not be the best doc for you. Also, if you have a doctor you trust, ask that doctor about the specialist (or whoever’s) reputation. Chances are, doctors will gossip. If I hear so-and-so is a jerk but a great surgeon, that’s fine, for instance, but it’s not what I’m looking for in a primary care doctor. In “Your Medical Mind,” the authors talk about how each doctor’s personality type can impact the type of care you receive, the medicine you’re given, the level of honesty you get from him or her, and how to manage each kind of personality type successfully. Do you really want to know why he’s handing you that prescription? And the answer could be: the pharm rep just took him out to lunch, and she was really good looking. Be aware that doctors are all human. Fallible.

--Be your own advocate. Ask questions. If you don’t understand what a test requires, or what a result means, or what a specific diagnosis means for you, make sure you talk to the doctor until you do understand. Also, in the same way you can fire doctors, you can demand adequate service from techs; if an ultrasound tech is too rough, or a phlebotomist screws up your IV a third time, ask for someone in charge and see if another tech is available. I refuse to work with bad phlebotomists. I already bruise like a banshee; I don’t need some idiot making a minor problem much worse.

--You don’t need every test, you don’t need an antibiotic every time you get sick, and you may not need that surgery. Think about this: every treatment might have consequences; for instance, tests might have risks: radioactivity exposure during a CT, chance of nicks to internal organs during a scoping, allergic reactions or just plain nasty side effects for medications. You don’t want or need unnecessary tests or unnecessary pills; more is not always better. So if the doc hands you a prescription, ask why exactly you need to take it, what you can expect on the medication in terms of side effects or interactions, etc. And ask again at the pharmacist (sometimes the pharmacists know more about side effects than the doctors!) Get a second opinion if someone diagnoses you without a thorough workup. Get a third opinion if it’s something really important.

--You’re going to have limited time with your doctor, especially if they’re a specialist, so make it count. If you have a couple of concerns, write them down on a pad of paper beforehand so you don’t accidentally forget one of them. Jot notes when docs give you answers. If you’re like me and a big forgetful under stress, bring your spouse or a friend or family member with you. They might remember a bit of crucial info that might be helpful to your doctor during the appointment, or later, when you’re getting treatment. I’ve actually brought in voice recorders that I used to use in my journalism work for important doctor appointments (ask permission before you record, of course.)

--If you must go into the hospital, try to have someone with you at all times. You know those horror stories about people being left in MRI machines all night? They do happen (I actually got left in a locked testing room once after surgery, though I was on an IV and unable to move…) The more people you have keeping track of your whereabouts, your allergies, problems, and your treatments, the better.

--Do not let your illness (condition, etc) define you or decide your life. Protect the parts of you (artistic, creative, shopaholic, whatever) that are separate from the disease and nurture them, even at your sickest. Keep friends around that remind you of the good parts of living. It is natural to feel depressed when you feel sick, and doctor’s offices aren’t exactly full of good cheer (we don’t even get lollipops with our shots anymore!) See a therapist if you can’t see the light, can’t make yourself feel good, and feel you are losing your fight. And do good to your own body when it is vulnerable – rest, offer it good things to eat, take your medicines at the appointed time,..the works.

Bleeding Disorders in Major Media

Thanks for the comments I've gotten thus far - I'm excited to have contact with other people who have, or are interested in, PAI-1 deficiency.

I was reading the March 2010 issue of Health Magazine, and I came across something that might have saved me ten or fifteen years of dangerous bleeding and the trauma of a botched surgery in which I nearly bled to death. It's a very simple Q&A - but not one doctor suggested it until I was over 30. I was so excited to see it! I hope it will save many women the pain and suffering I experienced.

From Health's "Embarrassing Questions:" (This is just a partial bit of the Q&A)

Q. My flow is very heavy...is there anything I can do?

A: If you need to change your pad or tampon more than once every one to two hours, or if your period lasts more than seven days, talk to your gyno about being tested for a bleeding disorder. New research shows that 25 percent of women who have a super-heavy flow may have one and not know it. (!!!)

25 percent! For years doctors brushed me off by saying I "probably had endometriosis" - which it turned out I didn't have. No, I had a bleeding disorder. I hope other young women will be helped and get themselves tested by a good hematologist - i.e. one that knows how to run more than the five standard tests.

PAI-1 Deficiency - treatments

Hey readers! Don't know how many readers of this blog there will be, given that PAI-1 deficiency is a fairly rare - like one in a million - bleeding disorder. Too much PAI-1 isn't good - it's a sign of inflammation and a sign of danger for stroke - but too little gives you a tendency to hemorrhage.
But I wanted to start something for people who might have this disorder but have questions or discuss problems related to bleeding disorders.
Plasminogen Activator Inhibitor-One Deficiency is a problem, essentially, not of clotting, but of not keeping the clots around large or long enough. Some of the indicators are:
--uterine or nose bleeding
--easy bruising
--cuts that bleed a little bit at a time, for days
--anemia
--abnormal bleeding from surgeries and injuries, such as dental work or head trauma.

There are not enough of us with PAI-1 deficiency for doctors to really know how to treat it. Two possibilities are:
--blood transfusion with plasma (the factors we are lacking are in the plasma, not the red blood cells)
--A drug that helps clotting called Amicar. This is not a guaranteed fix - doctors and researchers basically think it helps stop our kind of bleeding, but not enough research is available to prove this as a failsafe method.

I myself was tested for this by a top hematological oncologist in Seattle after I nearly bled to death during a routine operation. It was very scary, especially since I had been tested for all the usual stuff - platelets, hemoglobin, PTT and they had all come in normal. It wasn't until my brilliant doctor noticed my TPA was off that she ordered - out of a specialized blood lab - a test for PAI-1. It's not a commonly done test, so if you live in a small town, or not next to a major research or university hospital, it may not be available. However, I urge you to continue to pursue the tests even if your platelet counts are normal. Go find a hematologist who knows platelet disorders.

Please comment if you have this disorder or are interested in discussing it.