Monday, April 20, 2009

The Road to Discovery

More than one year after almost not finding out about a major chromosomal problem, I had the unfortunate experience of almost not finding out about something else. This time, it involved clotting.

It was January 2008 and I was about to begin my first IVF cycle with my previous clinic. Having already missed an opportunity to diagnose my translocation due to a former doctor’s less than stellar judgment, I asked the clinic to run a Thrombophilia panel. Two of my friends whom I met in an online support group had spoken of the risks of blood-clotting disorders in pregnancy, and I was a big believer in precautionary testing, particularly when embarking on as costly a procedure as IVF. I had already found myself in the 1% of the population with a translocation, so I understood that it absolutely can happen to me. And having one rare condition didn’t necessarily preclude me from having another. I called my doctor to request the test and she was, predictably, opposed to the idea. I insisted and she finally agreed to call in a script.

A week later, I called for my results and was told my blood work was normal. I was very relieved and proceeded to undergo two IVF/PGD cycles, neither of which produced any normals for transfer. It was a painfully disappointing five months. In June, while organizing a sizeable stack of paperwork -- we were taking a much-needed vacation and I like coming home to a clean house -- I came across my Thrombophilia report and began to flip through it. Within minutes, I learned that I had not one, but two clotting disorders. Each diagnosis had been underlined and initialed by the doctor. I was stunned. My own clinic -- a well-regarded one at that -- had informed me months earlier that my test results were normal, so I had assumed that to be the case. Things like this just don't happen, I thought.

Not only do they apparently happen, but they also manage to get worse. Several days later and still waiting for a return call from my doctor, I found out I was pregnant naturally. (This alone was alarming because with my translocation, getting pregnant with an untested embryo is a big gamble.) Suddenly, the recent clotting revelation was more urgent. If untreated, clotting problems can cause pregnancy loss, and if we were lucky enough to have a normal embryo, we could not afford to lose it to a blood clot. Unbelievably, despite leaving a series of increasingly frantic messages, I did not receive a call from the doctor for four days. When we finally did speak, she said she had not told me about the clotting disorders because “they weren’t that big of a deal.”

My doctor was actually admitting that she had taken note of my abnormal diagnoses yet chosen not to inform me because she considered them unimportant...despite the well-documented and well-recognized association between clotting and pregnancy loss. It was flabbergasting, to say the least, but my bewilderment would not continue for long. Six weeks later, the heartbeat had stopped and a karyotype revealed that the translocation was once again to blame.

What's most disturbing about these events is that had I not followed my own instincts to get tested, I would not be taking Folgard and baby aspirin each day (for my MTHFR) nor Lovenox when pregnant (for my anticardiolipin antibodies), two very simple treatments which can prevent very horrifying consequences.


areyoukiddingme said...

Being your own medical advocate is very important - and so difficult. Even when you push for information, if you have the wrong doctor, you don't get the correct information. It's so frustrating, because you know that the doctors think you're an idiot and have just been reading random stuff on the internet.

kayjay said...

IMHO, it appears that your RE was negligent in not informing you of the MRHFR but getting them to admit to it would be next to impossible. She was probably worried about a lawsuit if she admitted to being so careless. That is terrible and again, good for you for keeping such close tabs on your own medical care.

Linda said...

Disgusting. How careless of the RE to totally dismiss it. When I cycled back in November, I knew I had time as we weren't do an ET b/c of doing CGH. So I sat down with my nurse and went over every possibility of why I wasn't getting bfp's despite transferring 5AA and 4AA FISH normal blasts. So she suggested to do more tests - ones that I haven't already done, mainly the APA and hypercoag panels. Lo and behold, I've got one copy of MTHFR (the a gene). So I was put on Folgard right away as part of my preparation for the FET. I don't know if that made the difference or not, but we transferred lesser quality embryos that have been biopsied twice and FISH normal.

I wish you the best of luck. :)

DAVs said...

Yikes what a story!
You know, I've never been tested for those things. CCRM told me I didn't need to be, that they'd done every test they would. Interesting...

Sue said...

I can't believe how many stories I've heard lately (and my own is included) about how awful our old RE's were. I mean I've been told that I could sue for malpractice and I wouldn't be surprised if you could too! Its just too important to us to screw around like that. I'm so glad you discovered those issues (my neighbor just found out she has MTFHR after finding out her baby (28 wks) has spina bifida and she's m/c'd horribly in the past (19 wks) and no one ever checked her for this - its awful!). Its such an easy thing to fix, if discovered!

Anonymous said...

Ugh. I read your post with a sick feeling in my belly. We just found out that my husband has a BT, and because of where it is located (1&5), it seems that he is much less fertile than the usual robertsonian bt's. I spent the first two weeks after the dx replaying every time we didn't get the karyotype test. In someways it was the symptoms, in someways it was sexism (38 years old, must be your eggs). The bit about your doctor not telling you about the clotting disorders seems negligent. It's your helath information--even if she doesn't believe that it has an effect on pregnancy, it could have an effect on your health. I'm glad you are out of there. Yeesh.

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