Protein C deficiency (fertility stuff inside)

[Circe]

PS tends to be a font of useful information: anybody have any experience with this sort of thing?

I posted a v. long thread here after my first miscarriage at 6 months last year, and y'all were v. helpful. And I was posting for travel advice when my second one happened, back in the spring. I sort of felt like an attention-hog by the third miscarriage, which was on the anniversary, to the day, of the first one, so I opted for a discreet silence ... but I also finally got referred to a specialist by my gynecologist. Generally, they want you to wait until you hit three, like you're in a fairy tale, before they classify you as suffering "recurrent miscarriage" and do a more in-depth work-up.

And, hey! It turned something up. It appears that I have a blood clotting disorder called protein C deficiency. On the one hand, I'm relieved because now we can start moving forward with treatment, etc. On the other hand, I'm bloody furious with the medical establishment in general and my doctors in particular.

Nobody could have mentioned this possibility back around the time of the first miscarriage and run the test then? At the time, I was already playing amateur doctor and internet detective to figure out what could have caused it: I had to ask to be tested for parvo virus and a whole slew of other things, none of which showed anything. After the second miscarriage, I was asking for ultrasounds and worrying that something about the first one had caused some sort of damage to my system. I really had to go through a year of hell for somebody to run some basic tests? For that matter, given that I spent almost a decade on hormonal birth control, which cursory reading about protein C deficiency tells me is a big no-no, this couldn't be incorporated into an early screen for women?

I can't tell if I want to hit something or sue someone* or just break down crying. Argh.

*I would not really sue someone. I am not that litigious. I am just feeling angry and vindictive.

 

[Puppmom]

Circe, I would be pissed too! Sorry you had to go through so much to get answers but so glad you know now. So what next? Is there a treatment regimen for this?

 

[Mara]

Circe I would be upset too.

I personally think it's ridiculous that modern medicine makes you wait for things to be a certain time frame or # of times before they will do anything. I have a few friends who were trying and their Dr's told them they had to be trying a year before they could do any special testing. A year is a long time. And if you are say.. 34 or so... it might be longer because you have that dreaded 35 in your head and if you have never gotten pregnant then you don't know if it's because your BC was so great or because maybe something is wrong.

One of my friends was trying for almost a year and finally got them to test her and her hub and they found some immune issue that could lead her body to attack the embryo. Her hub also was on a prescript that turns out could be lowering his sperm count. And she was 38 so she felt like she had a ticking clock anyway and a year was a lifetime.

Anyway, on the plus side...YES now you know that something is wrong--and it might make you feel a little bit better inside to know something concrete. I know I am a hugely diagnostic person. On the negative side, you've had these horrible experiences that no woman should have to go through and you think, for what??? To save your plan some money?

Hospitals like to keep costs down, so they never seem to want to do anything unless it's a DIRE need. I have HMO that I've had since birth and over the last 35 years I learned how to work within the system and what makes them respond. Normally I can get an appt for something even if they wouldn't normally give it... but it's such a PITA to have to work that way for health care.

As opposed to being proactive, most hospitals and health care plans seem to be REACTIVE.

In any case, I am glad they found this, but sad for you that it took so long. Hang in there.

 

[Laila619]

Circe,

I'm so sorry for all you've had to go through. I'm not entirely familiar with Protein C deficiency, but I have read on The Bump that some women with blood clotting disorders and recurrent miscarriage take Lovenox throughout their pregnancies. Did you doctor mention that to you as part of a treatment plan? Big hugs.

 

[icekid]

Hospitals like to keep costs down, so they never seem to want to do anything unless it's a DIRE need. I have HMO that I've had since birth and over the last 35 years I learned how to work within the system and what makes them respond. Normally I can get an appt for something even if they wouldn't normally give it... but it's such a PITA to have to work that way for health care.
.

It's kind of funny you say this and MANY Americans feel this way. But actually, providers here are MUCH more quick to order studies than most other nations due to the litigious nature of our society. This is the reason that socialized healthcare will never fly here!

Anyway, much more importantly- Circe, I'm so sorry to hear that you have suffered another miscarriage. It must be really devastating. But it really is good actually that they have found the potential cause. Too many times they never figure out why!

Re: testing for protein C deficiency earlier. It's really not THAT common across the population. Actually, I've never ordered it and had it come back positive for one of my patients! So it's not something that anyone would order unless there were a reason to do so. Frustrating, for sure, but not really a surprise to me.

 

[DivaDiamond007]

Circe,

I'm so sorry for all you've had to go through. I'm not entirely familiar with Protein C deficiency, but I have read on The Bump that some women with blood clotting disorders and recurrent miscarriage take Lovenox throughout their pregnancies. Did you doctor mention that to you as part of a treatment plan? Big hugs.

Circe: I am so sorry about your losses. I have a blood clotting disorder (hetero. MTHFR C677T/1 copy) and also have some odd stuff going on with my Protein C/Protein S factors, however the hematologist stopped short of calling it a deficiency. I also have a personal history of DVT and a family history of early heart attack and varicose veins.

Have you a full workup of clotting disorders? If not then I would demand one from a hematologist asap. They are not regular tests, because clotting disorders can be rare, and they may be very expensive depending on your insurance coverage.

Like you, I took hormonal birth control pills for years before ever knowing about my disorder and now my OB/GYN will not allow me hormonal bc at all, expect Mirena, which my insurance company won't pay for.

I am currently pregnant with my second child and since I have a personal history of DVT I am taking Lovenox injections daily until I am 34 weeks. At that time I will be switched to heparin, which only stays in your system for 12 hours as opposed to 24 hours with Lovenox. If you've never been on blood thinners before, then you should be aware that there are serious side effects to taking them long term and that is something that you should talk to your doctor about.

 

[lovelylulu]

circe - i can't speak specifically to the protein c deficiency, but just wanted to say that I'm so sorry for your losses and your incredibly difficult year. I'm glad that you may have identified the issue and hope so much for good things to come in the future.

 

[ponder]

Circe,

I am so sorry that you had to suffer 3 m/c before you were refered. Its fustrating and heart breaking. After my 2nd m/c I was determined to not be told that I had to wait for a 3rd. Luckily my OB/GYN refered me to an RE with out me having ask. If he would have patted me on the head and told me that these things just happened without reason, I really feel that I might have punched him in the nose.

There are more reasons than I have hairs on my head for recurrent m/c and alot of them are treatable. I too have a blood clotting disorder. Like DivaDIamond007, I have MTHFR C677T mutation, but am homozygous and have 2 copies. For both my successful pregnancies I take a handful of pills, progesterone and estradiol throught the first trimester, but no shots. 81mg asprin works for me!

I am glad that you finally found MD's who are willing to take the time to listen and find out what is wrong. I knew I was in good hands when my OBGYN refered me immediately after my 2nd m/c and that my RE was determined to help me. My first appt with the RE was awesome. We did a 2 hour medical history review before an hour long physical exam.

Oh yeah and our insurance sucked during my 1st successful pregnancy. It did not cover the RE at all and very little of the extensive blood work. We dropped 6K on investigating the m/c and 1st trimester treatment alone. My RE's office was always sympathetic, but my philosophy was WTH else was more important to spend my money on.

I wish you good luck and lots of dust with your next pregnancy, and to quote my RE "You are not infertile! Think postitve because its a hell of a lot easier to keep you pregnant, than to get you pregnant!"

 

[DivaDiamond007]

Circe,

I am so sorry that you had to suffer 3 m/c before you were refered. Its fustrating and heart breaking. After my 2nd m/c I was determined to not be told that I had to wait for a 3rd. Luckily my OB/GYN refered me to an RE with out me having ask. If he would have patted me on the head and told me that these things just happened without reason, I really feel that I might have punched him in the nose.

There are more reasons than I have hairs on my head for recurrent m/c and alot of them are treatable. I too have a blood clotting disorder. Like DivaDIamond007, I have MTHFR C677T mutation, but am homozygous and have 2 copies. For both my successful pregnancies I take a handful of pills, progesterone and estradiol throught the first trimester, but no shots. 81mg asprin works for me!

I am glad that you finally found MD's who are willing to take the time to listen and find out what is wrong. I knew I was in good hands when my OBGYN refered me immediately after my 2nd m/c and that my RE was determined to help me. My first appt with the RE was awesome. We did a 2 hour medical history review before an hour long physical exam.

Oh yeah and our insurance sucked during my 1st successful pregnancy. It did not cover the RE at all and very little of the extensive blood work. We dropped 6K on investigating the m/c and 1st trimester treatment alone. My RE's office was always sympathetic, but my philosophy was WTH else was more important to spend my money on.

I wish you good luck and lots of dust with your next pregnancy, and to quote my RE "You are not infertile! Think postitve because its a hell of a lot easier to keep you pregnant, than to get you pregnant!"

Your form of MTHFR is much more serious than mine, however, I forgot to mention in my previous post that all forms of MTHFR are no longer being considered as the cause of recurrent miscarriages. I forget what official medical organization came up with this idea, but I say it's crap, even though I haven't experienced it myself.

 

[Circe]

Puppmom, Mara, Laila, Icekid, DivaDiamond, LovelyLulu - thanks to all of you for the kind words and the good thoughts.

Puppmom - I'm supposed to go and see a hematologist on Monday for more testing to pin down the exact parameters. I believe there may be daily injections of Lovenox in my future (I've been taking aspirin every day since before the last miscarriage). So, hopefully that will work: in the meantime, I think one of the things that I'm mourning (aside from, you know, the last year), is the image I had of a "normal" pregnancy. Now my best case scenario is the really scary 9-months-of-shots option, which, while certainly better than the alternative ... isn't quite ideal. I guess I'm just scared.

Mara - that's pretty much it in a nutshell. I guess I had a little too much faith in the system: I sort of trusted our vaunted health-care infrastructure to act as a safety net of sorts. While I research the hell out of things (me and my library of 20+pregnancy books, and obsessive internetting), it's no substitute for a medical specialty. I sort of assumed that my doctors would pursue the necessary options for me, to an extent that they ... don't. This is me losing faith in the system, I guess. I'm a diagnostic person, too, so once this sinks in I'm sure I'll forge onwards - I mean, what's the alternative? But in the meantime, I feel disillusioned and depressed.

Laila - thank you, and, yes. Lovenox gets ... mixed reviews from what I've read, which is part of what's making me nervous. At this point, I haven't actually seen my doctor for a consultation, just spoken to her on the phone and been directed to further specialists, so I'm a little wigged out. Talking to people who've been through this would be a boon: is The Bump a good forum? I can't escape the feeling that I overshare on PS, but it's one of the few forums that I've found where everyone seems sane, so I stick to it. If that might be an alternative source of support, that would be wonderful: I'll poke around and see if it might be a good fit.

Icekid - I guess what bugs me about my situation in particular is that ... in the case of an inexplicable late 2nd trimester miscarriage, I feel like there was a reason to run the test. I certainly would have asked for it if I'd been aware of it! Hell, I would have paid out of pocket for it if I'd been aware of it: it might have made for a year less of wondering if the miscarriage was because I had or hadn't done X, Y, or Z. I just wish that one of my doctors had brought the possibility to my attention earlier. I genuinely feel betrayed and disappointed: sort of like, what, on top of doing my job, I have to do the doctors, too, or I'll never get decent care and applicable solutions? The irony is that the doctor who finally recommended the specialist to me wasn't even my doctor: she was just a nice doctor in the practice who saw me crying in the hallway when I was told that my doctor wouldn't be able to squeeze me in, and she took me on and saw me through the third one. So ... many thanks to her for being wonderful, but there are three gynos before her who I feel more than a little disappointed in (one in Cali, one in NY for complications whom I didn't feel too comfortable with, and one who came very highly recommended). Alas.

DivaDiamond - congratulations on your first child, and your current pregnancy! And thank you for sharing your experience. I think one reason that I'm so freaked out right now is simply that I've never come across this before, and I'm ... panicking, I guess, because if I feel let down by the medical establishment and now I'll need them to get me through a pregnancy, day-in and day-out. My fertility specialist doctor did order a full thrombophilia screen, and I'm to go and see a hematologist on Monday. One thing that has me scratching my head is that (if my info. is correct) the numbers can be wonky inside of 3 months of a pregnancy. I'm only one month out from the last miscarriage, so ... I'm hoping they can get accurate information. A lot of what I've read about Lovenox online is a little intimidating. I'll definitely be talking to my doctor about it when I finally get to see her.

LovelyLulu - thank you. I really, really appreciate the support.

Ponder - heh, thank you. That is definitely a good point! I keep trying to "count my blessings," as it were, and I know my situation isn't as bad as all that, considered objectively. It's just the sudden shock of a diagnosis after all this time, and a weird sort of a combination of feelings - relief that there might be a solution, fear of the solution itself, the works. Once I finally had my appointment with the RE, she did a half-hour long review of my medical files, and a physical exam complete with ultrasound to make sure everything was okay: I do have faith in her abilities (though, I'm feeling a little frustrated by the process - the bloodwork was done on Monday, when a nurse mentioned the deficiency, but I didn't get to actually talk to her until today, and I won't be seeing her for another month - argh). Here's hoping that now that I'm in good hands I'm as fortunate as you guys, shortly down the line!

 

[ponder]

Your form of MTHFR is much more serious than mine, however, I forgot to mention in my previous post that all forms of MTHFR are no longer being considered as the cause of recurrent miscarriages. I forget what official medical organization came up with this idea, but I say it's crap, even though I haven't experienced it myself.[/quote]

As of Jan 2010 my RE is still of the opinion that any MTHFR mutation should be treated, and she has yet to let me down.

As a silver lining, it is good to know that I am at increased risk for cardiovascular disease/ stroke at this early of an age and that I can take steps to decrease my risk. Cardiovasular disease runs rampant on my Mom's side (even though everyone is thin and moderate to highly active). My Brother was diagnosed with HBP at 31 and is also homozygous. His cardiologist only tested him after my brother took my lab results to an appt.

Circe,

Patience is incredibly hard with what you are going through. I remember just needing to be actively persuing a healthy pregnancy and the lulls between appts and lab results just sucked. Also, I found that the rarer the condtion they were testing for the longer it took to get the results back. My thrombo panel took almost a month to get the results back. Try to have patience, but follow your gut. If you feel you are not getting the care you need go elsewhere.

 

[DivaDiamond007]

Circe: the 9 months of shots is intimidating, but you will be able to do it if necessary. I never thought I'd be able to inject myself, but I do. Every day. Like clockwork. My hair is falling out, my baby bump is bruised and sore but I do it because I want to have a healthy pregnancy. Lovenox is a pregnancy class B drug, the same as Tylenol, and does not cross the placenta so it does not affect your baby at all. One thing that you may want to start doing now is taking extra folic acid and calcium every day. Lovenox depletes the calcium stored in your bones so it's important that your levels are good to begin with and stay that way during a pregnancy so as to avoid fractures.

I wish I could reach through the screen and give you a hug because I know that this is really hard for you. Keep your spirits up and I will be keeping you in my thoughts and prayers.






PS - I lurk on The Bump, and they do have a high risk board but there's too much drama there for me. I just read it for comic relief

 

[Mara]

icekid... I hear ya, but then honestly, neither scenario is acceptable to me. It should simply be better. I know it's idealistic but I can't help it.

circe...yup re: feeling like you have to do their jobs too. Even though obviously they are medically trained and educated. And it's funny because so many Dr's tell you not to be the internet doctor and over-research but that is almost the only way you can get some peace of mind at times when you feel like they don't know what is going on and you need to bring them ideas.

fertility unrelated example... 3 years ago, i was having pains in my upper stomach, chronic and sharp. i saw 2-3 doctors at my HMO over 2 months. they said it was this. that it was that. none of which were right. turns out it was GERD, a type of esophageal reflux and i figured it out by researching on the internet. i talked with one more doctor, an older one and before i could tell her my theory, she said that is what she thought it was. BINGO. she put me on a med that worked.

i was extremely irritated that i had to keep asking to see new doctors and finally ended up self-diagnosing after a bunch of doctors didn't figure it out. ANYWAY--i am not knocking all doctors or modern medicine overall but it's imprecise and many times i feel like it's 'best guess'. i think as long as i remember that, i can continue to push during the times when i feel i need better care.

hugs, lady...you feel discouraged now and you have every right to. no woman should have to go through any of what you have endured, it's heart wrenching, and i agree that after the first m/c more could have been done. but hopefully armed with this new knowledge, soon you will feel enough hope to try again. take the best care of yourself.

 

[Laila619]

Hi Circe,

There is a Miscarriage/Pregnancy Loss topic on the Bump, and those ladies would probably be an absolute wealth of knowledge. I would definitely check that one out...they seem like a kind and welcoming group. The rest of the Bump is hit or miss. Some of the ladies on the Infertility board would also probably know about your specific diagnosis. I know a bunch of ladies there have MTHFR, which I believe is similar.

 

[cara]

Circe, what a horrible ordeal. I am so sorry you have had to go through this. I don't know if it helps or not to know of other women that have had similar struggles, but one of my mentors growing up had 9 miscarriages before someone finally figured out her particular immune issue and then she had two healthy baby boys afterwords. It seems like such needless loss and trauma for her and you.

Anyway, best of luck to you getting proper treatment and having a healthy pregnancy going forward.