Thursday, February 15, 2007

MTHFR and Other Medical Mysteries

No, it's not an abbreviation for motherfucker.

It's the gene mutation they FINALLY diagnosed me with to explain the clotting disorders in my family. Yes, I am no longer a medical mystery to be treated with the utmost care. I actually have a problem. Yay!

I have two genetic mutations but each mutation is heterozygous (one variant instead of two variants.) Trust me, trying to understand this is making just a little crazy. Because the mutations are heterozygous, they are putting me on prophylactic low dose aspirin daily. The plan is still to do prophylactic anticoagulation after the birth.

I never thought I'd say this, but THANK YOU Baby Factory Perinatalogist for running that test.

My blood pressure is doing really well. I've been sitting higher (systolic in the 130s) but my cardiac output is right where it should be. I've had my last appointment with the hypertension clinic at BHOI with their blood pressure Magical Mystery Machine. If I spike after 35 weeks they will induce me and get little boy out early instead of trying to further control my pressures with meds.

I CANNOT BELIEVE WE'VE MADE IT THIS FAR!

The Magical Mystery Machine nurses basically said I'm out of the woods. I know I'm not 100% clear of my pressures spiking. That will happen when LB crowns. But our chances of going to term are looking very good.

Remember, BHOI wanted to induce me at 39 weeks, no matter what.

And more good news. I'm doing so well that they will NOT put me on atenolol after the birth. I may get away with a couple doses of Lasix and then nothing, or, at most, a calcium channel blocker. Both are better options for breastfeeding.

Okay, done with all the med-speak. The short of it - it's ALL GOOD.

9 Comments:

At 2/15/2007 6:23 PM, Blogger Jude said...

I've heard that MTHFR can cause problems conceiving and sticking. I wonder if that held up your BFPness.

Either way, I'm glad you have some answers. I like answers.

 
At 2/15/2007 6:43 PM, Blogger Sacha said...

Hmmm, if it's true, that would figure. Motherfucker. He he.

As far as I can tell, MTHFR increases risk of miscarriage. I couldn't find reference to making it harder to get pregnant. I consulted Dr. Internets and it appears that the fact that my mutations are heterozygous vs. homozygous is my saving grace. If I had homozygous mutations, I'd be at high risk of clotting and miscarrying and would need to be therapeutically anti-coagulated even prior to trying to get pregnant.

Does hetero being preferable over homo say something about queers in general? Is this proof for the religious right of our inferiority?

 
At 2/15/2007 7:00 PM, Blogger tifferny said...

great news!

 
At 2/16/2007 12:32 AM, Blogger Tamsin said...

Great news! (even if I don't understand all the medical stuff)

 
At 2/16/2007 5:07 AM, Blogger Jude said...

Oh, Sacha, you are so hetero.

:)

 
At 2/16/2007 6:31 AM, Anonymous Anonymous said...

Ive got the MTHFR (though we DO call it motherfucker in our house) as well. Have they boosted your intake of folic acid and B6/12?

There is a pill called "foltx" that does all of that, but, I just take many little pills. My doctor swears that this combo should keep me from miscarrying, should I ever manage to conceive.

 
At 2/16/2007 8:48 AM, Anonymous Anonymous said...

It seems like things are finally coming together for you. I just had a chance to catch up on your postings, I am glad to hear you are going to be taking off earlier then expected. I know it is hard to do and I am very pleased that your parents will help you financially. I do understand about the pain, I am experiencing a lot of pain myself and it is getting harder and harder as time goes on. I guess the only advantage I have is I have a sit down job so that is good and my biggest issue now is where I park which is in a very far location from my work so the walks can be torture sometimes but if I have to I will ask my mother-in-law to help. Baby comes first and the fact that you realize you need to take off earlier then expected well already proves you are going to be an awesome mom. You are swallowing your pride and asking for help. Best of luck to you. We will make it through together. And in about 7 weeks we will have our little ones in our arms and all this pain and turmoil of emotions will not have been in vain but we will have what we wanted most.

 
At 2/16/2007 1:13 PM, Anonymous Anonymous said...

I too was diagnosed with the compound hetero motherfucker. I agree with a previous poster that you should probably be on a high dose B vitamin like Foltex or Folgard to keep your homocysteine levels low thus minimizing any potential mthfr related problems. I saw 3 specialists and never got a clear cut answer on whether or not it would cause problems. 2 of them told me point blank they just didn't know and there wasn't enough research so I trusted my RE and take my baby aspirin and Folgard. Anyway, glad you got some answers. By the way, did you have your homocysteine level checked? I was told that anything over 8 needed to be treated with Heparin therapy.

 
At 2/16/2007 5:24 PM, Blogger Sacha said...

I did have my homocystein level checked and it was normal. They think the folate in my multivitamin made my levels look normal.

I'll check into the vitamins.

 

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