Showing posts with label MTHFR C677T. Show all posts
Showing posts with label MTHFR C677T. Show all posts

Monday, December 28, 2015

ROUND 5!!!

Got my first BFP yesterday!!!!!!!!! I took the test early that morning, and it was negative as can be. I officially gave up - and even didn't take a progesterone that morning because I was certain it was over for me. 2 hours later I had to go to the bathroom so as I went, I looked at the test in the trash. Took it out just to give it one more glare and couldn't believe my eyes when I saw another line!!! Are you joking?! I instantly took another progesterone pill and followed my normal medicine plan that night. (lovenox, progesterone).

  I didn't want to get too excited because you hear so much about "Evaporation lines" after 10 mins of the test so they usually are void after that. So this morning I ran to target cause I was out of tests, and went to work. At work I went to the bathroom and took another. BOOM. Right away, no doubts about it...no squinting, no flashlights, instant positive!!!! 





FINALLY!!! I am trying not to get too excited, this is my 5th attempt at pregnancy and I understand the risks. I have to remain calm and understand that I am far from out of the woods. These next couple of days/weeks will be the most critical. I am going to remain positive, but also understand that I am doing all I can to keep this one. But if things happen, they happen. It's out of my control and I understand that. And will just face things day by day. Like the words I live by now:

"Don't stress over things that may be....because they may never be...and you've wasted all of that time and energy stressing over nothing. Cross bridges as they come, live for the day" 

So today...I'm so excited!!! 


Monday, September 28, 2015

Mentally preparing myself

I often sit back and think about everything that I have gone through til this point and it still amazes me. I am at the point where I don't really know where to go from here if God forbid this doesn't work and I suffer through yet another loss. I want to be strong for myself and my husband...but I have taken my lashings and I just want to be done. I understand the reality that the possibility of losing another is very high. So I have to mentally prepare myself.

   I don't want to be a "debbie downer" and I know having a positive mental attitude is very important. And believe me, I am trying. But I am also the type of person that kinda goes by the "hope for the best but expect the worst" kind of attitude. Many don't like this rational....but it's the way I am programmed. It's how I deal. Maybe it's a bit negative. But it's just how I think.


  Anyway, we try again next month. In like 3 weeks I have to go back to the doctor for an ultrasound to make sure I am going to ovulate next month. It's important to time this ovulation precisely because I have to take these injections literally right after. So I can't be off on my days. Timing is everything with this one.

  It makes me a bit sad. It's all so calculated. The fun has been stripped away. The excitement is gone. It's very scientific now more than anything. I feel like a guinea pig. I will always remember the excitement I had with the first positive. I will always miss that feeling. Now I am just petrified, curious, anxious and angry that it has even come to this. But as my nurse said - if this all works out - every single thing I did to get there will all be worth it. I hold on to that very hard. Every time I will have to prick myself with daily injections...I will think of that.

  If this doesn't work out...and I do miscarry again. They will test the embryo and find out what is going on. I read a blog where the woman who was literally going through the same thing. She had another miscarriage after everything. 4 losses, same medications, I literally could have written her blog. But she went on to have her "rainbow baby" as they call it. Her blog gave me hope. That even if God forbid my long road isn't over...that one day it will be. Hopefully with a happy ending as well. But regardless the outcome, I just hope someone who is going through what I am going through will stumble upon this blog and find some inspiration...or at the very least, someone to relate to.

The Gameplan

Looks like I am all caught up now! I started this blog after all of this had happened, and wanted to move forward sharing my experiences as they come from here on out. So this is the most recent and up to date entry. Last week, Sept 22. we had our followup with the doctor to go over the gameplan. My doctor believes that the issues are stemming from my blood clotting disorders, so she is going to put me on a cocktail of medications for the next time (which will be after this cycle).

  Basically, the recipe is going to consist of:

- Daily Lovenox (a blood thinner) injections. Yes I have to take a needle and inject this medication into my stomach for the next God willing 36 weeks. If I make it that far, after 36 weeks I will switch to Heparin (another blood thinner) and will up the dosage to 2 shots in the belly a day until the baby is born. Then I will be put back on Lovenox for a good 6 weeks post labor. This will help prevent and/or breakdown any clots from forming while pregnant. I will get started on this medication on day 3 after ovulation (even before I even get a positive pregnancy test) to be sure no clots form during implantation.

- Baby Aspirin. Another blood thinner. Lovenox basically protects me from blood clots - baby aspirin protects the baby. Lovenox does not cross the placenta...baby aspirin does. That's the difference between the two. With my conditions, I will have to take baby aspirin every day for the rest of my life.

- Metanx - it's a non synthetic form of Folic Acid since my body has a hard time breaking it down due to the MTHFR. It also contains B6 and B12.

- Progesterone - Have to take this the entire 1st trimester to help keep my uterine lining nice and thick for baby.

- Calcium - Lovenox really takes a toll on your bones so I have to keep them strong with calcium tablets

- MultiVitamins - to go along with the Metanx
- Prenatal DHA - to help avoid neural defects
- Vitamin D3 - since I was low and it plays an important roll in pregnancy

And there you have it. Blah.



Give it to me straight, doc

Well, the results are in. And from what it seems...the issue lies solely within me. My husbands results came back perfect! More than perfect actually! I knew his results would. I mean, he's batted home runs 4 times in a row now! He's a champ! Me on the other hand.. well for starters, my HSG results came back great! Uterus showed no abnormalities and fallopian tubes are wide open! No blockages! So that was refreshing to hear! Also my FSH and AMH results came back, which basically gives you an idea of how your ovarian reserve (eggs) are....and my numbers looked great! Lots of little eggs left so definitely not going through menopause anytime soon! Yay! Now for the bigger issues. 

Here are my results: 
 - Heterozygous for 1 copy of the MTHFR C677T Mutation
 - Homozygous for 2 copies of the PAI-1 Serpine 4G/4G Variant 
 - Chromosome 9 inversion. 

 And there ya have it. Here is a brief rundown of what each one is:



What is MTHFR? 


MTHFR - (Methylene-tetra-hydro-folate-reductase) is an enzyme found in the cells of our body. It is needed to metabolize (break down) homocysteine, an amino acid found in the proteins you eat. Elevated homocysteine levels have been associated with fetal neural tube defects (i.e., spinal Bifida) and miscarriage. An elevated homocysteine level can also indicate a increased risk factor for blood clots, arteriosclerosis (hardening of arteries) and strokes in both men and women. The metabolism of homocysteine depends on several enzymes, one of which is MTHFR, along with B vitamins and folic acid. In other words, B vitamins, folic acid and MTHFR are necessary to keep homocysteine levels within normal limits.

Sometimes your MTHFR has a genetic defect. These defects are fairly common and its estimated by some studies that up to 60% of the population have one MTHFR mutation or another.

There are two common genetic MTHFR mutations. If you have one mutation only, you are heterozygous. It is reported that nearly half the population is MTHFR heterozygous. - it is nothing abnormal. If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid. If you have one copy each of the two different mutations, you are compound heterozygotes. Compound heterozygotes have the same treatment and risk level as homozygotes. If you have neither mutation, you are negative and don't need to worry about MTHFR.

There is NO CURE for MTHFR mutation. If you have the mutation, that's the way your body is made. You can, however, lessen any risk factors you have by taking B vitamins, Folic acid and baby aspirin in doses prescribed by your doctor. By taking these agents, you can lower your homocysteine levels and therefor your risk for the conditions above.

MTHFR mutations are hereditary. Families with significant early cardiovascular disease or recurrent pregnancy loss might benefit from clinical investigation.


PAI-1 4G/4G

      PAI-1 4G/4G has to do with the blood clotting system. Everyone has a plasminogen activator inhibitor that is responsible for helping to breakdown blood clots. A person can have PAI-1 5G/5G, PAI-1 4G/5G, or PAI-1 4G/4G mutation (4G/4G being the worst- the one I have). When the PAI is “broken” or “mutated” blood clots that form are not broken down as they should. With pregnant women, this can cause clots in the placenta, cord, or uterine wall, inhibiting effective implantation. MTHFR and PAI 1 4G/4G are a bad combo. MTHFR can be responsible for forming clots - and the PAI 1 4/G/4/G cannot break them down once they are formed. 


Pericentric Chromosome 9 Inversion

Pericentric inversion in heterochromatic region of chromosome 9 (inv[9]) is a common (1–3%) heteromorphism in the general population. Chromosome inversions are a relatively common structural alteration. There are 2 types of inversions. If both breakpoints are on the same side of the centromere, the inversion is paracentric; if they are on both sides of the centromere, then it is pericentric inversion.1 Pericentric inversion in the heterochromatic region of chromosome 9 has been recognized as a normal variant, generally without phenotypic effect. 
Pretty overwhelming stuff. My doctors and the lab tech, both agreed that they do not think the Chromosome 9 Inversion plays any issue in this. The lab tech stated that they are so common, he see's at least several a day. He also said it's considered a normal variant because the genetic codes are all there and the break point is in the center which leads to no issues. So I am just going to take their word on that and focus more on the blood clotting issues. Man oh man. Now time to figure out a gameplan...