Showing posts with label chromosome 9 inversion. Show all posts
Showing posts with label chromosome 9 inversion. Show all posts

Friday, October 30, 2015

Progesterone?!

So it turns out it wasn't the Lovenox that was creating the weird side effects I was having, it was the progesterone!! Since last thurs I experienced rapid heart rate and chest pain. Over the past 2 days, the chest pain progressively got worse and started to really concern me. I told my doctors and they urged me to go straight to the ER.

  I went, knowing this would be a huge bill to add to the list, but hey better than dying I suppose. Their main concern was a pulmonary embolism in my lung which can be caused by progesterone. Since I have two clotting disorders...they wanted to be sure I didn't have that. So after numerous tests and an ekg, everything came back perfect. They just told me I was most likely having an adverse reaction to the progesterone and to stop taking it immediately.

  So I am happy that it wasn't the Lovenox, because that is what I truly feel I need. But I am scared because I have been on the progesterone for a week straight, 3 times a day. I hope my body doesn't crash off of it and it has a negative effect on my uterine lining. I asked my nurse if there was another type of progesterone I could take...like maybe a different brand! Or an oral pill? But she said she is going to consult with my doctor and get back to me. I have taken progesterone in the past, the oral kind, and I had no effects whatsoever! So I don't know why this one didn't do well with me? Sucks.

  As of now, I am still taking the baby aspirin and Lovenox and I just pray my natural progesterone will kick in and do it's job!

Always something, I tell ya!

Monday, October 26, 2015

Some days are better than others

It's so hard to see all of the babies being born around the time my babies should have been born. Every time I hear a new birth announcement I want to be so happy for that person, but the other half of me wants to just curl in a ball and cry.

I have good days, and I have bad days when it comes to coping with all of this. Today is hard. 

Lovenox

I have been on these Lovenox injections now since last Thursday (4 days now). I have had some weird side effects such as fast heart rate and also little red spots on my stomach. I contacted my nurse and she advised that I try switching to nighttime injections instead of morning injections. This will hopefully help me sleep through the crap and give it time to go through my system before I get up and moving.

 I will give it a shot! I expressed to her I do NOT want to stop taking this medication. I need this!! I don't know what I will do if I can no longer take it! So hopefully this suggestion works. In addition to that, man these progesterone hormone pills are making me SO insanely sleepy. I feel like I have been hit with a tranquilizer dart. Only 5 days past ovulation and I'm already feeling like I'm falling apart. Hopefully later this week I will know if we were successful or not! That will definitely lift my spirits if so!

I go in on wednesday to get my progesterone levels checked. Other than that...gotta keep on keepin on!

Thursday, October 22, 2015

Day 1.

Well,  I went in for my ultrasound to check on my ovulation progress and my main follicle was breaking down. That combined with bloodwork confirmed that I had ovulated! Husband and I DTD over the past 3 days so I think we have a very good chance of conceiving this month! So everything on our end is done, now it's up to the balls of cells to hopefully align perfectly!

 This morning I started all of the medication. I did my first Lovenox injection! It wasn't so bad. It went in with no problems...my only complaint would be that it stings for like 7 minutes. Kinda feels like a bee sting. It's not the greatest, but it's definitely not as bad as I thought it would be! I'm just praying my body takes the medication well and I don't have any side effects. It's scary to start a new medication especially one as important as this one. If for some reason my body rejects the medicine, I don't know what we would do as far as treatment! So fingers crossed there! So far so good!

I also started the progesterone suppositories. Oh boy what fun! Get to take those 3 times a day! (blek). But it will help keep the uterine lining nice and thick for baby, so whatever it takes, I suppose!

I really hope we conceived this month! To do all of this and not be pregnant would be disappointing for sure! Poking myself in the tummy every day for a baby is one thing...poking myself for nothing is quite another! haha!

So now we wait. The longest wait ever! I hate waiting!! I'm so impatient. But I am just going to keep myself busy and just try not to think about everything! Because we are so far from being out of the woods it's not even funny! Hell, we haven't even entered the forest yet!

One day at a time...

Thursday, October 15, 2015

2nd Ultrasound

Had my 2nd Ultrasound today to make sure things are moving along and where they need to be. Got an A+. Both ovaries have follicles that have grown and my right ovary follicle is looking really good. Will most likely ovulate from that one this month. My uterine lining is also right where it should be! So I am hopeful that this cycle will be absolutely normal and with the medication I will take, that everything should stick the way it's supposed to! :)

Wednesday, October 14, 2015

TTC Countdown is on

1 week to go until Ovulation! I am getting anxious, clearly. I went to have an ultrasound on my "day 3" cycle test to see my ovarian follicles! Looks like I have about 12 on board which is a good number! I also had my FSH and Estrogen taken and both came back perfect! I go in tomorrow for another ultrasound to be sure I am all geared up for Ovulation next week! Like I've said before - they want to be sure I ovulate before I start the injections. But everything seems to be on track so I think we will be given the green light! From there, it's up to Lovenox, Progesterone, Baby Aspirin and a whole lotta prayin! Stay tuned...

Friday, October 2, 2015

C'mon Aunt Flow!

Waiting for this cycle to start so we can get this ball rolling. I spoke with my nurse yesterday and I have to call her on cycle day 1, so we can schedule me to come in for an ultrasound on cycle day 3. Apparently tons of stuff seems to go on, on cycle day 3! But what they are looking to see is if I have a mature egg waiting on deck for ovulation. They will also do some blood work to determine that as well.

  It's really important to be sure I ovulate this month as well as WHEN I ovulate this month so I can begin taking the medicine to help build a strong uterine lining, to get my blood under control and hopefully help make this baby stick if we indeed conceive. We never have had a problem conceiving in the past, so I'm thinking this will be no different (fingers crossed). Also - rumor has it that after you have a HSG, your chances of conceiving are even greater! So we shall see! 

  

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...