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

Saturday, August 18, 2012

August 18, 2012

Well, I've been meaning to get on here and post again for weeks, but every time I think about it, going to bed at 8:30 seems to win out! Phew! Talk about tired! By the time I get home from work, we eat dinner (which the husband usually prepares) and then I hang out on the couch most of the evening until M goes to bed, and then I'm not far behind. So yeah, not lots of blogging getting done. But, I'm 10 weeks, 4 days, and all is well. We have already had 3 ultrasounds- 6wks, 8wks, and 10wks. At the first ultrasound, the heart rate was still a little slower than they wanted to see, although the dr wasn't really concerned, saying that it usually picks up right around 6 weeks, so he just wanted to see it again to double check. They scheduled another ultrasound for 10 weeks, and when we saw the doctor at 8 weeks, they just did a little in-office one to reassure me that there was indeed a strong, fast heart beat. At the most recent one on Tuesday the heart rate was 171. Perfect!
Over the past weeks, I've had a few emotional ups and downs, but, amazingly, mostly ups. Once we saw that little heartbeat again at 8 weeks, I've been able to settle in to this pregnancy and trust that things are going well. I haven't seen a counselor. I did try calling one a few times, but must have had a wrong number because I never got an answer. I've kind of decided to just see how it goes.
As far as giving myself the shots every morning, well, that lasted for 2 weeks. And then suddenly, my hand would no longer move under my command. I literally had to have the hubs push my hand for two days to help me do it until I had another appointment and he could get trained to do it himself. So now every morning he gives me my shot before I leave for work. I hope he doesn't plan on going anywhere for the rest of this pregnancy. :) So grateful for him these days!
The big decision of the past week has been trying to decide whether to have any testing done for Downs syndrome. At my last dr's appointment at 8 weeks we ended up seeing the nurse practitioner because the dr was behind, and she didn't mention it, and I didn't realize how soon the testing would need to be done, so we hadn't talked about it. So when, at the 10 week ultrasound, the other dr asked if we had decided on that testing, we had some talking to do. There was no discussion required as to what a positive test would mean. We both want this baby, and all the genes that come with it. It's just a matter of what we want to know ahead of time. There are a lot of factors that come into play. With MTHFR, there are a couple different types, but one of those types is associated with an increased risk of DS. I'm not sure if it's the one I have or not. I think I have partially decided against looking further into it, at least for the time being. It doesn't really matter, and it's not a huge increase. I have been working with a couple of families of children with DS lately, and with each one, the conversation of whether they knew ahead of time came up either right before or right after I got pregnant. Neither of them knew ahead of time that their baby had DS, and both described the moment they realized something was wrong as really traumatic. Neither baby had any markers show up on an ultrasound, so no testing was done to identify it. One of the moms said she wished she would have known, the other wasn't sure, because she had a friend who did and said that her pregnancy was really difficult. It's hard to know which is the better situation, and I'm sure it's different for everyone.
Both of us really want to be able to enjoy this pregnancy, but, more importantly, we really want to enjoy the birth of this baby as a family. We didn't have that with M, because I was under general anesthesia, and the hubs was in the waiting room. He went to M as soon as he was able, and met her all by himself. I still can hardly think about him standing there all alone with the dr talking about odds of survival, surrounded by nurses, monitors, etc. The first time I saw her was so difficult, and I had seen pictures, heard him talking about her for 2 days, and had him standing behind me. I can't imagine anything more difficult. This time, we want something better for our family. If our baby would have DS, then I think the best time for us to adjust to that idea would be while I'm still pregnant. It would be hard, but it would still be our beautiful baby. So we have decided to go ahead and have the test. The waiting period will probably be tough, but I think it will be worth it. Most likely it will be negative, and if it's not, then we'll have time to prepare to welcome our baby into the world.
Our dr's office offers a nuchal translucency (NT) scan and a blood test, and, if that comes back with an "increased risk", a newer genetic test called MaterniT21. This is a blood test (of my blood) that is about 99% accurate. It's also totally safe for the baby, because there is no need to retrieve any amniotic fluid or anything else inside the amniotic sac, as in the amniocentesis. I wouldn't be comfortable with an amniocentesis because of the risk of miscarriage associated with it, but I can handle one more needle prick for myself. My only concern is that the NT scan and blood test are only about 85% accurate, so there's still a chance that they could miss the need for further testing. After asking some questions of Ashley over at Those Newmans, we decided to ask if my dr would skip the pretesting and just do the MaterniT21 test. He wasn't in on Friday, but his nurse called back and said she thinks it should be ok, but she'll have to check with the dr. So we'll see.
Speaking of Those Newmans, Ashley and her blog have played a pretty big role in the decision to test, as well. I originally found her blog while I was googling MTHFR and fertility, and continued to follow it. Her son, Eli was born with DS and they did find out ahead of time. The way they were able to prepare themselves and become excited all over again for the special journey God had mapped out for them helped me to understand that, if necessary, we can do that for our family as well.
With all of the thought and emotions that have been put into this decision, I have to remind myself that the odds of any genetic abnormality are really low. It's a precaution we have decided to take for our family, but odds are, like everything else, it's going to turn out fine!

Friday, June 22, 2012

June 22, 2012

Well, there's good news and there's bad news. I am pretty sure I ovulated on Tuesday (cd16). Hooray! Awesome right? The Clomid seems to have actually worked! The bad news is that I had ZERO signs. My cervix was clamped down tight, I had one tiny patch of very sticky cm, and that's it. For that reason, although the hubs and I have been on an "every other day schedule" when I attempted to woo the hubs Tuesday night and we ended up in an argument, I thought, "Well, it's not like I'm ovulating anyway," and we missed our chance. Seriously?!? When I woke up the next morning at 6 and had that first high temp, we did our business then, hoping for the best, but I know that chances are slim at that point. I would like to think that Sunday may have been recent enough, but with no real fertile cm, I seriously doubt it. Soooo.... I guess there's a chance, and that's nice to know, however small. That's a change from the past four months, since I haven't ovulated since early Feb.
A very good friend found out Tuesday that she is preggo. They have been trying for 10 months now, and I couldn't be happier. Her son is three weeks older than M (although he should have been 3 months older). It's still VERY early, so no one else knows yet, but I feel special and honored that she shared her exciting news with me! I can honestly say that hearing her news makes me purely happy. I would love to share another pregnancy experience with her, but whether or not I end up pregnant this cycle, I have no hesitation in celebrating with her.
There is a very small and silly part of me that feels like if we would be pregnant and due at the same time, I surely would have to go to term or close. Surely God wouldn't give me another preemie and then make me watch my best friend and her baby grow so big. Obviously, I don't presume to know God's plan or purpose. It just seems like that would be an unnecessary pain, so if we were due at the same time it would have to make everything ok. But logic prevails and I know that there are no guarantees, regardless of signs, coincidences, or anything else. Even someone with no history of problems has no guarantees. I just have that fact in my face more than most.
So it would probably be a good thing if I would be a month or even two behind her, just to keep me from comparing and having to watch her finish her pregnancy if I don't make it to term. The logical side of my brain knows that very well.
In other news, I decided to "take the plunge" and call an RE. I talked to a friend who has been dealing with infertility for a long time and asked her for a recommendation. I just don't know where to start looking for that sort of doctor without asking someone who has seen one. She recommended two, both of whom she likes a lot, but one of whom is cheaper, more aggressive, and has appointments in about a week versus a month or two. So that was an easy decision. Although I know now that I am able to ovulate using a low dose of Clomid, I feel like the risk of multiples and the fact that the Clomid resulted in no other fertility signs warrants a visit with a specialist. I am hoping that he will be able to weigh the risks and benefits of Clomid, figure out the reason my cycles are so unpredictable and far between, and figure out the best way to get me ovulating and fertile so that we can make a baby! I just feel like with my medical history of homozygous MTHFR, Factor V Leiden mutation, severe pre-eclampsia and HELLP syndrome on top of whatever is causing me not to ovulate, I need someone who has knowledge in all of these areas and can consider all factors when deciding on the best course of action. So that appointment is next Friday. Just a week away! That will be 10 dpo, so I may start my period that day, which would be unfortunate, but when I called and read his website, I was told that we will start with a consult, then a medical exam and work-up, then a talk with the RE himself to discuss a plan. So I really think that we will leave there with a plan! Hooray! It may just be another round of Clomid while using Pre-Seed, but I'm fine with that if he feels the risks are small enough. Hopefully it will be a worthwhile appointment and we can leave with more knowledge than we have now.
It's going to be a good month!

Tuesday, April 17, 2012

Beginning a Journey

Hello Poppy Seed

My daughter,
Who not so long ago
Was a poppy seed to pollywog
That grew inside of me,
Is newly pregnant.

I imagine
The million moments of
Carrying, calming, feeding,
Adoring, worrying,
Astonishment
Holding on
And letting go

That are stored in her now
Like chromosomes on a gene,
Too intricate,
Too detailed
To map.

Already I recognize
The way she walks—
Protective,
The way she speaks
About other things
But is never unaware
Of the precious secret
She holds inside.

You are blessed,
Little poppy seed.
You will grow
In a nourishing womb.
You will be born into arms
That yearn for you,
Held close by a bond
Formed long ago.

In a lifetime of achievements
And failures
I am most proud
Of this beautiful mother/daughter
Who started as a poppy seed
Inside of me.

Maria Brady-Smith, October, 2009


Matt's size 11 wedding ring
This poem was written by my mom shortly after she found out I was pregnant with our daughter, Mya. (Hopefully she doesn't mind me posting it here :) ) My husband, Matt, and I were newly pregnant and read that, at that gestation, she was about the size of a poppy seed. Thus the inspiration for the poem and blog title. When I think about that stage in our lives, I think about how naive we were, and about all we had ahead of us that we didn't know was coming yet. Mya was born the following March and just 28 weeks 1 day, weighing 1 lb 10.8 oz. It's hard for people to imagine a baby that size, and it's hard for me to remember her at that size, but my husband's size 11 wedding ring fit over her arm, up to her shoulder. Now, at 2 years old, it barely fits over two of her fingers.
The first time I met Mya after she was born.
I wish I would have started blogging or journaling at the beginning of my pregnancy, or at the beginning of our NICU stay, but now, two years later, is the first time when I have felt that the whirlwind has died down enough to try it out. So here goes nothing. I am beginning at another beginning: the beginning of trying for baby number two. This is a whole new experience for us. When we decided to try for a baby the first time around, I had no known health issues, no complications, no reason to think everything wouldn't go smoothly. This time, I have a history of pre-eclampsia/HELLP Syndrome that cause Mya's early arrival, and have recently been diagnosed with two separate blood clotting disorder: homozygous MTHFR and Factor V Leiden Mutation. Research is emerging, but is seems that the Factor V is likely at least part of the reason for the HELLP Syndrome. Along with that information, my cycle is very irregular (meaning I don't ovulate very often) and I have an appointment with my doctor coming up soon to determine whether there is a separate reason for that. I have my theories, but I'll have to wait and see. So at this point, getting to the point of holding baby number two in my arms feels like a step by step process with lots of unknowns and each stage. Will it be difficult to get pregnant? Will I be able to carry a baby to term this time around? Will I end up on bed rest or be able to continue working during my pregnancy? I have no doubt that we'll get there, but I'm just not sure of the path God has in mind for us.  This blog is my documentation of our journey.