Showing posts with label Genetic Testing. Show all posts
Showing posts with label Genetic Testing. Show all posts

May 20, 2011

18 Weeks

Seeing as I'm 19 weeks tomorrow, I guess I best get this update in.


How far along: 18 weeks 6 days

Total weight change: +6


Maternity clothes: Pretty much all the time.

Stretch Marks: No, but sometimes the skin feels tight.

Movement: Yes. This week it started to go from sporadic (every couple days) to more regular (each of last few days). Mostly I'm feeling rolls.


Sleep: This week my sleep has been pretty lousy. Lets just say that worries about the amnio results coupled with a UTI equals not a lot of good sleep.



Best Moment This Past Week: Finding out the results of the amnio. Baby is a perfectly normal little boy.



Most Difficult Moment This Past Week: Waiting for the results of the amnio. Torture. The UTI also sucked, but not nearly as much as the wait.

Belly Button In or Out: Definitely still in

Cravings/Aversions: Food. Lots of it.

Symptoms: Mostly the appetite and our wiggly little boy.

What I'm Looking Forward To: Telling the rest of the family we're expecting a son!

May 19, 2011

Results Are In!

Normal Baby Boy.

No trisomy of any kind. No neural tube defects. Just a healthy little boy on the way.

I can seriously not even put into words what a relief it was to get that phone call. Knowing that there is a decent chance there may be an issue with your child and then having to wait to find out for sure...its torture.

Getting this news is seriously one of the best days of this entire pregnancy.

October 26, 2010

#4

Well, the Betas are in and they are shit. I knew this was going to happen when I started spotting yesterday. Even though it was brown spotting, I knew what was coming. I've gone through it 3 times prior - I'm pretty much an expert!

So welcome miscarriage #4. You would think that I would be thrown a bone. At least one of these pregnancies should have been viable, right? Apparently not.

It is just so unfair. What a crock of shit it is that a financially stable, responsible, very much in-love couple cannot have a child. And I am just not saying this for me - I'm saying it for all of us that have been through or are going through this.

The thing that really gets me is that my body is perfect. Yes, I could afford to lose a few pounds, but that's about it. They have not been able to find a single thing that is medically wrong with me. I have had every test know to man done on me, and am surprised that I haven't been mistaken for a heroin addict, being that I have been a human pincushion for the past two years.

Wow, two years. Two years of trying to conceive only to end up with heartbreak in the end. Happy Anniversary to us.

I have an appointment with the RE next Wednesday. They are talking about shipping me up to The Cleveland Clinic for IVF with genetic testing.

I don't know what else to write. Infertility sucks.

September 9, 2010

Can't get pregnant, can't get unpregnant

I don’t want to spend too much time talking about the D&E itself. I will say that if you take away the heartbreak, the procedure is fairly simple and painless. We hadn’t told anyone about the pregnancy except my mom and my best friend, so we only had to break the bad news to two people. My mom had apparently told her friends, so she got to untell them as well.

My RE’s office needed to know if the defect was genetic in origin, so we had karyotyping done. Neural tube defects (NTDs) aren’t typically genetic, and ours was no exception (meaning it wasn’t the donor’s fault). I never did ask if the donor was allowed to cycle again. I did find out the sex of the baby, which I’ll refrain from sharing. (Mr. GB didn’t want to know.) I also received tiny footprints, which are tucked away safe for now.

(We don’t know what caused the defect. They say that NTDs can be prevented with folic acid. I’d been taking prenatal vitamins for years, but it wasn’t enough. At my request I was tested for MTHFR (a disorder that can cause difficulty in absorbing folic acid), and I don’t have that mutation. My homocysteine levels were also normal. I read NTDs are more common with IVF…I always wonder if the lengthy embryo transfer was the cause. I also read that hot tubs and saunas can cause NTDs, and I wonder if sunbathing was the cause, even though I sunbathed after the window for NTDs closed. It was probably just horrible bad luck. I’m taking 4 mg of folic acid now, just in case. I have a 1% chance of it happening again. I hope it doesn’t.)

As I was recovering from the D&E, I was more determined than ever to try again. In fact, I was filled with an odd sense of hope that’s really hard to explain. Maybe it was just a coping mechanism. I did have bouts of sadness and grief, but I was ready for AF to arrive and start a new donor cycle.

Except AF was nowhere to be seen, and my HPTs were still positive. And I was still bleeding, like for a month. Went back to the MFM’s office for an ultrasound but nothing looked suspicious. She gave me Cytotec/Misoprostol to try to flush out my uterus, but nothing happened. Mentioned the bleeding to my donor coordinator, who talked to my RE, who told me to come in for a hysteroscopy to look around. The camera showed that my uterus was filled with cobwebs (aka “products of conception”) and a second D&C was needed. My RE said I could get the procedure done at the RE’s surgical center, but we’d have to wait a month.

So we commenced waiting. Again. We’re talking 77 days between the first procedure and the second.

Surprise surprise, AF arrived 58 days after my D&E. I will spare you the details but let’s just say it was the worst period EVER. My RE still recommended the D&C, but the good news was that I got to go on the pill, which meant I’d finally have control of my cycle back and we were finally ready to start looking at donors again. YAY!

I had my second D&C on August 11, the same day we put down our donor deposit. In the next few days I’ll talk a bit about our selection process (my criteria changed dramatically), a slight setback, and where we are today. But for now, I’ve got to run upstairs for a Lupron shot!

To be continued…

Golden Bud

July 23, 2010

Our Genetic Testing Results are in...

A Very Busy June...
June and July have been quite busy months for myself and Mr. Blessed Bud. In June we made preparations to move into a new house and we underwent Genetic Testing to see if a genetic defect is the cause of our miscarriages. We had blood drawn for the Male and Female Karotyping Tests. This test also known as a Chromosome Analysis looks at the structure, number and arrangement of all 46 pairs of chromosomes. This test looks mainly for something known as a Balanced Translocation, which causes recurrent miscarriages.

What are Balanced Translocations???
A chromosomal translocation is a condition in which part of a chromosome has broken off and reattached in another location. In a balanced translocation, a person usually has all the genetic material necessary for normal growth -- a piece of a chromosome is merely broken off and attached to another one. However, when that person's cells divide to create egg or sperm cells for reproduction, the egg or sperm cells can end up with extra genetic material or missing genetic material, which could lead to miscarriage depending on which chromosome and genes are affected. Balanced translocation is diagnosed through a test called a karotype in which blood samples from both parents are analyzed looking for the translocation. Some research suggests balanced translocation in the mother is most likely to be associated with recurrent miscarriages, but fathers can be carriers as well.

Treatment for Balanced Translocations
There are no cures for Balanced Translocations, and these are the options for those TTC:

A. Keep going on your own and the odds are in favor of a successful pregnancy eventually, you will most likely experience more miscarriages
B. IVF w/ PGD
C. Donor Egg or Donor Sperm, or Donor Embryos depending if one or both partners have the Translocation

Our Test Results and What's Next?
Both of our Test Results came back NORMAL! It's kind of annoying because there is absolutely no explanation as to why I am miscarrying. We have a consult with Dr. B this Thursday to discuss our upcoming FET in August and what changes he will make to our protocol. I know one change he is making is to switch me from Crinone to PIO so he can monitor my Progesterone levels closely. For my first 2 pregnancies/miscarriages (one natural and one with TI and injectables under a different RE) I had no Progesterone support. My third miscarriage a c/p I was on vaginal suppositories and for this most recent FET/miscarriage I was on Crinone. I will have an UPDATE on Thursday from my consult and in the meantime we are still busy settling into our new place, which we absolutely adore.

Have a Great Weekend,



 

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