27 Weeks

20140104-235416.jpgHow far along? 27 weeks 5 days
How big is Wyatt? He is as big as head of cauliflower (16in, 2.5lbs)
Health of Wyatt? Healthy, though more smooshed in there for sure.
Health of Momma? After getting over the flu, I’ve still got a residual cough and congestion, but feel good otherwise. Talk to me after school starts again #germpool
Symptoms: congested, tired, and sciatic nerve pain. Same as last update, but lets say all of these are WAY worse.
Weight gain? 25lbs…kind of nice to say that after the holidays and all.
Maternity clothes update? No new clothes purchased. Leggings and skirts are my friends.
Stretch Marks? I swear I saw a new little line pop up. :/ dang it!
Skin? Skin tone is uneven and very sensitive. But looks clear otherwise.
Sleep? Comes and goes.
Best moment this week? Entering the 3rd Trimester!
Labor signs? None
Belly button in or out? Innie!
What I miss? My back not hurting when I try to do every day things.
What I am looking forward to? meeting Wyatt and seeing who he looks like! 🙂
Weekly wisdom? It’s ok not to shower every day on your Christmas vacation 😉
Milestones? Entering the 3rd Trimester. 12ish more weeks!
Fears? Not being able to have the birth I want, and general fears of pain during the birthing process.

This week has been very emotional for me. Besides my personal stuff, I got testing results back from my OB.
I do not have gestational diabeetus- yay! But my counsyl test came back with some random stuff!
In the days before genetic testing, none of this would have been known to Barry and I. I guess it’s kind of a blessing- knowledge is power right?
But it’s also a curse because people like me worry too much. -_- Hello, Dr. Google!

So here is what we discovered about me, per my awesome genetic counselor:
For the fragile X results you have 20 repeats in one copy of the fragile X gene (this is normal) and 50 repeats in the other copy (this is the intermediate copy). A large study published in 2011 looked at premutation and intermediate carriers to see how often the repeat expanded. For women who had 50-54 repeats in the intermediate range, none expanded to a full mutation. For 5 of the 51 (~10%) of those women the repeat expanded to a premutation. For 13 of the 51 women (26%) the repeats were unstable, meaning they either got a bigger or smaller, with an average increase in size of 5 repeats and an average decrease in size of 8-9 repeats. So we would not expect any child you have to have fragile X. Your son would have a 50% chance of inheriting the copy with the intermediate allele and then about a 10% chance of it expanding to a premutation – this together means about a 5% risk for him to have a premutation). If he the intermediate copy or it expanded to a premutation then his daughters would inherit it from him and depending on the number of repeats they had may or may not be at risk for a child with fragile X. I hope that makes sense. If you have questions let me know.
It also looks like you were found to have 2 copies of the H63D mutation in the hemochromatosis gene. The report has a summary of hemochromatosis for you. Most people with two mutations in this gene never have any symptoms of hemochromatosis. For people with 2 copies of the H63D mutation less than 0.5-2% ever develop iron overload. I would recommend a transferrin-iron saturation level from time to time to monitor your iron levels.
You also had one copy of the E429S (more commonly known has the A1296C variant) in the MTHFR gene. This is a very common variant and one copy is not associated with any problems.
I think they were talking about testing your husband more from the perspective of the other findings than the fragile X results to see if he was a carrier of a hemochromatosis variant or MTHFR variant that you both could pass on to a child (though that wouldn’t make me too worried).

What does it all mean? Well, until she wrote me to let me know her findings, it meant I flipped out about the possibility of Wyatt having Fragile x. Because I’m hormonal and pregnant.
Then it meant that her awesome explanation gave me peace of mind. Wyatt is fine and would be fine no matter what. But it is kind of crazy to know these things about myself. As our genetic counselor said, “You guys are just swimming in all kinds of genetic stuff over there!” Yup! Between Ds, CAH, Fragile x, MTHFR and Hemochromatosis, we got it all covered. lol

So that’s the update for the week. I really did begin to write this when I was exactly 27 weeks. And now I’m closer to 28 weeks. Such is life, I guess! 😉


5 Replies to “27 Weeks”

  1. Ms. Newman,
    Would you be available today for a phone or email interview regarding your experience with the MaterniT21 prenatal test?
    Daniel Devine
    WORLD magazine

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