MTHFR

I’m so conflicted about the MTHFR gene and the potential issues it causes if you have it. Mostly because it’s so common now- more people than you would think are affected. If it’s so common, why does it affect some more than others?
True, there are different mutations (MTHFR), so depending on the mutation will depend on how it affects you. Some combos are considered more harmful than others but most people who have it don’t even know they have it.
No matter which mutation you have, there seem to be many health consequences linked to abnormal MTHFR and poor folate absorption.

I know people who have it and have healthy, typical pregnancies with no issue. I know others who have it and struggle to get and maintain a pregnancy. I am someone who struggled.

I’m also conflicted because there seem to be a lot of connections being made about what affects MTHFR has on the body.
Like the thyroid, it can easily be linked to just about EVERYTHING that’s wrong with you.
The list at Stop the Thyroid Madness is overwhelming. It includes scary things like certain cancers, stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, neural tube defects, migraines, chemical sensitivities, Parkinson’s Disease, and many more illnesses.
Recently, I have even seen it being suggested that it can cause Down syndrome.
As a mother, there is nothing scarier than thinking you could have caused your child harm. So I just need so say this for myself and anyone else who may be worried about it: Down syndrome is absolutely not caused by MTHFR. It’s a random occurrence. There is nothing that could have been done to prevent it. Eli’s Down syndrome is chromosomal and not hereditary. It just happened. And we are thankful every day for Eli.

Its easy to get swept up in fear- or worry that you’re not doing enough. Did I take the right vitamins for long enough? Did I eat right? Was I stress free?
When I look at my family history I see cancer, Parkinson’s, Down syndrome, thyroid issues, asthma, uterine/cervical issues, miscarriage…I mean the list goes on. Does that mean they are all related to MTHFR?

I look at my children and begin to wonder if any of this is related to MTHFR. My first pregnancy was lost due to a neural tube defect. Then Eli came along with his extra chromosome. And most recently, Wyatt was born with a sacral dimple. MTHFR or just random?

Add to that the increased risk of people with Ds developing Alzheimer’s later in life…can these things all really be connected? Does MTHFR cause these issues or increase your risk of having these problems? And if so, how do we approach it?

When I first discovered I had MTHFR, I was told it caused my miscarriage. The science behind it (lack of blood flow and clotting issues as well as improper folate levels for the growing baby) was enough for me- I needed to treat this. I have plenty of friends who couldn’t carry a pregnancy until they treated their MTHFR. And certainly, if you have a vitamin deficiency, you’re going to be healthier if you treat it. So I get that. I treated my MTHFR with b12, b6, l-methylfolate, baby aspirin and prenatals. There’s no doubt in my mind that treatment enabled me to carry Eli and Wyatt to full term.
But I guess my point about all the other conditions linked to MTHFR is that we have so many things linked to so many health issues these days.
We don’t eat food that is good for our bodies. We are exposed to pollutants and poison every day. We put trust in and value man made, chemically altered products.
So is it all MTHFR or is there something more?

On a personal level, I can only say this. What we put into our bodies and what we expose ourselves to is so important. In the face of genetics, I can still work to be as healthy as possible. This means supplements and healthier food choices. It means not beating myself up over MTHFR or thyroid function. It means not blaming these conditions which I couldn’t change, but rather treating as concerns arise. If I know it’s an issue, let’s tackle it and treat it. So do I know that MTHFR caused Wyatt’s dimple? Nope. Do I know that my boys may carry it or have it themselves? Yes. Is there something they can do to be healthier? Yes. So let’s do that instead of worry about what could be or could have been.
Being a mom is hard and scary enough.

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! 😉

32 Weeks

Hello 32 weeks!! The hubs is out of town so no new pictures today. I will update later this week. 🙂

I just got off the phone with my doctor’s PA, I love her so much!! I can’t believe the friendships I have developed as a result of our journey to becoming parents. God has such awesome plans!

Anyway, I got to run a few things by her.
-Dr. C won’t do a version should Eli stay breech.
-Dr. C doesn’t do VBAC’s if I wind up with a c-section.
-There are lots of methods to try to flip him before 36 weeks but the general consensus is that he won’t budge after that (still not willing to give up though).
-My new symptom of swollen fingers, arthritic joints and numbness is normal even if painful and annoying. (Stop worrying, Mom hehe)
-My fears of Eli “not responding” to loud noises are unfounded. All babies respond differently.
-My uterus is supposed to shrink back to its original size by 6 weeks postpartum!!! What the what?!

-MJ believes that it’s worth it to look into why 3 of the 4 women I work with have had some kind of difficulty or abnormality with their pregnancy. Did I not mention that? Yeah…my first pregnancy was anencephaly, my second is Ds. 2 other teachers hired at the same time last year (after the building remodel) are having issues now as well. One teacher lost her first pregnancy at 6 weeks for unknown reasons, now her second is in the hospital with unexplained brain injuries (story can be found at: thepaulfamilyjourney.blogspot.com).
The second teacher just lost her pregnancy at 22 weeks after all testing revealed severe deformities but no known chromosomal abnormalities.
A bit scary to consider that it’s just a strange coincidence…I don’t know. I mean, lots of teachers had their babies while at my school and 3 just had perfectly healthy babies last year.
I’m not sure what could even be done but MJ said, “don’t drink the water”. Lol

She also doesn’t believe that our first loss had much to do with MTHFR. I think it’s hard for me to agree with that because it’s easier to believe that’s what caused our loss.
The research overwhelmingly points to a link between pregnancy loss and MTHFR. Also, there seems to be zero links between Ds and any one factor.
I don’t know anymore. It doesn’t seem worth investigating except for when you consider the future of our family.

But I’ve covered that topic only a billion times. Lol
Anyway, it was nice to just visit with her. 🙂 I’m so lucky to have such great support with my OB and his office.

On another note, I think I’ve officially decided to take my maternity leave at 36 weeks. I’m not 100% sure yet but I think this will be an appropriate time. I am tired but I love my job so much! I want to do a good job at it and be my best for my kiddos. So we will see what happens. I’m going to discuss this with Dr. C next week and see what he thinks.

What else? Oh my birthday was a success!! It was a beautiful day and we ate in the park. Couldn’t ask for more. 🙂 really loved spending time with family and friends.
Now I’m most looking forward to my baby shower on Saturday! My mom is working super hard on it and I know its going to be wonderful!
My love language is gifts- it could literally be anything wrapped up and I would get excited. Hehe. So you can imagine how excited I was when I came home on Monday and saw some packages at my door. Eli is so so loved already and we are so blessed!

Speaking of the little guy, he’s been kicking up a storm tonight! He even hurt me a few times…guess I got what I was asking for after all. Lol

I guess that’s about it for now. Hope you are all having a great week! Thanks for reading!