Showing posts with label genetic screening. Show all posts
Showing posts with label genetic screening. Show all posts

Tuesday, 17 May 2016

Such a MTHFR

No... I'm not swearing. Okay I am a little bit. MTHFR if you haven't heard of it is a gene mutation, one that I so fortunately *insert eye roll* have homozygous... or at least that's what I recall being told (though would I have 2 abnormal copies for each mutation if that were the case... need to do more digging). If I am correct, that would mean both parents passed it on to me. Thanks mom and dad! jk... kind of ;)

MTHFR Deficiency
Gene: MTHFR
Mutation: c.1286A>C (p.E429A) (1 abnormal copy)
Mutation: c.665C>T (p.A222V) (1 abnormal copy)

I carry one copy of the E429A (also known as A1298C) mutation and one copy of the A222V (also known as C677T) mutation in the MTHFR gene. Off my report from recombine:
Females with one E429A and one A222V mutation have a 2-3 fold increased risk for having a child with neural tube defects, i.e. a 2 to 3 in 1000 risk instead of a 1 in 1000 risk. We discussed that MTHFR deficiency may also be associated with an increased risk for pregnancy loss [22313097]. It is recommended that women with MTHFR deficiency who are pregnant take folate supplements before and during their pregnancy to reduce the chance of NTDs. Folate supplementation is thought to decrease the risk of NTDs by approximately 80%.

Okay so what is it, why is it important and what can be done?
These are all things that I've been looking into recently. My RE put me on Metanx which I was taking during our last IVF but I since stopped. I mean, $75 a month out of pocket for something I didn't think I needed anymore. Well maybe I'm wrong and need to pick it up again...

I've been doing some reading and the info is really interesting. Here's a comprehensive video with the rundown. If you have MTHFR gene mutation its a must watch. Don't let your RE tell you it's no biggie.



http://wellnessmama.com/27148/mthfr-mutation/

Folic acid is man-made and synthetic (to avoid neural tube defects) - designed for long shelf life. Great for average population but NOT for someone with MTHFR (like me). It's not found in nature like Folate.

http://wellnessmama.com/12543/folic-acid-vs-folate/


Some conditions they cause are listed in this table below. I can confirm myself that I have the following: Infertility (obviously... that's why this blog exists y'all), Allergies, Insomnia, Chronic Fatigue Syndrome, Anxiety, ADD, and Immune Deficiency.




sciency peeps:
https://ghr.nlm.nih.gov/gene/MTHFR


Monday, 14 March 2016

Last 2 WW before IVF

Well t-minus about a week until we get underway with what I expect to be my last fresh IVF cycle. The nerves are full force, my emotions are all over the place, and prayers are high. I'm in the 2ww of my last natural cycle before we begin, and I find myself talking to the heavens... my belly... myself, wishing, hoping, praying, bargaining for some miracle so I don't have to go through all the injections and emotional turmoil of IVF again. Wouldn't that be nice!?

I follow my fertility clinic's page on Facebook, and perhaps the universe was answering me in a way... Nurse Linda did a video chat about the dreaded 2ww and embryo transfers etc. It was just what I needed to hear really. I highly suggest giving it a watch:


It calmed me ever so slightly. No way around it. The 2 week wait continues to suck... month after month and year after year. In an ideal world I'd know better, or better yet, have a crystal ball to tell me the outcome so I could just move on with my days, but that's far from the case.

Who knows... maybe I WILL get a positive. Maybe I WILL be that miracle story you hear. Weirder things have happened I suppose. I got my hopes up last month though, and I know it's just me trying to find an out from having to go through this whole song and dance again, avoiding the fear and pain that goes along with it. One more week... that's all I have to hold on to for now. Or, well, at least until the BIG 2ww after our embryo transfer next month.

So in other news, Homme InFertile and I have been selected for a Docu-Series that follows women throughout their pregnancy. There will be multiple various stories, but the idea is that we'd be the "infertility" story. I was really excited about the opportunity to share our story and break down some of the stigmas associated with infertility. We have a production call on Wednesday, and they're in talks with our clinic getting filming rights (which I anticipate will be difficult given the sensitivity of other patients etc). So I'm not sure how it will all pan out, but that's that! I'll keep you posted as things progress... I was totally upfront too that Homme InFertile lost his job and we don't know if we'll be staying in NY, and they still want to go ahead so looks good in that respect at least.

In the meantime a woman popped into our little online forum community at the bump and shared a promo teaser for a webseries she wrote/created and we had a good chuckle. Check it out! I found great comfort in laughing in the face of it all. I know it's certainly something we can all relate to, even if our responses aren't so candid in real life ;)



In terms of Homme InFertile... still no job. We have health coverage until the end of May, so can go through our full cycle... less sure about a frozen cycle directly following though if it were needed... shucks. In terms of where we'll go from here? Our first pick would be Victoria/Vancouver, which is where we grew up. Second pick is London as I can get an ancestry visa and we can both work. Could be another fun adventure. New York is looking less and less likely by the day. Who knows though!


Oh and almost forgot. I got my recombine genetic results back and am not a carrier for any of the 311 diseases screened for.. YAY! However, I am unfortunately unable to process/form folate and need to increase my folic acid intake substantially as I am a high high risk of a child with a neural tube defect. :( Not great news, but we'll forge on!

That's all for now. Tootaloo! ;)

Tuesday, 1 March 2016

Pap & Recombine Testing

So I had my pap done the other day. BOO. I hate paps, but I guess it's important or whatever ;) haha.
Anyways, it's never comfortable, but doc wanted to do an "extra thorough job" as he put it, and so it was a little extra painful. Boo again! But I'm glad he took it seriously and that we'll get that cleared and have no concerns (hopefully) moving forward.

Then I did a quick single vial of blood for recombine testing (a cake walk compared to the 10 vials I did recently). I'm not anticipating anything coming up, but I guess if it does it'll be good to know. Also if I come up as a carrier, Homme InFertile will have to go get tested too. If you're interested to know more this video is helpful. https://player.vimeo.com/video/130796319

Now onto the fun stuff...

So Homme InFertile lost his job. We know this. We've come to terms with this. But this left a big ole question mark in the baby making department. Do we continue with IVF? Do we hold off? Should we pay for Cobra to extend our coverage? Do we wait until we know what our future plans are and do it then?

Well we talked about it a lot and when push comes to shove, there's never a good time. Our coverage was extended, so we found out we can go ahead with treatment (phew), and all of our meds already arrived (phew again)... so we might as well just go for it right!?

That's what we decided anyway. So the plan as it stands right now is to just give it a shot with my next cycle. So that means starting stimms at the end of this month (March) Eek! When I say that, I get all butterflies and heart pounding. Crazy to be starting this journey again. I really am praying for a different outcome this time around, but the jaded side of me is hesitant to get so excited. The whole process is drumming up old emotions for sure.

Another thing I've been putting off... dun dun dunnnn... the dentist. Need to do that before our cycle. No fun, and I have a feeling I'm going to have to get a filling or two... When will all the poking and prodding end!? ...not anytime soon that's for sure!