I'll try to make this as short as possible. After 2 losses, my doctor ordered bloodwork. Fast forward three weeks, and the triage nurse called me this morning to tell me this:
1. I tested positive for the MTHFR gene mutation C677t. 2. I also showed abnormalities consistent with an autoimmune disorder. 3. The doctor wants to do a "whole bunch more tests", but that I can't go in until 7 days after an LH surge (my cycle hasn't even returned yet). 4. The triage nurse has no idea what the majority of these tests even are, as she has never heard of most of them. 5. My doctor won't see me until after results from the second workup come back.
So...naturally, I decided to Internet. The internet tells me this: 1. MTHFR causes birth defects that range anywhere from cleft pallet to severe physical and cognitive defects that likely cannot sustain life. 2. This genetic mutation is likely also the cause of the depression, anxiety, chronic fatigue, and digestive issues I've dealt with my whole life. 3. Because of my body's inability to flush out toxins, I'm likely going to get liver cancer.
My doctor has told me next to nothing. I'm freaking out. Does anyone have experience with this? How serious is it, really? Should I be calling another doctor or something?
I don't know about any of this at all. I think someone else on the board has MTHFR. I wish I could help give you some answers and calm your mind. I will offer lots and lots of penguin hugs to you.
Post by thechickencoop on Jan 8, 2016 15:17:49 GMT -5
{{hugs}} I don't know anything about the testing but, I don't know, have you considered switching doctors? I would definitely be upset and stressed with the lack of communication it seems that you're having with your doctor.
Post by notagoddess on Jan 8, 2016 15:21:58 GMT -5
Wow, that is a lot to be facing. I'm so sorry you're dealing with all of this. Can you call the doctor back asking for a phone conversation at least, to let you know what these results mean and what the other tests will be? Many hugs to you, lady.
{{hugs}} I don't know anything about the testing but, I don't know, have you considered switching doctors? I would definitely be upset and stressed with the lack of communication it seems that you're having with your doctor.
Hang in there girl.
I'm thinking about it. I live in a city where some of the best genetics and fertility doctors in the country hold their practice. I had been going to a local doctor who I really like, but I'm thinking it may be time to switch. The extra 35ish mile drive will be worth it to know I'm in good hands. I just want to make sure I'm not freaking out prematurely or overreacting before I call another doctor.
So sorry you're dealing with this. Don't listen to google, most of that is blown out of proportion and also, since you only have the one mutation and not two, it's a lot less severe. You'll want to get the blood clotting tests done to make sure those come out fine and taking a baby aspirin during any future pregnancy might help. But the most important thing is that the mutation messes with your ability to absorb folic acid. So avoiding folic acid and taking supplements with folate instead will drastically improve outcomes.
It's really not as big of a deal as a google search would make it seem. I know it's overwhelming now, but I promise it's minor. Your doctor might suggest high dose folic acid supplements because that's what's (until recently) been thought to help, but you need folate and NOT folic acid. There are several ladies on CAL that are also dealing with this, so that might be a good place to ask as well.
As for the testing, it's probably just a lot of RPL testing. I remember a lot of mine had to be done at 7dpo and since I was getting some then I just got most of them done then.
{{hugs}} I don't know anything about the testing but, I don't know, have you considered switching doctors? I would definitely be upset and stressed with the lack of communication it seems that you're having with your doctor.
Hang in there girl.
I'm thinking about it. I live in a city where some of the best genetics and fertility doctors in the country hold their practice. I had been going to a local doctor who I really like, but I'm thinking it may be time to switch. The extra 35ish mile drive will be worth it to know I'm in good hands. I just want to make sure I'm not freaking out prematurely or overreacting before I call another doctor.
Switching doctors is not freaking out, don't ever think that. You have to be comfortable with your healthcare provider and "be your own advocate". Find someone who can actually take the time to answer your questions so you understand what is going on with your body.
Post by madamewaffles on Jan 8, 2016 15:33:06 GMT -5
I am so sorry about all of this. ::hugs:: I don't have any advice, but there are some ladies over in 3T/IF that have the MTHFR mutation. I bet they'd be welcoming to any questions. I hope you get some answers and some further clarification from your doctor.
akraus2015 just stepping in to send a hug and second what the other ladies have said. Try not to get sucked down the Dr. Google wormhole, but it's always ok to get a new doc or opinion at least. You need to feel comfortable with what they're telling you!
TTC since July 2014. CP March 2015. IVF #1 March 2016, 5R, 3M, 2F with ICSI. Transferred 2 on day 3. CP. Surprise BFP and then CP August 2016 (prep cycle for IVF). IVF #2: zero eggs retrieved IVF #3: 6R, 5M, 5F, 3 (2 8A and 1 11A) transferred, one "B" graded embryo frozen on day 5. BFP (at home 7dp3dt, confirmed 14dp3dt with 1552 beta) and U/S at 5w5d, 2 sacs and 2 yolks!
akraus2015 , I'm so sorry to hear about this and the horrible way the doctor handled it. It would not be freaking out to consider a new doctor who is willing to talk to you and actually explain all these things that can be really scary if you don't have a proper explanation.
As PP have said, there are other boards that may have ladies who are in the same boat and can provide you with guidance. All I can give is a big squishy internet pug hug.
Post by DanaScullyX on Jan 8, 2016 15:57:40 GMT -5
***lurking***
akraus2015 , do not freak out. After three losses, I tested positive for MTHFR. Turns out, knowing that result has been the reason my current pregnancy has lasted. My doctor put me on baby aspirin, and as @led mentioned, the main effect is the body's inability to process folic acid correctly, even when taking high doses and prenatals. In addition to the baby aspirin, I am on a prescription for Folate. It is a tiny pill, and it has enabled me to remain pregnant with a totally healthy baby girl. I will also mention that I had low progesterone, so asking for supplements to take after O each cycle you TTC may not be a bad idea.
akraus2015, I'm sorry you are dealing with this. I'm a recurrent loser, seeing a recurrent pregnancy loss specialist, and she didn't even bother to test me for a MTHFR variant. 40% of Caucasians carry one copy of the variant. She actually called all the MTHFR testing 'silly.'
She explained to me that that doctors should be more interested in the level of homocysteine. Elevated homocysteine has been shown to be a factor in miscarriage. High levels of homocysteine has been shown to be caused by a deficiency of B vitamins and folate. Individuals with two copies of MTHFR variant have an impaired ability to process folate, which can lead to high levels of homocysteine, which can cause miscarriages. So she tests for homocysteine, NOT MTHFR, as 40% of Caucasians are going to test positive anyway, but have none of the ill effects.
However, if you are unhappy with your doctor and feel like he can't treat you with a reasonable level of confidence, you absolutely should try to find another doctor.
There is a RPL check-in on 3T with a document that includes and explains some the RPL testing if you want to figure out what the other tests might be.
So sorry you're dealing with this. Don't listen to google, most of that is blown out of proportion and also, since you only have the one mutation and not two, it's a lot less severe. You'll want to get the blood clotting tests done to make sure those come out fine and taking a baby aspirin during any future pregnancy might help. But the most important thing is that the mutation messes with your ability to absorb folic acid. So avoiding folic acid and taking supplements with folate instead will drastically improve outcomes.
It's really not as big of a deal as a google search would make it seem. I know it's overwhelming now, but I promise it's minor. Your doctor might suggest high dose folic acid supplements because that's what's (until recently) been thought to help, but you need folate and NOT folic acid. There are several ladies on CAL that are also dealing with this, so that might be a good place to ask as well.
As for the testing, it's probably just a lot of RPL testing. I remember a lot of mine had to be done at 7dpo and since I was getting some then I just got most of them done then.
Thank you. I really needed to hear this. I really do not want liver cancer. Also I would love to believe that I can still try for a baby.
akraus2015 , I'm so sorry to hear about this and the horrible way the doctor handled it. It would not be freaking out to consider a new doctor who is willing to talk to you and actually explain all these things that can be really scary if you don't have a proper explanation.
As PP have said, there are other boards that may have ladies who are in the same boat and can provide you with guidance. All I can give is a big squishy internet pug hug.
akraus2015 , do not freak out. After three losses, I tested positive for MTHFR. Turns out, knowing that result has been the reason my current pregnancy has lasted. My doctor put me on baby aspirin, and as @led mentioned, the main effect is the body's inability to process folic acid correctly, even when taking high doses and prenatals. In addition to the baby aspirin, I am on a prescription for Folate. It is a tiny pill, and it has enabled me to remain pregnant with a totally healthy baby girl. I will also mention that I had low progesterone, so asking for supplements to take after O each cycle you TTC may not be a bad idea.
This is not a big deal, stay away from Google!!!
Feel free to PM me anytime.
Thank you so much. I feel like the information you and @led gave me is what my doctor should have given me 7 hours ago.
so many hugs. And as PP stated please find another doctor if you arent comfortable with the care you are receiving. I would be pissed if I couldn't talk tp my doctor after hearing all that.
Engaged May 2003 Married June 2005 TTC #1 since October 2014 H-1% morph, low motility, low count Me-.1 AMH levels, low AFC, DOR/POI, perimenopause Foster Care journey begins March 2016-licensed 11/7/16 Foster parents to A & J 1/31/17 www.fertilityfriend.com/home/5525ef
akraus2015, I'm sorry you are dealing with this. I'm a recurrent loser, seeing a recurrent pregnancy loss specialist, and she didn't even bother to test me for a MTHFR variant. 40% of Caucasians carry one copy of the variant. She actually called all the MTHFR testing 'silly.'
She explained to me that that doctors should be more interested in the level of homocysteine. Elevated homocysteine has been shown to be a factor in miscarriage. High levels of homocysteine has been shown to be caused by a deficiency of B vitamins and folate. Individuals with two copies of MTHFR variant have an impaired ability to process folate, which can lead to high levels of homocysteine, which can cause miscarriages. So she tests for homocysteine, NOT MTHFR, as 40% of Caucasians are going to test positive anyway, but have none of the ill effects.
However, if you are unhappy with your doctor and feel like he can't treat you with a reasonable level of confidence, you absolutely should try to find another doctor.
There is a RPL check-in on 3T with a document that includes and explains some the RPL testing if you want to figure out what the other tests might be.
Thank you. This is all very overwhelming. I lurked 3T for a bit today and that also really overwhelmed me. If you happen to see that check in or know when it is posted, would you mind tagging me?
Post by macaronmama on Jan 8, 2016 16:26:20 GMT -5
Lots of hugs and a cup of tea for you, akraus2015. Glad there are some ladies here that know more about MTHFR, but your doctor shouldn't have left you with so little information, that is really hard to deal with. Hoping you are able to have a nice weekend in spite of this and get some answers soon.
::hugs:: I can only tell you what C677T means literally (a cysteine has become a threonine at amino acid residue 677 in this protein sequence).
I'm sorry your doctor isn't tell you much. Doctors tend to under-react, which is great when you're sitting in front of them, but notsomuch when dealing with new information and no contact.
akraus2015 , I'm so sorry to hear about this and the horrible way the doctor handled it. It would not be freaking out to consider a new doctor who is willing to talk to you and actually explain all these things that can be really scary if you don't have a proper explanation.
As PP have said, there are other boards that may have ladies who are in the same boat and can provide you with guidance. All I can give is a big squishy internet pug hug.
That dog!!! Soooo cute! Is he yours??
I wish! That is random internet pug thanks to Google search
::hugs:: I can only tell you what C677T means literally (a cysteine has become a threonine at amino acid residue 677 in this protein sequence).
I'm sorry your doctor isn't tell you much. Doctors tend to under-react, which is great when you're sitting in front of them, but notsomuch when dealing with new information and no contact.
Silly joy, you know I can't science! Although I am definitely saving this post so I can memorize that sentence and sound really smart when I finally talk to my doctor!!
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