It's Official - I'm Defective! MTHFR

[heatherv2]

Since I lost my Junior kind of far along (16 weeks) my doctor decided to do a whole bunch of blood tests to see if I have any disorders that might have caused it. We are still waiting on some of the results, but my MTHFR test came back abnormal. Apparently I have 2 mutated genes or something, and it can cause congenital problems, neural tube problems, clotting problems and miscarriage. Once the results from the rest of the tests come back, I will have an appointment with a specialist who will be able to come up with a plan for what I need to do next time I get pregnant so hopefully it will have a better outcome. It sucks, but at least now I have an explanation for why I probably lost my baby.

 

[rcl2105]

im so sorry, dont know what to say but didnt want to read and run. hope the specialist can come up with something when your results come back. good luck x

 

[NatoPMT]

Hi H, sorry to hear about your mc

thats really good they've identified an issue this early, that means they can get on with treating you - i assume you will have 5mg of folate and the aspirin, but i gues syour specialist knows better than me.

my sister has something similar and needed steroids. her first pregnancy ended after they discovered the baby had severe spina bifida, but she has now got 3 children after having highly monitored (but successful!!) subsequent pregnancies.

i know it doesnt help with your loss, but the future will look very different.

 

[heatherv2]

I am hoping the treatment will just be extra folate and low dose aspirin, but we won't know until we see the specialist. The rest of the test results should come back in about 2 weeks, and that is when we will have that appointment. I just hope the treatment isn't going to include daily shots of Heparin like I have read about on the internet. I would hate to have to give myself shots every day, but if it meant a healthy baby I would not hesitate to do it! It is good to know the problem. I think I will be less scared that it will happen again during my next pregnancy since I should have a treatment.

 

[hoping:)]

I have MTHFR too... so If you ever want to talk I'm here
Right now I am on extra folic acid, B6, b12 and a baby asprin each day. Once I get a I start daily injections of Lovenox, but like you said anything for a healthy baby

 

[heatherv2]

Ok, I had to look up Lovenox because I had only read about Heparin. Looks like they're pretty much the same thing. I freaked out a bit when the Dr told me about the MTHFR, but after learning more about it I really don't think it's as scary. It sounds like the treatments are really successful. Lots of baby dust to all of you!

 

[sugrplum]

Hi, I also have this as well as 2 clotting other disorders. I took lovenox my last pregnancy and let me tell you there is nothing to worry about. You get used to it within a week, and if your SO can give you the shots it's that much easier. Unfortunately I lost my baby even with the treatment, though it seems to have been unrelated, most likely cromosomal. I wish you luck in the future and remember knowing is half the battle

 

[heatherv2]

It's good to know the injections are no big deal. Haha I just freak a bit about needles sometimes. Haha Of course, as much blood as they have taken from me at the Dr's office lately, I should have no problem with them! I'm sorry to hear that you lost your baby even with the treatment. Hopefully things will turn out better for you next time. Actually, hopefully things will turn out better for all of us next time!

 

[NatoPMT]

have you had the rest of your rest of your results yet heather? when's your specialist appointment? i wanna know whats going on <nosyface>

 

[padbrat]

Hey Heather, I have a chromosomal problem, one of my X chromosome has a translocation which can cause problems for a male baby, but I have been told my geneticist that it will not cause me to m/c...

The care I have had from genetics has been fab and I hope you have the same great care x

 

[Tasha]

I am sorry sweetie

 

[heatherv2]

The rest of the tests aren't back yet unfortunately. It's only been a week, and they said it would take a couple of weeks. Of course last time they said it would take a couple of weeks and it took 4 weeks, so who knows how long it will be! Haha I wanna know what's going on too!

Padbrat - What kind of problems can it cause for a male baby? Hopefully it is treatable!

 

[padbrat]

Hi heather. For me if it was a male baby it could be small and have very bad learning problems, like autism, but quite severe. It is not treatable, but will only occur if the make baby inherits my bad X chromosome and not my good one...

Did you say your tests took 4 weeks? It is just that I am m/c at the mo and the hospital said they would test us to see what was wrong as this is my third.

 

[heatherv2]

Wow, fingers crossed that if you have a boy he gets your good chromosome!

I am so sorry you are MC! I have only lost one, I can't imagine what it must be like to lose 3. Hopefully they will be able to figure out what is causing it. My Dr actually told me that they usually don't do these tests until after 2 or 3 losses, but since my loss was 2nd tri instead of first, there was more likely to be a problem with me that caused it. Yes, it took 4 weeks to get the results. I was getting really impatient by the time they got back. And the reason we have to wait for more tests now is because the lab said that for some of the tests that had been sent with the first batch, there wasn't enough plasma to run them so they needed more. They just didn't bother to tell my Dr's office until they sent the other ones back. We were so irritated! So I had to go back and have blood drawn again for those tests and that's what we're waiting on now. I think all the waiting is worth it, though, because knowing about a potential problem and treating it will hopefully make a future MC less likely.

 

[padbrat]

Heather I am pleased you are at least getting some answers and I am so sorry you lost your baby so far on.

This will be my 4th baby I have lost as my last m/c was twins. They took 6 phials of blood last night when I had to go to A&E... though unfortunatley the British NHS don't seems to be so proactive... because it is a bank holiday I got sent home to m/c on my own with some codeine. And no answers... no idea why they took so much blood as no one bothered to tell me...

I hope your test shed some light on any potential problems for you and you can have a healthy baby.

 

[Amos2009]

HeatherV- I hope you don't mind me bringing up this old thread. I have just been diagnosed with the same thing and I am waiting to see what the docs say we need to do. My last appt they seemed to think this was no big deal and didn't even give me a plan as what to do when I get another BFP.
Since you are now pregnant, can I ask what your treatment has been?