MTHFR And Other Clotting Disorders New Thread

316 Replies
stefkay - April 21

beebee, I only have the one and mine is only heterozygous (MTHFR), I think it is less likely to have multiple ones though. I read somewhere that 44% of women have MTHFR so it really may not be that problematic in the heterozygous (1 mutation) form, it is the double mutation or homozygous that is less prevalent and more problematic.

 

Jessicab3 - April 21

Yeah its pretty uncommen to have more than one. About 6% have 2 mthfr mutations and only 2% have the Factor II mutation. So basically I'm a genetic freak =P with like a 0.1% chance of having the 3 I have.... So, BEEBEE & CLOUD9 were you ttcing this month? Dh and I have decided to start trying next month so we have a couple more weeks yet before my next cycle starts.

 

cloud9climber - April 21

Hi girls, I didn't visit for a week or so and come back to all the replies! Awesome! Trevorsmommy - so very sorry for your loss. I think I recognize you from the nest. Jessicab3 we weren't trying this month because my husband was out of town. I thought we *might* have a chance but our timing was off. I'm seeing a rheumatologist and a reproductive endocrinologist next week. I'll give a full report back. I'm still on all the vitamins and of course the elephant dose of folic acid. Should get AF within the next few days and hope to conceive in May! How are you doing?

 

cloud9climber - April 21

p.s. I'm a freak to jessica - I have 2 MTHFR mutations and ANA. Lucky me!! (note:sarcasm)

 

Jessicab3 - April 21

Cloud9, lol, yeah us freaks need to stick together... I'm doing pretty good, looking forward to May too. Hopefully it will be a lucky month for the both of us : )

 

cloud9climber - April 22

Hey Jessicab3! So my new RE appt. is on May 5th. I decided to go with a pretty well known doctor in Los Angeles. He got one of my friends pregnant (they just had twins) so I'm hoping he can help my next little one "stick". Third times the charm right? I go to the rheumatologist on April 30th. So I should have a plan of attack very soon. Should be O'ing around May 8th or so. Fingers crossed for both of us!

 

Jessicab3 - April 24

Cloud9, sounds like a good plan. An RE is a great idea and I truely believe a good doctor can make all the difference.... BeeBee, how are you doing?.... Anyone else out there with a blood clotting disorder ttcing or currently pregnant?

 

htf - May 1

Hello everyone. I am new to this group but am hoping to find some guidance. We lost our first pregnancy in December 2007. It was a blighted ovum. We weren't trying to get pregnant so I was not on a prenatal at the time of conception or until I got the pos hpt. We planned our second pregnancy and found out in mid-March that we were pregnant. At 8 weeks I had major bleeding and fluid loss so we headed to the ER. For the first time, we saw our baby and the heartbeat. We were expecting the worst and were so blessed to see this. Unfortunately, the baby was 2 weeks behind in growth size. 2 weeks later, a follow up ultrasound showed that the heartbeat had stopped and we now have two angels in heaven. The day of my second D&C (two weeks ago today) we received an email from my aunt. Apparently all of my aunts have MTHFR (4 are hetero and two are homozygous) and 5 of my 6 female cousins have MTHFR (3 hetero and 2 homozygous). I go to my OB next Thursday for a follow up from the D&C and will talk to him about this then. Obviously there is a good possibility that I have MTHFR but I am even more inclined to think so because of how my 2 miscarriages happened. Without any folic acid or vitamin boost on the first pregnancy, it was almost an immediate loss. When I was on the prenatal for almost 5 months, we were able to carry a baby a few weeks farther but then we lost that one too. I feel like it would explain a lot if I have MTHFR. I tend to get really intimidated and frazzled in a doctor's office so I am trying to come up with a list of questions and a list of things that I want him to check. Can those of you already dx with MTHFR help me in understanding what I should make sure he tests for and other things that might be useful for me to know? Thank you and to those of you who have angel babies, we are very blessed in a special way :)

 

Jessicab3 - May 1

Wow, I'm so surprised all your aunts and cousins even know they have the gene. Why did they all get tested? When I told my family about the gene they were like huh? whats that? If I were you I would surf the net and find info on MTHFR, print it out, and bring it to your doc. That way you are armed with the info. As to the other testing. Just google "blood clotting disorders" and find a list of all the genes. Some of the ones I can think of off the top of my head are Factor II Prothrombin, Factor V Leiden (FVL), Protein C or S deficiencies. There are also antibodies from autoimmune disorders that can increase blood clotting factors as well such as Lupus that could be tested for. Most OBs though know what to test for, its just a matter of convincing them you need it and getting your insurance to cover it. Usually they don't offer the testing unless you have had 3 m/c's since that is when insurance will kick in. But since you obviously have a family history of MTHFR you should have no problem with insurance on that one. Another option is to have your homocysteine (hc) levels checked, but there is still a lot of contoversy over if the hc levels cause the m/c or the hc levels rise because of the m/c. So a lot of docs don't seem to bother with that one. The standard treatment for MTHFR is extra B vitamins (5mg folic acid, 100mg B6, 1000mcg B12) and a baby aspirin. In some cases of repeated m/c's or if the MTHFR gene is accompanied by other genes then daily heparin (Lovenox) injections during the entire pregnancy is the next route. .... Well, I hope that helps you a little : ) ~Jessica

 

htf - May 1

My aunt was dx with MTHFR about 25 years ago. She had two m/c before they figured it out. She has 5 sisters so they were all checked when they started having babies. As for my cousins- 3 of the 6 who have had babies are her daughters so they knew about it from their mom and got tested right away. The 4th and 5th cousin found out after having 1 m/c and my aunt told them about it and told them to get tested. I am not entirely sure why she waited for me to have TWO m/c before she decided to share this info with me. In my opinion, every woman in my family should know about this up front so they are tested before they lose several babies. Anyhow- I think I will do just what you suggest. Surf the net and print things out. I am nervous that my Dr. will be the type to not know about it and therefore try to disregard it. That is why I want to know exactly what I need to ask for so I am not relying on him to cover all the bases. I don't have a whole lot of faith in this guy as you can tell. If I do test positive, I am going to get a referral to a hematologist and then try to find an OB who has experience with MTHFR and has a reptuation of treating it the way I want mine treated.

 

cloud9climber - May 1

Hey jessicab3! I went to see the rheumatologist yesterday and he said there are lots of women like us - some with full b__wn lupus that go on to have several healthy pregnancies. He took a ton of samples and I go back for all the results on May 8th. My RE appt is pushed to the 12th so that I can get all the blood work results from the Rheumatologist. Good news - both doctors know and have worked with each other before so that's great! I'll update here after my appt. on the 8th. Hope you're well!

 

cloud9climber - May 1

htf, so sorry for your losses. Now that you know - you can do something about it. It feels really good to take charge of your health. Makes me feel proactive. Hope everything works out for you! Keep us updated!

 

cloud9climber - May 1

p.s. I would go straight to a reproductive endocrinologist. Good luck!

 

Jessicab3 - May 1

Cloud9 thanks for checking in, I'm glad you had a good appt. I'm doing good here, waiting for af which should be here this weekend and then we will be officially ttcing. If you would like to join a ttc support group I have one going at cafemom, specifically for ladies who are ttcing after a loss. Just find me at cafemom if you are interested, I have the same screenname there (Jessicab3) htf, I agree with cloud9 if you aren't happy with your doc's answers at your next appt. seek out and find a new doc right away. The right doc can make all the difference.

 

htf - May 1

Thank you for your advice. I go next Thursday to my OB and will request all the tests. I am not sure how long it will take to get the results but I hope to have some answers in the next few weeks. Not knowing has been hard so we are really ready to get the tests and start moving forward. We'd love to try again later this summer.

 

cubbie - May 5

Hi, hope you don't mind me joining you, I'm pretty confused here, I have 2 daughters and 2 angels, (one between my 2 girls at 21weeks and one 3 months ago at 5 weeks) I did all the tests a few years ago as my dad has bloodclotts and takes bloodthinners and so I was advised not to go on the pill without testing, so all the testing came back negative. Anyway my obgyn sent me to retest after this 2nd missed mc and today I met with the perinatologist - I am already 6 weeks pregnant. Anyway she went through the tests that I did 6 years ago and said that I'm neg for all the genetic ones but she'll retest for 2 that are not genetic as they could change, but she wants me to start on the lovenox now (I've been taking asprin up till now) as it will be another month before we get the ressults, then here's the bit that confuses me... she said that even if they come back neg she wants me to keep doing the lovenox injections until 6 weeks after labor and then all future pregnancies. Why would I need to do that if all tests show neg?

 

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