MTHFR

Mary Beth - posted on 06/15/2009 ( 14 moms have responded )

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Anyone here know of it? I was diagnosed at 8wks pregnant. Now I have a beautiful baby girl thanks to an excellent OB/GYN and a LOT of shots and pills. (totally worth it!) I just wanted to know if there was anyone here that their kids had it too. I am thinking of having my daughter tested. Any comments or opinions?

THANKS!

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Deborah - posted on 07/21/2009

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My son has 2 copies of the MTHFR gene, and I have one copy. We both also have 1 copy of the Factor V Leiden mutation. I didn't find out any of this until my son got a blood clot shortly after birth (at which point he started lots of shots, and now he's on coumadin). I'm now pregnant w/ #2 now and the doctors have me on aspirin therapy (1 baby aspirin per day). Hopefully she will have better genetic luck than my son did. It's not hard to be tested (though it can be expensive - you may want to make sure your insurance will cover it) ... it's just a blood test. It's always nice to avoid blood tests for babies if you don't need to have them done, but if she's going to be stuck anyway it's not hard for them to take an extra vial of blood (this could depend on how old she is, when they tested my son at first they did a few tests at a time so they didn't take too much blood at once). My son's hematologist told us that the real risk with MTHFR was him having unusual Homocysteine levels, so if they're going to test for MTHFR and find one or more copies they may need to do additional tests. On the plus side, it's very rare for little ones to develop blood clots, and the hematologists/doctors I've talked to say that MTHFR is more of a risk for pregnant women than babies right now - unless the baby also has abnormal Homocysteine levels too (but they keep doing additional research, and they don't have a lot of cases with babies to generate solid statistical evidence one way or the other). Hope this helps... I was given an article or 2 on it when my son was diagnosed ... but there's not much out there on MTHFR since it's relatively new ...

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Jackie - posted on 05/06/2012

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I just read your post. There is a law that your insurance cannot go up because of genetic testing. check it out.... Good luck!

Mary Beth - posted on 01/24/2011

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Good info Jackie, I never knew about the nitrous oxide issue. I am compound heterozygous so my kiddo has chances, but who knows if she'll actually have it. I want to get her dad tested too. The only problem is that it makes our insurance rates jump. I think we will do like you have and wait until my DD is a little older and needs the testing.
Best Wishes!

Jackie - posted on 01/24/2011

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I know this is really late to post, but my daughter is 11 and I just had her tested for MTHFR and Factor V - she is the same as me, MTHFR - homozygous and Factor V is hetero. I had her tested because that's about the age that our ped. recommended. Also, some research showed that if you are homo for MTHFR, you shouldn't have nitrous oxide...not sure if it's true, but she has some dental work coming up and I wanted to know for sure. Now, because she has the homo for MTHFR, my husband is going to be tested....and so goes the snowball effect!

Mary Beth - posted on 10/08/2009

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we went and saw a pedi hematologist and she said she would test her for anything I wanted, however the more tests for hemo problems that her father and I had would limit the number of sticks to my daughter. So we are working on a few of those as insurance and money permits. Also, she said that the way that the American health care system might be undergoing some changes soon and you dont want her excluded by a 'preexisting' condition. she did however suggest having her tested before she got to be a teenager and had the chance to get on hormonal pills. She also said that with her family history that she would reccomend if she did have any type of surgery then a dose of blood thinners wouldn't be out of the question. So, for now Im satisfied with testing myself and having a pediatric hematologist back us up if we ever come to the point of needing thinners. :o) Congrats on your new little one that is coming!

Deborah - posted on 10/08/2009

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FYI, I am pregnant now (due 11/09) so I've been thinking about this for my daughter to be born... so I asked the hematologist what they recommended... they told me NOT to get her tested unless she shows signs of a clot, or if she's going to go in for some sort of procedure (like a central line, or something else that carries a risk of clots). They said we should wait until there's a reason to test for it (i.e., she's pregnant, thinking about starting birth control pills, etc.). Did you decide to wait on the tests?

Mary Beth - posted on 07/27/2009

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The insurance that we have now will pay 100% as long as we are in network. BCBS has a pretty big network.

I remember the full work up. I counted the vials...there were 11!

I guess I will try a hemotologist. My OB was the one that found the MTHFR. He found out how my dad had passed and that he was only 50 and suspected Factor V. that was negative, but it popped up positive on the MTHFR. Hubby's family has some clotting history, but no one is tested.

Deborah - posted on 07/27/2009

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My experience is that GPs don't know about hematology... but if you have a hematologist (or your perinatologist or whoever found out about your MTHFR), they can recommend the tests for your hubby to take, and you can bring it to his GP to get the tests done. But, it might be easier to just have him have a consult with a Hematologist. But, a full hematological work up is ~ 10-12 vials of blood (and it was about $100 after my insurance covering 90% of the cost), so you could start by just testing for the MTHFR. The ins. co. may not cover a full hematological workup unless there's some sort of family history, too.

Mary Beth - posted on 07/27/2009

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I wonder what type of doctor would I send my hubby to, to get tested? A hemotologist or just the family GP. I'm afraid If I send him to just any old doc..they will look at me like I'm crazy because he has no personal history and then wont do it. My husband isn't against it, but has pretty much put it in my hands if I want it to happen I have to make the appt and all that.

Deborah - posted on 07/24/2009

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I hear you. I kind of want to have my husband tested, too, but he's not so interested in it. We really didn't have any major clotting issues in my family before Zach, so it was really a shock. I expect that I will have my future baby girl tested at some point, but I may wait until she's older so that she's used to having blood taken, and we can possibly explain what the test is for. I know they do a lot of newborn screening testing, and I might find a supplemental testing company that tests for MTHFR and Factor V Leiden right after she's born. I think it makes sense to test her before you schedule any major surgery, but you may not have time to get the results back if it's unexpected (they might just put her on the blood thinners as a precaution in that case). I just know that it can be tough to take blood from little ones, and it's pretty unlikely that she'll need her appendix or gallbladder out any time soon.

My son sees Dr. Leslie Raffini in the Hematology Dept. at CHOP (Childrens Hospital of Philadelphia). She might also be able to recommend someone closer to you ... at one point we thought we were moving to N. Dakota and they recommended someone at the Mayo Clinic (can't remember who). But, when my son was in the NICU just diagnosed with his blood clot, they talked about maybe flying him to canada to see a specialist (how's that for a little far!). So, if you've gotten to 6 months without anything horrible happening, you're already in good shape.

Mary Beth - posted on 07/24/2009

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Emilee is about to be 6 months old. :o) I know that clots are rare with infants (TYGOD!). This my first baby and I feel clueless about so much already. I would like to have her dad tested too...just for knowledge. His family is high on the blood clotting issues too. My dad actually passed away at age 50 in 2006. He had had surgery 2 months prior and was on Heprin 2x daily and still had a massive pulmonary embolism happen. As far as surgery goes, I'm more concerned with the unexpected kind (appendix, gallbladder..ect.) throughout life. I don't want to be sitting in a waiting room when she's 15 wondering if I passed on MTHFR to her and if she needs to be on thinners while recovering. I'm just a nut I guess. ;o)

We are in Dallas,Tx so I think that your doc maybe a little far. LOL! BUT if you know of one this way then feel free to send it to me!

Deborah - posted on 07/23/2009

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you can always wait until she's a LITTLE older (not sure how old she is now) ... BC pills won't be an issue for many years, and clotting in infants IS pretty rare (so is surgery unless there's other factors going on). You could wait until she's 2 or older and tack it onto another set of tests...but, the pediatric hematologist should be able to help talk through it with you, too. Ours is in Philadelphia at CHOP (she specializes in clots in infants) ... if you ever need a second opinion, let me know and I can give you her contact number. And thanks for the well wishes, so good so far w/ me (I'm pretty sure I'm like you, I have one C and one A gene).

Mary Beth - posted on 07/22/2009

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Thanks. I know the tests ARE expensive! Even with insurance I paid $200 for them. Right now we have insurance that would cover it 100%. The reson for wanting the test now is partly for the $$ coverage, but also to help us and her in the future make wise choices about her health. (surgery/bc pills ect.) I guess I'm more worried about making her go through the stick if she doesn't have to. I have C677t and A1298c mutations and my husband is unknown. I think I just might make the appt with a pediatric hemotologist. Our pediatrician gave us a number but I havent called yet. I was trying to gather a little information so I went in with a clue. :o)

Thanks for your info. Hope all goes well with your new baby!

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