C677T and A1298C Mutation just Detected in my 12 yr old...Please Help me understand

Kennedy · 07-08-2009, 10:16 PM

Hello to all My name is Tara and I am the mother of a 12 year daughter named Kennedy. I just found out today that she had tested positive for both the C677T and A1298C Mutation. She is away at camp untill the 20th and will undergo more testing upon her return. Me, her father and her maternal grandmother will all also be tested prior to her return. I am totally freaking out right now and hoping that you all can use your knowledge to help me to understand to the fullest before her return. Quick history I myself had no issues conceiving her or carrying her (born may 1997)... after her birth i went on the depo shot for 4 years, and never had a cycle ( I was put on multiple different birth control pills to try to shock my cycle back) and then after another 4-41/2 years (in which time I pretty much had given up) while still never of having a period I became pregnant in Jan. 2006 amd had a healthy baby boy 9/28/2006. Now upon reading some of the forums on here I have started to realize a few other things.... I had blood clots in my legs during both of my pregnancies.
So i guess I should be asking some questions.... first off... Is it ok for me to post here? I fully respect this site and all on here, I understand that my 12 yr old does not exactly fall into any of these catagories as of this moment but I would like to start today will any and all precautions and/or looking into pre-treatment suggestions and above all to be informed of any and all information that can be offered to me.
I have been hysterical all day, as my heart is completly broken for my daughter just at the thought that she will have any difficulties in conceiving and/or carrying a child, but as I was reading some of the forums, I think that in some way this could be a blessing in disquise. Being that we know now when the time comes for her (hopefully at least 10 years from now) we will be able to treat from the beggining, and she will not have to go thru any unfortunate pregnancies without the knowledge. So if anyone has any suggestions for me, please tell me. Any and all is very apprreciated. Pre-treatments??? Genetic counseling?? Regular counseling to prepare her?? Do I tell her??

SWOhoney · 07-24-2009, 01:08 PM

Hi. I'm sorry about the recent diagnosis. I am compound hetero just like your daughter (positive for the C677T and A1298C mutations, one copy of each). I had 3 early miscarriages (all before the 10th week) and did not find out about this mutation until I was tested during my 3rd loss. I was told by a reproductive immunologist in Washington DC that I will need to take baby aspirin and metanx (a B vitamin combo of folate, B6 and B12) for the rest of my life. The A1298C mutation is not really a cause for concern (at least that is what my doctor told me) But the C677T mutation is the one that harmful. It prevents your body from properly metabolizing folic acid and if folic acid is missing from the system this can cause the homocystein level to increase which can cause blood clots. With my most recent and current pregnancy, I am happy to report that the baby aspirin, metanx and a special prenatal vitamin called Neevo, have enabled me to maintain this pregnancy so far. I am currently 15+ weeks pregnant. To be frank, this was a controversial topic - some doctors told me that there was no cause for concern at all if my homocysteine levels were normal, others told me that they don't even test for MTHFR anymore and they just check homocystein levels, it wasn't until I got to Dr. A in DC that she took it a little more serious and put me on my current protocol. So you may find some controversy along the road. What I can best recomend is that you make sure your duaghter gets plenty of folic acid and baby aspirin once she enters her reproductive year. Good luck.

Cece

Kennedy · 07-24-2009, 02:27 PM

Cece,
Thank you so much for your input. I was beggining to think no one was going to respond. I want to start off by saying congrats on the current pregnancy and that I wish you all the best and will keep you in my prayers.
I totally understand what you are talking about with the controversy and doctors not thinking it is a big deal. I've talked to my mothers cariologist who has never heard of it, a vascular surgeon who said that it is nothing to worry about, the ped doc said the same thing and even a child physchologist, who I spoke to on what, when and how I should make her aware of this...She told me not to tell her. what??? Ever??? or should I wait untill after she experiences the heartbreak of losing a child...Obviously none of this is acceptable to me. If there is anything positive that I can get out of this, it is that I learned this very early and will get to prepare her for the possibility and hopefully with help and meds prevent any tragedies. I am being tested Auguest 4th to see if I am the carrier, I had two healthy pregnancies but did get blood clots in my legs during both of them (which were written off as too much blood and caused by pregnancy) but I will not give up untill someone tells me what I want to hear. I understand that we can not predict the future but I will take whatever precautions that need to be taken. A baby asprin a day seems like a very small price to pay, to protect your child. And further more... the heath concerns outside of the infertility issues concern me no matter how minor or rare. I'm sorry I'm babbling on and on. But thanks again and best wishes. I will continue to do all that I can to prevent this diagnosis from ever being an issue if it doesn't need to be.

SWOhoney · 07-24-2009, 03:52 PM

I happen to bu lurking here for something else, but glad I was able to help. I think the main problem with this is that it is fairly new and not very well known. On a positive note, your daughter is heterozygous, which presents a lot less risk then those who are homozygous for the C gene (carry 2 copies of the C677T gene). Normally those individuals have to take blood thinners during pregnancy because of the increased risk of blood clotting. I can't believe someone told you not to tell her!! A lot of my suffering could have been prevented so much sooner had I known earlier, not only that, it explained a lot of other issues, such as my migraines, fatigue etc... I am so much more energetic now that I'm on B vitamins and my headaches are minimal since I started taking aspirin. If I have a daughter I plan on getting her tested and if shes a carrier will tell her once she's a teenager. Feel free to email me anytime, i did a lot of research on this and have more info if you need it.

Cece

txmastiff · 02-28-2010, 11:26 PM

I too have found out that I'm positive for one copy of the C677T and A1298C mutation. My hematologist said I had nothing to worry about. I have had 4 wonderful children. I have never had a problem with blood clotting. However, I do have a daughter and I will have her tested and inform her of the situation since she is now 24. I had no idea that it could cause problems with childbirth. Try not to worry as I had no problems at all.

07-08-2009, 10:16 PM	#1 (permalink)
Kennedy 0-99 post 2 of hearts Join Date: Jul 2009 Location: Tampa Florida Posts: 2	C677T and A1298C Mutation just Detected in my 12 yr old...Please Help me understand Hello to all My name is Tara and I am the mother of a 12 year daughter named Kennedy. I just found out today that she had tested positive for both the C677T and A1298C Mutation. She is away at camp untill the 20th and will undergo more testing upon her return. Me, her father and her maternal grandmother will all also be tested prior to her return. I am totally freaking out right now and hoping that you all can use your knowledge to help me to understand to the fullest before her return. Quick history I myself had no issues conceiving her or carrying her (born may 1997)... after her birth i went on the depo shot for 4 years, and never had a cycle ( I was put on multiple different birth control pills to try to shock my cycle back) and then after another 4-41/2 years (in which time I pretty much had given up) while still never of having a period I became pregnant in Jan. 2006 amd had a healthy baby boy 9/28/2006. Now upon reading some of the forums on here I have started to realize a few other things.... I had blood clots in my legs during both of my pregnancies. So i guess I should be asking some questions.... first off... Is it ok for me to post here? I fully respect this site and all on here, I understand that my 12 yr old does not exactly fall into any of these catagories as of this moment but I would like to start today will any and all precautions and/or looking into pre-treatment suggestions and above all to be informed of any and all information that can be offered to me. I have been hysterical all day, as my heart is completly broken for my daughter just at the thought that she will have any difficulties in conceiving and/or carrying a child, but as I was reading some of the forums, I think that in some way this could be a blessing in disquise. Being that we know now when the time comes for her (hopefully at least 10 years from now) we will be able to treat from the beggining, and she will not have to go thru any unfortunate pregnancies without the knowledge. So if anyone has any suggestions for me, please tell me. Any and all is very apprreciated. Pre-treatments??? Genetic counseling?? Regular counseling to prepare her?? Do I tell her??

07-24-2009, 02:27 PM	#3 (permalink)
Kennedy 0-99 post 2 of hearts Join Date: Jul 2009 Location: Tampa Florida Posts: 2	Cece, Thank you so much for your input. I was beggining to think no one was going to respond. I want to start off by saying congrats on the current pregnancy and that I wish you all the best and will keep you in my prayers. I totally understand what you are talking about with the controversy and doctors not thinking it is a big deal. I've talked to my mothers cariologist who has never heard of it, a vascular surgeon who said that it is nothing to worry about, the ped doc said the same thing and even a child physchologist, who I spoke to on what, when and how I should make her aware of this...She told me not to tell her. what??? Ever??? or should I wait untill after she experiences the heartbreak of losing a child...Obviously none of this is acceptable to me. If there is anything positive that I can get out of this, it is that I learned this very early and will get to prepare her for the possibility and hopefully with help and meds prevent any tragedies. I am being tested Auguest 4th to see if I am the carrier, I had two healthy pregnancies but did get blood clots in my legs during both of them (which were written off as too much blood and caused by pregnancy) but I will not give up untill someone tells me what I want to hear. I understand that we can not predict the future but I will take whatever precautions that need to be taken. A baby asprin a day seems like a very small price to pay, to protect your child. And further more... the heath concerns outside of the infertility issues concern me no matter how minor or rare. I'm sorry I'm babbling on and on. But thanks again and best wishes. I will continue to do all that I can to prevent this diagnosis from ever being an issue if it doesn't need to be. Last edited by Kennedy; 07-24-2009 at 02:29 PM.

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07-24-2009, 01:08 PM	#2 (permalink)
SWOhoney 600-699 post 8 of hearts Join Date: Oct 2008 Location: Washington, DC Posts: 639	Hi. I'm sorry about the recent diagnosis. I am compound hetero just like your daughter (positive for the C677T and A1298C mutations, one copy of each). I had 3 early miscarriages (all before the 10th week) and did not find out about this mutation until I was tested during my 3rd loss. I was told by a reproductive immunologist in Washington DC that I will need to take baby aspirin and metanx (a B vitamin combo of folate, B6 and B12) for the rest of my life. The A1298C mutation is not really a cause for concern (at least that is what my doctor told me) But the C677T mutation is the one that harmful. It prevents your body from properly metabolizing folic acid and if folic acid is missing from the system this can cause the homocystein level to increase which can cause blood clots. With my most recent and current pregnancy, I am happy to report that the baby aspirin, metanx and a special prenatal vitamin called Neevo, have enabled me to maintain this pregnancy so far. I am currently 15+ weeks pregnant. To be frank, this was a controversial topic - some doctors told me that there was no cause for concern at all if my homocysteine levels were normal, others told me that they don't even test for MTHFR anymore and they just check homocystein levels, it wasn't until I got to Dr. A in DC that she took it a little more serious and put me on my current protocol. So you may find some controversy along the road. What I can best recomend is that you make sure your duaghter gets plenty of folic acid and baby aspirin once she enters her reproductive year. Good luck. Cece

07-24-2009, 03:52 PM	#4 (permalink)
SWOhoney 600-699 post 8 of hearts Join Date: Oct 2008 Location: Washington, DC Posts: 639	I happen to bu lurking here for something else, but glad I was able to help. I think the main problem with this is that it is fairly new and not very well known. On a positive note, your daughter is heterozygous, which presents a lot less risk then those who are homozygous for the C gene (carry 2 copies of the C677T gene). Normally those individuals have to take blood thinners during pregnancy because of the increased risk of blood clotting. I can't believe someone told you not to tell her!! A lot of my suffering could have been prevented so much sooner had I known earlier, not only that, it explained a lot of other issues, such as my migraines, fatigue etc... I am so much more energetic now that I'm on B vitamins and my headaches are minimal since I started taking aspirin. If I have a daughter I plan on getting her tested and if shes a carrier will tell her once she's a teenager. Feel free to email me anytime, i did a lot of research on this and have more info if you need it. Cece

02-28-2010, 11:26 PM	#5 (permalink)
txmastiff 0-99 post 2 of hearts Join Date: Feb 2010 Location: texas Posts: 1	I too have found out that I'm positive for one copy of the C677T and A1298C mutation. My hematologist said I had nothing to worry about. I have had 4 wonderful children. I have never had a problem with blood clotting. However, I do have a daughter and I will have her tested and inform her of the situation since she is now 24. I had no idea that it could cause problems with childbirth. Try not to worry as I had no problems at all.