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Forum: Recurrent Miscarriage and Pregnancy Loss

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  #1  
August 15th, 2006, 07:48 PM
EricaInOhio's Avatar Veteran
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So in my quest for answers another red flag has gone up. I tested positive for a genetic mutation in the gene that codes for an enzyme called MTHFR. Long story short it directly causes folic acid defiiency bc your body can't convert folic acid to the usable form and you also indirectly get a build up of a toxic compound call homocysteine in your blood. The condition causes blood clotting, heart disease, increased risk of neural tube defects, and miscarriage. I am on the next stage of testing. Since I have one normal copy and one mutant copy of the gene, they are testing my blood for high levels of homocysteine. If that comes back above normal I'll be treated with high levels of folic acid, extra B12, and maybe blood thinners. I've added some links to the sticky about causes and tests that cover more info on thrombophilic disorders with causes including:
Lupus anticoagulant
anticardiolipin
Factor V (FV) Leiden mutation
MTHFR mutations
and a few others

Has anyone else out there had this genetic mutation detected?
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  #2  
August 15th, 2006, 09:28 PM
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I actually have two copies of the gene mutation. I was diagnosed with it in March of 2005 and began taking high doses of folic acid and baby aspirin every day. During my last pg I took Foltx which is a combo of folic acid and a b-complex and continued taking my baby aspirin every day. Because of the folic acid deficiency I was concerned about spinal cord issues with the baby but he came out perfectly healthy. This mutation does not mean absolutely that you will m/c. I had a m/c last August, after starting the meds for it. But I also had a full term healthy baby right after that and we discovered that the mutation was not the cause of my 6 m/c's.
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  #3  
August 15th, 2006, 09:31 PM
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I don't have any info to add but I'm going through the testing right now for all of those conditions and more. I'm praying that things are fine but if they aren't I'm praying that they are treatable.

Keep us posted hun.
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  #4  
August 16th, 2006, 05:32 AM
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Quote:
I actually have two copies of the gene mutation. I was diagnosed with it in March of 2005 and began taking high doses of folic acid and baby aspirin every day. During my last pg I took Foltx which is a combo of folic acid and a b-complex and continued taking my baby aspirin every day. Because of the folic acid deficiency I was concerned about spinal cord issues with the baby but he came out perfectly healthy. This mutation does not mean absolutely that you will m/c. I had a m/c last August, after starting the meds for it. But I also had a full term healthy baby right after that and we discovered that the mutation was not the cause of my 6 m/c's.[/b]

Thank you for the info. I'm just wondering how you were able to determine that the MTHFR mutations were not responsible for your m/c's? Were they able to pin point another cause? Congratulations on your adorable baby boy!!!!!
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  #5  
August 16th, 2006, 09:00 AM
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I just had a second round of blood test done and my results came back positive for two copies of mthfr. My doctor referred me to a gentic counselor and said I would be able to ttc again with medical assistance. Right now I'm terrified and I don't know what to think. I know that its possible to still have a healthy pg and right now I'm trying not to dwell on this too much until I get more answers. It seems that baby aspirin is recommended but I'm allergic to aspirin. Does anyone know of any other medications that are given?
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  #6  
August 16th, 2006, 10:00 AM
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Don't freak!!! There's good news!!! This is treatable. Some people don't even go onto blood thinners at all because in theory if the problem is corrected with vitamins (Folic acid, B12, and B6), then you won't have the high levels of toxic homocysteine in your blood to cause the problem to begin with. The effectiveness of aspirin is very contriversial anyway and there are other blood thinners you can take during pregnancy if your doctor determines you need them. The biggest thing is to find out how high your homocysteine levels are (a result of the disfuctional enzyme) and to get them down to a normal level by taking excessive levels of Floic Acid and B12 (under your doctor's supervision of course) and rechecking the levels. The reason they are having you go to a genetic counselor is to explain to you that since you have 2 copies of the gene mutation you are garunteed to give one to your offspring. It is up to you if you want to have your husband tested to find out if her carries any copies of the mutation. Based on that they will tell you the statistical chances of you passing on 1 or 2 copies to a child. There is not a lot of information available about how passing this onto your child will affect them during pregnancy, but as a scientist myself I would suspect that as long as mom is being correctly treated and therefore carries adequate levels of the usable form of folic acid (this is what the enzyme is responsible for making) in her blood, then the baby shouldn't be affected during pregnancy regardless of his/her mutation status. It is something to make your pediatrician aware of because baby may need more vitamins at some point in their life to reduce the chances of heartdisease and bloodclots. This is a good question for a high risk OB/GYN. For myself the risk of passing this mutation to my child does not scare. We all have family histories of inherited predispositions to something (i.g. heart disease, stroke, diabetes, cancer). Unless you see a genetic couselor and have both parents genotyped, you wouldn't know what you are passing on. At least in this case I know what I might be passing on. I can have my children checked for it and the treatment is as simple as some extra vitamins. Personally, I will be releived if this turns out to be an explaination for my m/c's.

Sorry that was such a long explaination. Let me know if I can answer any other questions.
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  #7  
August 16th, 2006, 02:33 PM
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Quote:
Quote:
I actually have two copies of the gene mutation. I was diagnosed with it in March of 2005 and began taking high doses of folic acid and baby aspirin every day. During my last pg I took Foltx which is a combo of folic acid and a b-complex and continued taking my baby aspirin every day. Because of the folic acid deficiency I was concerned about spinal cord issues with the baby but he came out perfectly healthy. This mutation does not mean absolutely that you will m/c. I had a m/c last August, after starting the meds for it. But I also had a full term healthy baby right after that and we discovered that the mutation was not the cause of my 6 m/c's.[/b]

Thank you for the info. I'm just wondering how you were able to determine that the MTHFR mutations were not responsible for your m/c's? Were they able to pin point another cause? Congratulations on your adorable baby boy!!!!!
[/b]
All of the pathology on my m/cs came back that there were no problems with the babies. I lost 7 babies in total, 6 pregnancies and they were able to send 4 in for pathology. I had a D&C last August after my last m/c and during the surgery my OB discovered a uterine septum which he was able to remove. I was pregnant again just 10 weeks later and had no problems with it. I was closely monitored by my OB and I also saw a perinatologist. My OB believes that because there were no problems with the babies, it must have been due to the septum. Especially because of the full term pg following removal of the septum. I didn't even have any problems with my folic acid. I did however take extra just to be sure
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  #8  
August 16th, 2006, 06:40 PM
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Wow! I'm glad that they found that problem and you were able to have a healthy baby. I can't imagine enduring that many m/c's. I've tried to figure out how many I can handle before I will stop TTC. I hope I don't have to find that out. #2 was so much more difficult for me than #1 because we had detected a heartbeat and everything. That's what makes me think it is a problem with me not the baby, but there's no way to know since we didn't do any genetic analysis. I'm just hoping for a diagnosis that can be treated. I take comfort in the fact that we all have the same desire for answers as to why this keeps happening. I've never wanted a condition so bad in my life as I want homocystinuria. My biggest fear is that my homocysteine levels will come back normal and then I'll still be left without any answers.
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  #9  
August 18th, 2006, 04:31 PM
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Quote:
I've never wanted a condition so bad in my life as I want homocystinuria. My biggest fear is that my homocysteine levels will come back normal and then I'll still be left without any answers.[/b]
I've had that same problem, since my initial test came back with an abnormal result but the second one was normal, and the doctor decided that I was fine. It's hard not having any answers.
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  #10  
August 21st, 2006, 11:21 AM
EricaInOhio's Avatar Veteran
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Well, my homocysteine level came back normal so the MTHFR mutation isn't to blame. I haven't talked to the doctor, but I doubt she run any more tests until I've had a third. My first m/c was typical for a chromosomal problem (very early), but with the 2nd being after a detectable heartbeat that's what makes me worried. Well nothing I can do, but start TTC agian nest month and hope the next one sticks.
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  #11  
August 21st, 2006, 07:50 PM
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Good luck to you. It really is tough to have no answers, but I keep trying to remember that no answers are probably better than a diagnosis. It's also hard (at least for me) once a red flag has been raised to discount it if later the doctor says its okay. I get into second guessing, which never does any good.
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