Some Results are in!
Well it looks like there is more to the story as I should have expected. I know a lot of you do not want to hear me say again what has happened so I wont but you can guess! After it happened I finally suckered up and went and got my blood work done that the doctor had wanted me to do two months ago. She also referred me to see a Fertility Specialist. She had done all that she could and wanted me to go to higher help. I finally bit the bullet after fighting with myself for two months and made the phone call to see a Fertility Specialist. Very hard for me to do!
I got in right away. Such a blessing cause I dont think I could have waited for a long time. The doctor is a little Indian woman and she is very straight to the point. By the time she was done consulting Ryan and I she had a list of 8 things we needed to do and have the results back in to her before we see her on the 11th of June. I have some things that I have to do that I am not too excited about but at this point it is worth it.
I felt when we left the doctors office that finally someone has a plan for me and has expectations for me and wants to get to the bottom of things. I left last Thursday with my head trying to be held high.
The next morning I got a call from my OB. She wanted to call and see how the appointment went with the specialist and how I was doing. I have the BEST doctor! She then told me that I had some blood work results that came in today. I had thought everything was turned in but I was wrong. She then began to tell me that I had something come back ABNORMAL! For a split second I was relieved! I know that sounds funny but it was so nice to hear cause everything always comes back NORMAL! I then of course got nervous cause what did the ABNORMAL mean!?
She then told me that I was positive for Compound Heterozygous MTHFR gene mutation. MTHFR is a gene that makes a protein called methylenetetrahydrofolate reductase (now you see why we call it MTHFR). The MTHFR mutation is actually just a certain version of the gene.
It's extremely hard to explain. Basically it means my body doesn't absorb folic acid...but it's not that simple either.
***
Fortunately, most symptoms of MTHFR are surprisingly easy to treat. All it usually takes is some extra folic acid, and some common B vitamins.
We know that folic acid is important for all sorts of things. You’ve probably heard doctors tell women to take their folic acid and B vitamins when they are pregnant. Or even thinking about getting pregnant. Lots of our foods are now fortified with these vitamins too.
These B vitamins are recommended for the reasons we talked about before. Extra folic acid can help prevent miscarriages and protect developing babies from getting birth defects. And as I said, women with the MTHFR mutation need even more.
The MTHFR protein converts something called homocysteine into methionine. When MTHFR is not working properly you can get a buildup of homocysteine in the blood and not have enough methionine.
Folic acid fits into this because MTHFR doesn’t do its job alone. It needs to work with folic acid to turn homocysteine into methionine. This is actually why folic acid can help people with weak MTHFR. Extra folic acid pushes the reaction along so that the build up of homocysteine goes away.
OK, so having a weak MTHFR protein leads to an increase in homocysteine levels and a decrease in methionine. And both of these can lead to DNA damage in different ways .
One of the effects of increased homocysteine build up may be more lost pregnancies. One number I saw was that 21% of women with high homocysteine levels have recurrent pregnancy loss at very early stages! There are a couple of ideas out there for how high homocysteine levels might affect a pregnancy. There is some evidence that clots form more easily in these women’s blood. Too much clotting can lead to problems like cystic hygromas which are known to affect pregnancies.
Another possible consequence of high homocysteine levels is chromosomal problems. DNA is often thought of as unchanging but it is actually pretty dynamic. While the A, G, C, and TÂ’s rarely change, something called DNA methylation can change a lot.
DNA is decorated with little chemical groups called methyls. These methyl groups can affect whether a gene is turned on or off. They can also affect whether a chromosome goes to the right place when a cell divides.
The connection here is that high homocysteine levels decrease your pool of methyl groups. What this means is that there is less methyl around so your DNA might not get enough. What folic acid does is provide extra methyl groups to the pool.
This effects more then just fertility. A few of the symptoms are depression, anxiety & fatigue!!!! All of which I suffer from!!!!!! It can also cause other problems down the road like alzheimer's, problems with your heart, clotting disorders etc. Of course the symptoms all depend on what variation of MTHFR you have. One part of the info above says mine does it's job a "bit" less well then normal MTHFR then towards the bottom in "sevarity" it is in the middle so who really knows.
I am taking Prescription Prenatals, baby asprin ( to help with clotting, I have been on this since Nov) extra B6, B12, and 4mg of folic acid when the regular dose for a person is 400mcg, such a huge jump! After finding out this information I have felt excited, relieved, nervous, guided, and comforted. The specialist was a little upset with the treatment that I have had previous to moving here and thought I should have been seen a lot earlier and more things done. For a second I thought yes she is right but then realized..........Everything happens for a reason.......the steps that have brought me to this point have made me who I am.......I am stronger in my relationship with my heavenly father, stronger in my relationship with Ryan, stronger in my relationship with my parents and family, I found out about my back, and I have let others in and have learned that I dont have to carry things on my own, and how truly grateful I am for my friends! I have never felt so loved and supported and am so thankful! These past four and a half years have been what I have needed. Hard to admit for sure!
I dont know what the future holds just yet. I am still going to go through all the testing and rule out any other stuff. I feel like this is an answer to my prayers to "why" I can get pregnant but cant hold on to it. It really makes perfect sence. Folic Acid is so crucial to the begginning of pregnancy. When it comes to DNA and the defects that come with a deficiancy in Folic Acid, I have to be thankful for a wonderful working body that realized that things werent right and let it go. Hopefully in the near future I will have one be just right!
I got in right away. Such a blessing cause I dont think I could have waited for a long time. The doctor is a little Indian woman and she is very straight to the point. By the time she was done consulting Ryan and I she had a list of 8 things we needed to do and have the results back in to her before we see her on the 11th of June. I have some things that I have to do that I am not too excited about but at this point it is worth it.
I felt when we left the doctors office that finally someone has a plan for me and has expectations for me and wants to get to the bottom of things. I left last Thursday with my head trying to be held high.
The next morning I got a call from my OB. She wanted to call and see how the appointment went with the specialist and how I was doing. I have the BEST doctor! She then told me that I had some blood work results that came in today. I had thought everything was turned in but I was wrong. She then began to tell me that I had something come back ABNORMAL! For a split second I was relieved! I know that sounds funny but it was so nice to hear cause everything always comes back NORMAL! I then of course got nervous cause what did the ABNORMAL mean!?
She then told me that I was positive for Compound Heterozygous MTHFR gene mutation. MTHFR is a gene that makes a protein called methylenetetrahydrofolate reductase (now you see why we call it MTHFR). The MTHFR mutation is actually just a certain version of the gene.
It's extremely hard to explain. Basically it means my body doesn't absorb folic acid...but it's not that simple either.
***
Fortunately, most symptoms of MTHFR are surprisingly easy to treat. All it usually takes is some extra folic acid, and some common B vitamins.
We know that folic acid is important for all sorts of things. You’ve probably heard doctors tell women to take their folic acid and B vitamins when they are pregnant. Or even thinking about getting pregnant. Lots of our foods are now fortified with these vitamins too.
These B vitamins are recommended for the reasons we talked about before. Extra folic acid can help prevent miscarriages and protect developing babies from getting birth defects. And as I said, women with the MTHFR mutation need even more.
The MTHFR protein converts something called homocysteine into methionine. When MTHFR is not working properly you can get a buildup of homocysteine in the blood and not have enough methionine.
Folic acid fits into this because MTHFR doesn’t do its job alone. It needs to work with folic acid to turn homocysteine into methionine. This is actually why folic acid can help people with weak MTHFR. Extra folic acid pushes the reaction along so that the build up of homocysteine goes away.
OK, so having a weak MTHFR protein leads to an increase in homocysteine levels and a decrease in methionine. And both of these can lead to DNA damage in different ways .
One of the effects of increased homocysteine build up may be more lost pregnancies. One number I saw was that 21% of women with high homocysteine levels have recurrent pregnancy loss at very early stages! There are a couple of ideas out there for how high homocysteine levels might affect a pregnancy. There is some evidence that clots form more easily in these women’s blood. Too much clotting can lead to problems like cystic hygromas which are known to affect pregnancies.
Another possible consequence of high homocysteine levels is chromosomal problems. DNA is often thought of as unchanging but it is actually pretty dynamic. While the A, G, C, and TÂ’s rarely change, something called DNA methylation can change a lot.
DNA is decorated with little chemical groups called methyls. These methyl groups can affect whether a gene is turned on or off. They can also affect whether a chromosome goes to the right place when a cell divides.
The connection here is that high homocysteine levels decrease your pool of methyl groups. What this means is that there is less methyl around so your DNA might not get enough. What folic acid does is provide extra methyl groups to the pool.
This effects more then just fertility. A few of the symptoms are depression, anxiety & fatigue!!!! All of which I suffer from!!!!!! It can also cause other problems down the road like alzheimer's, problems with your heart, clotting disorders etc. Of course the symptoms all depend on what variation of MTHFR you have. One part of the info above says mine does it's job a "bit" less well then normal MTHFR then towards the bottom in "sevarity" it is in the middle so who really knows.
I am taking Prescription Prenatals, baby asprin ( to help with clotting, I have been on this since Nov) extra B6, B12, and 4mg of folic acid when the regular dose for a person is 400mcg, such a huge jump! After finding out this information I have felt excited, relieved, nervous, guided, and comforted. The specialist was a little upset with the treatment that I have had previous to moving here and thought I should have been seen a lot earlier and more things done. For a second I thought yes she is right but then realized..........Everything happens for a reason.......the steps that have brought me to this point have made me who I am.......I am stronger in my relationship with my heavenly father, stronger in my relationship with Ryan, stronger in my relationship with my parents and family, I found out about my back, and I have let others in and have learned that I dont have to carry things on my own, and how truly grateful I am for my friends! I have never felt so loved and supported and am so thankful! These past four and a half years have been what I have needed. Hard to admit for sure!
I dont know what the future holds just yet. I am still going to go through all the testing and rule out any other stuff. I feel like this is an answer to my prayers to "why" I can get pregnant but cant hold on to it. It really makes perfect sence. Folic Acid is so crucial to the begginning of pregnancy. When it comes to DNA and the defects that come with a deficiancy in Folic Acid, I have to be thankful for a wonderful working body that realized that things werent right and let it go. Hopefully in the near future I will have one be just right!
Comments
Love, Amber and Mike
You have a very good outlook on things especially considering how much you have had to go through and how long you have had to endure. I am glad that you feel like you are finally getting some answers. That must be frustating!!! Your doctors now seem very good and concerned with what you are going through. I hope this is the answer to what you ahve been looking for and wish the best for you. I love ya to death!
Love ya bunches and bunches!
Love and miss you so much!