Wednesday, April 27, 2005

MTHFR Factor

I am just amazed at how many women are having difficulties carrying pregnancies past the 5th and 6th weeks... and at how many doctors are NOT testing their patients for the MTHFR Factor.

As you've read in past issues, I was diagnosed with MTHFR Factor. The following is an excerpt (with a few changes) of an email I just sent out to a fellow infertile who was just diagnosed with MTHFR... Not to mention that much of this is verbatim from a previous blog entry of mine...

I just can't talk about it enough times to get the message out....

MTHFR is a genetic mutation. I have the homozygous scenario --Two of my genes (1 A and 1 C) are mutated, or broken, or whatever.

Here's how my doctor explained this to me... People with MTHFR factor don't produce folic acid, vitamin B6 and vitamin B12. So, wohoo ... one might think, big deal! But on the contrary, it IS a big deal! Women with MTHFR factor have spontaneous miscarriages between 5th and 6th weeks (uh, that would be me--4 of them), and a lack of B6 and B12 directly affects rapidly reproducing cells... and that would be what an embryo does. In fact, a lack of B6 and B12 causes rapidly reproducing cells to STOP reproducing. So, my doctor put me on a massive cocktail of Baby Aspirin, Folic Acid, Vitamin B6 and B12... and I do mean MASSIVE ... and -- WOW... what a difference! I got an instant jolt of energy, and come to find out, that's how I should have been feeling if I didn't have this MTHFR factor!

I take 2 milligrams of Folic Acid, 100 mg of B6, and 250 micrograms of B12. I also took (notice I say "took") a baby aspirin daily until I had a positive pregnancy test in February. Then, I only stopped the aspirin, but continued everything else. Surprisingly, my prenatal vitamin only had 1 milligram of Folic Acid, 3 milligrams of B6, and 8 micrograms of B12. That's nothing in comparison with what I take now!!! By the way... I take regular old over the counter vitamins. I could get a prescription for the Folic acid, but why bother. It's cheap enough.

I started this cocktail back in November. I had my next IVF transfer in January, and am now, for the first time in my life, carrying a healthy and happy baby. I'm 15 weeks pregnant. After 15 years (that's not a typo!) of non-stop trying to get pregnant with a ton of different doctors, I'm finally pregnant ... I just want to cry tears of joy each time I think of our baby, or see him or her on the ultrasound machine. My heart is overflowing with joy!

And ... I know, beyond a shadow of a doubt, that this diagnosis and corrective action (vitamin cocktail) is what my successful pregnancy is attributed to.

This has now become my new war cry... GET TESTED FOR MTHFR!!! Any time I hear that a woman has had multiple miscarriages by about the 5th or 6th week, red flags start flapping all over and I just have to share about my own experiences. MTHFR and PCOS have totally screwed with my ability to reproduce naturally. And, my doctor suspects that I had a lot more miscarriages that I wasn't even aware that I was having. Besides the spontaneous miscarriages, it also is the leading factor in coronary heart disease (which my dad has). Another reason to be tested.

Just remember ... It's not just the Folic Acid that is important ... B6 and B12 are also critical, critical, critical. Also, I'm pretty sure that because of the massive doses of B6 I'm taking, I didn't have any morning sickness... what a BONUS!

So what does it all boil down to? If you are an infertile, and you've been diagnosed with MTHFR Factor, You WILL GET PREGNANT and successfully carry a child if you follow the correct protocol. Of that I'm certain. I feel so grateful for my doctor at Shady Grove Fertility. I can't tell you how many times I've referred my fertility specialist (Dr. Melissa Esposito) to other women. She's outstanding, and without her, I wouldn't be pregnant right now. Even my OB agrees, and he doesn't work with her or in their office.

That's all for now!

25 Comments:

At 7:02 PM, Anonymous Anonymous said...

Thank you so much for your posting. I just got word that I probably have MTHFR (one gene mutated), and I also have PCOS. And I am 6 1/2 months pregnant. I never heard of MTHFR, but am now going to look into taking some extra folic acid and B vitamins.

 
At 2:10 PM, Anonymous Anonymous said...

It is very rewarding for you to have baby and have a doctor who helped you. Unfortunatley, I have had the displeasure of dealing with Dr. Melissa Espositto at the Shady Grove fertility clinic, and because I was of advanced age (40) and had never gotten pregnant (only tried for 6 months before seeing her), she quickly recommended donor egg to me. I had to fight to tell her that I wanted to at least try with my own eggs, I got pregant on my first IVF attempt but it was ectopic. She then forgot she performed the surgery where she removed the right tube and I had to remind her as she wanted me to do an IUI after my second attempt at IVF did not produce enough eggs. Her nursing staff continually gave me the wrong information, and well needless to say, I am happy things worked out for you but Dr. Espositto's treatment in regards to my case, was the worst ever. I also have to say because of the unfortunate results I encountered with Dr. Espositto, I would never, ever reommend anyone to her or any doctor who could forget that they performed and emergency surgery on a patient where they removed a fallapion tube three months after the procedure. She may be over worked, burned out, I do not know, but clearly she does not take the time to read a patients chart before walking into the exam room. In my opinon, and from my experience, she likes dealing with women who can give her good numbers for statistical purposes, and that to me, is not a caring doctor. Again, I am very happy for you, hopefully women reading this, will take all things into consideration when looking for a fertility doctor, I have been so tainted by my experience, I can not stomach dealing with any IVF clinic, my husband adn both have chosen to adopt instead.

 
At 11:10 PM, Anonymous Anonymous said...

I agree with anonymous. Dr. Esposito is okay for women who are younger and get pregnant fairly easily with IVF. If you are a harder case or are close to 40 she has no confidence in herself or you. There is definitely no thinking outside the box with her. I would never recommend her to anyone. Go to Levy.

 
At 12:05 PM, Blogger chicletj said...

My RE just reminded me that the MTHFR test was the only one that Kaiser didn't order for me before I started the clomid/iui saga this winter. Sooooooooo I am going to get that ordered pronto. I had no idea it was so common, could screw things up so badly,and could be treated so well!

 
At 5:35 PM, Anonymous Anonymous said...

Dear GiBee,
It was very inspirational reading your blog about your journey to having your son. We have a lot in common with one exception. I live in the east and graduated with a degree in accounting. I recently changed careers and I am working on becoming a nurse. I was also born in 1967 under the sign of Scorpio. I am married with no children. My husband and I have been trying to have a child for over 6 years. We have tried 3 IVFs, 4 IUIs, (and two surgeries to correct fibroid issues) with no success. We have spent so much money in these treatments. My last IVF was done two weeks ago and I recently received the devastating news that I was not pregnant. I have prayed hard so many years and have trusted in the Lord but I started getting despondent after this attempt, believing that God was not hearing me, he was not seeing my tears and feelings of agony. Reading your blog and seeing that you kept faith in the Lord for so many years has renewed my hope. I come from a praying family and being the trusting good person that I am, I could not understand why I had not gotten pregnant. Was God punishing me for something I did? Is this my burden to bear? I want to thank you for your blog because I know that God is faithful and he will hear my prayer. You are lucky to have a husband that stood by you through those difficult times.


Congratulations to you and your family. And say a pray for my husband and I that we also can be blessed with a beautiful, healthy baby.

 
At 10:03 PM, Anonymous Anonymous said...

Dr. John Wilcox at Huntington Reproductive Center also tests for MTHFR. He finds it is very important to rule out everything since his primary goal is to get you pregnant. This doctor is great and will is very honest, even though you may not like to hear the truth.

 
At 3:28 PM, Anonymous Anonymous said...

I planned on my first two pregnancies, so I took lots of folic acid. My last three pregnancies were unplanned and I took no folic acid. Needless to say, I had three miscarriages.

I recently was told I tested postive for the MTHFR and I also recently diagnosed myself with Celiac Disease. Celiac leave the body unable to process food properly and therefore leave the body deficient in vits and minerals....

May I suggest testing for Celiac if you have the MTHFR or if you have had several miscarriages.

I'm gratful for the posts I've read. I'm not alone!

 
At 10:15 PM, Blogger Newfitmommy said...

I've just been diagnosed with MTHFR (two gene mutations). Thanks for your blog! I needed to read some good news~!

 
At 1:18 PM, Anonymous Anonymous said...

Thank you for your post. I was diagnosed with pcos after my 2nd miscarriage and then diagnosed with MTHFR with a 2 gene variant after my 4th miscarriage. I couldn't figure out why I couldn't carry a baby past 5 1/2 weeks. My doctor is put me on progesterone. He also put me on metformin for the pcos, even though I am not IR. He now wants me to take heprin and a baby asprin with my next pregnancy for the MTHFR. I am going to ask about the extra vitamins because I keep reading that I need extra folis acid and vitamin B6 and B12. Hopefully my next pregnancy will be successful.

 
At 11:43 AM, Anonymous Anonymous said...

I had a still birth at 28 weeks. After that is when i was diagnosed with MTHFR. After the doctor told me the way to treat it, it made very upset because the death of my baby could of been prevented. I honestly think that the doctors should start testing for this at the beginning of any pregnancy. They draw blood for anything else that this should been another test they do and that way avoid a lot of losses to a lot more women.

 
At 5:30 PM, Blogger Annette said...

I have a 9 month old baby. My pregnancy was great!! My baby is a healthy baby like no other!! I had a minor stroke 3 months ago and my neurologist send for blood work. It came back testing positive for MTHFR. My hemotologist said that it was weird that i had a good pregnancy and no problems whatsoever. But now that they found out i have MTHFR that now i'm at high risk if i want to get pregnant again. any comments on this?????????????????

 
At 4:31 PM, Anonymous Anonymous said...

I too have MTHFR on 2 genes. My doctor (Dr. Nelson) at Huntington Reproductive did the blood work after I suffered 2 m/c at 6 weeks this year. He quickly put me on the baby aspirin, B6 & B12 vitamin combo called Folgard (5mg which is a high dose) even before I TTC. I was on it for 2 months before TTC. He started me on Lovenox shots right after my IUI to thin out my blood to avoid clotting around the fetus. I am not 7 weeks pregnant. I am going in for my first U/S tomorrow and we will see how things are going but I feel an amazing accomplishment that I surpassed the 6th week. I have been lucky that one of my friends was diagnosed with the same problem in early 2009. She was put on the same regimen that I am now on. She now has a beautiful healthy 2 month baby girl. If it wasn't for her success story and the stories on these blogs, I would not be as hopeful or positive at this moment. This is my first baby and I am hopeful that I will meet him/her in about 8 months. WIsh me luck and know that you are not alone out there!

 
At 10:25 PM, Anonymous Virginia Horn said...

I was diagnosed with 2 copies(both A) of MTHFR after genetic testing when my first child was born(after a year of trying- we were only 18- shouldn't have taken much to get pregnant!) Zach was born with multiple cognitive diabilities but is doing well with special schooling and therapy since he was 3 months old. I have never used birth control until after the birth of my second son- perfectly healthy(BECAUSE I WAS TAKING 4 MG FOLIC ACID PLUS B6 B12 AND PRENATALS!!!!) I am now thinking about trying for a 3rd baby- hoping for a girl!

 
At 1:52 PM, Anonymous Anonymous said...

I see Dr. Esposito and haven't had a lot of experience with her practice yet. I do feel that they are quite busy and I have to update them on my history when I see them. However, they did diagnosis me with 1 copy of the MTHFR a few months ago. I have had 2 m/c's both at 6 weeks (that was before I found out about my MTHFR). I am hoping for a success story, and all these extra pills I am taking will help with my IUI next month. Wish me luck!

 
At 5:23 AM, Anonymous Anonymous said...

I have been diagnosed with MTHFR -two gene mutations,a year ago right after my 1st miscarriage at 6weeks.I also have PCOS.I have been taking folic acid,vitabin B12+B6+B1and vitamin e (it helps blood thinning)for mare than 10 months now.Last November i got pregnant again and my waters broke at 16 weeks,so vitamins or not the result was the same for me...

 
At 5:28 AM, Anonymous Anonymous said...

oh!i forgot to mention that i was doing heprin shots daily,but still waters broke at week 16....

 
At 12:46 AM, Anonymous sara112481 said...

It seems "ironic" that a majority of woman with MTHFR also have PCOS. I also was just diagnosed with MTHFR (hetero) and have PCOS. I also have ulcerative colitis which causes many problems of its own, not to mention I have had numerous blood transfusions so I also have lots of antibodies in my blood. I have had one pregnancy about 4 years ago and miscarried but have not been able to get pregnant again. I hope that treating the MTHFR will help me to get pregnant as I dearly love children more than life itself. I wish everyone good luck!

 
At 10:31 AM, Anonymous Erin said...

Love your post, and I am so glad you are encouraging folks to get tested for this! I had a full panel done after my 2nd m/c and they found I was compound heterozygous MTHFR. Had I not ASKED for testing, I would not know. I just suffered my 3rd m/c and meet with the doc on Friday to discuss game plan. Folgard is already something I take and Ill be doing blood thinners the next time. Being informed is so important! I started a blog this week to help do the same! Thank you for doing this!

 
At 7:35 PM, Anonymous Anonymous said...

soo... my mom has this and she had a mis-miss carriage which is less than one percent of people get that and the baby my baby sister chloe died at almost 7and a half months..... it was real depressing and still is we cant get over it we even had the heartbeat thing which gave me and her an even closer connection with my only sibling... my baby sister anyway to get over it or help my mom is taking folic acid but cant take b6 or b12 bc it makes her light headed and she vomits. but congradulations hope its healthy

 
At 9:54 PM, OpenID waitingforthenugget said...

I'm glad to hear that you had a positive and happy outcome in the end!

I was diagnosed with one copy of the MTHFR C667T mutation. I told my regular doctor at my annual physical that my husband and I had just started trying to conceive, so she ran a more extensive blood panel. This revealed I was severely deficient in both B12 and D. My father has neropathy in his feet as a result of years of B12 deficiency going untreated. Even after your child bearing years - you may want to keep up with the supplements. My OB at the time suggested that I add additional Folic Acid to my vitamin regiment because "those deficient in B12 are often also deficient in Folic Acid."

After having not being able to get pregnant, my new OB tested for MTHFR and added baby aspirin and B6 to the cocktail.

How much did you take? I'm always interested in how much other doctors prescribe. I take 1000mg of B12 (my doctor said I could reduce this to 500mg), 3200mug of B6, and 200mg of B6 in addition to my prenatal vitamins.

 
At 8:22 PM, Anonymous Anonymous said...

MTHFR mutations mean that your body cannot convert folic acid into it's active form.

Yes that's right, folic acid doesn't do anything - it biologically inactive and must be converted into 5-methyl tetra hydra folate.

I suspect that I have a MTHFR problem due to personal and family history (plus I have never used birth control and my husband and I have been together for nearly 8 years, in just the last 18 months we are serious about having a baby).

I'm not bothering with the testing as I feel sooooo good taking the combo of active folate, active b6 and active b12. I cannot believe how much better my energy is and how calm I feel.

Both B6 and B12 are also inactive and must be converted into their active forms before use.

The theory most doctors adhere to is that if you throw in enough inactive folic acid that enough of it will be converted.

After much research I decided to take active folate.

I take Thorne Research MTHF capsules (active folate), Thorne Research pyridoxal-5-phosphate capsules (active b6) and Jarrow Formulas methyl B12 lozenges (active B12 lozenges that taste great!!). On top of this I also take vitamin D and a multi mineral to provide extra iodine, calcium, magnesium etc.

Good luck to everyone on their journey.

 
At 8:13 PM, Anonymous Anonymous said...

I agree with the previous poster. Folic acid not in L-methylfolate form does not get converted by our bodies. You can get a supplement that has the L-MF, B6, and B12 via an rx from your doc instead of the OTC synthetic stuff. There's Neevo, Metanx, and Deplin. Neevo is marketed for pregnant women, but is the same as the others. I need to take 5mg/day, so Neevo is just too darn small a dose for me.

I have PCOS, C766T homozygous MTHFR (the worst one to deal with per my don..yay me), and another genetic disorder. I lost my last one at 10 weeks because I listened to my OB when he took me off my L-MF and put me on the synthetic folic acid. This one that stuck on her own with no help died within 72 hours of stopping my Metanx. We will be trying IVF this year. Good luck ladies!!

 
At 6:48 PM, Blogger Terra Barbee said...

Okay it's great knowing I'm not the only one dealing with this... I have a story! I'm 38 years old and went through my first round of IVF after I spent years not getting pregnant naturally. I was pregnant my first round of IVF but unfortunately I had to terminate at 6 months due to kidneys not developing (Potters) autopsy confirmed all this. I was tested for Downs, Trisomy and other Genetic disorders but they came back negative and it turned out to be a very bad case of bad luck. Well during the long 3 month wait for autopsy results a specialist wanted to check my blood just in case: it comes back I have 2 copies of MTHFR and 4gvarient. So we are trying again next month with my frozen eggs except this time ill be put on a blood thinner. I'm also on folgard and prenatels now. So to sum it up the MTHFR is not linked to me loosing the baby to Potters in my case however it does explain why I had issues getting pregnant naturally. Arleast I finally have some answers! I only pray its not too late for me... I'm trying yo keep my spirit up and think positive since the doctor says my embryos look amazing. The crazy thing about all of this is that I agree doctors need to be testing for this more: why was I not tested the moment I told them for years I've struggled to get pregnant and everything else checked out... U would think that would send a flag ... Who knows?! Anyway to anyone struggling out there .. I feel your pain and I'm praying for good news next month. Keep the faith! (By the way: I've always struggled with add or inability to concentrate or focus: I think it's the lack of vitamins ... I feel so different since taking these)

 
At 6:49 PM, Blogger Terra Barbee said...

Okay it's great knowing I'm not the only one dealing with this... I have a story! I'm 38 years old and went through my first round of IVF after I spent years not getting pregnant naturally. I was pregnant my first round of IVF but unfortunately I had to terminate at 6 months due to kidneys not developing (Potters) autopsy confirmed all this. I was tested for Downs, Trisomy and other Genetic disorders but they came back negative and it turned out to be a very bad case of bad luck. Well during the long 3 month wait for autopsy results a specialist wanted to check my blood just in case: it comes back I have 2 copies of MTHFR and 4gvarient. So we are trying again next month with my frozen eggs except this time ill be put on a blood thinner. I'm also on folgard and prenatels now. So to sum it up the MTHFR is not linked to me loosing the baby to Potters in my case however it does explain why I had issues getting pregnant naturally. Arleast I finally have some answers! I only pray its not too late for me... I'm trying yo keep my spirit up and think positive since the doctor says my embryos look amazing. The crazy thing about all of this is that I agree doctors need to be testing for this more: why was I not tested the moment I told them for years I've struggled to get pregnant and everything else checked out... U would think that would send a flag ... Who knows?! Anyway to anyone struggling out there .. I feel your pain and I'm praying for good news next month. Keep the faith! (By the way: I've always struggled with add or inability to concentrate or focus: I think it's the lack of vitamins ... I feel so different since taking these)

 
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Talk soon.












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