Thal Minor AND C677T Mutation

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Offline JenaS

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Thal Minor AND C677T Mutation
« on: October 14, 2009, 06:41:46 PM »
Hello All,
I'm new here and have found a lot of wonderful information, thank you all for sharing.

I have a question though... I have known my whole life that I have Thal Minor.  However, after having 2 miscarriages (16 yrs after a normal perfect pregnancy) and switching doctors, I was informed that I also have a C677T mutation.  Since finding out I have miscarried 2 more times.

I'm currently pg again... and praying I will not lose my 5, consecutive child... in 1.5 years. 

TTC has been the most horrific painful experiences of my life... I'm determined to have another child though.


I'm wondering if anyone has both the Thal Minor and C677T mutation.

I just don't know what to do anymore, and so this pg I've settled with doing nothing.  When I was PG with my daughter, I did nothing, I took no vitamins, no prenatals, no baby aspirin, nothing.  The PG was honestly... perfect.

When I was PG with my first after her, I didn't know (I had experienced 6+ yrs of unexplained infertility and had just made an appt to see a specialist when I found out I was already PG), so I didn't take any prenatals, etc.  I started taking prenatals when I found out, and within roughly two weeks, the baby passed away.  I was between 10 - 12 wks pg at the time. 
With my 2nd, I waited several weeks after I found out to start taking prenatals, and within several weeks of taking them, the baby passed away.  I was 8 wks pg that time.
With my 3rd... I had a huge cyst on my left ovary which popped, sending me to the floor in pain, and I ovulated on CD8 (way earlier than normal)... that baby never made it to the heartbeat stage, and showed signed of abnormalities from the first u/s (I had an u/s at 6 weeks - empty gestational sac, u/s at 7 wks - sac with enlarged abnormal yolk sac, u/s at 8 wks - normal yolk sac, smaller gestational sac, u/s at 10 wks, fetal pole w/o heartbeat, no yolk sack... m/c at 11 wks).
With my 4th... I took my prenatals, I took my folic acid, I took my baby aspirin all from the first day of my cycle.  That baby never made it to the yolk sac stage.  I had a blighted ovum.

With this 5th, I'm obviously afraid to take any kind of meds/vitamins at all.  I refuse to make an appt until I reach the 2nd tri, because there hasn't been anything the dr can do to save my PGs and I'd rather feel happy knowing I'm PG then stressed about whether or not there's a heartbeat, or a fetal pole, and then living with the sadness and disappointment for many weeks to m/c after finding out there's not.  (I have never done a D & C and never will, I always let go naturally)  I'm not even keeping track of how far along I am.. I have a group of girls doing that for me. 

I don't really feel any symptoms of my Thal minor.  I don't feel tired normally, when I get PG I do start to experience moments of tiredness... but... I'm PG, it's a normal symptom. 

I'm just not sure if I'm handling this PG correctly or not.  My instinct tells me to do what I'm doing, and carry on stress/worry free.  But I'm an over-thinker and now I'm afraid that it's not my usual accurate and strong female intuition, but instead my own insecurities due to so many losses after so many years of infertility...

Any opinions, advice, support, uplifting stories of encouragement??? 

 :(

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Offline Narendra

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Re: Thal Minor AND C677T Mutation
« Reply #1 on: October 14, 2009, 07:08:55 PM »
Hello Jena,

I think you are the first person we have on the site with C677T mutation.

There have been many thal(minor)s who have complained about miscarriages. You can read some of the post at http://www.thalassemiapatientsandfriends.com/index.php?topic=3041.0

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Offline Andy Battaglia

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Re: Thal Minor AND C677T Mutation
« Reply #2 on: October 14, 2009, 07:34:23 PM »
Hi Jena,

Talk to your doctor about the hypercoagulable state that exists in thalassemia and is known as the cause of miscarriage in thal major, and from the very high amount of miscarriages reported here from thal minors, is the most likely cause of miscarriage in minors also. This creates clotting problems between the uterus and placenta, leading to a lack of blood to the fetus, resulting in miscarriage. Your doctor may have some suggestions on how to prevent this and it may be something as simple as taking as aspirin each day. Please, regardless of your previous experience, take 5 mg folic acid daily and 400 IU natural vitamin E daily.
Andy

All we are saying is give thals a chance.

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Offline JenaS

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Re: Thal Minor AND C677T Mutation
« Reply #3 on: October 15, 2009, 01:00:33 PM »
My Dr.'s suggestion was to take 1 baby aspirin a day, so that is what I've done. 

The problem is... aside from that and the special prenatals he's prescribed me (Neevo), and the additional folic acid, there's not much else he feels he can do.

After my 4th M/C he basically said "I don't feel like I can help you." and implied I need to just see a specialist about IVF. 

I've done the special prenatals, extra folic acid, baby aspirin, and I continued to m/c anyway.  4 in less than 1.5 yrs.  Let me tell ya... it's a very very hard thing to go through, and it's especially difficult for me after 6+ yrs of infertility.

Apparently the C677T mutation has to do with the breakdown of folic acid to the folate form... and causes clotting at the point where nutrients transfer between me and baby... which I guess is doubled by the Thal minor. 

I want to talk to a specialist... someone, if that person even exists, who KNOWS and UNDERSTANDS the situation with having both of the conditions.  It's either a Dr. that knows about Thal or a Dr. that knows about C677T mutation, but not both.  There are Thal websites, and C677T websites, but not both.

I feel so aggravated.  It's bad enough to have ONE condition that causes these issues, but I have TWO different conditions that pretty much cause the same complications. 

I don't know what specialist would know detailed information about both conditions.  Any ideas? 

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Offline Sproutsmama

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Re: Thal Minor AND C677T Mutation
« Reply #4 on: October 15, 2009, 01:15:57 PM »
Hello JenaS -

Welcome to this site.  I am also a fairly new member.

Although I do not have a C677T mutation (not that I'm aware of anyway) I have had quite similar experiences recently.

Please read my thread titled, Thal Minor and Recurrent Miscarriages, and feel free to contact me or continue posting on your thread - I'm at work today but can check in frequently.

Since I joined this site and have learned a lot about Thal Minor, I have been taking 5mg of folic acid daily plus extra B12 - I see my OB tomorrow to discuss next steps.

I firmly believe there's an answer out there for us - it may take a lot of research on our own, but don't give up!

Elizabeth

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Offline thalfriend

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Re: Thal Minor AND C677T Mutation
« Reply #5 on: October 15, 2009, 10:47:50 PM »
Dear JenaS,

How did you find out that you had this mutation?  I live in a city where there are no thalassemia centers, and it was progress to even get a blood test ordered for beta globin [not alpha globin or other beta scenarios]. 

I am sorry to hear about what you are going through.

Sincerely, Thalfriend

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Offline Bigg

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Re: Thal Minor AND C677T Mutation
« Reply #6 on: October 16, 2009, 08:10:24 AM »
Vitamin E and omega-3 are supposed to be blood thinners too...
So I guess you have to look for yourself, how these two genetic problems interact with each other. Or find two doctors specialized in these matters and put together what they say... Not an easy thing to do...
But this is nothing new - I had to look for myself, I also have two problems.
I would start by checking if all the tests are done - usually done to diagnose both of these problems separately.
You probably know that thalassemia minor is not considered a disease, so there is possibility that not everything was done correctly... The same applies to this C667M mutation - it is quite rare (right?), so you have to check if everything was done correctly (or rather done at all)...

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Offline JenaS

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Re: Thal Minor AND C677T Mutation
« Reply #7 on: October 22, 2009, 03:20:18 PM »
Hi all,

Sorry to disappear for a couple of days... I am NOT feeling well.  Lol.  I have never experienced morning sickness before, and this one is letting me know exactly what I've been missing out on.  Lol.

To answer the question regarding how I found out about the C677T mutation.

After my 2nd m/c I switched doctors.  He reviewed my records/labs from my previous Dr and saw something on one of the labs he wanted to further investigate.  So he reordered me a specific blood test.  Which was called MTFHR Dna test.  Which came back positive that I have 1 copy of the mutation.  It is actually quite common, just not thoroughly researched enough, imo.  My Dr told me that the issue lies in how most OBGYNs deal with recurring m/cs.  As if its not a "big deal" or "not a problem" until you've had more than 3.  Which is exactly what my previous Dr said to me and my husband after our first, and while I was sitting there bawling my eyes out after discovering during my first ever ultrasound that our baby had died... (after 6+ yrs of infertility).  His exact words were (to the question I asked "How do we find out what's wrong and keep it from happening again?") "We usually don't get concerned with early PG m/c because there could be a number of things wrong which caused the m/c.  Chromosomal abnormality is the leading cause.  And things like this "just happen".  Tests are usually not done until after the 3 - 4 m/c."  So basically they chalk it up to "one of those things" and ignore all possibilities... which result in not enough information about possible causes.  Which IMO is totally unacceptable.  I understand "sometimes things like this happen." but that doesn't make it any less painful and heartbreaking and it is an Important event to which the cause should be found out if at all possible. Most reg obgyns have probably heard about mtfhr/c677t but their knowledge of it probably also ends with "a baby aspirin a day should help".  Pretty much every forum I have been on and read similar situations from women with similar stories, they were all given Lovenox as a Precaution.  Not just a baby aspirin.  When I discussed that with my Dr... I was basically told no... it was probably not right for me.  (Which is why I'm seeking a specialist who hopefully knows better whats right for me).  A big thing I have run into is Most Drs just don't like it when you do your own research and learn what you can regarding certain things that they feel you should just accept their explanations for.  They feel threatened or something because think you are challenging their knowledge.  Which isn't really the case... I'm just not an idiot, and I don't believe thousands of women with similar stories are just full of poop and clueless.  I believe that if something has helped them... then it could possibly help me as well and I want to fully explore those options... regardless if my dr agrees or not.  These are MY babies I'M losing.  These are MY heartaches, MY sorrows.  I'M losing MY children... and I don't want to lose MY children.  I want to love them, hold them, raise them, cherrish them.  Too often Drs forget that they're not dealing with PEOPLE because they get so caught up in thinking they're dealing with a Medical Condition.  My children are not medical conditions.  

 

After my 2nd m/c with that Dr.  I demanded a full panel of tests done to find what was wrong.  He obliged with 15 tubes of blood being drawn from me... I was ill after that... had the worst headache ever!  And his response after reviewing the results was "Everything was within NORMAL".  so I switched Drs.

Anyway.  We never made it to seeing a heartbeat with my next two m/c.  

I see a specialist tomorrow.  A Maternal Fetal Medicine Dr... who I pray will be able to help me in some way.  

I am definitely going to look into Vit E and Omega-3.  I have opted to take my extra folic acid, and I've been taking my baby aspirin a day.  I've increased my intake of natural folic acid too, hoping that in its natural state it will transition easier for my body to use.  Spinach, tomatoes, OJ, etc.  I've been taking some adult doses of children's vitamins as well.  Since I've opted out on taking the prenatals until my appt tomorrow.  


Please pray that things go well with this appt.  I'm feeling really good about this pg... and it helps that I'm feeling so crappy from morning sickness.  Lol.  

I'll be back on to update yall with more info.

Thank you so much!!!


Here's a link to the MTFHR for anyone who's interested:
http://www.kimballgenetics.com/tests-mthfr.html
« Last Edit: October 22, 2009, 03:29:06 PM by JenaS »

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Offline Manal

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Re: Thal Minor AND C677T Mutation
« Reply #8 on: October 22, 2009, 11:58:01 PM »
Good luck in your visit, will be waiting for an update

manal

 

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