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  #1  
January 26th, 2012, 07:11 PM
sweet.hun's Avatar We're Complete <3
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I was reading through my medical records tonight with DH and there is just so much information that they didn't talk about with me! It boggles my mind!

I have the MTHFR C677T mutation along with the bigger problem: Balanced Reciprocal Translocation between chromosomes 1 and 4. Everything that I've googled tonight has just made me more stressed out to TTC on our own without IVF. There are 4 possibilities....

1: I have a child that comes out perfectly normal (about 25% chance according to research)
2. I have a child that ends up having a balanced reciprocal translocation as well and is fine physically but will have problems TTC as well.
3. I have a child that ends up having an unbalanced reciprocal translocation and has serious physical or mental disabilities such as downs syndrome or spina bifida.
4. I have an unsuccessful pregnancy due to unbalanced reciprocal translocation that ends either in first trimester or second trimester loss as miscarriage or stillbirth.

I'm so freaked out about all of the possibilities. DH and I have decided on IVF but not for about 2 years. In the mean time, I'll be having Mirena IUD put in due to my not wanting any more miscarriages. I don't think I can handle it.
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  #2  
January 26th, 2012, 07:16 PM
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I'm so sorry hun I can only imagine how worrisome that must be. I hope you're able to enjoy the next two years as much as possible and that IVF is a big success.
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  #3  
January 26th, 2012, 07:31 PM
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Thank you hon.
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  #4  
January 26th, 2012, 07:34 PM
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i am so sorry that's a lot to absorb and i'm sorry your doctor didn't discuss it with you and answer questions i'm sure you have. I hope IVF is a better path for you and can help eliminate some of your risk (and worry) about the BRT impacting your next pregnancy
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  #5  
January 26th, 2012, 11:22 PM
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You NEED to get into a geneticist before you make any final decisions! The translocation you have are on higher number chromosomes which our geneticist told us is a good sign. DH is on #3 and #12. We have two children our DD is normal and our DS has the translocation. We were told anything #13 and under were the poor only 10% healthy child prognosis. We were told it's a really common genetic issue. Like 1 in 500 live births have it. Most people have no idea they have it until they have fertility issues. We were told some never find out about it and have 4+ children. They only find out because they have problems having #5.

Truly I googled the he11 out of it when we found out DH had it and had given up, before talking to a geneticist. I knew IVF was out of the question. There was no one on this board that knew what it was or was dealing with it. Now there is myself and Kiwi who has it herself. She had a child and one on the way. Both of her's are normal.

After finding out about the BCT we decided to continue with clomid and TI(lovely Tricare here too). We knew the risk of MC was higher for us but we were given hope from our geneticist. We found out in June and in Sept we found out I was pregnant. There was 2 babies and I lost DS's twin but I kinda had to put that out of my mind to focus on the one healthy baby in there. We were offered a CVS or Amnio when I was 12 weeks but we refused since we were told the chances of us hitting 12 weeks with an unbalanced was really low and we wouldn't terminate if the baby was balanced. DS is one of the healthiest babies I've ever known. Yeah he as in the NICU at birth but that was because of me not him. In his 20 almost 21 months he's only been sick a handful of times. When he was 6 months we went back to the RE. I was put on clomid again with TI to our shock the 3rd cycle stuck. There were a lot of questions at first because my numbers were weird. But at 6 weeks we had one baby with a heartbeat. The only thing the RE can think happened is 2 eggs fertilized and implanted. The other egg implanted first but didn't make it. DD implanted second but later so it threw off the numbers. We know she had to be the second implant since I got a BFP around 9DPO and when we were able to measure her she was a few days behind that. She is 100% normal. We were offered the CVS or Amnio again but declined as we did the first time for the same reasons. We did get both kids tested right after birth while still in the hospital.
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  #6  
January 26th, 2012, 11:52 PM
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Im sry hun i wish there was some way i could reassure you. I dont know much about this kind of things though. But google is not ur friend when it comes to things like that it just stresses you out more then you need to be.
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  #7  
January 27th, 2012, 03:23 AM
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I am sorry things are looking bleak, Shasta! I don't have the first clue about genetic issues but what Kobain's mommy said makes sense. Go see a genetist, he should be able to explain things going on and your outlook on pregnancy a lot better.
I really hope you have lots of great things coming your way!! You deserve it and it's heartbreaking to watch you suffer through so many m/cs. No women should ever have to experience so many. You will be in my thoughts!!!!
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  #8  
January 27th, 2012, 06:06 AM
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I don't have any advice, but I'm sending lots of hugs your way!
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  #9  
January 27th, 2012, 06:11 AM
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Shasta - I can't pretend to know how you are feeling right now about this news. I can relate though to wanting a baby in the worst way and all odds are against you. Our issues are different than yours, but the odds and outcome still feels so sad. So you are not alone in how you feel. I am sorry to see anyone have to go through this. Big hug giant hugs!
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Me (43) DH(33) 12 years together - ttc our first together-I have 14yr old DS
Cycles 1-6 = BFN
Cycle 7 SA results abnormal morphology 2%, 50 mg clomid = BFN
Cycle 8 sonogram normal 50 mg clomid + trigger = BFN
Cycle 9 SA results abnormal morphology and motility. Count 200 mill, 100mg clomid + trigger = BFN
Cycle 10 natural = BFN
Cycle 11 hsg tubes clear, natural + trigger+IUI = BFN
Cycle 12 repronex + trigger + 2 IUI = BFN
Cycle 13 natural ovaries to stimulated for more meds = BFN
Cycle 14-22 natural cycle with Acupuncture and planning ivf/icsi/DE = ALL BFN
Cycle 23 Clomid 50 mg & Progesterone = BFN
Cycle 24 Natural = BFN
Cycle 25 BCP, SA result 7% morphology = BFN
Cycle 26 BCP and Lupron preparing for IVF
Cycle 27 IVF Acupuncture, DE Retrieval April 7, Transfer April 12 =
7 eggs retrieved, 3 fertilized, 2 transferred - zero snow babies
BETA # 1 16DPO or 11dp5dt = 569
BETA # 2 19 DPO or 14dp5dt = 1078
BETA # 3 22DPO or 17dp5dt = 2414 TWINS!
BETA # 4 30DPO or 25dp5dt = 12,685 6weeks 3days 2 heartbeats! 114 & 116
Clayton and Colton Born @ 34 weeks 11/22/13
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  #10  
January 27th, 2012, 06:23 AM
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*hugs* Hopefully Nicole gave you some helpful advice. I know she's been dealing with this for years, and Tasha(Kiwi) is also dealing with this. Tasha lost her first baby due to this, and her second turned out to be a healthy little boy. She's currently expecting again and will be doing the CVS soon to check on things as well. There's a few others I know of that have dealt with this and all of them have their miracle babies now-and most did not end up going with IVF. I'd definitely ask to speak with a geneticist as well, because they can give you the detailed answers.
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  #11  
January 27th, 2012, 06:26 AM
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Nicole, did Tricare cover your visit with the geneticist? It seems like you should be able to get a referral that will cover it since you have documented issues that require that kind of specialty!
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  #12  
January 27th, 2012, 09:45 AM
sweet.hun's Avatar We're Complete <3
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I did ask for a referral to speak with a geneticist and should be able to make an appointment in a week after it goes through Tricare.

I'm just worried about a baby having some serious issue because I didn't want to take the steps to do IVF. I know I would love that baby no matter what but if I know that I can have that happen, I want to prevent it as much as possible. I guess I need to speak with a geneticist more to see what they recommend. I just really don't want to deal with any more miscarriages from TTC on our own. I dunno, I have to stew some more I think.
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  #13  
January 27th, 2012, 01:24 PM
Kobain's Mommy's Avatar Future A&M Aggies Mommy
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Originally Posted by KMH View Post
Nicole, did Tricare cover your visit with the geneticist? It seems like you should be able to get a referral that will cover it since you have documented issues that require that kind of specialty!

Yes they do! We got our referral on Monday and the appointment wasn't till 3 months later. I called the geneticist to be put on the cancellation list. They called Tuesday saying they had an opening Wednesday (the geneticist only works one day a week). So the RE's office had to scramble and put an urgent on the referral. It got in but wasn't processed by the appointment but when I called TriCare they said they'd pay it since they had the referral prior to the appointment and it was for a known genetic problem.

We've seen the geneticist for DS. She said over and over again while checking him out that if she hadn't seen the DNA results she'd have never guessed it.
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  #14  
January 27th, 2012, 05:04 PM
Kobain's Mommy's Avatar Future A&M Aggies Mommy
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Originally Posted by sweet.hun View Post
I did ask for a referral to speak with a geneticist and should be able to make an appointment in a week after it goes through Tricare.

I'm just worried about a baby having some serious issue because I didn't want to take the steps to do IVF. I know I would love that baby no matter what but if I know that I can have that happen, I want to prevent it as much as possible. I guess I need to speak with a geneticist more to see what they recommend. I just really don't want to deal with any more miscarriages from TTC on our own. I dunno, I have to stew some more I think.

See the geneticist before getting doing anything. Really before we saw the geneticist I was just seconds from buying donor sperm till DH told me to wait. Had I made a rash decision in the heat after the sting I wouldn't have DS.

Don't google anymore. The chances are really really low of having a baby with major issues. Yes my son has it as well. He's healthy, happy, normal, and into trouble non stop like a 20 month should be. Yes miscarriages are hard that's why our RE decided to have us continue clomid since I produced 2-4 follicles on it. He wanted to increase our changes of a successful pregnancy. Yes both of my kids had a twin but I don't dwell on that since I've got them.
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  #15  
January 27th, 2012, 08:15 PM
sweet.hun's Avatar We're Complete <3
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Originally Posted by Kobain's Mommy View Post
See the geneticist before getting doing anything. Really before we saw the geneticist I was just seconds from buying donor sperm till DH told me to wait. Had I made a rash decision in the heat after the sting I wouldn't have DS.

Don't google anymore. The chances are really really low of having a baby with major issues. Yes my son has it as well. He's healthy, happy, normal, and into trouble non stop like a 20 month should be. Yes miscarriages are hard that's why our RE decided to have us continue clomid since I produced 2-4 follicles on it. He wanted to increase our changes of a successful pregnancy. Yes both of my kids had a twin but I don't dwell on that since I've got them.
Can I have your RE see me? Apparently mine won't do anything but IVF in this case (I contacted the office today and he's made his stance clear). Guess I'm off to find someone else who will help.
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  #16  
January 27th, 2012, 08:35 PM
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I would call your PCM and get a referral to the geneticist if the RE won't do it. You my be able to have them put a priority on it as well. Our RE is a civilian one since there is no MTFs here but they put a rush on it, well really didn't have a choice since we got in less than 2 days later.

I'm sure my RE would take you on if you were willing to come to ND. There are 2 REs in the office. The first one, female, was the one that told us doom and gloom like it sounds like your RE did. She actually had the balls to have a nurse call us the next day to see if we were going to continue the cycle with IUI/donor sperm or get us on the next IVF cycle. After seeing the geneticist and requesting the other RE (male) he was fine with the Clomid and TI. He wanted us to finish out our 6 cycle in a row max then would talk about injectables with TI since he knew we'd have to be paying out of pocket with Tricare if we did IUI or IVF with PDG.
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  #17  
January 28th, 2012, 08:31 AM
sweet.hun's Avatar We're Complete <3
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The RE did give me the geneticist consult, but that's as far as he's willing to go pretty much. And the fact that my MTHFR issue wasn't worrying him blows my mind. I just don't get how he doesn't piece together that the MTHFR is also probably the issue, and most likely to blame for my last miscarriage.

I'm going to call my PCM and ask for a referral to a regular OB/GYN office and I'll get started with them, tell them my story and see if they will help me at all.
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  #18  
January 28th, 2012, 10:00 AM
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I think that sounds like a good route to go Shasta, especially once you consult with the geneticist. Are there any other RE's in the area you can try as well?
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  #19  
January 29th, 2012, 03:04 PM
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Originally Posted by *JenJen* View Post
I think that sounds like a good route to go Shasta, especially once you consult with the geneticist. Are there any other RE's in the area you can try as well?
I'm not too sure but I'll definitely be looking around. We're in a pretty small town so to get another one I may have to drive 30 minutes away.
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  #20  
January 29th, 2012, 04:19 PM
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Originally Posted by sweet.hun View Post
I'm not too sure but I'll definitely be looking around. We're in a pretty small town so to get another one I may have to drive 30 minutes away.
I feel you on the small town. We have to drive 25 minutes to get to the RE from the town we are in, and his practice is the only one in town. The next closest is a 2.5 hr drive away. It might be worth seeing if there is one who can at least consult with you, and maybe work in conjunction with a local OB to help you out.
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