Success after IF

So I've been posting for months and never made an intro...

I've been posting on here for several months, but don't think I ever made an official intro.  After seeing so many other intros, I got to thinking that might have been a little rude of me.  So here goes...

I am an attorney and DH is a physician. We have been married for 6 years and together for ten. 

I have a 5 month old little boy from Clomid/IUI.  During our TTC journey, I first found out I had high fsh.  I was basically having really bad symptoms - hot falshes, night sweats, mood swings, weight gain, wonky cycles, barely there periods, etc.  I had my CD 3 bloodwork drawn and my FSH came back at like 13.3 with estrogen also elevated (something like 120, I think) which indicated my FSH was actually higher but the FSH was having a suppressive effect.  I knew enough to know this wasn't normal and went to see my OB.  My OB right away referred me to see an RE. 

The RE (between my symptoms and blood work) was concerned that not only did I have "DOR" (dimminished ovarian reserve) but that I was potentially entering the early stage of menopause.  He took more bloodwork.  We also had other testing - AFC, HSG, Hysterscopy, etc. I remember sitting in his office and him telling me about all of the things he was going to test me for - various genetic conditions like Turner's Syndrome and Fragile X, etc.  I even remember (ironically) saying, "Why are you testing me for Turner's?  I don't have a webbed neck and I'm tall.  Why are you testing me for Fragile X? I'm clearly not mentally retarded and I don't have a long face with large protruding ears."  I knew from helping DH study for his medical boards years before what alot of the conditions he was testing me for were and at the time it just seemed ridiculous that he was testing me for these disorders that (in my mind) I clearly didn't have. 

It seemed to take forever for my bloodwork to come back--literally, it was several weeks.  I finally called the RE's office and spoke with a nurse.  She gave me some "BS" about some of my results had come back unusual (as in the RE had not seen it before) and he wanted to speak with a specialist at UT (we have 3 medical schools in our city) before getting back with me.   Of course, that had me completely freaking out and I wasn't letting her get off the phone with me until she told me more.  She finally told me that my amh had come back at 0.54 and the bloodwork had also showed that I was Fragile X premutation carrier.  I had an abnormal number of repeats on one of my X chromosomes.  The reason I was relatively unaffected (other than having the DOR) was because I had another normal X. The Fragile X part was not something I was expecting AT ALL.  I remember calling my DH (who at the time was on faculty at UT medical school) and telling him the results (regarding the Fragile X) and he, too, was blown away.  The Fragile X issue had thrown a completely new wrench in things because now we weren't just dealing with me having DOR (dimminished ovarian reserve), but were also dealing with a situation where I could potentially have a child with Fragile X syndrome (which is the leading inherited cause of mental retardation and autism).

We met with geneticist and did a ton of research.  We learned that because the number of repeats on my "mutated X" was at a level that was relatively stable and not exceedingly high (although, high enough to have caused the DOR), that the odds of us having a child with full blown Fragile X Syndrome were probably pretty low.  First, there was only a 50/50 chance the child would even get my bad X.  A girl, even if she got my "bad" X would probably be unaffected or relatively unaffected (like me) because she would also have a good X from my husband.  A boy would have a greater chance of being affected since he only has one X (if he got my bad X), but they still felt like the mutation was low enough that he would not have the more severe issues like mental retardation or autism.  His symptoms, if he had any at all, were more likely to be mild like ADHD, behavioral issues, potentially ataxia/tremor syndrome when he got older, etc.  MWe decided that the risks were worth taking and that the baby we got (if we were able to have one) would be the baby God meant for us to have. I think part of what helped us in making this decision is the fact that my DH actually has pretty severe dyslexia, but was still able to become an engineer and later a doctor despite this "disability."  Plus, I have ADHD and had been speech delayed as a child and had a lazy eye for which I wore a patch (all of which I now know are common in Fragile X carriers) and I figured I tured out okay.

So we proceeded with IF treatment and got pregnant. My RE had actually told us to go straight to IVF because my numbers were so bad and he put our odds at concieving with anything short of IVF at very low. Nonetheless, we were successful with Clomid/IUI.

Then I had a really rough pregnancy. I had horrible m/s for about the first 5 months. It was really one of the worse things about this entire process because I was still having to work and make about a 2 hour commute everyday.  Almost as soon as I got over that, I started having contractions at about 23-24 weeks. I was diagnosed as just having an irritable uterus.  For whatever reason, the contractions went on for about a month or two but seemed to not be too bad so long as I limited physicial activity.

Shortly after I got over that hurdle, I started having horrible headaches, seeing spots, high BP and swelling.  We also started noticing my fundal height was not what it should be. Eventually, my LO was diagnosed with IUGR and I was referred to an MFM. Then, shortly thereafter, I was diagnosed with severe pre-eclampsia. (Honestly, I think my OB's office sort of screwed up because I had ALL the symptoms of pre-e for about a month before it was diagnosed.  (It took me literally doing a 24 hour urine collection on my own, taking my urine in a jug up to the office, handing it to them and saying, "Test my proteins!")  After the severe pre-e diagnosis, I was put on hospital bedrest.  The OB seeing me (my regular OB was out of town) at the time wanted to deliver even though I was really early, but my MFM doctor pulled back the reigns - thankfully.  I eventually was sent home on a high calorie/high protein diet and spent the rest of my pregnancy on bedrest.  I only went out to go to the MFM doctor and the OB a couple of times a week for NST's, ultrasounds and other monitoring. And I gained ALOT of weight.

At 37 weeks, my LO failed an NST (non-stress test) as his heart rate was deceling.  They delivered him by c-section and found the cord wrapped around his neck twice.  He was very long and skinny and only 5 lbs 1 ounce, but otherwise was perfect.  He spent one night in the NICU for low blood sugar--he had been being starved in utero. He was about 4.75 lbs when we took him home and sooo skinny since he was about 20 inches.  But other than having GERD (common in IUGR babies) and a milk protein allergy, he has done really well. 

So that is my story.  Sorry it turned into a book!

IF DX: DOR & Fragile X pre-mutation carrier
2011: FSH 13.3 & E 99; AMH 0.54 2nd FSH 6.2 E 40's AFC: 8
BFP from Clomid/IUI ~ Pre-e and IUGR during pregnancy ~ DS born 9/4/12
Feb./March 2013: AMH less than 0.16 (undectable) and AFC = 4;
BFP from supps ~ DS#2 due May 2014

May 2014 January Siggy Challenge:
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Re: So I've been posting for months and never made an intro...

  • Oh gawd IBack.  Thank goodness they delivered when they did (and that you made it to 37 weeks)!  How scary! 

    Glad LO is here and doing well!

    *My Loves, My Life, My Littles*

    02/18/11, 05/24/12 and 12/03/13



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  • Welcome and congrats! That's quite a story- so glad you have your miracle baby!

    "I prayed for this child and the Lord has granted what I asked of him." ~1 Samuel 1:27
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  • From one sufferer of horrible morning sickness to another, I feel your pain.  I'm glad everything worked out in the end despite the journey being a long and winding one.

    So glad your son made it here safe and sound.

    And, FWIW, I've never done an intro on any board so clearly I don't consider it rude not to intro.

    Kelly, Mom to Christopher Shannon 9.27.06, Catherine Quinn 2.24.09, Trey Barton lost on 12.28.09, Therese Barton lost on 6.10.10, Joseph Sullivan 7.23.11, and our latest, Victoria Maren 11.15.12

    Secondary infertility success with IVF, then two losses, one at 14 weeks and one at 10 weeks, then success with IUI and then just pure, crazy luck.  Expecting our fifth in May as the result of a FET.

    This Cluttered Life

  • I'm glad you made it here! Congrats on your LO. I'm glad everything has turned out OK, even if it was a long, hard journey.

    I have a few Fragile X questions, if that's OK. My husband is a premutation carrier.

    How many repeats do you have? DH is a "grey zone" premutation carrier. He has 47 repeats.

     Are you having your LO tested to see if he got your carrier X and if so how many repeats he has?

    Since we had a DD, she definitely has repeats. We are deciding what to do about having her tested.  

    DX: Severe MFI 
    IVF # 1 ~ Antagonist ~ ER 1/27/11~ ET 1/30/11 ~ + HPT 7dp3dt 
    DD born med-free on 10/24/11 
    Lilypie - (lZjk)
    IVF # 2 ~Antagonist ~ ER 6/5/13 ~ ET 6/10/13 ~ + HPT 4dp5dt 
    Lilypie - (OUlo)

  • Wow! What a pregnancy! It seems strange to say welcome at this point, but thank yo so much for sharing your story. :)
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    Unexplained Infertility

    After two Clomid cycles, three injectable IUI cycles, two IVFs, two miscarriages, and one lap surgery, IVF #2 has brought us our little boy!

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    TTC #2
    After months of being postponed or cancelled, FET #1.3 (Natural FET) brought us twin girls!

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    Surprise! Baby #4 is due in March!
  • Wow, what a journey you've been through!  Congrats again and welcome!
    TTC since 10/2008  RE consult 6/2010 Dx:Unexplaied IF

    Failed multiple cycles of Clomid+TI and Clomid+IUI

    3/2011 inj+IUI #1 BFP. 4/2011 missed m/c. 

    Fall 2011 inj+IUI #2&3 BFN

    Jan/Feb 2012 IVF#1 BFP 2/23  EDD 10/31/2012 ~~~ Halloween ~~~

    Our IVF miracle, Baby Boy M, arrived on 11/8/2012!
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  • imageCallMeAl:

    I'm glad you made it here! Congrats on your LO. I'm glad everything has turned out OK, even if it was a long, hard journey.

    I have a few Fragile X questions, if that's OK. My husband is a premutation carrier.

    How many repeats do you have? DH is a "grey zone" premutation carrier. He has 47 repeats.

    Honestly, I don't remember. At one time I could have told you.  For some reason 50-something sticks out in my mind but I may be thinking of that because my AMH was 0.54.  I do, however, remember that in showing us a study on the likelihood of having a child with FXS, the geneticist we saw broke it down by ranges and I was in the lowest range while still being considered to be a premuation carrier.  So I don't have a large number of repeats.  I think a woman is a mutation carrier if she has over 200 repeats on one X.  I was definately not a "mutation" carrier--thank God!  If I had been, our son basically would have had a 50/50 chance at having FXS.

     Are you having your LO tested to see if he got your carrier X and if so how many repeats he has?

    I am sure we will at some point.  I mean, we know he doesn't have full-blown FXS because you can look at him and tell.  The main concern (according to a geneticist we saw both while TTC, a geneticist at my MFM's office and my MFM) is not that he would have full-blown Fragile X Syndrome (over 200 repeats), but for future generations because over generations the number of repeats can expand. At lower levels, like what I have and your husband has, the number of repeats is more stable from generation to generation and may expand a little, but the more repeats you have, the less stable it is from generation to generation and the greater the likelihood of expansion into full-blown FXS in one generation.  For example, if you have 50 repeats, at worst your child might have 55 or 60 repeats (or he or she could also have fewer repeats) but it is highly unlikely your child would end up with over 200 repeats.  But if you have 150 repeats, there is much higher likelihood that your child could end up with over 200 repeats--which is the range where you see the serious issues like MR and Autism. I'm just using these numbers as exaples.  Does that make sense? I feel like I'm not explaining it very well even though I know what I'm trying to cmmunicate.

    Since we had a DD, she definitely has repeats. We are deciding what to do about having her tested.  

    Well, I would not worry about it right now while she is a baby...I got through 31 years of my life and graduated with honors from a top 15 law school without ever knowing anything about any of this.  The only thing that I would think that might be a cause for concern would be that she would (like me) have a risk of Fragile X Primary Ovarian Insufficiency--basically Dimminished Ovarian Reserve.  The studies that I have seen have actually shown that Fragile X Primary Ovarian Insufficiency is more likely to occur at lower "abnormal" levels of repeats than it is in women with over 200 mutations.  About 1 in 4 women with a premutation experience "FXPOI"  (basically DOR).  Here is a link about FX POI:

    https://www.fragilex.org/fragile-x-associated-disorders/fxpoi/

     

    IF DX: DOR & Fragile X pre-mutation carrier
    2011: FSH 13.3 & E 99; AMH 0.54 2nd FSH 6.2 E 40's AFC: 8
    BFP from Clomid/IUI ~ Pre-e and IUGR during pregnancy ~ DS born 9/4/12
    Feb./March 2013: AMH less than 0.16 (undectable) and AFC = 4;
    BFP from supps ~ DS#2 due May 2014

    May 2014 January Siggy Challenge:
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  • Thanks everyone for the welcome...even though I've been on here for awhile! ;)

     CallMeAl:

    Here is some info I cut and pasted from the website I gave you the link to:

    FXPOI occurs in about 20-25 percent of adult female FMR1 premutation carriers. It has also been reported in teenagers who are carriers, though it is less common in that population.

    If you have already been tested and are a confirmed FMR1 premutation carrier, you should alert your physician to the risk of FXPOI in carriers (some physicians might not be aware of this condition).

    All female FMR1 carriers should keep a log of their menstrual cycles and note any unusual patterns, missed cycles, abnormally long cycles (more than 35 days) or short cycles (less than 21 days). Also note any other physical changes such as hot flashes, insomnia, vaginal dryness and/or decreased libido, increased anxiety, etc.

    If you are concerned that you might have FXPOI, talk to your physician about having your FSH, a hormone that reflects ovarian function, measured. FSH levels increase as you approach menopause or if your ovaries are not functioning properly for your age.

    FXPOI is a condition in which the ovaries are not functioning at full capacity in an FMR1 premutation carrier. Common symptoms of FXPOI include absent or irregular periods, symptoms of menopause such as hot flashes, etc, early menopause and infertility.

    The range of FXPOI symptoms includes POF, which is at the more severe end of the spectrum. FXPOI also includes other symptoms of ovarian insufficiency including irregular cycles, ?sub-fertility? or infertility, hot flashes, etc. All of these encompass a wider range of symptoms than POF alone.

    Even though women with FXPOI may develop symptoms similar to those of menopause, such as hot flashes and vaginal dryness, FXPOI differs from menopause in some important ways:

    • Women with FXPOI can still get pregnant in some cases because their ovaries may occasionally function to release viable eggs. Women who have completed menopause cannot get pregnant because their ovaries no longer release eggs.
    • Women with FXPOI can experience a return of menstrual periods. Women who have completed menopause will not have menstrual periods again.
    • FMR1 premutation carriers can have normal ovarian function, but can still go through early menopause, which is menopause occurring between 40 and 45 years of age (menopause normally occurs between 45-55)
    IF DX: DOR & Fragile X pre-mutation carrier
    2011: FSH 13.3 & E 99; AMH 0.54 2nd FSH 6.2 E 40's AFC: 8
    BFP from Clomid/IUI ~ Pre-e and IUGR during pregnancy ~ DS born 9/4/12
    Feb./March 2013: AMH less than 0.16 (undectable) and AFC = 4;
    BFP from supps ~ DS#2 due May 2014

    May 2014 January Siggy Challenge:
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  • What a journey!

    TTC #1 since 8/09, Dx MFI 4/10
    IUI #1: 6/10 = Cancelled, IUI #2: 7/10 = Cancelled, IVF #1: 9/10 = BFP
    Baby girl arrived - 6/14/11

    TTC #2
    IVF #2 - Oct/Nov 2012: 11/5 - eSET - 7 Frosties - BFP
    Baby girl arrived - 7/17/13 


    TTC #3
    FET #1 6/21/18



  • imageDragonfly1226:
    Wow! What a pregnancy! It seems strange to say welcome at this point, but thank yo so much for sharing your story. :)

    This!  That was quite an experience you had.

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  • Wow, what a wild ride. So glad you and LO ended up okay in the end. Shoot, I can only imagine how skinny your LO was at 20in and 4.75 lbs. 
    TTC Since 3/2010
    Me-36, Unexplained Infertility, DH-35, all clear
    Clomid 50mg 12/2011 = BFN
    Clomid 100mg 1/2012 = BFN, with Cyst
    IVF #1 Lupron/Menopur/Gonal-f/HCG Trigger
    ER 4/19/12 = 11 retrieved, 6 fertilized,
    ET 4/22/12 = 2 transfered (day 3), remaining 3 weren't good enough to freeze
    Beta 5/3 = BFP, 87 Beta #2 5/7 560.9 Beta #3 5/9 1376.5 First u/s One Baby, 125bpm!
    Second u/s, 176bmp! Kicked over to the OB by the RE at 8w. Team Green!! 
    Baby girl J arrived two weeks early! Born into water, med-free. Hooray for Team Pink!

    TTC #2 - back to the RE, treatment started 12/2014. 

    image
  • Oh holy hell, hon! You have been through the ringer! I am so happy that your story had a happy outcome.

    And welcome Smile

    Me: 37 DH: 40 TTC since 9/09
    #1 BFP 1/10/11; missed m/c discovered 7w5d
    IF Dx: Endo, hetero MTHFR mutation, poor morphology
    #1 IUI: 1/18/12 = BFN
    #1 IVF/ICSI 4/2/12 = 2 x 7-cell and 1 x 5-cell transferred (3dt) = BFP!!
    H was born at 41w2d on 12/29/12 - be still my heart!
    #2 IVF/ICSI 1/19/14 = 2 x 8 cells transferred (3dt) = BFP!! EDD 10/09/14
    M&W born at 37 weeks on 9/18/14 - I am the momma of 3 boys!!!

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  • WOW!  Now that is a story!  Glad you got a healthy THB!
     
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  • imageMrs.AmyDylan:
    Wow, what a wild ride. So glad you and LO ended up okay in the end. Shoot, I can only imagine how skinny your LO was at 20in and 4.75 lbs. 

    Seriously, my DD was skinny 20 inches and 6 lbs, 12oz. I can't imagine how skinny he must have been!! Glad it all turned out well in the end after your long journey!

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