Harmony Results! (long) — The Bump
Third-Party Reproduction

Harmony Results! (long)

XP from LGBT slightly adjusted for IF sensitivity (i.e., no photo).

Hi all,

Well today we got our Harmony results and found out we are having a girl!

Now, unfortunately we did not get a "baby is perfect" call - however, if she wasn't 'perfect' this was one of the better genetic problems to have. The Harmony test showed she is XXX (or trisomy X). Please don't let your heart sink too far before you read on - this isn't the worst thing by any means. My first question was "oh no is this Turner's??" and she said "Oh no no no - this is WAY less severe." I took a deep breath. Phew.

The nutshell is XXX is usually undiagnosed and no one is ever the wiser. However, being that we are diagnosed is good news - in my afternoon of reading, I learned that girls whose parents know this early are able to take some measure to help them conquer the symptoms. Primarily those symptoms are some delays in speech and learning but usually still within normal ranges. They tend to grow fast until puberty (long legs) and then even out. They take a little longer to potty train, and can be shy - but still are chatty (poor J, that makes two of us in the house). There is a long list of possibilities, but the vast majority of the 'concerning' traits are in girls who were not diagnosed and struggle with frustration of learning issues or behavioral struggles without additional help. That won't be us. Since we know, we'll be all over it if she needs any sort of professional help.

We are meeting with a genetic counselor on Monday to get more information, however I will not risk her life doing an Amnio or CVS because this is not a pregnancy we would ever consider terminating. The counselor told me they can take a sample of her cord blood at birth for formal karyotyping and diagnosis, which is a no-risk way of dealing with it. The test is 99.9% accurate, so we are proceeding as if it is accurate. I found this great (albeit long) brochure on a website the counselor recommended - if you are interested you can read about it here. Some of it reads a little scary, but nothing terrified me.

I won't lie. We clearly wanted the 'perfect' report - but we didn't get it - and with that, we are both ok with what we learned today and plan to love the holy s.hit out of our baby girl. We will tell close family about the XXX, but not broadcast it, and of course will ensure her teachers know and look for signs of "help needed" and get her that help ASAP as she grows up. We feel totally equipped emotionally and financially to handle this and in a way, feel lucky she landed with us as we have the means and intention of doing everything possible to make her life great!

Thanks for reading our big update. Please don't feel bad - I mean, I know I feel a little bad and I'd feel bad reading this about any of you - but know that we are just so happy it's not something unmanageable, or severe, in terms of leading a normal life. We're just relieved overall, and still praying that this little girl is born full-term and safe!

Lil'mamaz was born on Aug 21, 2014! She's PERFECT!

It's been a long road to here...
Me (43) and J (45) - same sex couple. And we don't feel 40+!
June'12 - First RE Visit
Sept. '12 - Tubes removed
Dec. '12 - Donor Egg/Donor Sperm IVF Cycle - 4 good embies!
Dec. '12 - Fresh transfer, BFP! EDD 8/29/13
Mar. '13 - Missed m/c at 16w1d, baby boy stopped growing at 15w4d
Loss due to umbilical cord clot...baby was perfect. :(
Jul '13 - FET#1 - c/p
Sept. '13 - FET#2 - BFN
Dec.' 2, 2013 - FET#3 with our last chance embie - BFP!!!
Dec' 26, 2013 - hb!!
EDD 8/20/14 with a baby girl!
Little S was born on 8/21/14 - 8lb, 14 oz and 20 inches long.
We live in Seattle and used SRM for our donor egg IVF cycle


imageimageimageimage

Lacyj67Km672MrsT4

Re: Harmony Results! (long)

  • 2mamaz - I could not imagine more amazing mommies for this amazing little girl to be born to! I'm going to learn more about XXX myself. I admire you so much and know how much this little girl will be loved to the moon and back!

    ************ Signature/Ticker Warning ************
    Me (32) DH (36) - Finding our way to baby #1
    Me: POF/DOR - AMH <0.16, heterozygous c677t MTHFR, insulin resistant and gluten intolerant
    DH: Severe MFI

    12/2/11 - IUI #1- BFN 
    8/1/12 - IVF #1 - Zero response from max stims (600iu intramuscularly)
    My ovaries are just for decoration

    12/6/12 - Adopted five embryos that had been frozen for over ten years!
    2/11/13 - DEmbryo FET #1 Thawed four, sadly two didn't survive. Transferred two beautiful blasts. 
    2/16/13 - First BFP of my life @ 6dp5dt! EDD 10/30/13
    3/27/13 - After beta and u/s hell, no heartbeat ever detected. D&C at 9w1d.

    6/5/13 - Adopted four new embryos that had been frozen for seven years!
     
    9/12/13 - DEmbryo FET #2. Thawed and transferred two beautiful blasts
    9/17/13 - BFP @ 5dp6dt! EDD 05/31/14
    9/29/13 - m/c @ 5w1d. :(

    11/19/13 - DEmbryo FET #3. Thawed and transferred one blast from each batch. Wow!
    11/23/13 - BFP @ 4dp6dt! EDD 8/7/13
    Beta #1 @ 13dp6dt - 522  Beta #2 @ 16dp6dt - 1373 
    6w5d ultrasound showed one perfect baby with a beautiful heartbeat of 134bpm!

    Snowflake baby is a girl! 
    Our beautiful Snowflake girl arrived on July 22, 2014! 
     
     
    My embryo adoption blog: Wishing on a Snowflake
     
        image      image 
    BeckyP0052MamazInSeattlebrooklynesque
  • Your baby girl is so lucky she has you and J to take care and love her!! You are awesome and love all your positivity. She is already ahead! Can't wait to meet her!!

    ME:46 MH:44 DE IVF 2014
    Met with RE 4/11. 2 IUI's BFN. DE best option. Switched clinics to do "shared" program. Had to retake all tests and a mamm that put me behind and then on a DE waiting list for 12 months. Picked a donor!! (10/13/13) Got matched. Estimated transfer in December. After 2.5 years of patiently waiting I will finally cycle....can hardly believe it. DE cycle got cancelled. One of her tests came back positive.  Waiting for another donor. Donor picked!! (1/18/14)

    DE IVF #1 (4/26) BFN  DE FET #1 (6/4) BFP! Beta 1=339 Beta 2=852 Beta 3=9957 EDD 2/22/15!!


     

     

         imageimage 
         image   imageimage



    2MamazInSeattle
  • Loading the player...
  • My most heartfelt congratulations on your baby GIRL!  How fortunate you are to have her, and how fortunate she is to have you as her mommies.  I read the information you linked to.  We'll be here to support you in any way we can, but your love for her and commitment to her are the most important things.  
    TTC with DOR, low morphology, fertilization issues
    IVF#1 Oct 2009 (CCRM) - BFN
    IVF#2 March 2010 - Poor response/cancelled
    DE IVF#1 Aug 2010 - BFN
    DE IVF#2 Dec 2010 - Transferred 1, 2 frozen - BFP!
    TTC#2 FET Jan 2013 - Transferred 1 - BFP!

    Baby Birthday Ticker Ticker Baby Birthday Ticker Ticker
    BeckyP0052MamazInSeattle
  • Congratulations on your little girl!  From what you said, she has as good a shot at a happy life as any of us, and that is what matters.  With two strong women advocating and watching out for her, I know she will be better than fine.  Of course any genetic issue is not what you hope for for your children, but everybody has some bump or another in their road--she is lucky to have you and your fantastic outlook, and it goes without saying that you are lucky to have her.
    2MamazInSeattleBeckyP005brooklynesque
  • A sweet girl!! How amazing. You sound very educated and will always do what's best because she is yours and that's all that matters!!! You will make an amazing mom!!!
    Me 34 and DH 39 married in aug. 2002
    Did 5 round of clomid 2010 =BFN
     High levels of NK CELLS DX sept.2012 DOR:# 0.02 
    IVF #1 May 2012  ER 4, EF 2, ET 2 =BFN
    MINI IVF Oct.2012  Cancelled 10-27-12
    Ivf #3 Antagonist Protocol April 2013
    Shared cycle..Donor cycled in July Got 12 eggs 9 fertilized and 8 frozen!!
    DE FET #1 Sept. 3rd 2013 FIRST BFP EVER 5dp5dt
    miscarried Sept 24th at 5 weeks 5 days
    Etopic  D&C and hysterscopy Nov 5 2013
    dx with pre genetic blood clotting dec 2013
    FET #2 Jan 31st  2014 
    Miscarried for a second time again at 5 weeks 5 days
    Currently fostering to adopt an amazing little 1 year old boy..P.J!
    FET#3  is Oct 29th 2014
    BFN on fet #3
    Last and FINAL FET coming JAN 28th 2015
    Everyone Welcome






    2MamazInSeattleBeckyP005
  • Congrats on your little girl. It sounds like you and your DW will be able to help your LO overcome any challenges her genetic issue may present. You're going to be a wonderful mom!
    2MamazInSeattleBeckyP005
  • Km672Km672 member
    edited February 2014
    So happy for you!!! I know how badly you and J wanted a little girl! Looks like you are doing everything right to support your daughter- but I'm not surprised!_________ - Please take the time you and your wife need to work through this unexpected news. I'm so glad the prognosis is great, but it's still a lot for 2 expecting mamas to process. Congrats again on your baby girl, enjoy every moment of preparing for her arrival! Let the shopping begin!!! ;))

    Me (32) DOR, elevated NK Cells/ 2 copies of MTHFR mutation/ MH (35) azoo/high DFI   (TTC#1 since 2009)

    IVFs#1-4: (4/10-2/12) all BFN

    Surprise Bfp (9/11) - c/p

    DS IUI#1-2 (9/12, 10/12) - BFN

    DS IVF: (11/12) - BFN

    DE/DS IVF#1: (10/13) - 2 day 3 embies transferred-BFFN

    FET of 2 day 6 blasts: (12/13) - c/p

    DE/DS IVF #2: (4/14) - 1 day 5 blast transferred...BFFN...again.

    FET 5/14: 1 day 5 hatching blast transferred...another BFFN

    Repeat SHG 6/14-normal / Endometrial Receptivity Array biopsy 7/14-Receptive Uterus

    New RE, additional testing reveals elevated NK Cells

    FET of 1 day 5 blast (RE recommends transferring 1 due to elevated NK cells) with lovenox, steroids & intralipids in October

     

     

     

    2MamazInSeattle
  • edited February 2014
    Thanks all. I appreciate the reminder/"permission" to process. It has been sinking in and I think I'm going through appropriate emotions and will continue to...J wants to know more (genetic counselor Monday) and is generally better at not thinking the worst. Definitely had some tears and feel scared, but I do try to remember that this is manageable, not a death sentence! And not even retardation or any physical malformations!

    J reminded me last night that my closest sister had learning disabilities and likely has an IQ 10 points lower than me and its not *that* much of a difference...and she works at the same big corporation I do, is gorgeous, has a boyfriend and lives a totally normal happy life! She said "just imagine you have a little Julie in your belly"... She always knows the right thing to say.

    It will be a process. I did have that pang of wanting to know more now... But no way do I want to risk the pregnancy when we can safely get all her info at birth, and for the most part interventions aren't needed in the very beginning. So we'll get all the info we can, do the things we can in utero, and hope for the best.

    So many studies were on girls who did not know until later, I remind myself prenatal diagnosis gave best outcomes...like 70% being 100% normal in many areas.

    Thanks for your support and not being afraid to be honest!
    Lil'mamaz was born on Aug 21, 2014! She's PERFECT!

    It's been a long road to here...
    Me (43) and J (45) - same sex couple. And we don't feel 40+!
    June'12 - First RE Visit
    Sept. '12 - Tubes removed
    Dec. '12 - Donor Egg/Donor Sperm IVF Cycle - 4 good embies!
    Dec. '12 - Fresh transfer, BFP! EDD 8/29/13
    Mar. '13 - Missed m/c at 16w1d, baby boy stopped growing at 15w4d
    Loss due to umbilical cord clot...baby was perfect. :(
    Jul '13 - FET#1 - c/p
    Sept. '13 - FET#2 - BFN
    Dec.' 2, 2013 - FET#3 with our last chance embie - BFP!!!
    Dec' 26, 2013 - hb!!
    EDD 8/20/14 with a baby girl!
    Little S was born on 8/21/14 - 8lb, 14 oz and 20 inches long.
    We live in Seattle and used SRM for our donor egg IVF cycle


    imageimageimageimage

    Km672BeckyP005
  • Congratulations on your baby girl!!  She is so lucky to have you and J.  You two are amazing!  I'm happy you are learning everything you can in order to help her succeed in life!!  Thank you for sharing with us!!   
    ::: Married June 2003:::
    TTC #1 since: Aug. 2008
    Me: 34, DOR, MTHFR-A1298C (heterozygous), decreased blood flow to uterus, Mild Endo
    DH: 38, Balanced translocation 5&10, unexplained MFI, normal SA and SCSA
    Tx History: IUI 1&2= BFN
    IVF# 1 W/ICSI= BFN
    IVF# 2: cancelled d/t no response
    IVF# 3= 1 egg retrieved=immature/not viable
    IVF# 4= c/p
    ***CCRM ODWU***
    Found DHs BT and Me-decreased blood flow to uterus
    Recommended DE IVF w/PGD, incorporate electro-acupuncture. Decided to cycle locally
    ***New RE***
    DE IVF# 1(cycle #6) w/pgd, (freeze all): 30R, 23M, 15F, slow/poor embryo development, 4 biopsied, 1 Normal "Norm"; DE IVF w/PGD, incorporate electro-acupuncture. 
    IVF# 6: (OE/DS) cancelled
    IVF# 7: (OE/DS) 1R, 1M, 1F, arrested day 5
    Plan-DE IVF# 2 (cycle #8): DE/DS in May 2015

    http://icanhazbabyz.blogspot.com/
    imageimage image 
    2MamazInSeattleBeckyP005
  • Congrats on your baby girl! 
    I am so glad that you have researched this topic. I am a special education teacher and currently studying school psychology to assess IQs and learning disabilities. It is not uncommon for any student to have struggles at some point- but it is great that you will be prepared for those struggles and have time to educate yourself on how best to help your daughter tackle these challenges.
    ***WARNING***

    TTC Since 12/2008;  DH: 32, Azoospermia     me: 33, DX during IVF #4: Low AMH (Normal FSH) / SER due 
    to IVF Meds (causing failure to fertilize) Recent DX: Hashimoto's, Lupus Anticoagulant, White Blood Cell Disorder 
    High ANA, ATA, & APA, PAI-1 Heterozygous= blood clotting disorder; connective tissue disorder 
    IVF w/ ICSI #1 2/2011     IVF w/ ICSI #2 5/2011    IVF w/ ICSI #3 12/2012   *New RE* IVF w/ ICSI #4  5/2013
    IVF w/ ICSI #5 8/2013 (Natural Cycle- No drugs)- One follicle->one blast. CCS normal. FET 9/10- 6BB blast. m/c @ 5w
    IUI #1 12/23- BFN  IUI #2 Cancelled (ovulated during AF)  Prep:CoQ10 (300 mg); DHEA (25 mg); Melatonin (3 mg), Folgard 2.2, Metformin 500 2x, Levothyroxine 50mcg, Aspirin 81mg w/ calcium, B12,  Vit. D 4000 & Prenate Elite Daily; Cabergoline 1/2 pill 2x week-  Cycling: Estrace Priming; Prednisone 10mg, Lovenox 40mg 2x,  Femera & Menopur   
    IUI #2.1 6/30 & 7/1. 1st Beta: 90 (7/15); 2nd Beta: 226 (7/17); 3rd Beta: 766   EDD: 3/23/2015

       **ALL WELCOME**                                    My Blog 
    image
    image


    2MamazInSeattleBeckyP005ArgyleBride
  • Congrats on being team PINK!!!

    I'm thrilled for you and I really admire your wonderful attitude about the Harmony results. I had never heard of this condition before, but it definitely sounds manageable! You and J are going to be wonderful parents and your little girl is soooo lucky to have both of you!!! Congrats again!!! :)

    Me: AMA, DOR, undetectable AMH, carrier of SMA, MTHFR homozygous C677T, high cytokines, low IGg B cells, Factor XIII V34l mutation, High Anti-Phosphatidylethanolmine, borderline hypothyroid and mildly insulin resistant.

     

    MH: No known issues, aside from MTHFR.

     

    Recommendations from RI: LIT, Humira, IVIG, Lovenox, Baby Aspirin, Folic Acid, Low-dose synthroid and Metformin.

     

    Currently taking:  Pre-Natal vitamins, Foltanx, Low-dose synthroid and Metformin. 

     

    When cycling also taking: Baby Aspirin, Lovenox, Humira and IVIG.

     

    TTC since 7/11/09..with medical intervention starting in 2010, including 4 failed IVF's and 6 failed IUI's...only "success" was a chemical pregnancy in 11/2012 (credited to use of DE).

    FET #1 (11th cycle) on 8/23/13 = BFN.

    FET #2 (12th cycle) Transfer of last two (day 6) donor egg blasts on 1/22/14 = BFP, EDD = 10/10/14 (please stick little BOY!)

     

    My favorite breed:

     

    image

    ***PAIF/SAIF always welcome***

    2MamazInSeattle
  • Your attitude is fantastic! Your baby girl will do wonderfully with all the love and help you are going to give her!!

    ***signature & ticker warning***


    Me: 30 ~ Stage IV Endo ~ AMH .38 ~ AFC 8
    AMH .97 as of 4/2012! ~ AMH 1.63 as of 4/2013!?!
    Him: 29 ~ perfect swimmers

    Laparotomy w/partial oophorectomy 8/2009 to remove cysts/endo.
    Stopped BCP 4/2010.
    Multiple clomid rounds from 11/2010 to 6/2011. ~ All BFN
    IUI w/clomid 7/2011. IUI w/clomid & injectables 11/2011 & 1/2012. ~ All BFN
    IVF:EPP 5/2012 ~ (4R, 3M, 2F w/ICSI). Both embryos txfrd. ~ BFN
    BCP to manage endo from 10/2012 to 12/2012.
    FET w/donor embryos #1: 10/2013 Cancelled
    FET w/donor embryos #1.2: 11/2013 ~ ET of 2 beautiful blasts on 11/27.
    Beta 1: 503(12dp5dt) Beta 2: 1035(14dpt) Beta 3: 3001(16dpt) Beta 4: 8503(19dpt)
    Twins with an EDD of 8/15/14! Team Purple
    G&B born 6/30/14 at 33w3d via emergency c/s.

    If you're wondering about my avatar...it's a fried pickle chip shaped like a fetus!

    image

    image
    2MamazInSeattle
This discussion has been closed.
Choose Another Board
Search Boards