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2MamazInSeattle
member
Harmony Results! (long)
2MamazInSeattle
member
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!
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
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
This discussion has been closed.
Re: Harmony Results! (long)
************ 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
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!!
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!
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
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!
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
::: 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/
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
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:
***PAIF/SAIF always welcome***
***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!