July 2018 Moms

Genetic Testing Results Thread#2

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Re: Genetic Testing Results Thread#2

  • Oh no @angleyeskkhr so sorry for the added worries and stress- I’ll be thinking of you! 
  • @angleyeskkhr thinking of you! I have a cousin that was born with a severe cleft lip and palate. He’s 24 now and you can barely tell he’s had so much work done. Hoping it’s nothing, but doctors are so great at correcting those these days, I’m sure everything will be fine! 
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  • @angleyeskkhr I’m sorry you have to go for more testing and see the high risk specialist, that’s so stressful. I hope your little is okay, but a cleft is definitely not a huge deal, one of my besties was a cleft baby and you totally can’t tell at all now!
    run along Pond...2015/12/10

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  • Ok. I was able to actually read the report. It says cleft lip and possible cleft palate. It also said her lateral ventricle was in the upper margin of normal and needs to bend monitored. So now I’m freaking out about that as well. Well, I’m trying NOT to freak out. 
  • I'm so sorry @angleyeskkhr. I can't imagine how hard it must be to learn that, but as others have said, clefts are repairable and hopefully there will be no other issues aside from that. I'll be thinking of you. 
  • Sorry for your worry @angleyeskkhr.  I will be thinking of you and I hope you get some answers soon!
    Meagan
    <3 Married 6.12.10 <3
    DS 11.8.12
     Baby GIRL! due 7.4.18
  • Ive been off of here for a while. I needed to take a break because of some stress and issues we are having. We found out at our anatomy scan that baby girl has heart defects. The perinatologist is concerned. We met with him the day after for a consult where he explained what he was seeing. He told us that she has a 2 vessel cord. By itself it isnt always concerning, but because he is seeing the heart defects it is more concerning. So far he can tell she has pulmonary stenosis-the pulmonary artery is constricted causing there to only be a trickle of blood to the lungs instead of a normal flow, a vsd or ventricular septum defect-where the septum between the 2 ventricles is showing a defect or hole....he said this is the most common heart defect known. She also has an overriding aorta, where the aorta is coming out and on top of the heart laying over the vsd. It is in the wrong spot and we cannot tell if there is a hole in the bottom part of it where the vsd is. He believes a 4th defect will be showing eventually, thickening of the lower right ventricle. This happens because kf the pulmonary stenosis and the venteicle having to work harder to pump blood. With all 4 of these things, it would be called Tetralogy of Fallot. As long as there arent any other underlying conditions, these are all fixable....but by open heart surgery shortly after birth. He stated that all of this can change at each appt which is why he wont give a diagnosis yet. Im scheduled for a fetal echo and consult on April 17th. From there we will be referred to a pediatric cardiologist. Most likely we will deliver here in Toledo and then she will have to be transported to Cincinatti Childrens shortly after delivery. Thats about 3 hrs from us. We have know actual idea what will happen from here but this has been one hell of a roller coaster. From 2 years of trying to fertility meds to a positive first tri screen that came back negative, insulin 4x daily and now this...im completely exhausted, both physically and  emotionally. It is only going to get harder from here. Ive had to take time away to try and process everything. Hopefully i can get back into this board and being here to go through all if this with you all! I hope everything is going well with everyone!
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • @busymommy23 What a roller coaster! I can’t imagine the stress you and husband are going through. Glad to hear all are fixable but still not something any mother want to hear. Please keep us posted but take your time if needed! Keeping you in my thoughts. *hugs*
  • @busymommy23 you are in my thoughts and prayers. I'm sorry for all the stress this is putting your family through after everything you've been through to get here, but glad to hear all things are fixable and they are continuing to monitor. Hugs!
  • @busymommy23 I'll be thinking of your family and, especially, your baby girl.  We're glad you're back on and we'll all be here to support you!
  • @busymommy23 so sad for you and this difficult road you’ve been on. That’s great your doctor sounds positive- I’m sure it’s still so hard to envision your baby undergoing a surgery. My thoughts are with you and hope you have tons of supports around you!
  • @busymommy23 ((Hugs)) my SIL took care of the little babies who needed open heart at children’s in Chicago. 
  • @busymommy23 a friend had also open heart surgery for her little thankfully he is thriving but it's so scary. Thinking of you and baby girl and hopefully everything is ok!
  • @busymommy23 ToF must be such a scary thing to hear, I hope that the cardiac defect is isolated and there are no other issues. I know there is a ton of support out there for heart warriors, maybe your perinatologist knows of some local parents support groups that might be helpful to you if that’s something you’re interested in. Thinking of you!
    run along Pond...2015/12/10

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  • @busymommy23 I’m so sorry you’re dealing with all of this.  Our baby girl, Macy, was in the NICU at Cincinnati Children’s (we actually live in that area) and it is an amazing hospital and I have no doubt they will take excellent care of your baby girl.  Macy had several VSDs (among many other issues).  I know how stressful all of this can be.  I’ll be praying that you can find some peace and relief from the stress and that there aren’t any underlying issues to make things more complicated.  Big ((hugs)).
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
    BabyFruit Ticker
  • All the creepy internet hugs @busymommy23. What a rollercoaster. It sounds like she’ll be in good hands, I hope there are no more surprises and you have all the support you need and then some. 
  • @busymommy23, I am sorry to hear of your less than happy news. But I understand the roller coaster of emotions. All of my tests have come back negative/low risk until our ultrasound as well. It took almost 10 years to get pregnant with baby 2 (baby 1 who is now 13 also had severe complications during pregnancy—so I was looking forward to an uneventful pregnancy). I haven’t met with my specialists yet, so I’m still in the “pretty clueless” stage, but I’d be more than happy to talk/vent with ya. 
  • @angleyeskkhr I’m sorry the news was less than ideal. Hoping the rest of your sweet girls testing comes back normal and the cleft is an isolated finding. Thinking of you  <3
    run along Pond...2015/12/10

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  • @angleyeskkhr that’s awesome!!!! Super happy for you!
  • We got the preliminary results from the amnio—everything came back NORMAL!! Yayyyhh. Now we are just waiting in the gene sequencing for small chromosomal deletions and I think the more rare syndromes. This news has been the best part of my day and it may still be morning, but it’s gonna be hard to top!
    Great news @angleyeskkhr!!
    run along Pond...2015/12/10

    Lilypie Premature Baby tickers
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  • So glad to hear @angleyeskkhr!!
  • Thanks y’all. I’m super excited. Between that and yesterday my daughter had her benchmark in reading and only missed 3 questions...I’m in cloud 9
  • @angleyeskkhr yay! that's great news!!! 
  • nimmlenimmle member
    Just got my bill for the Panorama test. Insurance denied it (no surprise there), and the bill has ended up being reduced automatically to $449 from the original $8,000. I've heard of people reducing it down even further to $200 or even more. I'm waiting for the billing specialist at my doctor's office to get in and talk to her before calling Natera directly, but has anyone else had recent success?
  • @nimmle I called Natera directly and they gave me a 50% discount.  My bill was for around $650 I think?    They also offered to set up a payment plan and said I could choose the amount I wanted to pay each month.
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
    BabyFruit Ticker
  • wildtotwildtot member
    @nimmle with DS i got a similar bill despite ob telling me it shouldn’t be more than $200. So they advise to call Natera and they were able to fix it. To be honest i forgot to pay it and when i finally tried to pay it months later I had no balance. Not sure how that happened, maybe just luck. 
  • nimmlenimmle member
    @wildtot Lucky you! That's what happened to me with my Quest bill for my genetic carrier screening. Insurance covered like $300, but I was on the hook for an insane amount. They resubmitted with new diagnosis codes and got a little bit more then just closed the bill out. 

    I talked to my dr and they said no more than $200, so I called Natera and they settled for the $200. Closed it out this morning...should have waited like you did lol.
  • wildtotwildtot member
    @nimmle glad you got it adjusted! Girl i was scare of going to collections because i kept forgetting and then we moved. I just got lucky for sure!
  • Ugh, insurance companies always need someone on their a** to whip them! Otherwise they'll take all the money (I mean, even more than they already do
  • @wildtot It's super strange but the same thing happened to me with DS. I forgot to pay it and when I finally called, it had magically disappeared? Maybe that's more common than we think?
  • wildtotwildtot member
    @foxbaby2016 could be. It was weird when i asked what happened to the balance they couldn’t even tell me because they didn’t know. Wish this would happen to my other bills lol
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