Heart Defect and Down Syndrome (or other possible chromosomal abnormality)

Discussion in 'Gestational Complications' started by Iluvmommyhood, Nov 16, 2011.

  1. Iluvmommyhood

    Iluvmommyhood Member

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    So I had the amniocentesis done today after the doctor gave us a 1 in 4 odds of down syndrome. He also did a detailed scan of the baby's heart and found that the baby has a significant heart defect that would require surgery at some point after birth. I believe it called it an atrialventricular defect? He encouraged us to follow through with the amnio because he said it is also commonly associated with downs or other chromosomal abnormalities and being aware of those (if they exist) would help us best prepare to treat baby. He is doing a rapid test, which he said would allow us answers from some of the more common chromosomal abnormalities by Friday (3 days from today) and a complete test that will take 7-10 days. He said that if the baby has a chromosomal abnormality that it lowers the prognosis of the surgery once the baby is born.

    I guess at this point I don't know what to think, what to do... My husband is unfortunately of no support at all. I'm hopeful and scared... especially when the doctor began talking about termination as an option if the results come back with an abnormality. I just never thought I would be experiencing this now, being 25, and fortunately having one healthy little boy already. Does anyone know what causes the heart defect? I've been there and got over the fact that if there is something chromosomal that I didn't cause it, but now I wonder about the baby's heart, if I did something to create that? I don't smoke, drink, or do drugs, never have. I'm relatively healthy, active...

    Any insight, personal experiences, or support would be greatly welcomed and appreciated.
     
  2. Samie18

    Samie18 Well-Known Member

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    Don't blame yourself for this sometimes these problems just happen.
    If there is a chromosomal problem then often heart problems are all part of this.

    Try and keep positive :flower:

    :hugs:
     
  3. SabrinaKat

    SabrinaKat Delighted Mum to Finn

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    It's definitely NOT your fault; many times the chromosonal (sp) problems are in the egg/sperm and have NOTHING to do with mum/dad....as for the heart, it is part of the development that is influenced by chromosones, hormones, etc., and again, not your fault!

    best wishes
     
  4. Iluvmommyhood

    Iluvmommyhood Member

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    We just found out for sure that baby has down syndrome too. To be honest I don't know what to think and feel... Just a few things are scared, disappointed, confused about what to do/what to think, while still in love with my baby. I have a 21 month old son now and a husband who is completely insensitive and not supportive of this pregnancy.
     
  5. AlwaysPraying

    AlwaysPraying Mom of two!

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    I'm so sorry this is happening. My first boy had trisomy 13 (down syndrome is trisomy 21). I'm all too familiar with defects of the heart and many other areas of his body. :( That aside, it sounds like your up for a challenge. Try to be calm with yourself and see what it is you feel. I'm sure "confused and scared" is probably what you feel most! Our first pregnancy almost tore us apart, I really wasn't sure if we would survive. Things like this bring out sides of each other and ourselves that we never knew existed. Men process things SO differently when it comes to pregnancies as well. They are generally detached until delivery, not in a bad way, but it's only an idea to them until baby actually comes along. For us, we are mothers the instant we find out we're pregnant. From the first days our bodies change and we change right along with it, emotionally.

    That being said, don't feel pressured to do anything at this moment. I did a lot of research on what other mothers of T13 babies did, in my case, 95% of those babies didn't make it to birth or survive the first day, so our case was a little more clear, sadly.

    Babies with down syndrome are all over the map. Some have major issues, some less so. It's important to know what physical issues your baby has at this moment (you'll never know their emotional capabilities until later in life however). It's not as simple as accepting you'll raise a special needs child. Like all children there is a total variable of challenges you'll face.

    The only real thing I can say, is with us....almost from the start, I knew where we'd end up. It took a long time, lots of heart ache, lots of questions, research and advice, but in my gut I knew, and I ended up right there. It's possible you know what you need to do as well. And, I do promise you, whatever you do decide is absolutely the right decision, not matter what, no question.
     
  6. try4girl

    try4girl Mom of 2 soon 3

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    I agree with AlwaysPraying my first was also a Tri 13 (a boy I lost a 5 1/2 gestation) and my second is has a double X chromosomal, club feet, radioulnar synostosis and PDD-Nos my 3rd son amino came back normal. I have to tell you it was so hard learning the results but let me say a few things one being my ex-husband just kept telling me it will be ok then when our son was born he told me he didn't want to "deal" with a kid with special needs second I see that you live on the east coast and I know that there are some amazing places out there that will help you. Here are a few websites that I do not know if you have found but I know for me the more information I had the better I felt. www.ndss.org/ www.nads.org/ and https://downsyndrome.com/ If you ever want to talk send me a message. Good Luck and just so you know being a parent to a special child is very challenging the also so very very rewarding
     
  7. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    I am so very sorry you are going through this , I hope you decide what is best for you and your family..
    All The Best xoxox:hugs::hugs::hugs::hugs::hugs::hugs::hugs:
     
  8. Nathyrra

    Nathyrra Levi's Mammy

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    You often find alot of people will say 'sorry' when you tell them. I'm not going to be one of them though, I will say Congratulations on your wonderful wee miracle in your belly.

    You will feel every emotion under the sun, that's natural. Don't deny your feelings. It's what makes you human, and ultimately it's what makes you stronger. 50% of babys with DS have heart defects. My son has a small hole which is monitored every 3 months. The heart defect comes with it sometimes, it's nothing you've done wrong. It just is what it is. I was 26 when my son was conceived. I'm healthy, and have never taken drugs or cigarettes and I'm teetotal. It took along time to stop blaming myself regardless. I will tell you though, most of your fears will be based on the unknown. When you're there living in the moment, everything will seem less big.

    Just because your baby has a heart defect also doesn't mean that he's going to be more affected, or less able. My cardiologist even went as far as to say that those types of heart operations are done so frequently now and with such skill that it's almost 'routine' It's different when you're living it yourself I know. But the greater perspective of the doctor at least made me feel more settled if my son ever does need his corrected.

    I will say, like I do at every opportunity :D that my son is an absolute angel. He's a wonderful baby, he's so cheeky and smart (yes smart) and is the most wonderful wee boy a mother could wish for. Everyone that meets him falls inlove with him. And I'm so so proud of him.

    It's a process, it's ok to grieve, and oftentimes it takes men alot longer to come around to the idea. My husband was a bit distant for a few months which was difficult in the beginning but he adores that child. I'd say it was the definining moment in his life when he became a man.

    Try some reading for now of Kelle Hampton's blog. It's how I started, and it eased me into the heavier reading later. Surround yourself with positive stories, this is a different road but one no less worthy.
     
  9. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    I am sorry she is going through this and has to make a choice that isn't always going to be the same for you, me ,her or us..:hugs::hugs::hugs: My aunt is 57 and has downs and let me tell you I love that little ladybug more than anything, but it comes down to you and how you feel and what you can handle, that is all that matters. And yes I am sorry for a choice you have to make not for the little miracle in you ..XOXO All MY Love :hugs::hugs::hugs::hugs::hugs:
     
  10. Nathyrra

    Nathyrra Levi's Mammy

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    I'm sure the OP knows what I mean with the sorrys. It's not for a lack of sympathy that I say otherwise. It's a tough journey, and it's sometimes hard in that dark place to tell the difference. I know, it happened to me. My sympatheses along with, I'm sure, most peoples sit only with the fact that it's not an easy place to be with the lack of support from your own family network. Everybody is very different, I know this. I just know when I found out I treasured the positives the most.
     
  11. rock_chick

    rock_chick grieving for my bubba :-(

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    I just wanted to wish you well...

    I am going through a very similar situation atm - my baby had a 10mm nuchal fold at 20 weeks and at my growth scan on Monday the docs discovered a hole in the baby's heart along with some fluid in the lung which together indicates a chromosome abnormality like downs syndrome...

    I know everyone is different in their views and wishes and what they can cope with....I just hope that you feel a bit better now and more positive xx

    This is my first baby after a series of miscarriages, and deliberately refused any tests as husband and I felt we would welcome this baby into our hearts regardless of the needs it may bring with it...........

    hope you are ok xxx
     
  12. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    I wish you all the best .. Good Luck XOXO:hugs::hugs::hugs::hugs::hugs:
     
  13. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    I was not trying to have a problem with you, I actually admire you for your choice..XOXO:hugs::hugs::hugs::hugs: I just didn't want the op to think that when people well me anyway say I am so sorry that I mean I am sorry for the news and not for the choice she must make.
     
  14. Nathyrra

    Nathyrra Levi's Mammy

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    Oh no, I wasn't being defensive. Sometimes it's so hard to convey emotions in a text so no worries! :hugs: I just thought for a second that people might have thought me insensitive for not saying sorry. But now I also see that you felt the same but opposite. I understand your view completely and I could have worded myself better, and wasn't trying to demean other peoples comments, though I can see in hindsight it didn't come out as sincere as I'd hoped! :hugs:
     
  15. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    Thanks for understanding :hugs::hugs::hugs::hugs::hugs:
     
  16. twinmomma

    twinmomma Member

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    Hi there I just wanted to offer you my support. I'm currently going through something very similiar to you. I had to have a cerclage placed on tuesday after my cervix measured at 1.5cm. Before the surgery we also found out that one of our twins has a heart defect. I will be 18 weeks on Monday and his heart is still just too little to tell exactly what is wrong. I know how hard this is. Hang in there and keep me updated.
     
  17. Andypanda6570

    Andypanda6570 3 Boys and an Angel Ava

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    Sending lots of love.I hope things turn out wonderful for you..XOOOXO Thinking of you :hugs::hugs::hugs::hugs::hugs::hugs:
     
  18. Rigi.kun

    Rigi.kun Mum to Teddy

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    :hugs: that would be hard news to hear.

    I don't know much about downs. But I was born with a ASD and VSD, and a friend's baby was born with both as well. While most holes that are ASD do eventually close up by themselves, some do require surgery (like what happened to myself and my friend's child) but not many babies die from ASD's anymore. And it's thought that in America there is about 2000 babies born each year with an ASD.
     
  19. vix1972

    vix1972 Well-Known Member

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    I have round out today that my baby has ds. I am in hospital as i Am too distressed. The phrase no shit springs to mind. Want as much info as is possible on ds and raising à ds child but am heartbroken as had mmc in jan at 12+ weeks and cant take much more. Oh sees ds as à death sentence for all concerned.
     
  20. beccad

    beccad June Bugs

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    Down Syndrome is not a death sentence. There are other trisomy disorders out there where the child won't live for very long after birth, or maybe just for a few weeks or months. My cousin had a little girl born with Trisomy 18 (Edwards' Syndrome) and she lived for just 10 weeks.

    There's such a huge variation on the DS scale - some will require supported living their whole lives, but others aren't affected so much. They can go to school, get jobs, live relatively independently as an adult.
     

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