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  1. #1
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    Default Awaiting a baby with Trisomy 21 or not..?

    Hi guys,

    I wasn't sure where else to post this, so please let me know if I am in the wrong spot!

    I am 24 in a few days and my fiance is 31 in August. I'm 25+4 today. Our nuchal was fine with a measurement of 2.0mm, nasal bone seen; bloods were bad: low papp-a and higher hcg. We were given a 1:89 chance of Trisomy 21. Declined an amnio as I was worried about miscarriage... We had a morph scan at 20 weeks and all finger bones looked the correct length, no heart abnormalities seen, no bowel abnormalities seen, nasal bone still present... Recommended for a 24wk growth/cardiac scan, which we went to and everything looked good. I just happened to go to Sogi, not knowing they had genetic counsellors (OMG so fantastic). I had previously been under a private ObGyn, but left her to try for a homebirth... and have ended up being booked into Mater Mothers haha. Mater has been no help and my previous Oby said there was "no point" doing a late amnio.

    I reminded her it was just so we could prepare ourselves when the time came. She still said no point. Sooo... we're at Sogi and they tell us they'd be more than happy to do an amnio at 34wks for us to prepare/know. They advised me of the risk of premmie labour, infection etc... I will be going back there for a follow up growth scan at 32wks and will have another chat to them at that time.

    I've been reading a lot of inspiring blogs and personal accounts of Mums and Dads who were surprised with a beautiful baby with Trisomy 21 at the birth... I have experience working with beautiful children who have Trisomy 21 and I know they are amazing, bright children who always give unconditional love to the special people in their lives.

    I'd just like to know your opinions on late amnios and Trisomy 21. Has anyone here had a result like mine and declined further diagnostic? Were you distracted throughout the birth because you just didn't know? I am finding the not knowing the worst. I would like to know either way for certain so I can just get on with it. We love our little Bean more than life itself. It's not that I care how many chromosomes Bean has... it's just not knowing, if that makes sense.

    And to all the parents of beautiful babies with Trisomy 21, how have you gone with breastfeeding, giggles, smiles, little milestones like that? This is our first baby, so we don't have anything to compare it to. Have you been able to manage blessing your little one with a little brother or sister? Have you managed to go back to work part time or work from home?

    My fiance is just amazing. He doesn't care for an amnio one iota. I'm not sure he knows the extent of extra care some little ones need, or that sometimes bubs can have delays because of Trisomy 21, but he doesn't want to know. He doesn't think it will change anything. That doesn't frustrate me because I need someone who shrugs and says "so what?". I'm sick of people who pat me on the shoulder and say "I'm sure YOUR baby doesn't have Down Syndrome ". They can't be sure. Nobody can. It doesn't help! I appreciate his realistic "So what if the baby has Down Syndrome? Not going to change how much we love the little bugger, is it?"

    I really appreciate any advice or yarns y'all can spin me, ladies Thanks for taking the time to read my babble....

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    twofornow  (06-05-2011)

  3. #2
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    Wow, before I say anything else, I just want to say what a fantastic attitude both you and your fiance have to this. So often these days, a dx of Down syndrome is seen as the end of the world, and an immediate reason to terminate the pregnancy. And while I know that's the right choice for some families, I also believe it's often done without much research into what having a baby with Ds means. So before I responded to your questions, I first wanted to say well done, and congratulations on your pregnancy!

    At 20 weeks pregnant, after my scan, I was read the report from the scan, which, in part, read "A tiny echogenic focus on the heart is noted, but this is of doubtful significance, given the absence of other risk factors". When this was translated for me, I learned that an echogenic focus can be a soft marker for Ds, but given my bloods and 12-week NT scan had been fine, it probably didn't mean anything. The Dr said they see it all the time, and was probably nothing. I didn't have any further investigations, based on this, but never put it out of my mind entirely. When I was in labour, I recall thinking about it, and thinking I wanted to have a really good look at her when she was born, to see if I could see anything concerning. And when she was born, I did. Nothing which really stood out, she just looked different to my other kids, different to what I had expected, just different.

    So after some conversation with the Dr who was on, he said we'd talk more in the morning. The following day, I was told that yes, the Dr did have some concerns that she might have Ds, and would like to send off some blood to find out. We then found the following day that the preliminary result had come back positive for Ds.

    22 months on, I have to say that it's nowhere near the tragedy I thought it was that day. Supergirl is a delicious, energetic, entertaining, fun-loving little cherub, who wins over everyone she meets.

    We have noted delays, as expected, with her milestones. She is not walking yet, although is "cruising" around the furniture, and will walk holding onto our hands. There is a pretty broad range of "normal" for kiddos with Ds, as I'm sure you've read. I know of some kids with Ds who are 3 and not walking yet, and met a little girl last week with Ds who walked at 11 months.

    She doesn't talk much. She says maybe three or four words, but we're the only ones who know what she's saying. We have been doing sign language with her, and she signs about eight different words.

    We have been very lucky with her health. She has had no cardiac issues (something which affects around 50% of kiddos with Ds). The main thing we've had issues with is respiratory viruses. She was in hospital several times last year with various respiratoty viruses. We are hoping this winter will be easier, as she's a bit older and stronger.

    I returned to work part-time just before she turned one. I are working three days a week, and couldn't work much more than that at the moment. I live in country SA, and travel to Adelaide once a fortnight to attend an Early Intervention group at the Down Syndrome Society. We also have regular physio, speech & OT. So these various things take up a bit of time, but they are all really valuable, for both her and I.

    Supergirl breastfed with no issues at all - the main issue I had was stopping when I went back to work. She was a stubborn little bugger, and did not like the bottle, but took to it fairly quickly when it was the only option.

    She is our last child, but that was always our intention. DH and I both have two children already from previous marriages, and we were only ever going to have one more. Of the 6 families in our EI group, two have since had another baby, one is pregnant, and one more is trying. So I'm almost the odd one out!

    I'm so glad you've found some of the lovely blogs out there, but also wanted to direct you to this one, if you've not found it yet. This is my personal favourite, and is written by a lady who adopted two little ones with Ds, about a year apart in age. She's had a different journey to mine, but I love the blog, because she's so positive about the challenges she faces, without being overly sappy and preachy. (I also love it because she posts lots of pics, and her kids are DAMN cute): http://pudgeandzippy.blogspot.com/

    OK, I think I've answered all the questions I can from your post. Please feel free to ask more questions, or PM me if you'de like to chat privately.

  4. The Following 4 Users Say Thank You to Fox in Sox For This Useful Post:

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    Im only 22 weeks so haven't had the 24 week growth scan. Like you, my blood work showed a high risk of trisomy 21 at 12 weeks, the scan was fine. My DP and I decided against an amnio as termination was never going to be an option. My 20 week scan showed that baby was going well and no soft tissue markers were present. I have not been offered another amnio so can't comment on that. Instead I am staying positive and hoping that my little girl arrives healthy and happy to term. If that means with downs then so be it. I'm just so relieved there were no heart etc abnormalities on the scan. Good luck with your decision xxx

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    daisymae & Fox in Sox, what inspirational mothers you are

    I have no experience with Trisomy 21, but know to some degree the struggles of a special needs child as my DS has autism.

    Wishing you both the best of luck & support xxx Your children are very lucky to have you

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  9. #5
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    Thankyou soooo much, ladies!

    I have to admit, Fox... because I just 'wasn't expecting' any news of that kind at my nuchal, I was so shocked. I'm such an emotional person and we spoke to the sonographer (who was pregnant herself) for over 30 minutes about what this meant for us, but I was so shellshocked that I started to cry at the end of it. It didn't sink in. After that, I was completely inconsolable. I felt horrible because I knew I loved my baby, but I just wanted everything for him/her and I didn't want him/her to suffer and have any complications.

    Dutchie (my fiance) didn't really seem shocked, surprised, concerned or anything. He just hugged me and almost didn't know what all the fuss was about..? We went to see my GP straight after. She was unavailable, so we saw someone else who was helpful... I asked her to be completely honest with me and tell me what our options were. She explained them (or our lack of options, really!) and it was then I did not feel the need to continue to seek any diagnostic testing.

    I took quite a while to come to terms with what we were facing, but as Bean has grown bigger and stronger, I've been reassured that whoever he/she is, Bean is completely with it! He/she is strong and absolutely gorgeous on all our scan pics. I have just been so proud lately that I haven't really had the time or energy to be 'concerned' about chromosomal issues.

    I feel pretty special to be blessed with Bean and Dutchie. Dutchie might be naive and clueless sometimes, but in this case, it's working for him, not against him. I too do not cast judgment against people who seek amnios and/or terminations for Down Syndrome. In fact, I completely understand the reasoning. I just knew that it wasn't for me. I couldn't do that... and on the 0.1% chance that the diagnosis was wrong, I'd just never be able to live with myself. This pregnancy was a surprise to us and I wasn't ready when I fell pregnant. Finding out at 4 weeks, I was unable to go through with a termination then...

    Little Bean made me fall in love and I've been under the spell since then!


    I'm caught between two worlds about a late amnio... I would really like to know before Bean is born, but then again, I'm 25 weeks now. I've waited this long, I can wait until Bean is born for him/her to be tested for DS. My worries and uncertainties have been a lot better since I decided to tell people about our possible DS diagnosis. It went from being a horrible, 'death sentence' type thing to just being something that might be part of Bean. If anyone out there is dealing with this, I highly recommend telling people and owning it... And ignore those people who try to lull you with "it won't happen to you" smiles.

    It's people & families like you, Fox, that inspire me to keep going and just wait it out. At the end of the day, it doesn't matter how many chromosomes Bean has, I guess I am just doing the old "which way" dance! But you had it confirmed at birth and your story is so positive. I am so glad to her your gorgeous little girl is doing so well! You sound absolutely involved in everything possible and that amazes me. I would like to be doing half the things you are!! I would definitely like to start getting in touch with DS support groups; even if Bean doesn't have DS, it's still something I'd like to be involved in - I know I probably don't belong, but I feel such a strong connection to the DS community now. Like a band of brothers/mummies!


    Ollylu, my absolute best wishes for your 24wk scan. You will be amazed at the difference in growth from 20 to 24wks! At the moment, I am in a similar mindset. My biggest concern was complications from DS and so far, Bean is kicking butt at mediocrity! Glad to hear your little one is showing up beautifully on all your scans. I think the biggest heartbreak would be to see my little one struggling with health issues. We made the decision at 12 weeks that termination was not an option, so we are now just concerned for the wellbeing of our little one and are hoping for a full term delivery too. I have been told that my low PAPP-A puts me at risk of premmie labour, but we're not having a bar of that. Bean loves kicking the crap out of me way too much, so we're sticking in there for a natural delivery (?!?!?!!?) after 37 weeks, please and thankyou very much! Lol. All the best for your 24 week scan... what date is it? I'll be thinking of you!! xxx.


    Thanks, 2made3 Your dear little one is lucky to have you too... I must say, I love the honesty of both kiddies with DS and autism. I have worked with a lot of kids with both and I never get bored of hearing little ones on the autism spectrum asks the questions everyone else is too afraid to. They are just beautiful, intelligent children and I'm guessing your DS is no exception.



    Thankyou sooo much ladies, you have absolutely made my day! You're all lovely and gorgeous and your LOs are lucky to have you. Please keep in touch


    PS.
    Fox. Omg. That blog is soo uber CUTE. I just showed DF and he giggled at all the gorgeous expressions those two LOs have!! The blog I have been reading of late is: http://www.kellehampton.com/

    Nella's birth story is here: http://www.kellehampton.com/2010/01/...rth-story.html and it is just amazing because her photographer friends captured it on film. She was unaware of her beautiful daughter's DS until her birth and it is amazing to see the turnaround she has within a few short pictures xoxox

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  11. #6
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    So lovely to see such supportive, intelligent women on here. You are all an inspiration.
    Daisymae thank you! I've experienced much of the same emotions you have. It was a very frightening time when I was first told as I felt so confident after the 12 week scan. My blood results arrived a day later so my gp delivered the news. I'm glad your fiancé has been so supportive. Mine has reacted with the typical male "shut down". It's a shame, but as I'm feeling more confident in myself I don't miss his support.
    I've been lucky enough to work some amazing young adults with downs and that makes things a bit easier. Like you I'm preparing emotionally that my baby may need extra support and I believe this is helping me prepare. I'm not what I would do if offered another amnio at my next scan. It's a difficult decision. I wouldn't want to risk an early delivery , but am unsure if the amnio poses an added risk to this as all the data I've seen are in cases performed before 20 weeks.
    My next scan is on the 19th when I'm actually almost 25 weeks, so fingered crossed.
    Please let us know how you go in your decisions. My thoughts are with you and your family. Let's all hope we have healthy bubs!
    Xxx

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  13. #7
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    In my person opinion, I would have the amnio.

    The main reasons I suggest this is if there is an abonormality, you will be more prepared yourselves emotionally at the birth, and also can work out strategies between yourselves beforehand to help deal with the questions or comments family members and friends will make. You can also start to prepare for the thick skin that unfortunately you will need to grow when you have a child with special needs: people staring at your bub or questioning your child's behaviour. It can be difficult enough with a 3yo who's just been diagnosed, let alone a newborn baby. If your child does have special needs you can also start contacting onto all the support networks now, whilst you're are not having sleepless nights with a newborn and are unable to think straight.

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    Daisymae like you I had a good NT scan but my trisomy 21 results gave me a 1 in 95 chance with a low PAPPA as well! My 19weeks scan went well with no soft marker signs and I also turned down the amnio as well! I am 22 and my partner is 28 we also have a healthy 18mth old DD.
    Has the doctor broken down ur NT results and actually told you what the PAPPA means? I was told that it could mean early onset Pre eclampsia and also a smaller baby so they have me on 4 weekly scans as baby was actually measuring small at my 19week morphology scan.

    I feel better to know that someone else is going through exactly the same thing and I'm not alone here, I have my 24 week scan on Thursday so I hope it goes OK!

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    Ollylu, I think that is a typical 'male' reaction. Not to rag on men, but I know there is a bit of a difference in what we as pregnant women/mothers go through, to what they do. I have found that simply because Bean is in my tum and Dutch can't feel all the things I can, sometimes he takes longer to react to things and sometimes he doesn't react at all. Maybe your partner has certain feelings about it all that he feels he doesn't wish to burden you with because he can't imagine how you feel... or perhaps he doesn't even know how to articulate what is going on inside his heart and mind because it's just not something he was anticipating. I know I have had to squeeze Dutchie for his true feelings many times during this pregnancy. But it isn't an easy thing for any father-to-be to go through, and sometimes they just don't know what to do. Like us mummies-to-be, they only ever wanted everything for their LO. The late amnio wasn't specifically offered to me, but I asked if it was a possibility, as I had previously been told they're never done. Apparently you have to ask multiple people, multiple times to get answers lol. There is a risk of preterm labour and there is a risk of infection. It was explained to me that basically, these risks were the same percentage as at 16wks. Ie the risk of miscarriage from amnio at 16wks is 0.5% with someone who is an old-hand at the procedure. With the 16wk amnio, there's also a risk of infection. With an amnio at say, 34 weeks, the 0.5% risk becomes a 0.5% risk of preterm labour and there's still a risk of infection. The only difference is that if complications do arise, they deliver the baby. They told me that a baby delivered at 34wks wouldn't be going straight home with me, but would probably spend a little time in the NICU, but would otherwise come out relatively unscathed. Lung function should be good etc. The risks are always going to be there, but at least at 34wks, your baby can just be delivered as opposed to miscarrying.


    Alysha, while reading your post, it just ran it home to me how ridiculous one dr's statement to me was: "You're under 35, why did you even have this testing done????". As I 'explained' to him with a scoff of disbelief, it is such a misconception that only women over 35 are ones at risk of Tri21 probs!! The fact of the matter is that women between 18 and 34 have the most babies, therefore we have the most babies with DS! Argh, the medical profession! Sorry, but it's so annoying!! The only dr to thoroughly and concisely explain what a low PAPP-A means has been my GP. A middie at Mater ragged on me for seeing my GP so much because "GPs don't know anything". Hello, howcome my own private OB never said anything to me about PAPP-A?! My GP explained that I was at risk of pre-term labour and IUGR and recommended I get scans every 4 weeks too. I had my morph at 20 weeks and a growth and wellbeing scan at SO+GI at 24 weeks. My morph came back with results between 50% and 110% averages and my 24 wk scan came back more within the 50th percentile for growth. They were absolutely wonderful and completely happy with my progress and told me I could skip my 28wk scan. I have been recommended for another scan at 32wks, so I booked that in straight away. The middie and an OB (who had never seen me and had not seen test results/read my file) told me I didn't need another scan at 32 weeks.

    I have everything crossed for your scan this week! If they don't seem to make a move to check your uterine arteries and your cervix during the scan, hound them for it!! They should be checking your cervix to make sure it's not thinning out in preparation for premmie labour and your arteries play a big part in growth retardation. I hope your little one is absolutely flourishing in there! Have you found out the sex or waiting for a surprise? You are 100%, unequivocally NOT alone in this!!


    Bgbgbb, I appreciate your honest opinion. The reasons behind me considering the late amnio are really just to be able to be prepared at birth and to be able to get in touch with organisations pre-birth. I know I'm saying this not having had a child with special needs, but I really couldn't give two hoots what anybody else thought of our baby. Yes, I will get irritated at the barrage of questions and other children asking their parents why my baby looks different etc. But I will not be risking an early labour or infection so I can inform complete strangers about whether our baby has one more chromosome. It would just be for us. Well, for me, really. Dutchie doesn't care whether we know before birth. For me, it's a mental preparation. I have told most people about our high risk and to me, that's good enough. I don't feel I need to have an amnio to find out for sure just so I can tell them. It's not their baby and they won't be there in the middle of the night feeling guilty about causing a premmie labour. I really don't know what to do... I feel like if I do trigger an early labour and Bean is premmie, then I will forever feel this guilt about not being able to wait, when poor Bean just wanted to keep on cookin' in there, completely undisturbed!

  18. #10
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    DD was given a 1:4 chance of Spina Bifida, and we were told to abort (I refused all further tests) especially after her twin brother died, as she 'wouldnt make it to term'
    We chose (both very informed as DH has medical and carer experience, and my younger sister has a disability) to continue no matter what.
    DD was born at 41+3 with no issues what so ever (we have seen specialists for her life so far, and they have agreed there are no issues, in fact she is developmentally advanced).
    Even with such high odds, every thing was ok. If I am blessed with another pregnancy we wont have the testing done (if possible)
    Best wishes!

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