Down's Syndrome

sne0501 · December 2014

I got a call Monday that our genetic test results showed an increased risk for Down's Syndrome. My doctor said there's a 5% chance of getting this result and my baby NOT having it. So of course I've been a wreck. It doesn't make sense. My husband and I are both twenty, have no family history of it, and I don't smoke. I keep studying her sonograms and stuff now because I feel like this actually might be true. We just lost a baby 9 months ago and now this is happening...

AmyCee · December 2014

.

Trampslikeus · December 2014

Downs has nothing to do with smoking, and only VERY rarely (less than 5%) has anything to do with genetics (family history has no correlation). While the risk increases with maternal age, it is a complete myth that it happens "less often" with younger parents. There is also very little you'd be able to see on a sonogram at this point to identify Downs, other than possibly having increased NT width and possibly lacking nasal and chin bone structures, but those are not 100%.

It is a completely random chromosomal mutation. You did nothing to cause it, and there's nothing you could have done to prevent it.

I know its extremely difficult to face, and I'm sorry you got this news. Downs is not a death sentence though. This is not the same as losing a baby. I've said this before on here, but doctors, in general, do a very shitty job of educating parents-to-be about Downs. Stay away from Dr. Google - there is a lot of cruel, outdated, and downright WRONG information out there. A whole lot has changed in the last 10/15 years in terms of prognosis, life expectancy, services, vocational/occupational potential, school life, etc. I strongly suggest looking up your local Downs Syndrome Association and getting in touch with them. They have excellent support and resources to help counsel, console, prepare, and support you going forward. The children I treat with Downs are the light, love, and joy of their parents lives JUST like a chromosomally typical child.

sne0501 · December 2014

Thank you for the information! I guess the biggest thing I keep thinking about is how she's not going to look like us. I feel like you always imagine your child being the perfect combination of you and your husband and now she won't look like either of us. I know I'll be way too scared to try again after losing my first and my daughter having this. I feel like I'm almost not meant to be having kids.

taboullio84 · December 2014

I can only send hugs momma . I think trampslikeus hit everything . my t&p are with you.

Trampslikeus · December 2014

She may still look just like you

Here is a very helpful blog post:

https://sippinglemonade.com/dear-mom-with-a-prenatal-down-syndrome-diagnosis/

(more than just this post, her whole blog is well done and we have a few of her posts printed out on the bulletin board at work)

Sunny B · December 2014

Trampslikeus said:

She may still look just like you

Here is a very helpful blog post:

https://sippinglemonade.com/dear-mom-with-a-prenatal-down-syndrome-diagnosis/

(more than just this post, her whole blog is well done and we have a few of her posts printed out on the bulletin board at work)

This is absolutely beautiful. I'm crying. I'm a Special Education teacher and I have met and fallen in love with many students with Down Syndrome.

OP- I'm sorry you are struggling. I'm sorry you are going through this. I hope that the info that tramps posted can help you.

sne0501 · December 2014

Thank you, that was an amazing read!!

Sunny B · December 2014

sne0501 said:

Thank you, that was an amazing read!!

I'd also suggest therapy. You shouldn't beat yourself for any feelings you are having! You're human.

beckynsean11 · December 2014

Tramps has done a great job of covering it already. I can assure you from children I have met, there is still some resemblance to the parents in so many cases. I think looking into a local support group is a fantastic idea. Hugs!

janat1717 · December 2014

This makes total sense. It's a fear of mine too but as people say, it just happens sometimes. I used to volunteer at a riding for the mentally and physically impaired program. The kids were so happy. There are so many fun activities now for them. Keep in mind you could be one of the 5%, plus docs are wrong sometimes. If not though be the best parent to the kid and they will have a better life than a lot of the "perfect" kids in the world.

leenziepops · December 2014

You have some great responses from our awesome Bumpies. So just wanted to give you a ((hugs)) sorry you have to go through this stress.

deutschbaby · December 2014

I would like to encourage you to join the Facebook group that formed from this group. There is a mom there with a son who has Downs. His diagnosis was a surprise at birth. She is an amazing woman and has a wonderful perspective and would be able to give you some great advice.

If the FB group isn't your thing, find a support group. There are many people who have been there and can help you.

T&P for you!! I'll be thinking of you!

hazeldublin · December 2014

Trampslikeus gave an amazing reply and I hope it gave you some comfort. I'm sure your stressed and scared just want to send some thoughts your way.

LolaBailey12 · December 2014

My T&Ps are with you as well. I'm a special education teacher and my life has been brightened by many children with Down's. Last year I read a book called Bloom by Kelle Hampton, it is a memoir about coming to terms with her daughter's Down Syndrome diagnosis after she found out at the birth. I thought maybe it would help you to read it and hear about her journey. Best wishes for your pregnancy and your LO.

mrsfillier · December 2014

i am so sorry that you are.going through this. I was in your shoes three years ago and further testing confirmed that my son had Downs Syndrome.
i felt like the whole world was turned upside down, and the vision that I had of my baby, of our family was complwtwly shattered.
Unfortunately for my son the actual Downs Syndrome was just one of many issues, and unfortunately we had to say goodbye, but my story seems to be in the minority and many children with the diagnosis live full happy and healthy lives.
I want to send you all the hugs in the world right now, i know it seems like your perfect child has been taken away, but please realise that this baby will still be your baby, will still look like you and your hubby, will still love you and feel your love and will still be your baby in all the ways that matter.

[Deleted User] · December 2014

@Trampslikeus‌ said it beautifully.

As for looking like you they absolutely will. I have a DD who was a surprise diagnosis at birth dispite receiving odds of 1:10000. She looks like my mother. (In my family it skips a generation) She has daddies hair color and my lips and feet. She has the temperament as DH. And most importantly she is so wonderful that I would not trade her for all the tea in China.

There are many great resources on the internet and FB. If you would like some PM me.

rvasq · December 2014

It's looks like you have some great advice and support. Good luck to you, and remember you'll never experience as much love for something as you do for your child, no matter what.

kendallapp · December 2014

Such beautiful and thoughtful advice from other bumpies- I am sending you vibes for peace in this experience. It is totally normal to be disappointed, and of course there is always the fear of the unknown. I am a special educator and have a brother with autism, so have been a part of the special needs "club" for many years and have known and loved many children with Down Syndrome.

To add to the other thoughts on here, first, she will totally look like you guys. Second, just to give you a little look at how awesome these kids are, the waiting list to adopt a baby with DS in the US is over five years long. It will be different than you thought, but you will love her to pieces and get to experience the same joy as other mommies. PLUS you get the amazing experience of loving someone a little different, which I can tell you from experience will make you into the most kind, open minded, patient, and selfless version of yourself. That is a gift that not everyone gets

Best wishes for you, your hubby and LO

pinkcallalily · December 2014

We also received a diagnosis of Down syndrome a few years ago. Until then we were also considered low risk and it was a complete shock. In our case, there were severe heart defects and we were told at our nt scan that she wouldn't survive much longer due to fetal hydrops. We actually knew she wouldn't survive before we knew she had Down syndrome. Unfortunately, we lost her during 2nd tri. Our situation was definitely not the norm, but her heart defects were just too severe for her to make it.

I know it's a hard thing to hear and hopefully you are in the 5%, but definitely know it is not your fault. I understand feeling like you caused it because I still have trouble not blaming myself for our loss. In my head I know I didn't cause it, but I have to remind myself often. I hope everything goes well for you.

beckynsean11 · December 2014

JimBobCooter said:

LolaBailey12 said:

My T&Ps are with you as well. I'm a special education teacher and my life has been brightened by many children with Down's. Last year I read a book called Bloom by Kelle Hampton, it is a memoir about coming to terms with her daughter's Down Syndrome diagnosis after she found out at the birth. I thought maybe it would help you to read it and hear about her journey. Best wishes for your pregnancy and your LO.

Here is the original blog post with Nella's birth story. It is absolutley beautiful and inspiring.

https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

I think that may be the most beautiful thing I've ever read. Thanks for sharing it.

hulagrl461 · December 2014

My thoughts and prayers are with you. It is absolutely normal to feel the way you're feeling. One of my friends (in her late ish 20's) had a son with Down Syndrome in the beginning of the year. He is the cutest thing ever and he does look like his big brother and parents. She is now pregnant with baby boy number 3 who also came back positive for Down Syndrome. I suggest connecting with fellow moms of children with Down Syndrome. And, honestly, the moms I meet wouldn't change a thing.

mamabearMoni · December 2014

Trampslikeus said:
Downs has nothing to do with smoking, and only VERY rarely (less than 5%) has anything to do with genetics (family history has no correlation). While the risk increases with maternal age, it is a complete myth that it happens "less often" with younger parents. There is also very little you'd be able to see on a sonogram at this point to identify Downs, other than possibly having increased NT width and possibly lacking nasal and chin bone structures, but those are not 100%.

It is a completely random chromosomal mutation. You did nothing to cause it, and there's nothing you could have done to prevent it.

I know its extremely difficult to face, and I'm sorry you got this news. Downs is not a death sentence though. This is not the same as losing a baby. I've said this before on here, but doctors, in general, do a very shitty job of educating parents-to-be about Downs. Stay away from Dr. Google - there is a lot of cruel, outdated, and downright WRONG information out there. A whole lot has changed in the last 10/15 years in terms of prognosis, life expectancy, services, vocational/occupational potential, school life, etc. I strongly suggest looking up your local Downs Syndrome Association and getting in touch with them. They have excellent support and resources to help counsel, console, prepare, and support you going forward. The children I treat with Downs are the light, love, and joy of their parents lives JUST like a chromosomally typical child.

You have just become my hero ♡ my older brother had a mental disability (we never got a name for it) and it saddens me to see the stigma that still clouds these kinds of "disabilities."

sne0501 · December 2014

Does anyone know if chance of miscarriage increases? I'm such a paranoid mommy to begin with and now I feel like I need to worry about heart defects and other things mentioned. At every appointment, she's had a strong heartbeat so hopefully that won't take a turn for the worst. I just don't know what I'll do if I lose another baby.

gilder40 · December 2014

I absolutely LOVE all the support and kindness shown here! I am also a special education teacher, have a brother with autism and other developmental disabilities, and have worked extensively with kiddos and young adults with Down's Syndrome. They are some of the most stubborn, yet loving and genuine people I have worked with. Find a local support chapter/group and find information. It will be a much more positive and real place to find information than a "cold" medical website. Arm yourself with knowledge and be ready to have your life forever touched and changed. You and your little one will be in my thoughts and prayers!!

TeacherMama7 · December 2014

Sending prayers your way! We all dream about our future babies, and all the things they will do, how perfect they will be, etc. I can totally understand how this news would be stressful and alarming and would rock your pregnancy world! But just know, the world really has come a long way for those with downs and other disabilities. I have two students who have downs, and they are little raid of sunshine in everyone's lives! Almost always cheerful, smiling, and sweet - and smart too! One of them has done better on my Spanish tests (with no modifications) than other "typically performing" students. Just because your child might have downs, that doesn't mean that they can't be beautiful, perfect and smart in their own way. I am a firm believer in God, and I know that God doesn't make mistakes! Your child is made in His image, and is wonderful. I know that this news is hard to swallow right now, but I am confident that after your sweet and Precious baby is born, you will love her just as much as if she were born without downs!

Sunny B · December 2014

Regarding your concerns about heart defects, many of the students I worked with did not have heart issues. I think it would be very reasonable to ask your OB for additional monitoring based on your odds of having a baby with DS and health concerns that can be related.

ChristineG25 · December 2014

@sne0501‌ what blood test did you have done? If it was the quad screen they should have given you a 1 in something chance of the baby having Down Syndrome?

Trampslikeus · December 2014

Let's not start telling her what her doctor "should" have done without the appropriate information?

After a test like a quad screen comes back with the ratio, those determined to be high risk may opt for further testing that can determine a diagnosis more accurately, and it sounds like that's what OP had.

ChristineG25 · December 2014

@Trampslikeus‌ I was trying to see if she took the quad screen because I just recently had a scary experience with it and usually the odds sound scary but, when explained, they sound a lot better. You say I should wait to get the appropriate information and that's exactly why I was asking questions. I was just trying to help and put her fears at ease until she has more information.

@sne0501 I just recently was told that I had a 1 in 20 chance of having a baby with Down Syndrome and further testing showed that everything is fine. It sounds like you don't have enough info yet to start adjusting to a Down Syndrome diagnosis. The quad screen isn't very accurate.

Trampslikeus · December 2014

If you read her post, her doctor told her the tests confirmed downs with 95% accuracy. That's not a quad screen result. Unless you are her doctor, I wouldn't start telling her that her fears may be unfounded... You don't have enough information to be making statements like you're making here...

ChristineG25 · December 2014

@trampslikeus if YOU would reread her post it says that she is high risk for having a baby with Down Syndrome. The quad screen has a 5% false positive rate but that doesn't mean that the other 95% of women WILL have children with Down Syndrome. I have a feeling the doctor didn't fully explain the results but I'm not sure and that's why I was asking her more questions. There's nothing wrong with having a little hope. The whole point of my post is to get more information from her. By the way, I don't remember asking you any questions or talking to you in the first place. My post was for @sne0501...
Not you. It seems like you have a little too much time on your hands. I was trying to help. You are trying to start an argument.

ChristineG25 · December 2014

And by the way @Trampslikeus‌ I'm not sure it's appropriate to start an argument on a board that someone started while looking for support.

Trampslikeus · December 2014

Thats charming, Christine. I'm sorry you took offense to what I said. I simply pointed out that questioning what her doctor told her without having all the facts is not helpful. The fact that you chose to get defensive and hurl personal insults towards me because of that was your choice and yours alone. Out of respect for OP, I'm not continuing to engage with you, if you have a problem, feel free to send me a PM. Hope you've had a good holiday weekend.

ChristineG25 · December 2014

@trampslikeus you too sweetheart!

sne0501 · December 2014

I honestly have no clue what test they did. All I know is they took blood and said it was for genetic testing. When the doctor called he said I was considered high risk for Down's Syndrome and that it did not mean for sure she had it. So I asked him how often women get this result and all he said was there's a 5% chance it's a false positive...which after further reading, I saw a false positive was when a woman gets that result and her child ends up not having Down's Syndrome. So I took that as a 95% chance that my daughter has it. I'm sure I interpreted it wrong. Nothing was really explained to me. I was just kind of researching on my own. All my doctor told me to do was wait for a specialist to call and make an appointment. I know there's so many things I'm clueless about so hopefully I can see a doctor soon to get all my questions answered. For now, my husband and I are just going with the mindset that she does have it so we can at least be prepared!

But thank you so much for all of your help, information, and support everyone! It really does help me relax and feel better! (:

jmkelly18 · December 2014

As the other mommies of babies with Downs Syndrome have said they love their sweet children! I do too! I can not imagine a life with out my sweet DS! However, I know how you are feeling. When they told us our DS had indicators of Down's syndrome every thought and dream I had for him was shattered. I couldn't believe it, my husband and I were both 22 and no one in our families had Down's syndrome. So I googled...(bad idea) and talked to some other moms (good idea) and tried to prepare as much as I could. Once I saw his sweet face I fell in love! He was so tiny and sweet! Yes it's a lot of work but it comes with even greater reward! Every new accomplishment comes with pride and joy! We love having him and our family wouldn't be the same without him!
We have also met some wonderful people because of his diagnosis. The Down Syndrome Association in your area probably has play groups and people who you can get in touch with who can talk with you. I just took over the play group in my area. If you'd like to PM me feel free!
You are in my thoughts and prayers!

DCCB31408 · December 2014

Hello! I'm pretty new to this so my comment may get a little lengthy. I'm 26 & hubby is 28 and we are expecting our first baby. We had our NT done Nov. 8 and it showed a high measurement of 4.2. After seeing a genetic counselor, I did the Harmony Test which is blood work that tests for T13, T18 & T21; I wanted to stay away from invasive testing for sure. Before getting results from that (it would take 2 wks) I met with my OBGYN who's great, but pretty much told me we were possibly looking at a much worse disorder which would be painful and crippling to my baby. He even went as far as explaining that I was at a high risk of having severe complications and needing to be transferred to a different hospital with different doctors to deliver since I wasn't agreeing to invasive testing which would tell for sure what the baby had. He described pretty traumatic scenarios I could be facing and only having 1 week left of the window you can do the CVS at, I decided to go for it. I'm the biggest chicken and the test wasn't bad, just uncomfortable. Final results are back as of today, and we are having a beautiful baby girl with T21. We couldn't be happier!!!! I know it may sound weird but thinking of all other disorders that she could have had, DS to us is really not bad news- it's actually great news!!!! We are so relieved! Sure, it'll be hard, but parenting has never been known to be easy, and God never gives you more than you can handle so we are excited to face the challenges and learn as much as we can before our baby girl gets here so we can help her as much as possible. Even if you get a positive diagnosis- stay strong, have hope and know you're being blessed by being given the chance to give life to a gorgeous little angel! Best wishes!!! If you need to talk, reach out to me.

maddibayer · December 2014

sne0501 said:
I honestly have no clue what test they did. All I know is they took blood and said it was for genetic testing. When the doctor called he said I was considered high risk for Down's Syndrome and that it did not mean for sure she had it. So I asked him how often women get this result and all he said was there's a 5% chance it's a false positive...which after further reading, I saw a false positive was when a woman gets that result and her child ends up not having Down's Syndrome. So I took that as a 95% chance that my daughter has it. I'm sure I interpreted it wrong. Nothing was really explained to me. I was just kind of researching on my own. All my doctor told me to do was wait for a specialist to call and make an appointment. I know there's so many things I'm clueless about so hopefully I can see a doctor soon to get all my questions answered. For now, my husband and I are just going with the mindset that she does have it so we can at least be prepared!

But thank you so much for all of your help, information, and support everyone! It really does help me relax and feel better! (:

That is the best thing you can do! I have always had the expect the worst mentality because if the worst comes your not so unprepared. But if the best happens it's that much better! My daughter was born with a multitude of medical issues and now requires a trach and ventilator. I am expecting the worst with this child and have already had some unusual results. We find out amnio results next week and hopefully my fears are unfounded but I am fully expecting and ready for bad news. I will keep you in my T & P's! Hopefully you get some more info from your doc soon and can have peace of mind! Good luck!!!!

dancegurl1118 · December 2014

DCCB31408 said:
Hello! I'm pretty new to this so my comment may get a little lengthy. I'm 26 & hubby is 28 and we are expecting our first baby. We had our NT done Nov. 8 and it showed a high measurement of 4.2. After seeing a genetic counselor, I did the Harmony Test which is blood work that tests for T13, T18 & T21; I wanted to stay away from invasive testing for sure. Before getting results from that (it would take 2 wks) I met with my OBGYN who's great, but pretty much told me we were possibly looking at a much worse disorder which would be painful and crippling to my baby. He even went as far as explaining that I was at a high risk of having severe complications and needing to be transferred to a different hospital with different doctors to deliver since I wasn't agreeing to invasive testing which would tell for sure what the baby had. He described pretty traumatic scenarios I could be facing and only having 1 week left of the window you can do the CVS at, I decided to go for it. I'm the biggest chicken and the test wasn't bad, just uncomfortable. Final results are back as of today, and we are having a beautiful baby girl with T21. We couldn't be happier!!!! I know it may sound weird but thinking of all other disorders that she could have had, DS to us is really not bad news- it's actually great news!!!! We are so relieved! Sure, it'll be hard, but parenting has never been known to be easy, and God never gives you more than you can handle so we are excited to face the challenges and learn as much as we can before our baby girl gets here so we can help her as much as possible. Even if you get a positive diagnosis- stay strong, have hope and know you're being blessed by being given the chance to give life to a gorgeous little angel! Best wishes!!! If you need to talk, reach out to me.

This is a beautiful, optimistic outlook. Your little girl is so blessed to have you!!

mamahawk12 · December 2014

Your sweet baby will absolutely still look like you! Just maybe not in the way you expect. My youngest was born with a facial birth defect and I was devastated that he wouldn't look like us, or like his brother. Well fast forward two years and he is a spitting image of his big brother, just in his own unique way (which I love.)

Your most recent post makes me believe there is more hope than you originally thought, which is great! I, like you, would prefer to go in prepared for the wost and not the other way around. Please keep us posted when you have more info!

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