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Success after IF
We have results... DD has trisomy 21 (long)
So, we got our results on Wednesday night (shockingly a week earlier than we thought) and DD has Mosaic Down Syndrome... We are devastated, but not completely surprised. We are also very thankful that it is Mosaic DS, it gives us a little more hope that she will have more of a minor case of DS. Those few hours on Wed night before we could put DS1 to sleep were pure torture. It was so difficult keeping it together for him, it was so difficult not to fall onto the floor crying. DS1 knew something was wrong though...
Just a FYI: Mosaic DS is when not 100% of the cells are effected. Some of her cells have the typical 46 chromosomes and some of them have the 47 chromosomes. Because she has some typical cells, it increases the odds that she will have more minor complications from DS.
We met with a geneticist yesterday and she did an exam of DD and was pleased with how well she is doing. She doesn't have many of the 'classic' DS characteristics and has pretty good muscle tone so we are happy about that. Right now muscle tone is extremely important because it is how she will reach her milestones. We won't really know more about how she is effected until she can verbalize and we can do IQ tests, etc.
Anyways, we are now starting down the path of meeting with a cardiologist to check for heart defects, but we have no reason to believe that she has one at this point. We are also starting the process for early intervention. I am not sure what else to do right now. I think I need to call Kennedy Kreiger, but I don't really know. What do they do? What do I say? I am just so scared.
I am pretty much devastated right now, and so scared for what this means for DD's future and for our family. DD is a twin and I worry about that too. How will this impact her brothers? How will it impact all of us? I am just so worried for her? I want her to be able to go to school, to get a job, to live independently and I hate not knowing if those are even realistic hopes for her. I just want her to be happy... I want all of us to be happy... I don't even know what to do now. What do I do?
Oh, they also had no reason for the essentially neg prenatal screening results. She was found to have a 1 in 2800 chance of having Trisomy 21. WTF!?!?? How can she be that 1? I can't believe it. I want/need more of a reason for this. I wonder if her having Mosaic has anything to do with it.
Nothing to see here....
This discussion has been closed.
Re: We have results... DD has trisomy 21 (long)
I can't even IMAGINE, honey. I am pretty much at a loss for what to say - most moms get a chance to prepare themselves for this, or at least they know from birth. To learn about this now is just so unusual, so stunning - I can only surmise how confused and dismayed you are.
As everyone else has said, your DD is still your DD, and she's still your DS#2's wombmate, counterpart, best friend and other heart. Don't worry about your sons for a moment - their lives will undoubtedly be richer for her being them, and while your DD will need some extra care, your DSs will be there help provide it.
As for screening - because so much of the risk is assessed on physical characteristics, I would bet that it's because she is mosaic that it was missed. My own personal opinion (for us) is that this is why CVS is great - it is definitive - but it's invasive and comes with risk. If you need to know more about it, press the genetic counselor to explain it all with the detail you need. It doesn't change your reality but if you need to understand how you only came to learn of your DD's diagnosis now, then you have every right to have that information.
HUGE hugs - I know what it's like to have the rest of your life changed in an instant, but I can only imagine what that feels like when it's because your child has a medican condition. All I can say is that you are up to this; your family is up to this; and you'll be the best mom to the best daughter in the world.
(one last thing - not sure if you have checked out the babycenter boards, but there is a board for parents of kids with DS that is really well populated. Definitely check it out, I'm sure they can answer a TON of questions. Also, sending you a PM.)
I am a runner, knitter, scientist, DE-IVF veteran, and stage III colon cancer survivor.
Many thoughts & prayers coming your way. I know it must be a lot to deal with right now.
I don't have all the answers but i just wanted to let you know that my older brother has DS & he. is. awesome.
he graduated highschool, has a job, lives in assisted living & competes in the Special Olympics every year.
he is happy, healthy, adjusted & well rounded. he's 31 this year & didn't have nearly as much early intervantion as is available these days. my mother is a SPED teacher so that helped- and sometimes handling him could be taxing- but we stuck with it as a family.
i'm glad you were able to get an answer & i hope you have tons of resources at your disposal!
look at the birds | bless this food
I asked about this too... She said that most children with MDS aren't found at birth, but sometime afterwards. I feel like this is a little BS, though. She had visible markers at birth that should have brought on suspiscion. The doctors and nurses should have seen them. The geneticist when through her birth notes and NOTHING was noted. I know that I had suspicion, but no one said anything to me so I thought it was okay...
I hate myself for not saying anything sooner. I am her mom, I am supposed to fight for her and I let her down. I think part of me was afraid that we would get this diagnosis and I wasn't ready (not that anyone could be) and part of me thought maybe I was just worrying about nothing.
Thank you.
First off I am so very sorry you are going through this. Honestly, though, I am not worried about your DD, and I am not worried about your DS's. The only person I am concerned about is you! Look at what an amazing mother you are that you pushed and pushed for this and got this diagnosis. You ARE her mom AND you did it, you got a VERY early diagnosis and only because of you fighting for her. I read this statement and my heart just breaks for you because you are not seeing all you have done:
How did you let her down?! It is appalling to me that no one else was able to catch this but in 4 months you were able to go through all this. In a way you broke the odds and fought so hard against those that said nothing and who created this false image for you that you had to be strong enough to break through. That is miraculous in itself and shows what a good mother you are.
In regards to Kennedy Kreiger, yes, you call them. And you know what you do, you don't say anything, you break down like many moms that have come before you and I have complete faith that they take you by the hand and guide you. In addition you will also get the support YOU need by being able to talk with other parents in your shoes.
There are many positives that you are noticing already, the severity and her current progress/state. Another positive, which it seems you might be looking at as a negative, is that she has a twin and an older sibling. These will only encourage her to progress and do well. Additionally they will be support her her and for you over time. Do not underestimate that. Children who have siblings with challenges become more compassionate better people because of it.
Hang in there and know deep down that you are an amazing wonderful mom and person. Many mothers would have never said anything and even denied this for years. Instead you fought and you are now at a path that will lead to her success. Try to take this day by day and not figure out 10 years from now. We all don't know that. With any hope you can adjust and try to change your 'planning' for short term.
(((HUGS)))
I've been thinking about you and checking the board for your update every day. I can't even imagine how you must feel right now. This breaks my heart for you but I also want to re-assure you that your sweet baby girl is the still the same sweet baby you took home from the hospital. She may have some challenges ahead, yes, but that doesn't mean that she can't grow up to live a semi-normal adult life. You sound like you are really on top of it getting her all the help she needs and she will thrive and grow in your sweet care.
Thinking and praying for you and your family often. Hang in there sweet lady!
"I have four children. Two are adopted. I forget which two. -Bob Constantine
"All for Love,' a Saviour prayed 'Abba Father have Your way. Though they know not what they do...Let the Cross draw men to You...."
I'm so sorry. I can't imagine what you are feeling right now.
I hope her case is mild and that you can get some peace with this diagnosis.
I'm so sorry that you didn't get the results you were hoping for.
((((Hugs))))
ABC- I am so sorry to hear that you got this news. I know that you are going through a wide range of emotions. I can't imagine everything you are feeling but I'm sure everything is normal and expected. She is beautiful and you are a great mom. She is soooo lucky to have you and her brothers in her life. She will have a wonderful blessed life because of you and everything you are going to do for her.
My gf asked me yesterday if you had any answers yet. She is still more than willing to talk with you about DS. HUGS!!!!!!
Married 8.13.2005, M/C 12/8/06- 5 weeks, M/C 2/27/07- 7 weeks, M/C w/ D&C 8/10/09-6.5 weeks *Charles Lawrence born 5/2/08 @ 3:14am, 7lb 8oz, 20.5 inches. Clomid, Crinone and baby aspirin. *Alexandra Claire born 9/14/10 @ 9:52am 6lb 14oz, 20.5 inches. Femara, Crinone and baby aspirin.
I'm sure others have said more profound things than "I'm sorry" but I am. And my thoughts are with your whole family as you go thru this challenging time.
I'm not going to let you beat yourself up over this, though. I'm sure it's all part of the process, but you are a GOOD MOM, and have done nothing "wrong."
I'm glad you have answers...I know it is a LOT to take it but you did not fail her. You fought for her and will continue to fight for her.
I babysat for my neighbor growing up who had D.S. She's now a high school grad who works part time and lives on her own with some roommates. She has challenges but that doesn't mean she couldn't have a fulfilling life....just has to approach things differently.
I cannot imagine what you are going through right now. I have some experience with DS - my uncle who was 7 years older than my dad had it and lived with us from when I was 2 until I was 9 years old. He was like a brother to me and was an amazing man. Honestly, I think growing up with him was so important to who I am today and to a lot of my friends growing up also - he taught us compassion and understanding and patience and a million other things that I could go on and on about.
And this is someone who was born in 1945. He was amazing.
He ultimately moved into an assisted living center where he had a job and friends and absolutely loved it. He lived to be almost 60 years old (dying a few weeks before his 60th bday) - which is amazing for someone born in the 40s. He, in fact, lived longer than my father who had no issues but took crap care of himself.
That all is to say, I am not worried about your sons. I really think they will do fantastic with this challenge. And I am not really worried about your daughter either.
I'll echo what others have said and say the only person I'm worried about, and only for right now is you. I KNOW you will do great with this and will be an amazing advocate for your daughter. But, I hate that you feel like you let her down. I was in tears when I saw you write that. Let me say what others above have said also - YOU DID NOT LET HER DOWN. You did not let her down. You did not let her down. You are an amazing mother and you and your family will do great at this. I promise.
My husband works for a large national non-profit that helps children and adults with disabilities (including DS) throughout the country. Please do not hesitate to contact me if I can ask him to look into resources in your area.
(((hugs)))
I've been thinking of you...I'm so sorry. I KNOW you are an awesome mom, and you will all get through everything that comes your way as a family. She will be SO lucky to have 2 brothers to help take care of her, and they will gain so much love and learn so much about goodness through their dear sister..
love to you
Joey, Ronnie, and Audrey,
my awesome IUI 30 week twins, and my surprise miracle
LOVE my SAIF ladies
You did the best that you could do with the information you had. I'm shocked that no one but you noticed or noted physical characteristics at birth. And that you had to push so hard means some one along the way wasn't paying attention or was dismissive. I'm sorry.
My niece was born with some physical characteristics and the OB freaked my bro and SIL out about it but her tests came back negative.
As for prenatal testing, everything I read said it was less accurate for a twin pregnancy. Where did they get the 1 in 2800 number to give you?
I'm sorry you are dealing with this! I think it's great that it's mosaic and from our discussions with our genetic counselor my understanding is that she has a good chance of having mild symptoms. It really sucks that she has to be the 1 in 2800 and there is nothing I can say to make that hurt less. I'm still struggling with why our baby was that 1 as well.
I'm guessing no physical markers were caught before she was born because they are so mild. Even at 13 weeks pregnant they saw a couple of very noticable physcial markers with our daughter and they could tell then she had severe heart defects very early. The cardiologist couldn't have done a more thorough heart check until at least 18 weeks and we didn't make it that far. I think that they didn't notice any heart problems during your ultrasounds is probably a very good sign.
As many others have said, my husband and I each have relatives with Down Syndrome and they are both doing very well. One is only around 12 years old, but goes to a regular school and is very healthy. The other is an adult, has a job, and lives in an apartment that is part of a group facility. He does everything on his own, but has the additional help nearby if necessary.
As I've seen with my relatives, having a sibling with special needs only seems to enrich the unaffected child's life. I truly believe your daughter will be just fine. Things may not be the same for her as they are for your sons, but she will still have an amazing life.
IVF #1 - BFP (6dt)
Unassisted Pregnancy #2 - lost at 15w6d due to T21, severe heart defects, and fetal hydrops
"When it comes to sleeping, whatever your baby does is normal. If one thing has damaged parents enjoyment of their babies, it's rigid expectations about how and when the baby should sleep." ~ James McKenna, Ph.D., Mother Baby Behavioral Sleep Center, University of Notre Dame
Unexplained Infertility
After two Clomid cycles, three injectable IUI cycles, two IVFs, two miscarriages, and one lap surgery, IVF #2 has brought us our little boy!
TTC #2
After months of being postponed or cancelled, FET #1.3 (Natural FET) brought us twin girls!
Because we're fancy like that.
After 21 cycles, and severe MFI, we finally did it with IVF #1 w/ICSI! Nico arrived 12/3/08!!!
TTC for #2: IVF w/ICSI #2-4/17/10-BFN; IVF w/ICSI #3; 7/4/10-BFP!!! Beta #1- 96; Beta #2-528; Beta #3- 7371; 6w,5d-blited ovum=D&C
IUI #2 1/10/11-BFN; IUI #3 2/18/11-BFN
IVF #4 w/ICSI & PICSI ER 5/13/11, ET 5/1/118-BFP!! Natalee arrived on 1/23/12!!!!
Pregnancy Blog: Miracles Can Happen
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This. EXACTLY. Hugs and prayers!
PLEASE JOIN US ON THE SPECIAL NEEDS BOARD! My son has a 555kb duplication of the 16p11.2 chromosome. It WILL BE OK! Down Syndrome is a Syndrome for a reason. There are a wide variety of abilities and levels of kids. I tutor 2 kids with Down Syndrome. One of the kids is able to function with help in a typical classroom and at 13 is about a 4th-5th grade level academically so he's 3 years behind. The girl I have been tutoring for a year is academically lower but has more physical issues.
I have seen people with Down Syndrome be able to go to college and hold productive jobs. If you want you can talk to me. We've been a year and a half post our diagnosis and although I still have days where I look at Chris and cry wondering "why him" I have more days now going "there is a reason it is him". I happen to be a loud mouth and don't take no for an answer. I also have a degree in special education.
I'm so so sorry.
I agree with mommyof4boys -- there are a ton of people with DS who are very independent and productive, very intelligent, and VERY happy. There is a huge range of characteristics and abilities, and it totally sounds like your sweetheart is on the mild end of that already. I used to teach exceptional children, and *anyone* with DS was in a higher class than mine, and it sounds like your DD is on the higher end of that. And that's without early intervention -- you're already well on your way!
Your hesitation early on makes so much sense, really. Please don't beat yourself up. You're advocating for her, and you have from the beginning. And she's still tiny -- there's still a lifetime of learning and enjoyment ahead of her!
You're an amazing Mommy and her brothers will be amazing brothers to her. Indeed I think they'll learn more about life from her than they would were it not for this.
Thinking of you, and cheering you on too.
Our Thanksgiving Day baby 11/22/07
Pregnant with #2 with LPD, uterine polyp/hysteroscopy, DOR (AMH = 0.17), 2 c/ps
Our early Christmas present 12/9/10
First of all, huge hugs to you. This must be so tough. I think you should definitely call Kennedy and get as much help as you can to work through this new reality.
You sound like an amazing Mom.
I quickly googled and it looks like there is such a huge range of what to expect from this situation (I had never heard of mosaic Trisomy 21)...DH has a cousin with typical Trisomy 21. I hope you can find out the extent of her situation so you can get a better idea.
I think it's great that you advocated for your daughter. Hang in there.
(((BIG HUGS))) I know this is not how you expected your life and your daughters life to be but, you will find your new normal and get settled into your "new" life. Make sure to give yourself time to mourn the life you imagined. I completely understand how you feel with your fears about the future, I have the same fears. It is scary and sad and it is something I still struggle with. I can say my fears about the future have lessened since I've had time for Isabel's dx to sink in and I have started handling the things in her life (mostly therapies) that need to be handled now.
You did NOT, NOT, NOT let your beautiful daughter down! Get that though out of your head, you have so many other things to think about. Is it gone?!?! Good!
As far as your sons go, I think they are going to grow up to be such loving, caring, compassionate and protective men. I think it is so wonderful that you have two boys who will look out for their sister as the grow and become adults.
You are already doing a fabulous job and I know you will do everything you can to advocate for your daughter. She was lucky to be given such a great mom. Your daughter is still your sweet, perfect girl and that's what counts.
My DD does not have ds but we do now live a life of complete uncertainty with a special needs daughter. If you ever need to vent, cry, just be pissed or whatever I'm always hear to *listen*.