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I found out back in August that my fiance and I were expecting our first child. I'm 22, he's 26. These past few months have been the most exciting months of my life. I have been so happy. Just thinking about this little one inside me fills my heart with joy.
Last week, I went in for my 2nd trimester appointment with my OB. I was 19wks 3days when they told me I was having a sweet little girl. I think, at that moment, that's when the 'glow' that everyone keeps talking about became apparent. I was literally gleaming from ear to ear. I would have been happy with a boy or a girl, but I was so happy to finally KNOW (I've been wanting to buy baby stuff since I found out we were expecting). After the ultrasound, we went in to meet with our OB. She told us that the baby had a Single Umbilical Artery (SUA). She then stated that most commonly, if there are issues, they are with the kidneys (extra one, missing one, etc) but that they checked them closely on the US and that they looked 'good'. She said that she did see a bright spot on the heart and because of that, they wanted me to see a high risk OB. I went home immediately and researched what she had told me. I did find that SUA is pretty common for 'rare' things - if you're going to have an issue, commonly it's SUA. Then I moved on to the bright spots on my sweet baby's heart. This sounded normal, too and they find that it usually resolves within a few weeks and well before the baby is born. I found comfort in knowing that these are two issues that are both somewhat common but coupled together could mean more. Bright spots on the heart are soft markers for down syndrome (from what I read). So, need-less-to-say, naturally, I was worried to see the high risk OB but found comfort in my research and I looked forward to getting some peace of mind from a better OS machine.
Note: I did have a Quad screen. Based on my age (22) most women have a 1 in 1103 chance of having a child with DS. Based on my body and the levels in my blood, I have a 1 in 1506 chance. So that's great news - the chance went down for me from the age average based on my levels.
Today I saw the high risk OB. The baby has several other "soft markers" for DS. 1. SUA, 2. Hydronephrosis, 3. ICEF, 4. Hyperechoic Bowel, 5. Tricuspid Regurgitation. They said that all of these things by themselves wouldn't raise too much alarm but finding them all, at the same time, really concerned them. They said that the Hyperechoic Bowel could mean a prenatal infection or something not working properly and 'moving' and stated that an amnio would really help them to diagnos this but would also give me answers on if the baby does have DS or not. My baby girl is not missing a nasal bone and does not have excessive fluid behind the neck (all visual indicators that doctors look for on US early on to determine at risk for DS or not). From 9am this morning until 2:00pm we waited to see a geneticist. I cried in fear for my child every second of that wait. All things going through my mind. How? Why? What will her life be like? What will my life be like? Why can't my child be normal? No parent wants to hear that there is an issue or a problem with their child. I just want my princess to be perfect. Regardless of if she has DS or not, we will still love her just as much. It literally just breaks my heart. My fiance has been so supportive but I can't help but to feel so alone.
They also told my I'm at risk for pre eclampsia and I have "Incomplete previa". We decided to go with the amnio. Otherwise, I was going to be wondering for the next 1/2 of my pregnancy. I would rather know. What scared me even more was the chance that I could loose the baby because of this test. What if it comes back normal and I loose her because I was being selfish by wanting to know for 99% certainty? I'm just so scared. It's been several hours since the procedure and besides some occasional cramping, I feel fine.
I'm scared to get excited, to look at my ultrasound pictures, to look at her beautiful face on those photos because I'll fall in love even more with a baby that I might loose for one reason or another. Several of the 'issues' that they found could lead to preterm delivery or still birth. I don't know what to say. It's just so much. I just want her to be a healthy little baby in my arms on May 4th, 2013. I have no family history of any issues with anything and neither does my fiance. I tested negative for CS.
I'm trying so hard to be strong but I'm running on empty and really just need some good news. I've been trying to stay positive and not worry because I know the stress is the worst thing for this precious baby. I just don't know what to do and I feel so helpless. All test and screens came back negative. What are the odds that all of the issues are separately unrelated coincidences and that my innocent baby will arrive OK? What are the odds that this amnio will come back clear for DS? I just want answers. I need help.
Oh my goodness - my heart hurts for you right now. What an overwhelming, difficult spot to be in. I hope the amnio will provide some answers that are positive and reassuring. I can't really say what the odds are for the results...every pregnancy and circumstance is so different. All I know is that, as a NICU nurse, medical technology has reached incredible levels. You never know what can be done to help things along if a problem does arise. On the other hand, I will be praying that all these things are just coincidence and that your little girl is just fine. I don't know how exactly to help you stay strong except to tell you that you have a place here to vent and share your feelings. Just know that I am praying for you. Make sure to let us know how it all goes so we can support you. Hugs.
I agree with Julie, I can not even imagine what you must be feeling and going through right now. You're right no one wants to hear that there might be developmental issues with their child and worse yet have to put that child at risk to try and keep it healthy. First i want you to know that all of the parents here genuinely care about each other and give the best support i have ever seen outside of families. We all lend an ear so to speak when you need to vent and do our best to give comfort when we can. I would also like to send a prayer that your little girl does not have any developmental issues... That being said I used to work for a company called res care (It's assisted living for people who have developmental issues, schizophrenia, turrets, DS, Autism, mental retardation... The list goes on). I have worked with many different people that have issues and i must say that down syndrome kids are by far the sweetest. I LOVE them. They are full of love, compassion, they are funny, full of life, and just all around wonderful people. So while i pray that your child is normal, if she does turn out to have DS know that there are many parents and care givers out there who know what you are going through. Also take comfort in knowing that since you have had the amnio you will be able to better prepare yourself on how to care for your child and give her the best possible start and life. you are going to be a great mother.
We have had several scares with our children through the years, and the best advice I have ever received was from a friend of mine. She said..."you are her mother...you will do what it takes--and you are strong enough". I realized right then and there that no matter what the test showed--it didn't change the fact that I was her mother and that I would be there fighting for her and getting her all the help she needed. I was strong enough to fight with her and you are too. No matter what happens, know that. You will find the help and strength you both need to give her a wonderful future. I hope this empowers you as it did me and I hope you get the news you are hoping for. If you don't, I want you to believe in yourself and in your ability to be your daughter's best advocate.
As mothers, we are all given tasks which seem impossible....some of us at birth, others when are children are small, and still others once they hit high school or beyond. It never stops--but we are all stronger than we think and we all fight for our children--no matter how small or big they may be. I will pray for you and your family...please let us know how the test turns out.
Thank you all for your kind words. It's been a very scary 24 hours. And my fiance and I do both agree that we will love her unconditionally (we already do!) regardless of how the test turns out. I've been trying to focus on the good news and that is that her humerus bone, femur and brain all look great and normal size. She does have a nasal bone. Her movement is exceptional. I have felt her all day today so I'm pretty sure we're in the clear from the amnio. So I've bene trying to stay positive and not jump to the worst even though DS is definitely not the worse case scenario. I feel like the markers could be side effects from the SUA and that they will resolve themselves. I will definitely keep everyone posted once we hear the results.
It sounds like you have really made peace with the potential outcomes of your testing and the results. In reading your post I instantly thought back to one of my favorite quotes by Eleanor Roosevelt-
― Eleanor Roosevelt, You Learn by Living: Eleven Keys for a More Fulfilling Life
Please feel free to come here and post for support, encouragement or just to reach out. Always happy to offer support and long distance hugs. :)
We got our initial results back. The baby does not have T21. They said that there is a 5% chance that this may change within the next week as the final results come in but that they are very positive and confident in this initial result. I will update you again once the array comes back.
I just hope that everything else is okay and that these are just coincidences that will resolve themselves (with the exception of SUA because that's definitely not going away).
I will say this: Over the past few days, I have been researching like a madman and can say that I have a new found respect and understanding of those living with a disability or the parent of someone with a disability. I still don't like the word disability because I personally do not see DS as a disability just an obstacle. I was (and still am incase other atypical results come back) prepared to enter into this new unexpected challenge. After reading up on DS, I felt confident that everything would be OK even though it may not be what I initially expected. I'm thankful that it is not the case but I no longer felt 'sorry' for my potential diagnosis. After I got over the initial shock that she could be anything but typical, I grew to respect, appreciate and love those with disabilities and those raising children who were not 'typical'. I may still find out news that I may not have originally wanted to hear but if I do, I know that she will be in good loving hands and I would not want it any other way. She is my everything and has changed my life already. I'm a better person because of this 'scare'; because of her.
Thank you all very very much for your support. I really don't think I would have come to terms if it wasn't for the massive amount of support on this board and several others. Thank you!
Correction... you already are a wonderful mother.
Love the initial results! Hoping they stay that way. You are wise beyond your years and have a wonderful perspective on life. Kudos to you for committing to loving your little one no matter what comes your way and knowing that you really will be okay. Every single person on this earth has challenges - some are more obvious than others - but we all struggle with various things. Continuing to pray for you guys - hugs.
So happy for you and your family! What a wonderful Christmas present! I will continue to pray that the rest of the results are just a good and that your pregnancy progresses without a hitch from here on out!
Thank you all for your support! We finally got the final results in yesterday. I called the doctor's office and they said that they actually came in on Wednesday but because of their office hours for the holiday, they just hadn't been able to call us yet. They said the panel, array and final all came back clear. So, as far as we can tell, there are no chromosomal abnormalities and she is definitely a girl! :)
The genetic counselor said that they are still considering me high risk due to the SUA, Echogenic intracardiac focus, Echogenic bowel and dilated left kidney that they saw on our 20 week ultrasound. We have another appointment on Tuesday and hopefully we'll see some improvements on the above concerns (SUA is not going away but they said that the others usually resolve themselves). They were just primarily concerned because none of the 'markers' by themselves are very concerning and most will resolve themselves by the 3rd trimester, it's just rare to see so many at once. We're just hoping for the best and to make it to at least 34 weeks.
Thank you again for all of your support and kind words! I really appreciate it! :)
So glad to hear this! I will still keep you and your little girl in my prayers. I hope the rest of your pregnancy is "uneventful'!!! :)
Wonderful! This is such good news! Praying that you are able to have some peace of mind and enjoy the rest of your pregnancy. Hopefully you continue to get good news as time goes on. :-) Congrats on your girl!
i just wanted to tell you reading your story gave me hope in this very difficult time.
i am 30 years old expecting my first baby girl. I went to get an ultrasound yesterday and they found a single vessel cord, also some liquid in one of the kidneys and a "borderline normal" amount of liquid in the brain. Besides that the heart was normal, her nose was normal and her arms and legs measured normal.
Still they suggested i get tested for DS. I did it right away but now i find myself having to wait for at least a week, not knowing what to do or think, or even breathe.
I truly hope my story turns out to have a happy ending like yours.
I am sorry that you are going through such a stressful ordeal during your pregnancy. I will be praying for your and your family and hoping that you get good news this week. If we can be of any help or support from afar, please let us know. We are here for you.
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