“My pregnancy was definitely a roller coaster of emotions where I questioned my resolve, my decisions and my sanity every time I got a new test result. But right from the beginning, all the way through till now, I had reasons why I didn’t want to test for Down Syndrome. This post is not about what I think everyone should do, it’s about what I did and how it helped me get through the turmoil of prenatal diagnosis. Even though there were ups and downs during those 9 months, by the time Wade was born, I was ready and happy and waiting there with open arms to meet him whether he had DS or not and if any of my thought processes help other women in similar circumstances then its achieved its purpose.”

Below is our list of blogs from other moms who received a prenatal diagnosis and then blogged about the experience during their pregnancy. Those stories are so real and meaningful to expectant parents who can then go on to read the outcome for families. Please add to our list in the comments.

Jenny’s story:

Our story began the day of our fourth child’s 20 week anatomy scan. We had declined all early testing each pregnancy, but because of previous preterm labor issues, we had regular ultrasounds to see our little bug. This had been the easiest pregnancy of all the kids, and being seasoned parents, I didn’t reschedule our ultrasound when we discovered my husband had a conflict that day. I was anxious to find out whether we would be evening up the gender war or adding an even greater advantage to the boys’ side. I planned to go buy a gender specific outfit and surprise dad afterwards. I dropped all the kids off and happily arrived to my appointment.

I’ve had lots of ultrasounds throughout my pregnancy lifetime, but it is still incredible to me to see a life we had created growing and moving inside my body. Hearing the heartbeat is one of the sweetest sounds in the universe. My ultrasound tech was wonderful and explained all the bits and pieces, although not a lot of explanation was needed in the gender area. After having two boys, it was confirmed quickly that my daughter would have 3 brothers! After some shifting around (more than usual) the tech said she got what she needed and sent me to wait for the rest of my appointment with my doctor.

I had already begun to feel a little uneasy; something just seemed off. When the doctor walked in, I knew something was up.  He did his regular checks and then asked me to join him on the chair to review the ultrasound. My stomach dropped.

Within the next minutes, I heard that my baby did not have a nasal bone and that he recommended that I see a perinatalogist for a level 2 ultrasound. This was a marker for Down syndrome. Everything else looked fine (heart, GI, etc.) as those could also be indicators.

Next, I drove to my husband’s office to tell him the news. Oddly, as I cried during the 30 minute drive, I was most worried about the stigma around Down syndrome. How would he be treated? Would he ever fit in? What would others say and do?

My unsuspecting husband joined me in the car; I couldn’t bring myself to walk in. I told him another son was on he way and then I dropped the bomb. He comforted me and reminded me that our baby would be our baby no matter what. If I wanted more information, schedule an appointment. He was a rock of strength and his faith, unfaltering.

Feeling more at ease, I went shopping for baby boy clothes. Retail therapy was in order.

I scheduled the appointment and it would be 2 weeks later. What?!? Those were a long 2 weeks. During that time I googled as much as possible about Ds and found the good, the bad and the ugly. I reached a point where I could no longer see information. This is also the time
I began lurking on the Ds and Ds pregnancy boards on Babycenter.  It was really helpful to see photos and hear stories and questions from other moms.  Finding that site allowed me to calm down and carry on during the dreaded wait time.

Before the appointment with the perinatologist, I believe I already knew what our future held. I had already decided that I would not have any invasive testing. So, when 2 other soft markers were noted, I jumped at the chance to take the new Verifi™ blood test which would give us an answer with 99% accuracy in 8 days.  8 days.

I tried to keep extra busy during that wait and tried to stay off Google. But, by the time the genetic counselor called with results, I was convinced that we already knew our little one would be extra special. The results confirmed my instincts on a Wednesday afternoon. I cried as a I called  my husband to tell him that our newest son had three copies of the 21st chromosome, but this time it was driven by relief and content, not fear or anxiety.

That night, I spent more time with the BabyCenter groups and Downsyndromepregnancy.org. These truly became lifelines to me throughout my pregnancy. I felt like I no longer fit in with my birth board. We chose to not tell people other than family and close friends until our little one arrived, so that also limited my support. I had sound research and real-life experience at my fingertips, and it was incredibly comforting during this challenging time. The BabyCenter board was also the starting point for the Facebook group of moms I have grown to love and admire. Over 100 moms new to the journey of DS living life together online; it is a beautiful thing!  Without the BabyCenter Down syndrome boards, I cannot imagine how I would have come through all of this.

Owen Henry Jacob was born at 38 weeks, 5 days. We induced because the doctors believed the fluid around his heart was increasing. We welcomed our precious son on December 28, 2012. He was 7 pounds, 7 ounces and 19 ¼ inches long. And he was (is) perfect.

He was a strong nurser right away and was cleared by the NICU staff and doctors. Hours after he was born, he was moved to the NICU due to pulmonary hypertension. He started on oxygen and was doing great after a saline/blood exchange. That night he was cleared by the pediatric cardiologist (no fluid at all!). He ate very well, and after experimenting with oxygen levels, it was decided that we could bring him home with oxygen on day 6.

Today, Owen is 4 months old! Time really does fly. He is almost 16 pounds and has started rolling from back to front. His smiles and giggles are tough to capture, but they light up the room. We have had 2 ABR tests for his hearing, and Owen will be getting temporary hearing aids this month. Once his ear canals are large enough, tubes will be placed and we believe that will solve his hearing issues too.

His older siblings are in love and so are we. We are so blessed with our family of 6. I am still basking in the newborn glow (or maybe that’s sleep deprivation?!) and find solace with my other moms who have kids rockin’ the extra chromosome. The BabyCenter website and downsyndromepregnancy.org filled a huge void in my life during the very difficult time from diagnosis to birth. I am forever indebted to the women who began it all and continue to support so many moms (families) each day.

Read more from Jenny at her Blessings Beyond the Ordinary blog. Thanks Jenny!

We hope these stories will uplift and inspire you and let you know that you are not alone.

Jackie’s Story:

At 18 weeks pregnant, my husband, Greg, and I were so excited to head  to University of Michigan Hospital for our ultrasound and find out if we were having a boy or a girl!

We found out after a long ultrasound that we were expecting a sweet baby girl. What we didn’t expect to find out was that we had a high probability of having a baby with Down syndrome. We met with a genetic counselor and ended up having an amnio the very same day to confirm the diagnosis. We saw enough markers on the ultrasound to expect the positive amnio result we received 48 hours later.
I did a lot of online research and was eventually directed to the Down Syndrome Pregnancy board from BabyCenter.com. What a lifesaver for me! I had finally found a group of women who actually understood (and didn’t judge!) all of the feelings I had going through my mind.

Through that board I found tons of pregnancy resources, Down syndrome resources, and support from a lot of amazing women. It’s so nice to have a great group of supportive people to walk this journey with. I went from feeling totally alone in my pregnancy (even with a very supportive husband by my side) to feeling encouraged, supported and uplifted.

Today our beautiful daughter is 15 months old with the sunniest, sassiest, and sweetest disposition, and she totally rocks her extra chromosome. I shudder to imagine how my mental state would’ve fared without the resources from BabyCenter and DownSyndromePregnancy.org. Luckily, now we are able to see how we needed Lauren to complete our family … however she happened to arrive in our lives and however many chromosomes she arrived with.

We are blessed!

Sincerely,

Jackie

We’d love to hear more stories from other moms, so please share in the comments or send your story/photos to stephanie.meredith@uky.edu.

Last month, one mom’s story inspired us to launch a special Mother’s Day campaign. She described feeling “desperate and isolated” after learning that her baby boy would have Down syndrome, and Down Syndrome Pregnancy was the lifeline that gave her hope during that time. She told us that she wished every genetic counselor could have a copy of our book to share with other pregnant moms expecting a baby with Down syndrome.

This Mother’s Day, we’re determined to make her wish come true.

During the month of May, all donations to Down Syndrome Pregnancy will go toward providing copies of Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome to prenatal genetic counselors.

Reaching $10,000 by the end of the month will cover all prenatal genetic counselors nationwide. The incredible news is one generous donor has already kicked off the campaign with a $5000 contribution; we are already halfway to our goal!

Please make a donation now to help us raise the additional $5,000 to make sure all expectant moms have the resources they need.

Learn more about our Mother’s Day Campaign: Give a Lifeline.

This month we’ll also be featuring the stories of moms who have used Down Syndrome Pregnancy and the BabyCenter Board over the years, and we’ll be including photos of our Down Syndrome Pregnancy “graduates.” If you’d like to be featured, please email your photo and story to stephanie.meredith@uky.edu.

We do link to this booklet in our book, but an extra tidbit is that my thoughts about my daughter Gabby are recorded there. What did I wish I would have known about Gabby? Check out my quote from the booklet:

I wish I’d known that I would say and feel so often, “You’re so smart!” or “You are the cutest kid in the whole world!” I wish I’d known I would use words like “sparkling,” “vivacious,” and “infectious laughter” when describing my child. I underestimated her.

While you are over at Woodbine House, check out the amazing list of Down syndrome resources that they have available.

New non-invasive prenatal screening tests, such as the MaterniT21™, Verifi®, Harmony™, and Panorama™ tests, have also changed the “waiting game” for many expectant moms who can get a result that is now about 99% accurate from a blood test. We are finding many who are using those results as confirmation for their pregnancy planning purposes without going on for an amnio or CVS. The amnio and CVS are still considered the most accurate (diagnostic) but also have a very small risk of miscarriage. In fact, one recent study showed that the percentage of women getting an amnio or CVS has dropped since the new tests have been introduced. What are your thoughts on how the new blood tests have (or would have) impacted the “waiting game” in your pregnancy?

We want to thank all of the wonderful local Down syndrome organization representatives who attended our breakout session at the 2013 Down Syndrome Affiliates in Action Conference: “Reaching Out to Obstetric Medical Providers and Supporting Expectant Parents and Their Families from Diagnosis to Delivery.” We enjoyed a wonderful session on February 22 talking about how to share resources with medical providers so that expectant parents receive support immediately following a diagnosis, then we described how local organizations can then meet the unique needs of families adjusting to a prenatal diagnosis. Below are the handouts from our session for any who might be interested in finding out how a local Down syndrome organizations can expand their support for families who receive a prenatal diagnosis:

MedicalOutreachDSAIA2013 (Slide presentation from the breakout session.)

AffiliateBrochure (Handouts from the session on available resources for local organizations.)

School presentations: Down Syndrome Pregnancy offers a range of presentations for schools that can be helpful in preparing older siblings and their friends for the birth of a baby with Down syndrome.

Medical Presentation: Down Syndrome Pregnancy also offers a short 15-30 minute presentation for volunteers to share with medical providers on the best practices for delivering a Down syndrome diagnosis.

Prenatal Down Syndrome Resources: While all of our materials are available for free, some expectant parents like to make sure that their medical providers have printed resources on hand in case another family in the office receives a diagnosis of Down syndrome. You can order print copies of “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” and “Your Loved One is Having a Baby with Down Syndrome” from Woodbine House, and you can order “Understanding a Down Syndrome Diagnosis” and “Delivering a Down Syndrome Diagnosis” from Lettercase.

Blogs:

You can also see a range of blogs that have a positive connection to Down syndrome at Down Syndrome Blogs by the T21 Writer’s Alliance. The blogs are organized by category so that you can select which blogs would be most interesting to you.

Video and Social Media:

In the past few months, the Down Syndrome Guild of Greater Kansas City has released a wonderful short film featuring people with Down syndrome and their friends discussing Down syndrome, friendship, and proper language. This is another great tool to share with friends and classrooms to introduce Down syndrome:

The International Down Syndrome Coalition also shared a World Down Syndrome Day video this past week that features images of people with Down syndrome and features the song “Who I Am” written and sung by Sarah Conant.

The Down Syndrome Prenatal Outreach Program was launched by Canister in 2008 and has been used by over 50 local Down syndrome organizations nationwide. The program is now part of the National Center for Prenatal and Postnatal Down Syndrome Resources and is available for any local Down syndrome organization to use.

The first purpose of the Down Syndrome Prenatal Outreach program is to raise awareness among medical professionals about available resources and support. This is best done by establishing relationships of trust between local Down syndrome organizations and medical providers; distributing materials; doing presentations; and maintaining the professionalism of local organizations.

The Down Syndrome Prenatal Outreach program generally consists of a parent or staff contact for each OB/GYN group in the region. The Down Syndrome Representatives replicate the model of a pharmaceutical representative by visiting the OB/GYN offices quarterly to build the relationships, distribute materials, and update the stock of materials as needed. Further, the Down Syndrome Representatives offer business cards with contact information to the medical professionals and are available via telephone calls or in person.

Down Syndrome Representative training is offered to so that Down Syndrome Representatives understand the organization and focus of the Down Syndrome Prenatal Outreach program. The training also instructs parents and staff about how to act as representatives of local organizations.

To view the training course and all the downloadable files, please refer to the Down Syndrome Prenatal Outreach Program page.

Amy Julia’s target audience for “What Every Woman Needs to Know about Prenatal Testing” is pregnant women who have not yet undergone prenatal testing or those who plan to start a family. She explains the range of prenatal tests for Down syndrome (and other conditions) in language that is easy to understand and then explores the reasons why different women may or may not choose to take tests. The approach is informative and balanced — exploring the different practical and ethical issues at hand.

Author Amy Julia Beckers says:

“All pregnant women will be offered the option of prenatal testing. As a result, all pregnant women face a series of personal and ethical questions about those tests. This book is designed to help women navigate the testing process by considering three questions–what is prenatal testing? what information does it offer? and what information do I want, and why? Women who have already started down the road of prenatal testing can benefit from this book in that it offers resources to think through the role of disabilities within our society and the possibilities for considering a good life for children with disabilities. There is plenty of medical information out there about prenatal testing, but this book is designed as one mother talking to other mothers and potential mothers about the questions that matter most to us as we prepare to welcome our children into the world.”

We also appreciate that Amy Julia refers to both Down Syndrome Pregnancy and Lettercase as suggested resources for women who are undergoing testing.

Amy Julia has followed up the release of her book with a series of blog posts from women sharing their different perspectives on prenatal testing, including one from our “Diagnosis to Delivery” co-author Nancy Iannone:

I Regretted My Amnio by Meriah Nichols

Why I Wish I Had Chosen Prenatal Testing by Patti Rice

What do you think? Are you grateful that prenatal testing allowed you to prepare or do you wish you hadn’t found out?