Diagnosis archives

The emotional impact of diagnosis

March 19, 2014 in Diagnosis, Emotions, Post-Diagnosis Health


Many moms report that the most difficult part of being the parent of a child with Down syndrome is the diagnosis and the immediate aftermath. Moms report thoughts and emotions they never thought they would have. Most are not prepared for the onslaught of emotions, and the intensity shocks them. Have you just received a diagnosis? What are you feeling? If some time has passed, how did your feelings change? If your baby has been born, how do you feel now? Do you believe receiving a prenatal diagnosis has helped your state of mind now that you have your baby? Do you regret your decision to find out in advance?

CoorDown in Italy also produced this beautiful video for pregnant moms featuring individuals with Down syndrome. Their message to you expectant moms who may be struggling to understand a diagnosis:

Watch this video featuring people with Down syndrome and their message to future moms by CoorDown in Italy.

The Power of Moms

May 28, 2013 in Book, Diagnosis, Resources

Since May 1, we have raised $8100 towards our goal of earning $10,000 to provide “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome,” to prenatal genetic counselors nationwide. This Mother’s Day campaign was launched with a $5000 contribution from a donor who wasn’t a large organization, a corporation, or a famous philanthropist. This donor was a mom and dad who received the Lettercase book from the geneticist after their baby was diagnosed with Down syndrome and who used “Diagnosis to Delivery” and the Baby Center board throughout the pregnancy. This mom is the same mom who said these resources were her lifelines during her pregnancy that gave her hope and that she wished every prenatal genetic counselor also had a copy of “Diagnosis to Delivery” to give their patients.

This is also a mom I was able to meet in person in the Newborn Intensive Care Unit just days after her son’s AV repair a couple of months ago. I was able to hug her and rub the head of her sweetly resting boy with the tubes still attached to his resilient body. Her son is regaining his strength after surgery and so has his mom as she put into action this effort to help other families.

Since that first donation, other moms and dads have joined us in this campaign … and shared their stories with us along the way. Some of them had a wonderful experience upon receiving a prenatal diagnosis and were given support and information immediately from a compassionate healthcare provider. They want to make sure other families get the same. Others received little to no information and felt abandoned and alone. They want to make sure no other mom or dad ever feels that way.

This is the power of moms: to move past the initial shock and grief of receiving a prenatal diagnosis of Down syndrome and launch efforts to support others. To give support, compassion, understanding … and then hope for a beautiful future.

So, our mom who provided the initial funding has once again generously offered in this last week of the campaign to match donations until we reach our goal on Friday, May 31. Please join us helping her to give a lifeline today.

Mother’s Day 2013: Jenny’s Story

May 10, 2013 in Blog, Book, Diagnosis, Emotions

As part of our 2013 Mother’s Day campaign, we’re sharing stories to uplift and inspire moms who received a prenatal diagnosis of Down syndrome. Enjoy!

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!

Mother’s Day 2013: Jackie’s Story

May 8, 2013 in Blog, Book, Diagnosis, Emotions

This year we’re celebrating Mother’s Day by sharing stories from moms who have used Down Syndrome Pregnancy and the BabyCenter Down Syndrome Pregnancy board over the years, and we’ve also launched a 2013 Mother’s Day campaign to distribute copies of “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” to prenatal genetic counselors nationwide.

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.

Mother’s Day 2013: Give a lifeline

May 6, 2013 in Book, Diagnosis, Resources, Support

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.

Playing the “waiting game”

April 19, 2013 in Diagnosis, Emotions

Did you decline invasive testing, but had a higher chance that your baby has Down syndrome? Many moms keep a “foot in each world,” wondering if their child has Down syndrome, but unwilling to take the risk of diagnostic testing. Many wish to prepare for the possibility so that they can hit the ground running if the baby has Down syndrome. Others ask their doctors to treat the pregnancy as if the baby has Down syndrome. Are you a waiting mom? What challenges has the not knowing caused you? What concerns do you have as you wait? Experienced moms who waited for answers, do you have any advice?

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 more accurate than previous screening tests (though false positives and negatives do occur). 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?

Prenatal Testing: Insight from Moms

February 5, 2013 in Diagnosis, Emotions

Amy Julia Becker’s recently released book, “What Every Woman Needs to Know about Prenatal Testing,” explores new advances in prenatal testing technology, the ethical implications of testing, different reasons for testing, and how prenatal testing impacts the author from a faith-based perspective. Amy Julia is also the mother of a daughter with Down syndrome and the author of “A Good and Perfect Gift: Faith, Expectations and a Little Girl Named Penny.”

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?

The Shape of the Eye (book review)

February 8, 2012 in Dads, Diagnosis, Emotions, Future, Health Issues, Resources

The Shape of the Eye by George Estreich is one of my favorite books and I recommend it highly for those who have a loved one with Down syndrome (or will soon!) and for anyone who loves books. I wanted to have written a beautiful book review worthy of his work, but I find that the time eludes me. However, Lisa Morguess has written a lovely review for you to enjoy on her blog Turn the Page, and as a bonus has an interview with the author on her personal blog Life as I Know It. Read Lisa’s review and George’s interview, buy the book and devour it, and when you love it as much as we do, vote for The Shape of the Eye in the Oregon Creative Non-Fiction category.

Lisa Morguess’ review: HERE
Lisa’s interview with George Estreich: HERE
Buy the Shape of the Eye: HERE

All the single ladies

June 25, 2011 in Diagnosis, Emotions, Future, Support


If you were a single mom during your pregnancy or after your baby with Down syndrome was born, we would love to hear from you here on this blog post. Some of our moms are single moms when they find out their babies have Down syndrome. A few part ways with their partners after a diagnosis. While this may not happen often, those moms would really benefit from hearing from experienced single moms. Will you share your story here?

The journey: one size does not fit all

February 7, 2011 in Diagnosis, Emotions, Resources, Support

In the five years we have worked with expectant parents, we have seen many similarities in the experiences of those in post-diagnosis pregnancy.  Reading of these experiences allows expectant parents to know they are not alone.  We have been where you are.  We understand.  However, this population is very diverse in terms of life experiences, beliefs, personalities, and circumstances. Expectant parents do not all react the same way, nor do they all need the same form of support.

There are many avenues of support available, many ways of gaining confidence, many ways to be comforted and empowered.  Which best fit your personality?  Which best met your needs?  Local groups, therapy, on-line support?   Books on Down syndrome, meeting families, prayer?  Scientific research, personal stories, a specific resource?

Please share with us the combination of supports that best worked for you.

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