In the beginning…

{3.29.2016}

These past few weeks have been some of the hardest of my life. They have also been some of the most humbling and strengthening. I had taken the Harmony prenatal test 12 weeks into my pregnancy. Essentially, this test is to screen for trisomy 21, 18, and 13, but we wanted to find out the gender of our baby, so we didn’t really pay attention to the screening information. Why would we? Well, earlier this month, we got the call that we were having a baby girl (yay!), but we were also told that we had an abnormal reading on the trisomy 21 portion, meaning our baby had an increased risk for Down syndrome. My doctor said it was “probably one of those pesky false positives”, but we needed to be seen by a specialist to check things out. My heart was beating so hard and fast that I was scared the doctor could hear it over the phone. That week passed slowly with this news weighing on my mind, but I was able to get through it with optimistic thoughts.

This is just a false positive.” 

We are young and healthy.” 

We are extremely low-risk.” 

This kind of stuff doesn’t happen in real life.”

I had it all mapped out in my mind…we would walk into the genetic counselor’s office the next week and this is what she would say:

“We’re sorry you have to go through this, we are seeing this all too often with these new screening tests. You are low-risk and in good health with no family history of genetic disorders. We’ll do an ultrasound to make sure everything looks good and then we’ll be out of your hair.” 

Then we’d get to see our baby once again (which is the greatest thing on Earth) and we’d walk out with smiles on our faces.

Unfortunately, our reality was nothing like that. Instead, we heard that the screening tests are very sensitive, that even though we are young and healthy, this test said we still had a 35-55% chance of having a baby with Down syndrome. My heart was racing and I thought I was going to get sick when I heard these numbers. This was not what we were supposed to hear. I couldn’t believe we were even in this position! I looked over at Jacob and I could see the worry on his face. The counselor spoke about our options for testing. Amniocentesis was the only way to test the baby’s DNA and know for sure if our baby girl had a genetic disorder. This is where they insert a needle through the mother’s abdomen, uterus, and amniotic sac to retrieve amniotic fluid. The fluid has the baby’s skin cells in it, which they use to test her DNA. However, this invasive procedure carries its own set of risks and is costly.

As soon as we stepped out of the office, we dialed our health insurance while we waited for the ultrasound. If this procedure was covered, we were scared enough to do it. My perfect baby girl had up to a 55% chance of having Down syndrome. I knew nothing about the syndrome and was terrified of what her quality of life would be. Would I be able to love her as much? Would she have friends? A husband someday? Tears rolled down my cheeks as Jacob gets off the phone saying that the insurance will cover the procedure after the deductible is met. This is it! We will know for sure and we can prepare ourselves for whatever is thrown our way.

We walked into the exam room for my ultrasound. Within seconds of applying the imaging gel I felt a wave of relief. I can see her! She has two arms, two legs, ten fingers and ten toes. She looks perfectly “normal”. She’s wiggling around so much and she’s bigger than the last time we laid eyes on her. I smiled and knew that everything was going to be fine. I reminded myself that these things just don’t happen in real life. This wasn’t so scary after all. I looked at Jacob and told him my thoughts. The next thing we knew, the physician was joining us. She introduced herself with a warm smile and tells me that she was watching the images from her office. She had a few things she wants to make us aware of. First, there was an increased amount of fluid behind baby girl’s neck. “This is very characteristic of a baby with Down syndrome.” My heart sinks to the floor. “Oh, and here’s another possible characteristic,” she says in a gentle tone, “she has a very small nose…” she says as she motions to the small bridge on my baby’s face. She explains, with a smile, that it could be a trait that she inherited  (I have a noticeably small nose), but this is also common with Down syndrome. Her demeanor was light and calming, but I was having trouble processing all the information.

I was in disbelief. This was the opposite of what I was expecting. They asked us if we wanted to schedule the amniocentesis. I looked at Jacob who immediately declined. I could see the pain in his eyes. There was nothing he could do for me or our baby. No test was going to change that. I decided to schedule anyway. I needed to know. I had to prepare myself for whatever lies ahead. I can’t rely on positive thinking anymore. As soon as my belly was wiped clean, I stepped into the restroom and barely got the door closed before I broke down. My world was upside-down. I felt like I was riding a roller coaster where I had to pull myself together every 30 seconds. When did life get so complicated?

As we left the hospital that afternoon, my sobs became uncontrollable. I thought, I don’t know if I can do this. Will I be enough?” That’s when Jacob put his arm around my shoulders. “It’s okay,” he says, “we are still going to love her…”

Though this possibility of Down syndrome came as a shock to us, we slowly came to terms with the probable outcome over the next week through our research. Every child is going to have its own set of obstacles. Maybe she won’t have the disorder, but she’ll struggle in math? Maybe she won’t make the varsity team? If she does have Down syndrome, we are going to have to be patient with her learning and development, but maybe she’ll love to draw and sing? Maybe she’ll make a friend around every turn and receive lots of support from those around her? There was just no way of knowing which path was going to be given to us. All we knew is that we were in this together and we would overcome any obstacle that was in our way, whether our girl had Down syndrome or not.

That following Monday morning Jacob had to coax me out of bed. Tears stung my eyes and I couldn’t find the motivation to get dressed. It was time for my amnio procedure and I was terrified. I kept thinking  It’s just twice, once through my stomach, once through the uterus, and then it’s over with. I still cried almost the whole way to the hospital. With Jacob’s hand in mine, we were lead back to the Maternal-Fetal Medicine quarters, which is a convenient distance from all the “normal” pregnancies. We were sat in a separate waiting room and only then did I start to breathe a little deeper. Stress was only going to hurt our baby, so I changed my mindset to “Let’s do this.” No turning back.

In the exam room, I laid back and looked at my little bump. “Jacob, look how lopsided I am! I think she must be on my right side,” I said, smiling. We started out with an ultrasound. Sure enough, there she was! We watched her wiggle around while the ultrasound tech took some measurements. Being able to see my baby relaxed me more than words can say. I could have sat there and watched her all day long. From her position, they decided to go in just to the right of my belly button. While the tech and physician prepare for the procedure, I got up to use the restroom. By the time I laid back down, I noticed that my bump had evened out. As I noted this, they pull up the sonogram only to see that she had shifted to the other side so they had to reposition the needle. “This kid is moving around on me!” Our doctor laughed. Not only that, but Baby Girl kept waving her arms right where the needle was going! We waited briefly for her to settle down and I watched her kick her tiny little arms and legs. She was so active! Between all the pauses and the sudden change of position, I was really thrown off guard. Even though I was distracted by my beautiful baby, I wasn’t ready for the sharp pain that came from the very lower part of my belly. It was fast and not what I was expecting at all. With one quick movement (she straight up stabbed me), she had penetrated all layers and was extracting amniotic fluid before I even realized what was going on. Unfortunately, I started to hyperventilate because of the shock. Fortunately, it was over with very quickly and I had Jacob’s hand on my shoulder the whole time.

And that was that. I spent the remainder of the day on bed rest with “Dr. Husband” watching my every move. The best words I heard all day were from him: “I am so proud of you.”

The next 9 days were spent watching my belly grow. She must have been going through a growth spurt and it was a great distraction! I kept joking that I must be growing Godzilla because I couldn’t seem to satisfy my monstrous appetite! I also worked on our baby registry. I found that I have quite the obsession for hooded towels and animal hats 🙂 Between these distractions and working to get our house ready to sell, the days passed surprisingly quick.

And here we are. The reason I have decided to start this blog is because we got news that our daughter has Down syndrome. Jacob got the call and updated me as soon as I got home from work. I couldn’t quite believe my ears when I heard the words, even though I knew of the great possibility. The disbelief I was experiencing was different than the shock I felt the first time. Even though I couldn’t stop my tears, I knew that everything was going to be okay.

It felt good to tell our family, to have them on our side. Though I could hear the shock in their voices, everyone was extremely supportive and mostly concerned with how Jacob and I were taking the news. I felt so knowledgeable on the subject. I didn’t realize how much I learned during this trying time.

We decided to make a public announcement. The last thing I wanted was for us to look ashamed or embarrassed by our daughter’s diagnosis. I also want people to look at pictures of my baby and not be shocked or confused by her appearance. Down syndrome is not who she is (or will be), even though it is now a big part of our lives. I want people to say “Oh, look at how cute Baby Dent is!” Not “Oh, look at how cute she is!…but WHAT is going on with her?” I felt nothing but relief for the first few moments of posting our announcement. It’s out there! Let’s embrace it! Then it sunk in. It. Is. Out. There. This is real and it’s happening to us. I felt another dip in the emotional roller coaster that my life had recently been. Thankfully, the responses we received and the acceptance that we felt made all of that better.

Now my days are currently spent researching anything even remotely related to Down syndrome. I have so many questions bouncing around in my head… How does my registry need to change? Will I be able to breastfeed? Which doctor do I see now? Should I change my diet? What will life be like when she’s an adult? What are the steps I can take to make her life better?

I am not the only one who is curious about these things. Many friends and family are also wondering how Down syndrome will affect our baby. As common as it is, there are many misconceptions of the syndrome and I have learned that our daughter’s potential will not be limited. I have started ordering books and other reading material to circulate through the family. The great part is that everyone is eager to learn and to help. I feel like every other response we’ve gotten is from someone who knows a person with Down syndrome, and now I do too. It’s rather incredible how things like this can connect so many people.


In a nutshell….

A big reason for me sharing this is so I can educate those who might be a little curious about Down syndrome, so here is what’s going on inside. Basically, our girl has an extra chromosome. Instead of two, she has three of chromosome #21. There are other disorders when the extra guy is on different chromosome. Trisomy 21 (aka Down syndrome) and trisomy 18 are the most common.

There are three ways that trisomy 21 happens and they are called nondisjunction, translocation and mosaicism. I won’t get into the scientific explanation, but nondisjunction accounts for 95% of all Down syndrome cases. It is when the cells do not split properly during meiosis. It can be from either the mother or father and this occurrence is quite random and “out of the blue”.

Translocation Down syndrome accounts for 4-5% of all occurrences. With this kind, a whole or piece of a chromosome breaks off and attaches to another. This is the only kind that is hereditary.

Mosaicism Down syndrome is the least common and is when some cells have the correct number of chromosomes while others show trisomy 21.

In any case, there is nothing that the parents can do differently to prevent this.  Baby Girl has nondisjunction Down syndrome, the most common and non-hereditary kind, which is why I was surprised to find out a little bit about my family history after we got our diagnosis.

My dad’s youngest brother would have been 28 if he’d survived. I never knew why he passed away until recently. It turns out that my uncle had Down syndrome. He had a hole in his heart and Hirschsprung disease, which is a lack of nerves in the bowels. Ultimately, he had a bowel obstruction and passed away from septic shock at 1 month and 3 days old. I was blown away when I heard this news. As I mentioned, we are dealing with nondisjunction Down syndrome. I called our genetic counselor to get her thoughts and she said it was basically “lightning striking twice in the same family.” What we have is not hereditary.

What all this means is that our baby will mostly likely have low muscle tone. This can cause some developmental challenges. She will still reach milestones, such as sitting up, walking, talking, etc., but it might take her a little longer than a typical child. We plan to be very involved with her therapy, if she needs it, and we will encourage stimulating activities and toys. The more we can strengthen every muscle in her body, the better. This means the muscles in her legs, hips, neck, even down to her fingers and eye muscles.

Down syndrome is pretty recognizable to most people. She will be smaller in stature (which was probably going to happen regardless, when looking at her parents). She will most likely have up-slanted eyes and a small nose (again, probably going to get it from her mother anyway). She might have shorter fingers and toes, and even a deep crease in her palm. She’ll probably have some of these traits, and I just know that she’s going to be the most beautiful girl the world.

She might also have a weaker immune system and possible hearing and vision problems. She might have a heart defect or problems with her organs, like my uncle did. These things are very common with Down syndrome babies and surgery might be needed. I am confident in modern medicine and I believe that for every issue we run into, there will be a solution. Besides, all symptoms can range from mild to severe. These are possibilities, not expectations, and the list goes on and on, but the truth of the matter is that we just won’t know what we’re dealing with until she is here.

She might have all or none of the issues listed, but regardless, she’s going to be a little girl. She will still need to be nurtured and loved, and even though Jacob won’t admit it, she will still need her diaper changed 🙂 We have a lot to learn as we raise a child with Down syndrome, but any new parent has a lot to learn. We feel lucky to be given this challenge because I know that we can handle it.

Obviously, I am no doctor, and my knowledge of Down syndrome is newly found, but this is what we have found out through our experience over the past few weeks. We have some amazing doctors that we can depend on and trust. My OB calls me personally, even on the weekends, to check and see how I’m feeling physically and emotionally. Our Perinatologist (high risk pregnancy doctor) is equally amazing and puts us at ease, even when laying out the sometimes troublesome details. Our genetic counselor was great with helping us through a very confusing and stressful time. I sure hope that no one is worrying for us, because I am convinced that we couldn’t be in better hands.

The outpour of love and support that we’ve received makes this a lot less lonely for Jacob and I. Actually, the most overwhelming part of this whole situation is realizing how lucky I am. Our friends, our families, every single person, whether we talk regularly or not, has been so incredibly wonderful and supportive. It makes me feel like we CAN do this. And we will. Everything is the way it should be.

 

*Jacob and I plan to be very involved with The Down Syndrome Guild of Kansas City. In case you want to read about them and/or donate, this is their website: http://www.kcdsg.org/index.php