Prenatal Diagnosis Archives - Page 3 of 7

Down Syndrome Diagnosis- A Father’s Perspective

August 19, 2018 by Guest Post Leave a Comment

Many moms find comfort in the words of other mothers when learning about a Down’s Syndrome diagnosis, but how are the dads feeling? Though they all feel differently, one dad feels lucky. A Down Syndrome Diagnosis, a father’s perspective, and the unconditional love that comes with it.

My wife and I received the diagnosis of our son having Down syndrome during one of our first prenatal tests, and my wife and I were both confused as to what Down syndrome was, we knew no one with it, and was a big unknown to us. We did a 2nd test, the amniocentesis test, which ran a risk in itself, but my wife and I had to know. The test came back, 99.999999 percent for Trisommy 21, Down Syndrome.

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Down Syndrome, Hydrops, Duodenal Atresia and a Heart Condition

July 20, 2018 by Guest Post Leave a Comment

Down Syndrome, Hydrops, Duodenal Atresia, and a Heart Condition means that the odds were stacked against her from the beginning, but Vera is a fighter.

Vera’s story is amazing, and will likely bring a tear to your eyes as you read. I have shared another story on the blog about hydrops and unfortunately, many babies with this condition don’t make it, but, Vera did and so did Caleb. God sometimes chooses to allow some of these beautiful souls to remain with us here but takes others to heaven much too early. Vera’s mom tells us about what she went through just trying to get her sweet girl here, and her shock at suggestions that she should terminate her pregnancy because of Down Syndrome.

We did a gender reveal at our daughter Lila’s second birthday party! We found out that we were having another girl and we were very excited! A few days later I got a call from my OB telling me that she was so sorry but there were markers for Down syndrome in my blood. Why was she sorry? She acted like we were losing our child the way she delivered the news of the possible DS diagnosis. Of course we were nervous, anxious, and confused.

She told me I needed to get a “special” ultrasound at another hospital. The doctor at the other hospital was AWFUL. He kept trying to push an amniocentesis and I told him it was too invasive and there was a chance of miscarriage and that it did not matter, she was our child. He asked if I knew anything about “the Down syndrome” and I told him I would like more information. He googles it and circles the face of a sweet young boy with Down syndrome and says this is what “they” look like. “Have you ever seen them?” I could not believe how ignorant and unprofessional this so called doctor was. He told me that the divorce rate was high and our 2 year old was likely to be depressed and that we had a short window to take care of “it”. I said take care of what?! This is our child! God entrusted us with Vera and we would never harm her! It broke our hearts that a Down syndrome diagnosis was delivered with such negativity!

We decided to change OBs and found an amazing hospital that did not look down on our baby for having Down syndrome! They gave us resources which led us to finding that we were not alone in this new journey! We started advocating for Vera before she was even born. Then when I was 20 weeks pregnant, we found out that Vera had duodenal atresia. This prevented her from being able to digest anything so shortly after birth she would need surgery to fix it.

When I was 29 weeks we found out the heartbreaking news that Vera had fetal plural effusion also known as fetal hydrops which is an excessive amount of fluid. This fluid was pushing her heart to the other side of her body! Her heart was failing and we were told she would die if I didn’t go through a surgery procedure to place a shunt on her side to drain fluid from her body. Our hearts broke, this was so unexpected! This procedure was very risky and there was a chance of miscarriage. But it was a necessary risk because we were about to lose her!

We had the night to pray and mentally prepare for the very next day and we had everyone praying for baby Vera. Everyone already knew she had Down syndrome and needed surgery after she was born but not that she was in heart failure from fluid overload and she was at risk of being stillborn.

We had no idea how her little body could handle a procedure like this. I was sedated but felt everything. They had to drain 2 liters of amniotic fluid to even reach her! When they put the shunt in Vera’s side, I felt sharp stabbing pain, it was incredibly painful but I knew I had to stay as still as possible to protect her.

After it was over I was placed on bed rest for a week. It was very hard to walk around for the first week.

If I picked up our 2 year old or lift anything my water could break and I was only 29 weeks at the time. My in laws were so amazing! They watched our daughter Lila for the week while I was healing. It was so hard being away from our daughter and it felt like a piece of our hearts was missing. Thankfully my mother in law brought Lila by to visit us but it was so hard not being able to hold her!

A week later we went back for a follow up ultrasound to see how the shunt was working. One of our worst fears had come true as we were told I had to go through it all again because now the fluid had shifted to the side that did not have a shunt and Vera was still in fluid overload.

So this time they sedated me more; and I didn’t feel a thing. When the procedure was over, they told us that Vera had rolled over in the OR while they were placing the shunt, so they were only able to drain fluid from us both using the amniocentesis needle. We took this as a sign from God saying “I’ve got this, she doesn’t need that shunt” and I felt at ease. Another week slowly dragged by, was our baby okay? How many times could her body handle this procedure? We really missed our daughter as she continued to stay with my in laws another week. For this next follow up ultrasound I had my mother in law and Lila come with me! We were all so hopeful that this time we would get good news! But this time we were told that Vera‘s growth rate had gone from 10% to 5% and that she was on the verge of reverse blood flow which meant she would no longer be safe in my body. My heart sank.. I was in my 3rd trimester but I was only 31 weeks and 5 days along. I was admitted that night until I delivered. I felt so much relief hooked up to monitors tracking her heart rate and hearing her heart beating strong! I was able to get some sleep but was woken up abruptly to nurses putting an oxygen mask on me and pushing fluids through my IV in the middle of the night.

They told me that Vera’s heart rate had dropped and I needed some oxygen and to change positions, which helped bring her heart rate back up! The next day the doctors told us that 35 weeks was ideal from a surgery standpoint as she still needed gastrointestinal surgery right after birth and not to mention her lungs were very premature. That night I was woken up two more times by nurses telling me to change positions. Before going back to bed I prayed that Vera would remain safe no matter what and that if she was meant to come soon, He would protect her. I am really sick to my stomach and my heart is beating out of my chest as I continue to type.. I was woken up a third time but this time there were 10 people in the room. Everyone was being so loud and yelling. They told me they needed me to get up on all fours, as they could not find her heart rate while I was on my back. I was panicking. They were pushing cold IV fluids, putting an oxygen mask on me and then they put a surgical cap on my head. They told me that she needed to be out NOW as they could not detect her heart beat anymore and told me that I needed an emergency c section. I was only 32 weeks and I started shaking uncontrollably, crying and praying. I begged God not take her from us. I begged Him to take me instead.

They wheeled me into the OR and told me they needed to put me under, it felt like forever waiting for the anesthesia to kick in and I started having a panic attack. I felt like my heart was being ripped out of my chest, laying there on that table with the fluorescent bright lights, not knowing if Vera was alive or not. My husband was so scared too, he did not know if he was about to lose us both since he was woken up when they wheeled me out of the room early in the morning.

When I woke up; I immediately asked how Vera was doing. They told me that she was out within two minutes and that she was kicking everyone in the OR! Praise God! Vera Rose Conner was born on August 4th at 5:31am. She weighed 3lbs and was 15.5” long.

I cried happy tears and thanked God for answering our prayers! It was hours before I could see her because I was in excruciating pain. I was grateful that my husband was by her side from the moment she entered this world and that she wasn’t alone.

Those first moments of seeing her were really tough. Here she was this tiny 3lb baby who had a lot of fight in her! She was laying on a tiny bed surrounded by doctors and nurses. She was hooked up to so many machines. I was able to talk to her and give her my finger which she squeezed when she heard my voice and I cried happy tears again! God is so good!

We were told that there was a moderate to large sized hole in her heart, this news was so unexpected.

Back when I was pregnant, we had been told that she had no holes in her heart and her heart was a 10 out of 10 which had given us relief during my stressful pregnancy. We were also told that the duodenal atresia repair needed to be done at three days old. Joy turned into fear once again..could her tiny body handle these two big surgeries?

After seeing her for a brief time, Vera went to the NICU and I had to go back to my room to recover.

My husband went with Vera and took pictures of her sweet face for me! He stayed with her in her private NICU room and came to visit me a few times that night. The very next day I was able to finally see her for more than a few minutes. I was wheeled down and every bump hurt and I just wanted to cry. Recovery from an emergency c section was extremely painful!

I had a major panic attack when I got to Vera’s room. She was just laying there with a breathing tube, hooked up to so many machines. Her tiny body had several tubes and IVs. I was finally able to hold her days after she was born before her surgery; it took four nurses to get her on my chest! It was a surreal moment. Here was Vera our sweet tiny fighter laying on my chest.

We celebrated each tiny victory and tried to not get our hopes up too high. The rooms around us kept changing, new families every few days. It felt like we would never leave. We dreamt of being home together; as a family of four. Those long NICU days were stressful and it felt like they would never end! But they did, after 53 long days of many ups and downs. Veras life is a true testimony of God’s goodness and His love!

My name is Brandi! I am a 28 year old follower of Christ, wife to an amazing husband and mommy to two beautiful daughters! Lila May is our sassy three years old. And Vera Rose turns one in less than two weeks! We found out Vera had Down syndrome early in my pregnancy. We want to show the world that Down syndrome isn’t scary and life is not over! Vera brings SO much added joy to our family! Follow the rest of the story on Instagram @verasvictory_t21

Have you ordered your copy of our book Down on the Farm yet? Get yours now on Amazon. This makes a perfect addition to any home library, a donation to your local library or better yet, a gift for a teacher for the upcoming school year!

Don’t forget to check out our store page too for all of your Down Syndrome Awareness Jewelry needs!

Continuing a Down Syndrome Pregnancy- the Joy that Follows

July 13, 2018 by Guest Post 1 Comment

A prenatal diagnosis of Down Syndrome can be a very hard thing to hear. For some women, the previously unthinkable crosses their minds, the worry sets in. Maura shares her story of how she moved from fear and uncertainty about continuing a Down Syndrome pregnancy, to the joy she now feels when she looks at her son.

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Limits for a Special Needs Child with Down Syndrome

June 27, 2018 by Guest Post 2 Comments

What are the limits for a special needs child with Down Syndrome?

Society would have us to believe so many limits are in place. Limits on what they will be able to accomplish, limits on their physical development, limits on their educational opportunities, limits on their personal relationships, but what does a mom say about the limits for a special needs child with Down Syndrome? Trista shares some insight.

Limitless

You can imagine all the interesting comments I have gotten over the past couple of years regarding my daughter having Down syndrome. Comments bred out of ignorance, assumptions and generalizations. Even things that came up in my own thinking before having my daughter with special needs. I do know that it’s time to start breaking through those comments to show the world how important people with different abilities are.

It was a complete surprise to me the day I first heard the doctor suspect my unborn baby had Down syndrome. I thought maybe I misheard what he had just said or perhaps he himself was confused. The twenty-week ultrasound showed she had a severe heart defect that would require surgical repair soon after her birth. As if that wasn’t enough to take in and process, the idea of being a mom to a daughter with special needs sent me for a loop.

I sat there laying on the bed in complete shock as he continued on saying I could choose to go through further testing to confirm his suspicions.

I was only 31 at the time, with two other typically-developing healthy girls. This far into motherhood it never even occurred to me to anticipate something other than what I already had.

A couple of weeks later, it was confirmed through a non-invasive blood test that the baby I was carrying in my womb did in fact have Down syndrome. The Genetic Counselor offered reading material over the phone when she called to deliver the news. Her voice sounded distant and full of sadness as she said explained the test results to me.

I sat on the couch after that phone call as my mind began racing, my heart pounding as I tried to wrap my mind around what this would mean for me. It felt like completely new territory to me, having very little experience with people with Down syndrome. What was my life going to look like moving forward? I sat and worried about the future.

I turned to social media as I explored personal accounts of how deeply touched people have been knowing individuals with Down syndrome. The majority of articles I came across seemed so positive and I wondered why I had had a different idea in my own mind I had made up regarding people with Down syndrome.

I thought back to those that I knew with Down syndrome growing up. I didn’t make it a point to get to know them or their families. I let the opportunity slip right through my fingers. And if it weren’t for the baby in my own womb, I wondered if I would have gone my entire life missing out on an entire group of the most beautiful people I have ever come in contact with.

Her first few months were wild and chaotic as heart surgeries and hospital stays dominated our lives. She fought hard through it all right from the beginning. I sat with her day in and day out in the hospital, holding her tiny body close to mine praying God would heal her. That the heart surgeries she was enduring would make her heart strong and whole. She made it through and eventually it was time to take her home.

The Beauty of Everest- A Prenatal Down Syndrome Diagnosis

May 27, 2018 by Guest Post Leave a Comment

A Prenatal Down Syndrome Diagnosis

The unexpected news is what is usually so hard on a new mom. When you are anticipating a typical path, and you are given a slight detour, it can rock a mama’s world. This is where moms overcome, and are reborn as the most fierce mama advocates. A Prenatal Down Syndrome Diagnosis is not the end, it is only the beginning. Meet this beautiful baby, Everest, and her equally strong and beautiful mama, Taylor.

At my 20 week ultrasound I took videos of my baby girl dancing on the screen because my husband couldn’t get off work to join me. I was making conversation almost oblivious that the ultrasound tech kept going back to Everest’s heart. Apologizing that it was taking so long, she said that Everest was tucking her chin and causing a shadow so she couldn’t get a good picture. I asked if everything was looking good and she said so far so good.

I took my handful of ultrasound pictures out to the lobby and waited to meet with the doctor. As the office began to empty the picture of Everest’s feet stuck out to me, I sent a picture to my husband and jokingly asked where she got her long toes.

When the waiting room was bare my nurse called me back. I was still all giddy over the pictures of Everest I didn’t even notice she skipped all of the usual vitals. My doctor stepped in and sat down in front of me. The next few minutes were a blur, but I know he said there are some features that point to Down syndrome; an absent nasal bone, short femurs and a heart defect. He was going to refer me to a specialist. Also, he wanted me to get the harmony test that I had opted out of previously. I sobbed. He gave me some time alone, and I had to go ask him where to go for labs and when my next appointment was because I couldn’t remember anything that he had just told me.

I was barely out to my car and the first call I made was to my husband and all I could say was “there is something wrong with our daughter”.

The next day I left for a road trip with a friend. Most of the nine hours in the car were talking about the previous days appointment and what Down syndrome might look like. I looked through my Facebook friends ultrasound pictures to look at their babies nasal bones and their feet. After some google searches, I found out that Down syndrome causes sandal gap. It’s a gap between the big toe and the second toe. Back to Everest toes… that’s why it looked like her second toe was longer than her first. I got the call from my doctor when we were at a spa in Taos, New Mexico that the blood test came back and “confirmed what we were suspecting”. I went outside and called my husband and my parents and cried. I received a text later saying “it’s ok to mourn” this didn’t sit right and I knew from that point that I had to show everyone that this baby is still my perfect baby.

Up to that phone call, everyone was telling me they were praying for healing of our baby girl. That killed me. I felt like people were saying she isn’t perfect. Even after the blood test came back positive I had people tell me that the results could be wrong. Deep down I knew that she had Down Syndrome as soon as the doctor said he suspected it.

I had family members asking me when was too late to get an abortion. And another one tell me this is why they offer the blood test early on. I opted out of the test because I knew regardless of any of the results that would come up would have no affect on my love for my child. Almost 70% of babies in AMERICA with high risk for Down syndrome are aborted, and in other countries close to 100%.

When the appointment with our specialist finally arrived, he couldn’t tell us anything except that her heart defect was out of his league. He referred us to another clinic even farther away.

More waiting.

Our next appointment was on a Friday afternoon, for a fetal echocardiogram with a cardiologist. She told us that Everest not only had a hole in her heart but two holes and common valve which would require surgery at around 8-10 pounds or 4-6 months old. Also, she had a coarctation of the aorta which would require surgery at birth so I’d have to deliver Everest there. She said that Down syndrome causes low muscle tone and that could delay feeding so we could be in the nicu until the second surgery. Four to six months, three hours from home. After all of that news my husband, my parents and I were all stunned. We could barely talk to each other. Then the Maternal fetal medicine doctor came in, the only thing he told us was it looks like she doesn’t have a stomach…. again silence from everyone. He asked if we had any questions and left. The genetic counselor came in to chat with us and the mfm popped his head in again and said that the other doctors didn’t mention the missing stomach and left again.

The following Monday I was on the phone with my doctors office wanting to know why they didn’t tell me she was missing a stomach.

A few weeks later at the same office I had another mfm tell us that Everest was in the 10th percentile and in a “normal” pregnancy they would want to see us twice a week so we didn’t lose the baby, but the decision was up to us. I was shocked!!! I asked her what the question was…. and then proceeded to ask when our next appointment would be. This still blows me away. A doctor telling me that my pregnancy isn’t “normal” because of an extra chromosome. I was going to Little Rock once a week for an ultrasound as well as my doctors office in Fort Smith for the last two months of my pregnancy.

Following that day, I was talking to someone who’s wife was also expecting a baby. I asked how everything was going and he told me they had the harmony test done and were anxiously waiting on the results. He said that the doctor told them no phone call was good news. My heart sank and my throat closed. Fighting the tears I knew I had to stand up for my unborn daughter. I told him that I had opted out of the blood test but found out at the 20 week ultrasound that Everest had Down syndrome.

I vow to be my daughter’s advocate as long as I live. She is so loved by many. I’m so thankful to be blessed by her life and to have the privilege to be her momma.

Taylor has been married to her husband Brody for 3 years. They love to go on adventures together like camping, backpacking, rock climbing and kayaking. Now they have an extra adventure buddy to go with them, Everest, and she loves it just as much. Follow their journey on instagram @stayycharmed.