Twins- Down Syndrome Diagnosis and Preparing for Open Heart Surgery

Each story shared here has immense meaning.  I have to say that the twin stories always capture my heart…see what you think about Elizabeth’s story and how it touches you.

My ray of sunshine, my heart warrior, the daughter that I’ve always wanted. She’s the youngest of 3. She has an older brother Evan, whose 3, and another brother a minute older than her, her twin, Ian.

She was born on October 5, 2016 weighing a whopping 3lbs 9oz. She was the tiniest baby I’ve ever seen.

Rewind to the moment I was having my first scan done and I heard, “I’m just going to make sure there aren’t two”

ummmm WHAT?!?!

Sure enough, as the probe is moved over… there it is!! Another little jelly bean.

Now I don’t know which baby was which, but I have a very strong feeling that this one was Ava. I feel this way because when we first looked, the baby didn’t move at all. We waited and it still didn’t move so my doctor started to explain that this is common in a twin pregnancy, to lose one early on. I don’t think he even had the whole sentence out before the baby started wiggling all over the place.

For a split second as he was telling us it could be gone I was SO relieved. I couldn’t be a mom to twins. I had pretty bad PPD and PTSD after the delivery of my first born and now to have two?! No way, Jose

However that split second was gone and then as we saw it move I again felt tremendous relief because, the baby was still with us.

I’m a very strong Christian believer, and as scared as I was, I knew God was giving me these two babies for a reason and I wanted them both.

At 19 weeks we went in for our anatomy scan and found out Baby A was another sweet little boy and Baby B was a beautiful, much anticipated, little girl!

We were over the moon.

At this point she had been measuring smaller than her brother, which we were told was common with twins. She was steadily growing so they weren’t too concerned up until now. The high risk Dr was concerned because our little girl was in a very low percentile. It was mentioned that something “could be” genetically wrong with her, but we had no soft markers and she was healthy so we would just be very closely monitored.

We got lots and lots of ultrasounds which I loved. It was always so amazing to me to see two growing babies inside my womb.

What an amazing thing to say I carried two!!

We finally picked out names, Ian and Ava.

We loved Ian because it was Gaelic and meant “the Lord is gracious” it went perfectly with our first son’s name, Evan. After a lot of back and forth we settled on the name Ava for our sweet little girl.

I find absolutely no coincidence that her name means “Life”

At 30 weeks we went in for another ultrasound to check on growth. Well when the dr came in to talk to us she sounded a little different this time. They were still pretty concerned about Ava’s weight. Having the talk with us again, that she could have something genetically wrong. It was then mentioned to us that in one of the four pictures they got of her heart, they thought that they saw a hole.

We were told not to worry nothing was for sure yet. I was scheduled to go in for a fetal echocardiogram and to have weekly biophysical profiles done to ensure that the twins stayed healthy. I was also to get non stress tests done weekly.

Both my OB and high risk said I would not go any farther than 37 weeks but they both had a feeling they would come sooner. At 32 weeks I had my echocardiogram and even though Ava was ALL over the place and wouldn’t cooperate the cardiologist was pretty certain she had what is called an Atrioventricular Septal Defect.

Basically she has two holes, an ASD and a VSD forming one big hole in the middle of her heart and instead of two valves she has one common valve forming a canal.

The doctor drew me a picture of the normal heart and then of Ava’s heart. Explained it all to me and at one point she said, “We do see this kind of defect a lot in babies with Down Syndrome but we do see it a lot in babies without it as well.”

I sat there trying my best to keep the tears in, to try and focus on what she was explaining so I could then explain it to Mike since he couldn’t be there with me.

Deep down I had already had a very small voice telling me that she had Down’s Syndrome. I didn’t want to tell anyone because I felt if I said it out loud then it would make it true.

When I heard the pediatric cardiologist tell me this, I felt as if this could be a small confirmation she had it. Of course we had no official diagnosis. She had no soft markers on her anatomy ultrasound. I googled what the signs were on ultrasounds for a baby with Down’s Syndrome. One of the main symptoms, an absent nasal bone, was found to be true as far as I could tell when I went back through my previous ultrasounds.

I had declined any testing done for genetic defects, because, to me it did not matter. I would love these babies no matter what they had wrong with them.

But would I?

My hormones were raging. I know I cried at some point. I questioned strongly if I could love her.

What kind of awful mother thinks that?! I had wanted a daughter for SO long. A “normal” one. One who would be my best friend like my mom was to me. I wanted to watch her do normal things, get married, have a family. If she had Down Syndrome, then none of this would happen.

She would be disabled her whole life.

She would live with that stigma, people would only see her as someone with Down Syndrome.

I can clearly remember having a talk with Mike about her possibly having Down Syndrome. He didn’t even hesitate when he said it didn’t matter to him, she was his daughter and he loved her, it just did not matter. Of course I felt even worse. He asked me at some point if I was going to be able to love her. Man did that break me into a million pieces.

For those that know me closely, I am a huge worrier. I could find something to worry about in every situation. So here I am, high risk pregnancy being told to keep calm, relax not to worry about all of these very scary things I was finding out about my unborn baby.

I pushed through my emotions and focused on the fact that they were both healthy. I clung to my faith that everything would be okay, no matter the outcome. I had a very rambunctious two year old that kept me busy and kept my mind off of stuff.

I was so thankful I had him.

I continued weekly with my BPP’s and NST’s. 34 weeks came quickly and on Monday October 3 I went in for my normal tests. One of the things they look for in the BPP is the blood flow in the umbilical cord. During this BPP Baby A’s Doppler of the cord was abnormal. He had been perfect the whole pregnancy and now his placenta was showing signs that it was starting to shut down.

This concern could mean I was also starting to develop preeclampsia, which I had with my first pregnancy. So far my blood pressure had been beautiful, I was so proud haha! It was still normal at this appointment too. High risk Dr came in and said now that Baby A is showing signs of distress along with Baby B having an intrauterine growth restriction (IUGR) it’s time for these babies to make their big appearance. They had gotten to the point where they weren’t thriving in the womb anymore and would do better on the outside. We made a plan for me to receive a betamethasone shot that day, and another 24 hours later. I would also have another NST done when I came back for the second shot.

Since the babies weren’t seriously at risk it was best to get these shots in to get their lungs matured a little bit. On Wednesday we would come in for a scheduled csection

I was told what signs and symptoms to watch for, take it easy and get some rest.

Yeah right, I had so much to do!

Over the weekend, we had gone out and done some fun fall stuff with Evan. I think both Mike and I had an idea that the time was coming and we wanted to enjoy the last few days we had as a family of 3. We did our best to prepare Evan for us to be gone for a little bit and to get him to realize he would be becoming a big brother.

Our first time going through all of that it was so scary, but this time I was able to take a shower and somewhat mentally prepare myself. Right around 9 I was walked into the OR. Had my spinal done. Shortly after the nicu team arrived as did my doctor and so it began!

It seemed to take forever. I remember saying something about it to the anesthesiologist about how long it was taking and he told me they were just starting to cut into my uterus and it would be any minute.

Sure enough a few short minutes later I heard that sweet newborn cry. Out came my Ian with a full set of lungs. Then what felt like a millisecond later but really was a minute out came my Ava. Also screaming but it sounded so sweet and girly. I know I said that out loud, “She sounds so girly!” I heard my doctor say the cord was wrapped around her neck twice. I’m glad I heard her screaming first before he told me that. Mike sat next to me and watched as they assessed our babies.

Finally someone came over and asked if he wanted to come see them. I was trying my best to see what I could but you can only move your head so much and you have a giant curtain in your face! Mike finally came back over to me and was such a proud  Dad. He was telling me how little they were and how much hair they both had. We heard their weights, Ian was 4lbs 8oz and Ava was 3lbs 9oz. A whole 8oz bigger than what we thought she would be. Mike then said something to me that still makes my eyes water a little when I think about it (except now it’s for a good reason) he said, “Ava has some physical features that are leading them to think she has Down Syndrome so they are going to do lab work to test for it.”

I can’t remember my exact thoughts but I do know I was scared, I was devastated, I was ashamed for feeling scared and devastated. At this point I hadn’t gotten to see her yet. I didn’t see her sweet little face yet or get to smell her or feel her soft skin. I hadn’t gotten to see that she was like any other NORMAL baby.

They brought Ian over to Mike so he could hold him. We were so excited! Everything was so scary with Evan and this time it was so smooth. It was exciting and happy, minus of course the lingering thoughts of Ava, it was still happy though. Our babies were finally here.

They were healthy so far, so much better than what we expected. We both had thoughts that Ava would come out needing all sorts of medical intervention due to her heart defect. That was not the case at all. She was doing wonderful! Mike was so caught up in staring at Ian that he didn’t have time to react to them putting Ava right in the crook of his other arm. Thanks to a wonderful NICU respiratory therapist, we have the sweetest video of Mike holding both of his babies. He stated at one point that it finally just hit him that we had twins.

The RT took my phone from Mike and took a ton of pictures. He got Mike cutting the cords on video. He got the first few moments of my babies’ lives. I was and still am so grateful. I LOVE pictures and this meant the world to me. Mike was able to hold both babies, one at a time, to my face so I could meet them. Ian had SO much hair. Ugh they were the sweetest little things. I got to meet Ava, I got to see that yes her eyes were almond shaped, the tell tale sign of Down Syndrome. But I got to see that she was okay, she was healthy, she was beautiful.

She was my daughter.

This was the first moment that I started to relax a little, only a little, about her possibly having Down Syndrome. The babies then went to the nicu and I went to recovery. I wasn’t on any magnesium this time so I got to go to the nicu once I got feeling back in my legs.

Not 24 hours like with Evan, that was rough.

I felt pretty good, thanks to drugs! Mike rolled me into the room and there was Karen, my babies’ nicu nurse. We bonded right away over the fact that we both had Evans. I didn’t know then but she would be an angel to us. She has a big part in Ava’s story because she was one of the first who made me see that she would be treated like any other baby. She wouldn’t be defined by her diagnosis, even if we didn’t know for sure yet.

I got to hold them both together. One of the best moments of my life.

Ava is the smallest baby I’ve ever seen or held. She was an itty bitty peanut. The next day we met Dr. Challapudi, another person who made me see Ava wouldn’t be defined by Downs. Ava had an echo done and we now had confirmation she had an AVSD.

She drew her heart for us again and explained it all to us again. She told us she was going to need surgery eventually.

Open heart surgery. Wow.

Luckily we had time to process that. She wouldn’t need it until she was 4-5 months of age. They wanted her to get to 8lbs first. It was explained to us that she would eventually start to show symptoms similar to congestive heart failure because the blood would be mixing in her heart. So oxygenated blood and deoxygenated blood would be mixed together.

Ava would need lasix to keep the fluid off of her lungs. She may need oxygen. She did great the first few days. She ate well. She started showing symptoms of fluid on her lungs after a week old. Much earlier than we thought, but she was put on lasix and it helped a lot. She did end up needing oxygen. An NG tube was inserted when she started doing poorly on her feeds. Dr. Challapudi had explained to us that the only work a baby has to do is eatingm so we would see the signs of her heart defect through her eating. She would start to tire out, get sweaty, breath rapidly. It would be very obvious when it did happen.

I was thankful she started to show some of these symptoms in the hospital because I was scared to death it would happen once we brought her home and I wouldn’t be able to recognize the signs.

Finally, a week and a half after she was born we got the call. We went to the hospital every day almost all day to be with the babies. On this particular day we had come home in the afternoon to relax a little because we were so tired. The doctor for that week called me and just very matter of factly said the rapid genetic testing came back and it was confirmed she had Trisomy 21. He asked if I had any questions and at the time I didn’t know what to say so I said no and quickly got off the phone with him.

I was very thankful we weren’t at the hospital. I didn’t want to cry in front of all of those people, in front of Ava. I know she wouldn’t have known but babies can pick up on emotions. I’m so glad she didn’t have to pick up on me crying that my baby would never have a normal life. That she wasn’t the normal daughter I wanted.

Mike and I did a lot of talking, crying and reflecting. He was always, from before the time she was born, okay with it.

He said okay she has it, it’s going to be okay.

It took me a couple minutes to process but when it did, it hit hard. I questioned if I had done something wrong. If I caused her to have it. I knew nothing about Down Syndrome except that they looked different and usually ended up working at places like McDonald’s. I knew she would be disabled. I cried for Evan and Ian. That we would never be a normal family or do normal things. Our world would always be centered around Ava now and her disability.

I didn’t want the boys to feel pushed aside or that we didn’t give them attention. I had started to feel some moments where I thought my PPD was rearing its ugly head again. It hasn’t been as bad as it was the first time so I thought I could power through it. After finding this diagnosis out and knowing we would have a huge surgery to eventually face, I talked with Mike and we decided it was best for me to ask my doctor for medicine again. I had twins I had to take care of. I had 3 kids now and a husband that I needed to be strong for. It was an easy decision.

Those first few weeks were filled with a lot of information. Different programs we could apply for Ava. Different support groups we could look into. We were encouraged to find families with children with Down Syndrome so that we would have support from others who knew what we were going through.

Before the Trisomy 21 diagnosis but after the AV Canal Defect diagnosis I had searched on Facebook for a support group for this specific heart defect. I found one right away. I was so thankful. A woman named Marissa emailed me and introduced herself and her son, Jax, a boy with Downs who had the same surgery Ava would have. Her words have stuck with me these past 5 months. I wish I had met her the day Ava was born. Her words brought me so much comfort. One thing she said that really, really sticks with me. She said, “So congratulations on your daughter, on her diagnosis and your beautiful new family you never knew you wanted.”

I cried and cried. This made me start to see all of this in a whole new light.

She connected me to several support groups of families of children with Down Sydrome. I have made forever friends with fellow moms I’ve never even met. I’ve found women and groups here in Cleveland where we live. I remember thinking wow you mean I’m not alone in all of this?!

My heart slowly was starting to soften after hearing what she said. This diagnosis was not a burden. Ava wasn’t going to be pushed aside bc she was different.

Ava wasn’t going to be anything less than amazing. I started to look at her more deeply. I saw less of the “Downs look” and more of her. Those tell tale almond eyes, they became one of my favorite things about her. I started to really see how beautiful she was, inside and out. She radiates this beauty that I’ll never be able to put into words.

She spent the first 41 days of her life in the nicu. She became very popular among the staff there. I would come in and hear how they would all be in her room holding her, oohing and ahhing over her. I saw that not one of them treated her or looked at her any differently. She had a few setbacks, but overcame them all. We thought for sure she was going to come home on oxygen but she proved us all wrong there.

On November 15 she finally was able to come home with us. Her brother Ian was discharged after only two weeks. Looking back it was nice being able to make a slow transition from 1 to 3. I’m glad her heart was able to be closely monitored for a while longer.

We have followed up with cardiology biweekly. The girls at the office are always super excited when we come. They all can’t wait to see Ava. Boy does that make my heart so happy. We’ve stayed in touch with our two favorite nicu nurses. I see them being in our lives for forever. I couldn’t have done it without them. Mike had to eventually go back to work so he could save his time for when they were both home so I was at the hospital with Ian by myself a lot.

Karen and Alyssa always made my day so much better.  They got excited right along with me when Ava made it to another milestone. They treated us like family. All of the nurses, therapists, Drs and nurse practitioners Ava came into contact with never ever treated her differently. I can’t say this enough because it made me sooo grateful.

It was one of my biggest fears when we got her diagnosis. That it would define her and people would only see that she had Downs, they wouldn’t see how amazing she is.

It takes very special people to work with these small, fragile babies. They deserve so much more credit than what they get. They not only take great care of your child but they take great care of their parents as well. Ava has done amazing at home. Growing bigger and getting stronger. She’s very loved by her big brother and even Ian seems to have a very tender heart towards her.

The twins are starting to notice each other more now, they love to just stare at each other. I feel deep down Ian knows there’s something different about her. While we were in the nicu one of the nurse practitioners told me it’s awesome that Ava is a twin because Ian will really help her developmentally along. I truly feel that it’s no coincidence they are twins.

God placed them in my womb together for a reason. Ian will always be there along side his sister to watch over her and protect her

I know Evan will do this also. This is God’s way of taking some worry off of me. Ava will always have her big brothers.

I can already see, after only 5 months, how much closer our family is because of her. If only I could go back in time, back to that scared mommy on the OR table. If only I could tell her that her worries would only be for a short time. That this beautiful little soul would change her in ways she never knew. I would tell her that yes it’s going to be rough for a while but just wait until she starts to smile at you. Her smile, ugh, one of the most beautiful things I’ve ever seen. Her whole face smiles, her eyes light up. It’s breathtakingly beautiful.

I would tell her that yes it’s going to be rough and exhausting for a while. Multiple dr, therapy and specialist appointments but you’ll do it all without complaint because you’re head over heels for her. You want what’s best for her, you want to see her thrive and she will. To hear how amazed the physical therapist is with how strong Ava is and how well she’s progressing. The therapist has reminded me several times that Ava had a lot of factors stacked against her, she was premature, a twin and she has Down Syndrome. Ava is continuing to defy all of those odds. When you meet with a development specialist who says it’s awesome how well and how much Ava is speaking baby talk, that she’s actually ahead of most babies her age with Down syndrome. To finally watch her gaining weight and hitting her goal weight for surgery. All of this make hauling her and her brother to all of these appts worth it.

In two weeksAva will be admitted to the Cleveland Clinic for her open heart surgery to repair her little broken heart. Dr. Challapudi has told me that I need to prepare myself as best I can for this. That I need to be as strong as I can for Ava. I’m trying really really hard to do this. Looking at pictures of what these babies look like fresh out of surgery with tubes and wires everywhere. Touring the picu where she will be after. It’s a lot of mixed emotion. Dreading surgery and another hospital stay but excited to finally get her heart repaired and watch her make giant strides after.

I recently met a very sweet fellow DS mommy in one of my groups. Ava was originally scheduled to have her surgery a month ago but they held off due to her platelets being low. This mommy and I would have had our babies go through surgery at the same time had her labs been okay. So I kept in touch and read her updates after her sweet daughter’s surgery.

Unfortunately her daughter passed away. She had some pretty bad complications from her surgery. She was a beautiful baby, her name was Rebecca. I think about her and her mommy every single day. I can’t imagine the heartache she is going through.

These babies, they make us really strong moms. Able to endure a lot more than we ever thought we could. I’ve had many people tell me that God chooses very carefully the parents of a special needs child. The first few days after the babies were born I questioned myself a lot, if I could do this. I’m very proud to say, 5 months later, that not only am I doing it but I feel like I’m pretty good at it. I can clearly see now that she was made just for our family.

I’m not ashamed anymore of the feelings I had while pregnant and when she was born. I know now that I had to go through all of that emotion so that I could really appreciate her for who SHE is. So that I could look past the scary diagnosis and enjoy my new and different family.

Let me tell you, I like different. She is a blessing and so much more. I’ve gotten to the point now where I can’t imagine her without Down Syndrome because she wouldn’t be Ava. I will never let her diagnosis define her but I do want it to take her to places she wouldn’t have gone if she didn’t have it.

I can’t wait to see where she will take us, I’m already really enjoying the ride. She’s our ray of sunshine, our perfect, normal, beautiful, happy baby. She has completed our family. I now know, without any doubt, that I was always meant to be her momma.

God is good. This is to honor my daughter and to let other mommas out there know that it’s okay to be scared and mad but I promise you you’ll get to the rainbow. You have to let go of the family you had imagined and embrace the new one you’ve been given. It’s so much better than I ever could have dreamed of. ❤

UPDATE:  Little Ava has had her heart repaired and has continued to grow and thrive.  Mama is much relieved and anxious to continue the amazing journey she is now on with her 3 beautiful children.

Elizabeth and her family call Cleveland, Ohio home.