The Story of Anthony and Trisomy 13

Shortly after marrying the love of my life, we found out we were pregnant with our first child in November, 2020.

Everything was so exciting and new, especially being pregnant for the first time in my life. The day I had a positive pregnancy test is when I began all of my research on how to not mess this up. How do I take care of myself while taking the best care of our unborn child?

I immediately cut out anything with caffeine, fish and lunch meats, I increased my water intake, I got prenatal vitamins — anything I could do to protect this precious baby of ours.

We had our first ultrasound appointment when we were about 10 weeks along. He was only a little bean with a quick flicker of a heartbeat. I never knew I could fall so deeply in love with only a heartbeat. It was truly magical.

We decided to keep quiet about our big news until close to the end of our first trimester because I learned that about 80% of miscarriages happen then, and that scared me. I didn’t want to get everyone excited and then have to break the tragic news if a miscarriage happened.

Little did we know at the time that our story would end tragically anyway.

Our diagnosis

At our second ultrasound, everything was looking ideal, so we decided to share our big news with our families at Christmas! We had finally finished our first trimester by then, so we thought we were in the clear and that it was going to be smooth sailing from there.

But a couple weeks after breaking the news, at our third ultrasound appointment, we were about 14 weeks along and it was time to measure the nuchal fold — the fold of skin at the back of the baby’s neck — which I understand is a normal part of your prenatal care.

Measuring the nuchal fold can show if there are any soft markers for chromosomal abnormalities possibly present. A normal or average measurement is usually around 3-3.5 mm, but Anthony was measuring around 3.7mm.

When this concern was established, my OB-GYN referred us to see a Maternal Fetal Medicine doctor (MFM) for a second look. They confirmed that his measurement were a little off.

I’m in my mid-30s and the chances of a chromosomal defect happening increases with each year that passes, so they advised me to get Noninvasive Prenatal Test (NIPT) just to rule anything out.

A NIPT is a test done with blood taken from the mother that analyzes small fragments of the baby’s DNA, which circulates through the mother’s body. This test will not only tell you the possible risks of genetic or chromosomal abnormalities, but also can reveal the sex of your baby, which can be exciting if you’d like to find out weeks before the anatomy scan.

The NIPT primarily looks for these chromosomal abnormalities:

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards’ Syndrome)
• Trisomy 13 (Patau Syndrome)

Before we decided to go through with further testing, the hospital offered us a genetic counselor to help us understand what chromosomal abnormalities are, why they happen and the obstacles that can occur with each one.

We decided to get the NIPT done and anxiously waited for the results.

Two weeks later, we received the phone call. Our sweet baby boy Anthony, our first-born, had a 1-in-2 chance for Trisomy 13.

The NIPT can only tell us the chances of something going on and sometimes can create false positives when not enough data retrieved from the blood sample, so our next and final step was to get an Amniocentesis done.

Amniocentesis is a procedure in which they extract amniotic fluid from around the baby by inserting a long, thin needle directly into the mother’s belly with ultrasound assistance.

This fluid contains the baby’s urine and can be tested more accurately for chromosomal abnormalities. It is more than 99% accurate, so this test would be the final answer that we had been waiting for.

After a few more weeks of waiting for the results, in the 19th week of pregnancy, we got our final answer: Our baby boy had Trisomy 13.

A second opinion

Trisomy 13, otherwise known as Patau Syndrome, is a genetic disorder in which the baby has an extra 13th chromosome.

Trisomy 13 is a rare occurrence, with fewer than 20,000 U.S. cases per year, and generally happens when the cells begin to divide abnormally in the reproduction stage.

Having extra chromosomes can cause physical abnormalities in any case, but specifically in Trisomy 13, it can cause brain structure problems, which can affect facial developments and cause close-set eyes, underdeveloped noses or nostrils and cleft lip or palates.

In more severe cases, it can cause congenital heart defects, kidney issues, difficulty breathing and more.

If babies diagnosed with Trisomy 13 make it full-term, most do not live more than a few days or weeks, and it is very rare for a baby born with Trisomy 13 to survive beyond the first year.

Saying we were “devastated” doesn’t feel like the appropriate word for how we felt that day. I don’t think there is a word to describe the hurt we felt. Finding out that your unborn child has anything wrong is terrifying, but finding out your child has a low chance of surviving is unbearable.

We trusted in our team of doctors, who graciously walked us through to this diagnosis, but we decided to get a second opinion at U-M to see if there was anything more we could do to help him. They are the best around our area and we thought if there was any possibility of getting help, they would be it.

They gave us our first 3-D ultrasound and we finally got to see our beautiful baby boy in all of his glory. We were so in love, but the longer they looked at him, the more problems they were able to see.

His Trisomy 13 caused him to have severe facial, brain, kidney and heart defects, which lead them to believe he would not be strong enough for the surgeries needed to correct any issues.

Even if he was strong enough for surgery, the problems that he had would not give him a good quality of life and he would constantly be having procedures done until the day he passed away, but we did not want that for him.

We were offered options to either terminate or continue with the pregnancy and we were extensively educated about both options. We went home that day and wept for our son because there was nothing we could do to save him.

Continuing the pregnancy

We decided to continue our journey with Anthony and wanted to soak up every moment we had left with him. We knew that instead of setting up his nursery, we would be putting all of the things we acquired for him into storage, and instead of planning his baby shower, we would be planning his funeral.

Being a first-time mom of a baby who won’t be able to come home made my pregnancy experience extremely bittersweet. I wanted to celebrate him and his existence with everyone we knew, but I knew that they would never have a chance to meet him. Instead, I would just tell them how proud I was of him for being so strong.

As my pregnancy continued, his heart rate was always normal, his movements were consistent and I was feeling great, physically. He felt strong and vibrant and it made me happy and hopeful.

I continued working as a hairstylist on my feet all day, and for the most part, I felt great for a few months, but with my belly getting bigger (by what felt like every second) my feet started to swell pretty bad.

I was approaching my 8th month when I could no longer fit into any of my shoes and I couldn’t feel my hands anymore from pregnancy carpal tunnel, which I didn’t know was a thing until I became pregnant myself, so I decided to call it quits and stay home until Anthony was ready to come in 10 weeks.

Little did we know what was about to happen next.

Anthony’s birth

About two weeks after taking my maternity leave, the swelling in my feet was only getting worse. They looked like surgical gloves that had been blown up and were about to burst, so I stayed on the couch with my feet elevated as much as I could, thinking it was just “swollen pregnancy feet.”

One morning, I woke up with severe neck pain. I thought I just slept on it wrong and maybe pinched a nerve, so I tried slowly stretching it out. I also used a heating pad and put on some IcyHot — whatever I could think of to relieve the pain.

For two days, the pain was relentless. I couldn’t sleep for more than 20 minutes at a time,  I couldn’t move without my husband helping me adjust and I just broke down and started crying because I just wanted to sleep.

So, at 10 p.m. on Saturday May 22^, 2021, I asked my husband to take me to the hospital, the same hospital my doctor delivers out of, thinking they could give me some sort of pain relief.

When we got there, they did the normal routine (blood work, urine sample, etc.) and while we patiently waited for the results, my husband and I finally felt like relief was on the way.

When the doctor came back, she sat next to me and told us the news: “You have severe preeclampsia and we need to deliver.”

I immediately responded with: “I can’t, it’s too soon! He still has 8 more weeks and he’s doing good in there,” but that didn’t matter — both of our lives were in danger.

They immediately put us into a delivery room, and started the induction process while also trying to get my blood pressure down.

We were terrified and unprepared. We didn’t bring any of his things with us, or any of our things, for that matter. We went in thinking I was going to get pain relief, not deliver our son that day.

It all happened so fast, and with his diagnosis, we weren’t sure if he was going to survive the delivery. Not only was he going to be a premature baby, but a premature baby with Trisomy 13.

Almost 24 hours after we arrived at the hospital, at 10:29 p.m. on May 23, 2021, Anthony was born. He was 3-pounds, 8-ounces and 16 inches long.

They immediately put him on my chest and I instantly started to hold his hand and started rubbing his back, letting him know that “Mom is here with you.” He let out a small cry and my heart exploded. Our son was still alive! Our strong and sweet boy made it through a rough delivery, but we knew we didn’t have much time left.

We cleaned him up, wrapped him in blankets and held him close. For 5 hours we held him, telling him how much we love him and how we are so proud, but at 3:30 a.m. on May 24, 2021, he peacefully passed away.

If we didn’t have our doctors, nurses and counselors being so diligent with their work, and if we didn’t trust in the science involved to give us answers to help and support us through our journey, I do not think I would’ve made it through physically, mentally or emotionally.

They gave us a chance to truly enjoy every moment we had with him and prepared us for the inevitable goodbye. I want to thank everyone in the medical community who have worked so tirelessly to figure out answers not only on our case, but in so many cases just like ours. Their hard work gave us the knowledge and peace knowing that we did all we could to prepare for our precious son and to live each moment for him.

My son Anthony is the strongest person I’ve ever known. Even though he had many cards stacked against him, he still persevered. Our strong and sweet boy.

I am so proud of our son and his story, and I hope that our story can help any family facing the struggles of losing your child to chromosomal abnormalities.

You are not alone.

Autumn Wolff-Dukic is a metro Detroit hair stylist and mom of one. You can follow her on Instagram @awedeewolff.

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