My name is Amber Scuderi and my daughter is Evalyn aka “Nuggie.” There is a vast majority of people who would see her diagnosis and think that her diagnosis alone disqualifies her for life. That her quality of life is limited and unworthy. Evalyn is living proof that you can still be given this diagnosis and live a joyful, happy, and fulfilling life.
What is Trisomy 18?
Evalyn has full Trisomy 18, she has an extra copy of her 18th chromosome on all of her cells. The other types are mosaic and partial, where only some or part of the cells are affected. Trisomy 18 is the second most common triplication of DNA. It is the cousin diagnosis to Down Syndrome which is Trisomy 21.
Our Story
When I found out I was pregnant with Evalyn a piece of me was devastated, I was not ready to have a third child yet. Little did I know the surprise that waited for us at delivery.
We did a very early home blood test to find out the gender so I could give my womb mate a name and grow a bond with him or her. The plan was to do a midwife birth like my other two daughters, at the same birthing center in the middle of nowhere! If anything were to go wrong during delivery there was always a plan in place to reach the local hospital. The intent was to make it 37 weeks pregnant and I could deliver at the birth center, any earlier I would have to deliver at a hospital.
I made it to 37 weeks and one day on December 31, 2021, when my water broke around seven in the morning. It was a consistent flow of amniotic fluid, I contacted my midwife and let her know I was confident I was in labor. She was in disbelief but said to head to the center when I was ready, I told my husband she would be here by 2 p.m. We made our way to the birth center and it was very important for us to have our older girls at the clinic. The clinic was designed like a home and as I labored in one of the back rooms, they were in the front living room playing and under the watch of my mother-in-law. This was my third child to deliver here and I felt things ramping up. I told my midwife to prepare the pool and what was a beautiful calming labor quickly turned into one of the hardest memories I have. As I was laboring, my Midwife went to check the position of our daughter and she had shifted out of the birth canal. My Midwife asked me to change birthing positions to see if it would help, they checked her heart rate and it immediately dropped to the 60s during a contraction and after it would stabilize. She asked me to stand and see what would happen with another contraction and the same thing happened. They decided to call 911 because something was not right. For whatever reason the ambulance that was normally parked less than 5 miles from the clinic was not at the station. The firefighters showed up first to make sure everything was okay, more than 20 minutes had passed and the ambulance finally showed up to the clinic. My husband was not allowed to be in the ambulance with me because of COVID-19 regulations, so my midwife steamrolled herself onto the ambulance! Thank God she did, the paramedic said he was glad she was there because he had no idea what to do and couldn’t get an IV in. Evalyn was being monitored by my midwife and on the way to the hospital her heart rate was no longer stabilizing during contractions, it was skyrocketing to the 180s-190s, and it was a good indication she was in severe distress. The words that haunt me to this day are, “If you do not tell the hospital to be ready to cut this baby out, this baby is going to die!” There was so much stress put on that phrase by my midwife to the paramedic, that he continued to tell her to just trust he knew how to do his job. When we arrived at the hospital all doors to the hospital were locked, and a security guard was leisurely walking up to open the door, once we were in the back, the nurse said, “I’m so sorry we had no idea you were coming.” They were planning to wheel me to surgery for a c-section but I felt Evalyn in the birth canal, as I was being wheeled back I said I was going to help her out of there. They said it was too late for a c-section and I had to deliver her naturally. I did, and then out came a scary amount of blood, a purple, blue, and lifeless tiny Evalyn at 2:14 p.m. The silence in that room is something I will never forget. I held my husband’s hand and we both just looked at each other. At one point I looked over at the incubator and saw them giving my baby girl chest compressions, then my husband remembers looking over his shoulder and seeing the defibrillator being used to revive her. After two long minutes of no heartbeat, the words, “We got her back, the heart is beating, slowly but beating,” gave us a moment of tiny relief. Evalyn would not breathe on her own, she was bagged for 20 minutes till the emergency NICU team arrived.
Immediately after the adrenaline wore off my body went into this weird uncontrollable shake, they wheeled me out of the room to collect my vitals and get me calm. In the recovery room, I found out I had a placental abruption during delivery, even then, I was able to walk out two and half hours after delivering Evalyn to follow her to the NICU.
When we arrived at the NICU our neonatologist was fantastic. He had me sit down and explain the suspicions of a genetic anomaly, either Trisomy 13 or Trisomy 18. They would run all the tests to see if she suffered any other damage to her organs from being without oxygen and try to understand what they could about her. Every medical professional under the sun poked and prodded her till one in the morning. SHE WAS EXHAUSTED. We all finally fell asleep around three thirty in the morning, only to be abruptly awoken to having to move NICU floors. We were told that she had a heart defect and if she were to code that floor was better equipped to resuscitate her. Not even 3 hours later we were told she would have to be handed over for a TEFistula repair. Tracheoesophageal Fistula repair is needed when the esophagus doesn’t connect to the stomach during delivery, without connecting the two, air would have nowhere to go and build up in her body. At five days old into her life, she was given her diagnosis of Full Trisomy 18.
We spent thirty-one days in NICU weaning her respiratory support down to the lowest tolerance she could handle. Which was two liters of high flow and a quarter of oxygen. We went home on hospice expecting her to pass away. She graduated from hospice when our local children’s hospital gave her a chance at life at four months old. They closed up a Large VSD, a small VSD, and a moderate ASD, she is left with residual VSDs in the muscle part of her heart that can not be touched, a bicuspid aortic valve, and a pulmonary hyperplastic valve. Thankfully her valves are not causing her any complications at this time. Evalyn does have swallow dysfunction, she received a g-tube placement when she was eight months old.
The first year of her life we spent about eight out of twelve months admitted to the hospital due to illness and procedures. In the second year of her life, we spent less time in the hospital, maybe a month total, but she did spend the vast majority of the year confined to home due to illnesses. She has bronchomalacia and tracheomalacia, In one of her lungs, the cartilage didn’t develop strong and sturdy, and because of her fistula, it created a weakness in her trachea, therefore colds and illnesses take a toll on her. We are officially into year three of her life and I’m optimistic we will spend more time living versus healing. Most of the first few years were one giant learning curve, learning what to advocate for and learning how to take care of her without needing to be in the hospital. It was a very challenging and isolating experience. I have never been afraid of the day Evalyn is called home to Heaven, I just don’t want to have to watch her suffer on this side of heaven. Her illnesses were so bad last year I just held her, cried, and asked God for mercy, I couldn’t stand to watch her suffer anymore. Sure we were home and doing fine and managing, but I lost her little feisty spirit and was met with so many months of a sad Evalyn. That season of life was one of the most challenging, probably more challenging than NICU life. We persevered and finally called for a care conference to troubleshoot different things to work better for her. I can confidently say we have not had any hospital admissions for 8 months! We used her airvo (high flow cannula support) for one week in October and this one major illness she just had.
We were told often to consider the burden Evalyn’s life would be on our older girls, our experience is nothing as they warned. They don’t care that she is different, they see beyond her inabilities and love and accept her for exactly who she is. Amelia and Eleanor find several ways to include her in all they do. If you ask them, they will tell you, we are not a family without her. If nothing else Evalyn’s life has been a front-row seat of Jesus at work, in her, and us. She has solidified our faith and brought so many biblical principles to life for us. All the cliche graphics people share on social media with a snippet of a verse mean so much more to us. Proverbs 139:14 suddenly was on full display in our life, what was meant to destroy us as a family has brought us the gospel and the promises of the gospel in a beautiful way.
I have made it a point to not do anything to Evalyn unless it was a guarantee of the quality of her life. There is a slight addiction to understanding Evalyn and her make-up, there is peace for me in knowing things about her and finding a holistic way to deal with them first. If there is nothing we can’t manage from that approach then PRAISE THE LORD for modern medicine and doctors who have wisdom he blessed them with. We have over time become super selective of what specialists we seek out and try hard to just not be overwhelmed with physicians. Also, there may be a slight addiction to seeing our family at BEELIEVE. Evalyn truly thrives there! I ended up here because our friends Emma and Jenn both talked me into making the hike up there to have “The Three Amigos" under one roof receiving therapy! Evalyn has completed four total rounds of intensive therapy and it’s where I see the most progress from her. Intensive therapy helps us meet her goals but also been the point in her care where she can stick it to anyone who has doubts about her abilities! Nuggie works harder than any person I know, she has such joy and pride in herself when she can be a little more independent.
Emma was the first person I met in person with a living child with Trisomy 18. I credit her and Sage so much for helping me find my voice for Evalyn. Emma made herself available to me 24/7 when I had a question or concern. Over time we became friends, and eventually, the three of us (Emma, Jenn, and Myself) ended up in a texting thread talking about life and being our support system for daily life. The three of us have very different personalities, but we meshed well together and loved each other’s kids as our own. Emma invited us to join the board of Directors of the non-profit she and her husband created to serve families with Trisomy 13 and Trisomy 18. We each brought a unique experience to Extra to Love which has made it flourish well. We want to give hope to these families and speak life over their children versus the doom and gloom we are often told. We don’t want families to have to decide if they can even pursue interventions for their child due to cost, we want to support them financially so they can if they opt to. We offset costs associated with having to buy adaptive aids that insurance denied them, and provide adaptive toys to this community of children. We want to normalize and share everyone’s experience. We hope in time our Podcast will be a hub of resources with experts on the diagnosis, a place where people can HEAR the testimonies of other families, and understand the terms and other diagnoses their children have. There is something special about bringing the stories on social media to life.
I hope that people who continue to find us see that yes there are so many hard days, but the joyful good ones outweigh the bad. There is an army of people out there who are ready, willing, and able to help you find your voice for their child. It can be very overwhelming and hard and confusing BUT I PROMISE it gets better. Everything that you google or are told is rooted from old and outdated statistics. If you find yourself with a child with this diagnosis, the next time you see a mother with a child, hug her and thank her. We have entered a beautiful part in the world of their years of advocacy efforts being celebrated. There is a greater joy and acceptance for that population of children. What was a bleak life expectancy for them is now 60 years because Mothers are fighting for their child's right to life. The diagnosis of Trisomy 18, well the tides are slowly changing, the average life span now with a heart repair is sixteen years, SIXTEEN YEARS! Don’t let medical professionals put your child in a box of the diagnosis. All of our children present differently and have a very unique journey. There is support out there, get plugged in and connected! Be fearless and be bold, there is only one doctor who knows all and that's GOD!
If you know of anyone who is pregnant and just received the diagnosis of Trisomy 18 please feel free to connect them with me! I have a huge passion for connecting with families and connecting them to resources and other families. You can find us personally on Instagram at Nuggies.Adventures or on Facebook at Evalyn’s Everlasting Adventures with Trisomy 18.
If you know somebody who received the diagnosis of Trisomy 18 or Trisomy 13 please reach out to Extra to Love on Instagram and Facebook. You can also send them a Diagnosis Hope Box (it’s filled with incredible resources so they can feel equipped and empowered to advocate for their child) and apply for assistance at Extratolove.org! Any additional questions or concerns can be sent to info@extratolove.org