Trisomy 18 / Edwards' Syndrome

Hi, my name is T18Mommy. I'm here because I’m looking for additional support caring for my Trisomy 18 baby.

#MightyTogether

Fri May 30, 2014… Conception.

Mon June 23, 2014 – Thur June 26, 2014… No menstrual cycle. 9 days late.

Sun July 6, 2014… OTC pregnancy test positive. 5.5 weeks pregnant.

Wed July 9, 2014… Birthright of Topeka (512 SW 7th St, Topeka, Ks, 785-234-0701). Confirmed pregnant. 6 weeks pregnant.

Wed Aug 13, 2014… 1st OBGYN appointment for pregnancy (Lincoln Center Obstetrics & Gynocology, 800 SW Lincoln St, Topeka Ks, 66606, 785-233-5101, Dr Gleeson). 10 weeks pregnant.

Wed Aug 27, 2014… Sent to Maternal & Fetal Medicine for being over age 35 (Stormont-Vail Hospital, 1500 SW 10th St, Topeka Ks, 66606, 785-354-5952). 13 weeks pregnant.

The ultrasound showed a thickening on the base of the fetuses skull, indicating a possible Down syndrome diagnosis, or other chromosomal issue.

Wed Sept 17, 2014… An amniocentesis was performed. Positive results for Down syndrome were found. 16 weeks pregnant.

Wed Oct 8, 2014… Sex was determined to be female. 19 weeks pregnant.

Wed Oct 15, 2014… Felt her move for the 1st time. 20 weeks pregnant.

Wed Oct 22, 2014… Sent to Children’s Mercy Hospital in Kansas City for an echocardiogram (2401 Gillham Rd, KC Mo, 64108, 816-234-3209). 2 small holes were found in the heart. 1 hole was closed by birth. The other very small, no surgery would be needed. 21 weeks pregnant.

Wed Feb 18, 2015 @ 1600… Usual checkup & ultrasound at Maternal & Fetal Medicine. It was found that she wasn’t growing. Admitted in the hospital to be monitored overnight. C-section scheduled for 0800 the next morning. 38 weeks pregnant.

Thur Feb 19, 2015… 0828 my daughter was born. 3# 11ozs, 16 3/4″. Blessing Path Saiz was here. (Was due Mar 5, 2015). 38 weeks pregnant to the day.

Blessing spent 3.5 weeks in the NICU. She was fine on holding her temperature. Feeding & weight were not going as well. When she finally got to 5# she could come home. However, feeding wasn’t going as well. She was finally allowed to come home without her feeding tube after 3.5 weeks.

When I got the news about the thickening on the base of the skull, I was concerned but not overwhelmed. I was set up with one the counselors at Maternal & Fetal Medicine. She went over the 3 most common chromosomal issues & the 3 different tests I could take for confirmation of what was going on. Trisomy 21,18 or 13 are the most common. Down syndrome wasn’t scary to me, but Trisomy 18 & 13 were. I was told babies don’t normally survive long if they have either of those. I chose to have the amniocentesis. Even though it had the most risk it was the most accurate. I found out at 13 weeks she was most definitely Down syndrome. Not only was I extremely happy she wasn’t Trisomy 18 or 21, and could have a long happy fulfilling life, she was more than likely not going to suffer from depression (as I have my entire life). I have always heard how happy Down syndrome people are, so I was ecstatic to learn that she had the extra chromosome.

As far as people in our lives before birth. We had 2 different OBGYN doctors, 2 midwives, 2 ultrasound techs (Mat/Fet Med), 2 doctors (Mat/Fet Med), and 2 counselors (Mat/Fet Med).

After birth. 2 home nurses, 1 childhood development therapist for disabilities, 1 occupational therapist, and 1 speech therapist.

Now, she is on her 3rd & last year of preschool. 1 teacher, 3 paras, 1 OT, 1 ST. Can’t wait for kindergarten!

We love being apart of “The Lucky Few”!!

It all started with a parking spot. A parking spot on the second floor of the parking garage at MUSC Children’s Hospital in South Carolina. It was exactly a year ago today, March 12th 2017 that my husband and I parked in that exact parking spot at 0400(am) and quietly walked to labor and delivery with my swollen belly leading the way. We were very subdued. There was no diaper bag, no car seat…only a single preemie sized outfit. At home, there was no nursery covered in all the pink things. No dresser filled with pretty pink dresses. No blankets, bottles or binkies.

We had lived the last 9 months mourning the life our daughter would likely never have. Instead of planning for our future we were begging God for minutes. Enough to look her in her eyes and tell her how loved and just how wanted she was…how perfect she was to us. You see, she was diagnosed with Trisomy 18, also known as Trisomy 18 early on in our rainbow pregnancy. Trisomy 18 is the second most common trisomy, behind Trisomy 21, #DownSyndrome. However, Trisomy 18 is considered by and large, as “incompatible with life”. A condition that Google makes sound like a monstrosity.

We had our ducks in a row. Funeral arrangements made, a birth photographer on standby, and a special outfit picked out. But we also went in, armed to the teeth with research, first hand stories from other families and a list of interventions we knew she would need to survive. But the first step was getting her out alive, and that part, was up to her. We had the rare fortune of being at a “Trisomy friendly” hospital with doctors willing to perform an emergency C-section if need be. Neonatologists willing to give her life saving interventions. A cardiac team willing to perform heart repair if she survived long enough. But it was all in her hands.

Her name is Harper Grace and the entire pregnancy she did phenomenal. She was very active and the only “marker” she showed was her VSD, a hole between the lower two chambers of her heart, while in utero. We had hope that she might do well if she could survive birth. So, on March 12th2017 my husband and I parked in that very specific parking spot and walked hand in hand up to labor and delivery.

Harper Grace would hold strong through my induction for nearly 40 hours. She was stubborn and was not ready to leave her mommas belly. On March 14th , it was very suddenly decided that her heart was not happy with the events taking place and she was born via emergency C-section at 2356, weighing 4lbs 7oz and 17 inches long. As it turns out, Harper Grace, more affectionately known as Bean, was born a fighter. Once she was stabilized and moved to the NICU she did really well, all things considered. Our NICU team was supportive and listened. Our palliative care team advocated for hope and helped express our wishes for Harper Grace and her care. And we made lifelong friends with her medical team, who would become family.

But the journey was by no means easy. While in the NICU step-down unit at 2-3 months of age she contracted parainfluenza virus type 3. Up to that point she had been fairly stable. But everything changed….her world turned upside down with that virus. Her team, and her daddy and I were all terrified it was going to be the end of her. By the grace of God she pulled through but it changed everything about her plan of care and how she was progressing. In my heart of hearts I truly believe that her paraflu battle is what sent her into early heart failure. She was never able to come off oxygen after that and the signs and symptoms of heart failure started to show their ugly faces. A growing oxygen need, excessive weight gain through fluid retention, sweating episodes, sleepiness and lethargy. Heart repair was obviously needed and our palliative care team got the ball rolling.

On July 4th we were transferred out of the NICU and to the PCICU (pediatric cardiac ICU) and started the journey toward heart repair. Our team made it clear that while they thought it would be successful, that she would have a rough time post op with pressure changes. As ready as we thought we were… there is nothing to fully prepare you for what we went through with her. While she pulled through surgery perfectly, less than 6 hours post op, her blood pressure crashed and she coded right in front of us.

Everytime I try to remember what it was like, I get this very strange feeling in the pit of my stomach. I see the same tunneled vision view of our off going cardiologist attending telling the oncoming attending Harper’s history when all of a sudden her alarms started to scream. I see a man I’ve never laid eyes start crushing Harper’s tiny freshly sawed open chest as he provides CPR. I see the nurse manager drawing up 1, then 2, and finally 3 “code doses of EPI”. I hear the doors to the ICU slam open as the pharmacy team runs in. I see a resident running over with the crash cart. I see the pads attached to her and I hear them “clear” her for defibrillation. Within what was probably seconds 20 people materialize out of thin air to help assist saving my baby girl. A chaplain who we had never met before tries to come up and comfort us and distract us from the fact that Harper was essentially dying. That’s one thing that stands out the most. We are creatures of habit and we were and still are very fond of our chaplains within our Palliative care team, so to have a stranger try to comfort you in a way only our beloved team could, still makes me cringe. The woman did nothing wrong but it was the most awful feeling ever. She didn’t belong there. What did she know that I didn’t?

The whole thing lasted maybe 10-15 minutes but it felt like hours. My vision was blurry around the edges. Other than the few things I described, I couldn’t hear anything else except for a very loud buzzing. My face was tingly. Even as I write this, it still tingles, and I’m genuinely queasy. I have legitimate PTSD and #Anxiety from that event alone. Never mind all the other events of her life.

Harper Grace pulled through that event, but continued to have a very rough couple of days. She ended up coding in front of me again a few days later. Her daddy had to go to work for no more than an hour or two and I was by myself that time. It was harder than the first time without him being there. And her second incident is the one I have nightmares about. Again, CPR was preformed, and again, all kinds of superhero’s in white coats and blue scrubs saved the day. And I can’t be certain, but I’m pretty sure there was an actual angel by my side. A beautiful woman with the sweetest smelling dreadlocks held me and comforted me in a way that only a mother knows how. She prayed with me and held me while the crash team saved Harper yet again. Our amazing Palliative team came to be with us both times, and provided us the most hope. Assuring us it wasn’t Harper’s time, and promising to be with us if that time ever did come.

Harper’s entire hospital journey lasted a total of 162 days…23 weeks…5 ½ months. I wasn’t counting or anything. It included 2 surgeries, one of those being heart repair. A nasty virus and a NEC scare. But true to her spunk, she defied the odds, coming home from the hospital on August 23rd.

We’ve had so many ups, and a couple of downs. But we celebrate the good days. Decorating her nursery, going to bed with her under our roof, dressing her up as a peacock for Halloween. Taking her to see Santa, reading her stories, pushing her to be better each day in her many therapies. She’s been featured several times in various formats for Beads of Courage. Life with her this last year has changed me forever. She’s made me realize things about myself, I never knew existed. Because of her, I’m walking away from an 11 year military career to go to nursing school. Because of her, I’m going to help other children like her and families like ours.

She’s also brought many new friends into my life. The Trisomy families I’ve met on this journey have become some of the most important people in my life. These mommas, their kiddos and their husbands inspire me. We feed off of each other daily, providing new knowledge to each other, encouraging each other, supporting each other. We are part of a tribe none of us would have chosen, but it’s a club that has made surviving this last year possible. And for that, I’ll always be grateful to my daughter.

Today is March 12th 2018, and I’m parked in the same parking spot this evening as I was this exact day last year. Harper Grace is currently in the PICU from rhinovirus, the common cold. As I sit and reflect on our journey over the last year, and realize that in 2 days she will be a year old, I’m moved to tears. Everything she has been through. Everything our family has been through…sure it’s been hard, but it has been amazingly beautiful. The hardest most beautiful journey I could ever have taken. And while I’m sad we will spend her first birthday in the hospital, I know that we will bust outa here in a few days and celebrate even harder. I know that there is a life ahead of us WITH her, and that we will pull out of that parking spot. I no longer fear what lies ahead. We will leave that parking spot stronger, and ready to take on the next adventure as we live our amazingly beautiful life with our beautiful Harper Grace, who just happens to have Trisomy 18.

“’Trisomy 18.’ ‘Incompatible with life.’ ‘Why would anyone want a baby like that?’

I think back to the day those words shook my pregnant body to the core and crushed the deepest parts of my soul. I quickly went to Google searching for hope. Instead, I found none. I closed my web browser feeling worse than when I opened it. I didn’t understand how the baby so full of life within me could be THAT sick. I didn’t understand how she was so beautiful in her ultrasounds, yet the doctors would only tell me about how ‘scary’ she would look.

At 27 weeks gestation we went in for an elective 3D ultrasound. I was so excited to see Lillian’s chubby cheeks and her sweet face, after all, this was going to be the very first time we got to see her in 3D. All of her prior ultrasounds deemed her perfectly healthy, so we had no worries, right? I remember my biggest fear being that the last ultrasound would be wrong and that we would find out she was actually a boy. I had desired a daughter since I was a little girl. I already had a perfectly healthy little boy, despite being born at 33 weeks gestation, and now I was getting my little girl. What a perfect family!

Our ultrasound technician kept looking at Lillian’s heart. I knew something was wrong. Fear fell over me like a giant black drape. My brain started getting foggy and my heart was racing. “Jeanette, what’s wrong?” I said. “Well, I’m just seeing some things. I’m going to run a diagnostic and send it over to your midwife. I see some things with the baby’s heart and stomach. I’m concerned she may have #DownSyndrome.” I honestly don’t remember much after that. I was hysterical. One of my biggest fears is losing a child. We went home that day and got a call from my midwife telling me that she wanted me to go to a specialist for a level II ultrasound the next day. The urgency had me very concerned. I had been reading up on Trisomy 21, trying to learn everything I could about Lillian’s possible condition. We went to see the specialist, and after a very long ultrasound, she rattled of a bunch of things they found wrong with my baby girl. “So, you think she has Down Syndrome?” “Oh, you’ll be lucky if it’s that. I’m thinking more along the lines of Trisomy 18 or 13.” I can’t even describe the feeling that I felt. It was just an indescribable emptiness surrounded by fear. And then anger. How could God allow me to think my baby girl was healthy and then take her away? How could He do that to me? It’s hard for me to even type that, let alone think back to when those emotions and thoughts were so raw and real.

Over the next few months, I went through the waves of emotion. Denial, fear, anger, hope. My husband and I found a hospital that would be willing to treat Lillian after birth. We moved 2 hours from home to be closer to the hospital while juggling a high risk pregnancy, appointments, a lively 2 year old son, and the waves. It was hard. Life was so hard in those moments. My prayers changed as we went through the motions. “Please, let her be healthy.” “Even if she’s not healthy, let it just be a heart defect and not Trisomy 18.” “God, just let me hear her cry.” We did our best to survive those day. And then I blinked and it was delivery day! We hoped to have another all natural birth like we did with our son, but knew a c-section was very possible due to Lillian’s fragile state. My doula and husband were there supporting me through an epidural free labor. We had the lights dimmed, music, it was peaceful. I remember the nurses being amazed by the environment we had created. The day was long and the emotions were strong but I tried so hard to be happy and excited to meet my girl. I had faith that she would be born alive and do amazing things.

At 12:58 am on August 3, a baby girl was born silently into the world. She was rushed over to a stabilization area and bagged. I remember the room being so quiet that you could hear a pin needle drop. We were all waiting. And then, she cried! It was music to all of our ears! You know those movie scenes were life is almost paused, and then something happens and it just gets loud and busy again? That’s what happened that day. They swaddled my 4lb baby girl, and brought her to me. I was in awe of how beautiful she was. I remember just being totally amazed by her. Her weight on my chest melted all of the fear away and I knew she was going to live.

When I was pregnant with her, my view of Trisomy 18 was so different than it is now.

Now, my view of Trisomy 18 is this gorgeous TODDLER. It’s her long auburn hair. It’s her blue eyes. Her perfect little hands and her crooked pointer fingers that reach up and touch my face. It’s her button nose that scoops up on the end and has the most perfect curve to kiss. It’s the curls that fall at the end of her hair. Trisomy 18 to me is night time snuggles, telling her I love her a million times every day, making sure I give her a lifetime of kisses, and showing the world how perfect she really is.

When people think of Trisomy 18, I want them to think of this picture. I want them to think of Lillian. I want them to see how beautiful Trisomy 18 is. I want them to look past that label and see children like my daughter for who they really are—perfect.

Lillian is a sassy, strong warrior that has overcome more in 2 years than most people do in 90. She still has daily struggles, and health complications but we take life one day at a time and do our best to live it to the fullest. I spent the majority of Lillian’s first year in constant fear of her death. Around the time of her first birthday, I realized that we are all going to die. Lillian has surpassed her life expectancy 10 gold, why was I so afraid? Tragedy could strike at any moment for any of us. And in those moments, I chose to live. I chose life for Lillian, again. I chose life for my family. We still go out and have dinner or shop. It’s not every week, but it’s as often as possible. We make the most of our situation. We laugh through hospital admissions. We sing through the storm. And we love more fiercely than we ever have. All because of one extra chromosome.

**If you are interested in learning more about Trisomy 18 or following Lillian’s journey, please check out her Facebook Page here https://www.facebook.com/trisomy18princess

As reported first by lovewhatmatters.com

Written by: Alivia Kraft