We were standing in a Kohl’s parking lot, on our way in for some after-Christmas shopping. We had just left the nearby Target, where we’d been searching for something to put our store-credit towards... the post-Holiday-ransacked section of baby girl clothes was a little bleak that day, so we decided to pass. We’d bought me a Starbucks hot chocolate on the way out. We’d spent the morning cleaning out our attic and taking a car-load of empty boxes to the recycle-center. We’d gone to the gym... we had plans with Brian’s sister and brother-in-law to see The Secret Life of Walter Mitty in just 2 short hours. And then my phone rang.
Unknown number... 704 area code... could mean a client? Could mean a wrong-number. But is wasn’t. It was someone named Angela, describing herself as a genetic counselor with Presbyterian Maternal-Fetal Medicine.
Let’s rewind, really quick, to the day we discovered we were pregnant. We tried for 5 months before successfully conceiving... not too shabby. We had given ourselves a window from February to May to try and get pregnant, thinking that we were giving ourselves plenty of time. We are wedding photographers, and so were aiming to plan a pregnancy around wedding-season, with a due-date landing in between crazy-wedding-times, after October 2013 and before April of 2014. When February, March, April and May had all come and gone, with only one solitary line to show for it on all of our home pregnancy-tests, we sat on the bed in our spare bedroom (the room that was to become a nursery), and re-evaluated. I had taken ovulation tests for about a year before we’d even started trying, in order to nail down a “calendar.” We’d done all the research... I’d googled “how to get pregnant” more times than I’d care to admit, but it seemed that the stress of putting parameters on our “trying window,” was cramping conception’s style (it likes to sneak up on you, we hear). We wanted a baby. And we had been tearfully praying for months that if it was not in God’s will for us to have a baby right now, that he’d take away the weight of our desire and replace it with patience. We decided that day that since the Lord had not changed our desires, that we needed to keep trying, and trust Him to work out the timing.
Fast forward about a month, and there they were: two lines staring us in the face on the home pregnancy-test! High-five... go team! All of 20 minutes later, we had a pregnancy app downloaded on both of our phones and were calculating our due-date (which landed nicely during the first week of March, with plenty of time to spare before our first 2014 wedding). 9:01am the following morning, we had a doctor’s appointment scheduled to confirm, and the rest is history!
We wish. Oh, how we wish... fast forward again to October 15th. We had tried to find out the gender of our baby twice by this time (stubborn little thing), and on our third but not-yet final gender-ultrasound, the tech noticed the baby’s umbilical cord had only one artery instead of the standard two. “It’s a very common variance,” the OB told us. “We will just want to monitor the baby’s growth more closely throughout the third trimester, as a precaution.” No sweat... (PS- 4 weeks later on November 12th, we finally got the official confirmation that we were having a girl)!
Fast forward again, to December 18th. The day after Baby Avonlea turned 28 weeks in-utero. We went in to see a perinatal doctor for our first ultrasound specifically for the purpose of “monitoring her growth,” due to the single-artery umbilical cord. The scan was an hour long... much longer than we expected thanks to our daughter refusing to position herself correctly for the doctor to see her heart (like I said- she's a stubborn one). When the doctor had finally seen what he needed, we were expecting the usual response that we were used to hearing from our OB: “Everything looks great! Baby’s healthy, you’re healthy, we’ll see you in a few weeks.” Instead: “There are some things I want to go over with you.”
“Go over...” That’s not too scary-sounding. Until he elaborated: he detected what looked like a hole in her heart, enlarged blood-vessels in her brain, and “echogenic” kidneys (kidneys that appear “too white” on the ultrasound). The doctor explained what we already knew about babies with single-artery cords: 75% are delivered perfectly healthy with no affects on their health. The other 25% experience heart, brain or kidney issues that are typically associated with a chromosomal abnormality, most commonly, Down Syndrome, Trisomy 18 or Trisomy 13.
Here's the thing, though: we’d had screenings done for chromosomal abnormalities back at 12 weeks gestation, and the results had lead us and our doctors to believe that Avonlea was perfectly healthy: we had tested negative for Fragile X, SMA and Cystic Febrosis. Our chances of having Down Synrome were 1 in 9,000 and 1 in 10,000 for Trisomy 18. Her brain was developing normally and so there were no red flags for Trisomy 13. So basically, we passed with flying colors. Up until this point neither we or our doctors had even allowed ourselves to think that there could be a chromosomal issue.
The perinatal doctor recommended I undergo amniocentesis, a procedure that involved sticking an 8-inch needle into the uterus through my abdomen to take a 30cc- sample of amniotic fluid to test for chromosomal abnormalities. They scared us. We agreed. Paperwork was pushed past me in a rush to sign through my tears. They laid me down on my back and Brian sat next to me to hold my hand. The procedure was horrible... eight inches of emotionally and physically searing pain, slicing through me towards my baby. While I wept and breathed hard through clenched teeth, Brian watched the doctor perform the amniocentesis and saw the needle on ultrasound, penetrating inches or less from where our daughter was squirming around.
We were assured the first round of results by Friday the 20th. The 3 most likely potential diagnoses were indeed Down Syndrome, Trisomy 18 or Trisomy 13, and the lab would test for those things first so they could give us an answer on those within a few days rather than the 7-10 days it took to test for the full range of potential issues. The perinatal doctor also set up an appointment for us with a pediatric cardiologist (Dr. Hammill) for Friday the 20th as well, to look at Avonlea’s heart more thoroughly. The ultrasound at the pediatric cardiologist lasted another whole hour... I actually fell asleep during the scan! Moments after Dr. Hammill had sat down with us to discuss the ultrasound images, my phone rang. It was an unknown 704 number, that we knew had to be our amnio results... Dr. Hammill allowed us to answer the phone- he sat back in his chair, awaiting our reaction. He knew that these results would help determine his own proceedings with us throughout the remainder of our meeting.
The lady’s voice on the other end of the phone identified herself as... someone... can’t remember her name... with Presbyterian Maternal-Fetal Medicine and she had good news for us! Negative... all tests for Down Syndrome, Trisomy 18 and Trisomy 13 were negative! The terror and weight that ascended off of our shoulders was enormous... If there was a way to permanently live in the emotional rest of that moment, I would never leave. Why can’t I have that feeling back....
Dr. Hammill softened at the news we relayed to him once we got off the phone... this news made his job much easier. He explained that there was actually no hole in her heart, but a few minor malformations that he was confident she would either grow out of by the time she was born, or could be fixed easily with surgery after birth. We left the pediatric cardiology office beaming, walking on air, scribbled diagram of our baby’s heart in hand and headlining for the car so we could call family with the wonderful news. No down syndrome... no trisomies... no hole in her heart... to describe what we were feeling at that moment as relief would be a gross understatement. We knew there were more tests to be performed for less serious conditions but we were so elated to have the three big, scary ones off the table that we hardly cared.
We attended a surprise birthday party that night. We had dinners with our families and baked for cookie exchanges over the weekend. The bliss of our encouraging news allowed us much precious time over Christmas with each other and with our loved ones. Avonlea received so many Christmas gifts, adorable clothes and sweet little baby necessities... we were in a coma of joy over her. We let our guard down... we basked in rays of hope. If only we'd known how fast it could all change…
But all of this leads us to December 27th, in the Kohl’s parking lot, on the phone with Angela. “Are you in a private location, Mrs. Powell?” ‘Cause that’s not alarming...
“Uhh, yes,” I lied. I motioned to Brian to get back in the car.
“Unfortunately the results are abnormal...” Ok? Define abnormal...
I don’t remember how she said it, I just remember “positive for Trisomy 13.” Nope, she’s wrong. We tested negative for that. I reminded her of this and she her explanation confirmed our absolute worst fears. When the doctor performed the amniocentesis, he had accidentally gotten some of my blood absorbed into the sample of fluid. When the lab performed that initial round of tests, they had accidentally been testing my chromosomes, not the baby’s. We’d been floating through the past week’s worth of relief on false hope... and the weight of this mistake barred down on us hard as Angela described what this meant for our baby. Trisomy 13 is a very serious and lethal chromosomal mutation. It affects the development of the brain, and various other internal functions of the body. Less than 20% of babies with Trisomy 13 ever make it home from the hospital, or even survive birth. The ones that do, rarely make it through to their first few months. Most are stillborn, or pass away from apnea within their first few hours or days of life.
Everything outside that car went completely blank. No. No no no. This isn’t happening. I looked at Brian through the tears forming in my eyes; he could hear Angela on the other end. I was holding his hand tighter than I’d known I was capable of. “I’m so sorry, Melissa. I know this is not at all what you expected, or wanted to hear,” she said. Ya think?
She told us we needed to start going to counseling, and that she could provide us with resources for us and our families to begin to prepare. Prepare for what, exactly?
All of my senses left me. “I think... we just need some time.” Get off the phone with me. Stop talking. Don’t you realize you’re my least favorite person on the face of this planet right now?
I don’t remember how the conversation ended. I just know that I failed to say goodbye to her. I attempted to, but my voice caught in my throat and the words just never came. I looked over at Brian. “She’s not going to live...” An immediate whirlwind ensued of tears, gasps for air and embrace. The stupid center console was pushing against my baby-bump while we both leaned over it, holding each other and sobbing.
“Let’s go home...”
The next 72 hours were the worst of our lives. We called our families... parents and siblings rushed over to our home to hear us try and feebly explain Trisomy 13 through our tears and confusion. Some immediately jumped to search-engines to find happy stories of rare survivor-babies. Others cried with us... still others sat in shock and asked lots of good questions. Friends and family were in and out of our home all weekend, bringing us meals and groceries. We barely slept, yet we were barely awake.
At that point, sleeping through the night became a distant memory and waking up became the hardest and most cruel task of the day. Still to this day, for a split-second after opening our eyes, we truly forget. Slowly, all of the pain re-enters the memory first as a recollection of a bad dream before it pieces itself back into reality. Our reality.
The Sunday following that horrible phone-call, we tried to get out of the house. We went to lunch with my family at a bakery and all seemed to be going well until the girl at the register smiled at me and said sweetly, “By the way, congratulations! How far along are you?”
I had to stifle the immediate flood of panic welling up in my throat just long enough to say, “Thank you... Seven months,” through a pretend smile before I could rush to the drink-machine where I completely lost it. This is going to happen a lot. She’s not gone yet, I’m still pregnant. Adorably pregnant... I’m going to have to pretend like everything’s ok just to spare the feelings of complete strangers for the next 2 months. How am I going to do this?
Later that night, we sat in the spare bedroom we’d been working on cleaning out just days earlier. The night before that dreaded phone call in the Kohl’s parking lot, we’d cleaned out the closet and filled it with little outfits on little baby hangers. We’d cleaned out all of the drawers in the dresser and organized all our daughter’s onezies and sleepers into different drawers according to their size. The full-size mattress and boxspring was leaning up against the wall in preparation to move it out of the room and into storage to make room for her crib. Samples of different paint-color options were brushed in small patches on one wall. I told Brian, “I’m not ready to grieve her yet...”
We agreed that night that this Trisomy 13 was not yet a death sentence. This baby is strong! Although the odds are against her, the statistics haven’t met her yet. And our God is big. He is bigger than this diagnosis, bigger than Trisomy 13, and more powerful than her prognosis. He can heal her. He can. He might choose not to, He is sovereign and no matter what the outcome, He orchestrated things to happen this way for His glory and for our good. But we have to have enough faith to at least give Him the opportunity. We prayed for a miracle. We begged the Lord for our daughter... for her life, for her salvation, for the chance to be her parents. For a life for her, with her. We prayed for our Avonlea in every way we knew how. Through our sobs we told Satan he would not win. In the name of Jesus, he would not take her, he would not take us, he would not take our marriage. We thought it was important that he know that...
Monday I awoke to phone-calls from our OB’s office, as well as Angela the genetic counselor who’d called us with the news. Our OB’s secretary made an appointment for us to see a perinatal doctor that afternoon, and a quick follow-up appointment with our OB immediately after. Angela gave us resources for organizations who could help us begin the grieving process and make funeral arrangements so that if Avonlea happens to live through birth, we can spend as much time with her as possible instead of worrying about making arrangements. How are we having this conversation right now? How is this actually happening to US? This is not real...
Our appointments with the perinatal doctor (Dr. Shaver) and our OB (Dr. Clarke) were somber, to say the least. We had so many questions:
Why did this happen? Why does our baby have Trisomy 13? The most likely scenario is that the egg that was fertilized at conception just happened to have 47 chromosomes instead of 46. That extra chromosome just happened to be an extra 13th chromosome- the egg had always had this extra chromosome, since before I was even born. There is always potential in Trisomy 13 cases of something called a Robertsonian translocation, which means that the additional chromosome partitions and fuses to another chromosome. This leads to more severe cases and can indicate that the Trisomy is somehow inherited from a genetic disposition of one of the baby’s parents. Thankfully, Avonlea’s case was not caused by a Robertsonian translocation.
Why are we just finding this out now? How did we not know? One of the most common ways Trisomy 13 is recognized is by early signs of brain defects detected via ultrasound or genetic screenings. Typically, Trisomy 13 is indicated by a brain that has failed to separate into two hemispheres, as well as enlarged vessels near the brain-stem. When we went in for genetic screenings at 12 weeks, Avonlea’s brain appeared to be developing normally- it had 2 hemispheres and no enlarged vessels, which indicated to the perinatal doctor who performed our screening that Trisomy 13 was not present. The enlarged vessels in her brain did not appear on any of our ultrasounds until 28 weeks! Another common attribute of fetuses with Trisomy 13 is severe facial disfigurement and physical deformity. Cleft palette/ lip, eyes fused together in the middle, eyes in the wrong location, single-nostrils, missing or extra digits, and clubbed hands/feet are all common symptoms. Many of these traits can be detected on ultrasound and, having poured over our 12-week ultrasound images from our genetic screenings, as well as our ultrasound images from our hour-long scan on Dec. 18th, Dr. Shaver said that Avonlea is not exhibiting any of these traits- she looks normal. Dr. Clarke also told us that she poured over all of our ultrasound images from before our Dec. 18th scan with the ultrasound technician and they still cannot find anything on any of the images that they missed that would’ve raised an eyebrow. There was nothing about her external-physical appearance to indicate any red-flags that would’ve alerted the doctors to a chromosomal abnormality.
Are we even able to have healthy children? Is there going to be an increased risk or guarantee of Trisomy 13 in all future pregnancies? Dr. Shaver explained that since this case of Trisomy 13 was not caused by a Robertsonian translocation, there’s no reason to assume that either of us have a genetic predisposition to having children with Trisomy 13. Trisomy 13 is present in 1 in 5,000 births (1 in 25,000 live-births), but having had a child with Trisomy 13, our risk goes up about 1% and any future pregnancies will require closer monitoring. We’ll be offered amniocentesis very early on in future pregnancies.
How is the Trisomy 13 diagnosis going to affect our approach to delivery and neo-natal care? Dr. Shaver explained that Trisomy 13 is such a severe chromosomal abnormality, that our expectations from this point forward should be that Avonlea will either die in the womb anytime between now and her due-date, or she will not survive labor. If her heartbeat stops before 40 weeks, we will have to induce labor. If she makes it to term and we go into labor naturally, the delivery staff will not monitor her vitals during labor. There is a tremendous chance that she will not be able to survive the stress of labor, and the doctor says it would be cruel to us and to the delivery staff to hear her suffering via the monitoring. If she passes away before she’s delivered, labor will be more difficult for me, as there will be no longer be any interaction between my body and hers. They will not perform a c-section, because it would not necessarily save the baby’s life, but would necessarily create more complications for me with future deliveries. If she happens to survive labor, we will be allowed as much time with her as possible before she’s taken to the NICU to be examined. It is likely that she will not be able to breathe on her own and/or will have trouble feeding. The hospital staff will do what they can to help her breathe and feed in order to make her comfortable, but will not resuscitate her if she starts to slip away, or allow any major surgeries to be performed on her because these procedures would only delay the inevitable and cause her more suffering in the meantime.
Should we still attend child-birthing classes? It’s up to us, but Dr. Clarke’s recommendation was that we cancel. It will probably not be healthy for us to watch all the other happy couples with healthy babies beaming with joy. She assured us that the delivery staff would be able to walk us through the process and tell us what to expect as we go during labor.
Well, that sucked. Trying to stay hopeful in the Lord in the face of all of that information is extremely difficult. The doctors aren’t even giving her a chance... A chance we are begging God for but they’re writing her off as if it’s not an option.
We are continuing to pray together daily, in her little almost-nursery, for God to show his power and authority over life through our baby. We are praying that he will heal Avonlea and use her to absolutely blow the minds of the medical community who is preparing for her death, and give them no other explanation other than “Jesus is Lord.” If He chooses to answer our prayers with “I know you want to keep her, but I have other plans for her, and for you through this,” we will praise Him for whatever time we have with her, even if it’s only time spent through kicks and sweet pushes back-and-forth through the womb, and we will find a way to surrender her to Him.
We hope that this blog-post answers plenty of questions for all of you who’ve expressed your love and concern for us over the last 5 days. We appreciate the support of our community more than you all know, more than we have the strength to express. We will attempt to keep posting updates as we are able here on this blog, so keep checking!
As far as our needs go, at this time all we want from anyone is a tremendous amount of prayer. We know that our situation is eventually going to affect our business as word gets out and we could use prayer as well for the understanding of our clients and for future clients to continue booking us instead of writing us off as people who have too much going on personally. We still need to work to support ourselves and have an amazing support-system of fellow-photographers in the Charlotte wedding industry who have committed to helping us with the events we have scheduled during the first couple of months following our due-date.
And of course, we ask that each of you stand with us in faith and join us in daily, deep, desperate prayer for Avonlea’s life and health. Please pray with us! Please, please pray. Pray for Avonlea, that the Lord would heal her, that He would save her, and that He would use her as a testament to His power and glory. Pray for Avonlea…
***PLEASE POST YOUR PRAYER(S) FOR AVONLEA IN THE COMMENTS BELOW.
WE APPRECIATE YOU AS YOU STAND WITH US IN FAITH***