Jeff and I named our little guy Joel shortly after learning of his anomalies, and we and the children have been calling him by his name here at home for quite a while.  It’s a short name derived from a short book of the Bible for what we anticipate will be a short earthly life, yet the meaning of the name and the message of the book from which it is taken are both powerful.

One of Jeff’s long-standing favorite Bible verses is Joel 2:25:  “”I will repay you for the years the locusts have eaten– the great locust and the young locust, the other locusts and the locust swarm — my great army that I sent among you.”  This promise was spoken by God to His chosen people, Israel, but the principle has been such a wonderful reality in Jeff’s life and the lives of many other believers.

In a similar way, we are also trusting God to bring good from what, to many, may appear to be a ‘wasted’ pregnancy.  He is a God who redeems all situations and experiences for HIS glory, and we are asking Him boldly to do that in some very specific ways, and ultimately, as HE wishes!

Joel means “YAHWEH is God,” and with this name for our T-13 baby, we proclaim our complete faith and trust in the GOD who forms and sustains all life.  Though “defects” and “abnormalities” occur in our sin-cursed world, we know that these are not a part of God’s original, perfect design.  We also know that T-13 has been allowed to become part of our journey by His will and that He has plans to use it to conform us to His image AND bring glory to Himself!

Daniel means “God is my judge.”  Both Joel and Daniel are prophetic books, and as we sense that our Lord’s return is very near, we’ve been turning to them more often in our hearts and minds.  We know that God is soon going to judge the entire world, and he is using this experience to draw us closer to Himself in humility, seeking His perfect judgment and mercy.  More about that, hopefully, in a future post.

So, at our ages (I am 40, Jeff is 41), what were our chances of having a baby with Trisomy 13?  According to our genetic counselors:  2.5 – 3.0 %.  And the chances of having a baby in the future with Trisomy 13 since we’ve already had one is double the original risk:  5 – 6 %.

For weeks, I’ve been writing a future post in my head entitled “Fertility and Fear,” in which I plan to address how we view statistics like these in our own family planning decisions and how our views have (or haven’t) changed as a result of this experience.  If I ever get it written, it’s going to be epic, as our big kids would say.  😉

I was very interested to know how many other expectant mothers in the Wellspan network are also currently carrying babies with a known trisomy to term and what the termination rate is for such babies in our area.  I was rather surprised to learn that I am the ONLY mom carrying a baby with Trisomy 13 that they know of, and they typically see 3-5 T-13 babies per year.  (There are a few moms with babies suspected of having a trisomy who haven’t yet undergone testing.)  There is ONE other mom carrying a baby with T-18, and there are 4-5 carrying babies with T-21 (Down Syndrome).  So much for joining a “Trisomy 13 Support Group!”  The abortion rate for our area upon diagnosis with a trisomy is about 50%, due to this being ‘rather conservative’ community.  In urban areas, this number is approximately 75-80%.

Here are some charts, links, and article excerpts that have been helpful in our study of T-13:

“Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year…

Everyone seemed to agree that our baby’s anomalies pointed most likely to Trisomy 18, though his particular ‘list’ of problems didn’t align exactly with ‘the list’ for either T-18 OR T-13.  To get an official diagnosis, we would need to pursue genetic testing, and there were two options.  The most effective way to get an accurate, truly diagnostic result was via amniocentsis.  The other option was a cell-free DNA test, which would be far less invasive but was not guaranteed to give a result and would not be officially diagnostic.  Our OB assured us that having an official diagnosis would not change her management of my care OR the baby’s care after birth, because we were able to monitor his condition via ultrasound and make decisions accordingly.

We procrastinated for several weeks on making this decision.  Jeff and I had opposite feelings about our ‘need to know.’  There was no conflict at all; he just simply didn’t feel the ‘need to know’ as strongly as I did.  What were the risks of amniocentesis?  How much would each option cost, and was ‘knowing’ just to ‘know’ worth that cost?

We finally decided to call Wellspan’s genetic counselors and get answers to our many questions.  They were very helpful and also relayed Dr. A’s concerns that not having a diagnosis could lead to potential conflict in the delivery room if our baby was born alive.  For legal and ethical reasons, various specialists might have differing opinions about what efforts should be made to sustain baby’s life until his diagnosis, and therefore long-term prognosis, was known.  With a strong desire to avoid this dilemma as our main objective, we quickly came to an agreement to start with the cfDNA test since it was least invasive and also less costly.  A few phone calls enabled us get the price reduced from $995 to $200, at which point the decision was even easier.

We posted on Facebook as follows:

Baby update, since many of you have been asking… We are at 5 months today. Our very, very little guy doesn’t even make it onto the growth charts, and he can’t flip or turn, but I can feel him moving his arms/legs each day now. This is a sweet reminder of his presence, and I am trying to enjoy/celebrate any normal moment I can. We are waiting on the results of genetic testing, which we pray will yield a diagnosis. We started with a cell-free DNA test in which a sample of my blood is being analyzed to find fragments of all the baby’s chromosomes. They will look for extra or missing copies. The genetics people at Wellspan are excited, because I’m the first expectant mom in our area to be able to use the newly available full-genome test. Previously, the test analyzed only for chromosomes 13, 18, 21, X, and Y.  Otherwise, I am feeling as normal as a homeschooling mom of five kids can feel, and we are simply waiting as we would in any other pregnancy for our baby’s arrival. My list of the many kindnesses shown to us by God through His people continues to grow longer each day. Thanks to all of you who are praying for us!

And then:

cfDNA testing was completed Saturday, and we received the news today that a clear result was found… an answer to prayer, for which we are thankful. Our baby has an extra copy of chromosome 13, not 18, as was suspected. The list of anomalies for each trisomy is similar, and our baby’s specific anomalies do not match either list fully. I plan to write more about our baby’s specific issues in the future, in a blog format, since some of you might not want this type of news in your FB newsfeed. But for now, we’ll share these facts: Trisomy 13 is more rare than 18 and the most rare of the viable chromosomal syndromes. It affects more boys than girls, and it is even more unlikely that our baby will be born alive. If born alive, typical survival length is 3 days. My main prayer is that this pregnancy and our baby’s short life will not have been in vain… that it not be wasted… and that God will use it for His glory and for eternal fruit for His Kingdom.

When the phone rang and I recognized the number of our genetic counselor, my heart did skip a beat.  Would the results be clear?  Which syndrome was afflicting our baby?  Hearing the verdict of “Trisomy 13” was not difficult at this point.  I was SO thankful and relieved to know that we would not have to consider amniocentesis or wait until after baby’s birth to know exactly what was wrong with him.  We already knew based on the ultrasound findings that his condition was dire, and we had mentally adjusted to that fact.  Based on the responses to our post, however, we realized that for almost everyone else, this diagnosis brought these realities home to many of our family and friends in a more ‘official’ kind of way.

Though the cfDNA test is not diagnostic in and of itself, we can accept the results as such when coupled with the finding of multiple anomalies on ultrasound.  It is still utterly amazing to me that someone, somewhere far away in a lab, was able to take one tiny vial of my blood, figure out which cells were my baby’s, and then view each individual chromosome to determine which one had an extra copy!  Truly astounding!

Having already read much about T-18, I began to read instead about T-13.

August 31 found me back at MFM, wondering whether our baby would be among the 73.7% of babies whose temporary renal blockages spontaneously resolve OR the 26.3% of babies whose enlarged bladders were an indication of greater issues.  The moment the tech set the scanning ‘wand’ on my abdomen and the baby’s image appeared on the screen, I instantly knew.  His or her bladder was many times bigger than it had been on the first scan.  It was overwhelmingly large, and I had read enough to know that at this size and gestational age, it was officially considered a ‘megacystitis’ and would not (apart from a miracle) resolve on its own.

I had prayed for very clear results at the second U/S, and God did answer that prayer.  I hadn’t asked for an amazing ultrasound tech, but the tech I had that day was beyond amazing.  She talked me through all she was seeing as she proceeded to study the rest of baby.  There was a significant problem with every other area she scanned:  baby’s heart was displaced in the chest, appeared to have only one ventricle, had calcifications, and appeared to be surrounded by fluid.  Baby’s growth was lagging in all areas, but this was especially notable in the femur and the brain.  Baby’s brain had ‘cysts,’ or abnormal fluid-filled areas.  His lungs also appeared to be surrounded by fluid.  The longer she scanned, the more obvious and overwhelming our baby’s issues became, but I felt brave and was holding it together nicely until I remembered that I would have tell our other children that we were probably not going to be able to bring this newest little sibling home from the hospital in February as we had expected.  Then the tears came quietly, and that amazing ultrasound tech cried with me.  Though she sees difficult U/S findings on a daily basis, she still had a genuine empathy for our baby, and me.  Her compassion was so remarkable and such a gift from God on that dark day.

A different perinatologist, Dr. ‘A,’ came in to review the ultrasound, and she asked matter-of-factly if I ‘would like to continue to pregnancy.’  She was especially concerned about the baby having multiple organs surrounded by fluid (multiple hydrops), and explained that I could develop ‘mirror syndrome,’ in which I might experience symptoms similar to baby’s, especially retention of fluids leading to pre-ecclampsia.  I briefly explained that our world-view includes understanding God as the author of life and that we therefore believe that He should also be the one to determine its end.  The tech scanned a bit more so the Dr. could view baby’s heart, and at this time she also discovered baby’s gender.  I was carrying the little brother the kids have been wanting for so very long.

I cried the whole way down 116, thankful to finally be alone.  Pouring out my heart to God, I surrendered anew our baby boy and this pregnancy to Him.  Jeff met me in a parking lot along the way, in between jobs, where I cried some more and we prayed together.  Then I went on to pick up our kids at my parents’ house and share the sad news with them.  The rest of the day was a blur, and I didn’t have much energy left to accomplish school or much of anything else, for that matter.  I just spent the day adjusting mentally to the news about our baby’s condition and answering 101 questions from the kids, helping them process it too.

A few days later, we updated friends and family on Facebook with this post:

An ultrasound on Monday revealed much to our family about the tiny life we’ve been anticipating, and we’ve been adjusting to a new understanding that God’s plan for this baby are different than we expected. Our precious baby boy has a yet-unnamed genetic/chromosomal syndrome resulting in serious anomalies affecting every major organ/system. The prognosis is ‘very poor,’ but the doctor cannot predict how long he might live… a few more weeks or possibly to full term. We are now at 16+ weeks, with our original due date of 2/14/16 re-instated. We’ve been overwhelmed by a deep and amazing peace from God that truly passes all understanding. We’ve seen His hand at work in the smallest details of this journey and give Him great praise because we know that it will all be ‘for our good and for His glory.’ Your prayers are obviously appreciated as we seek the grace we need to carry our sweet yet struggling little guy as long as God allows. 

The two main concerns noted by Dr. “B” on that first ultrasound were:  1.  increased nuchal translucency measurement, indicating an accumulation of fluid under the skin at the base of the baby’s neck, and 2. an enlarged bladder.  For at least 30 minutes he explained to us all that these initial findings COULD mean.  He talked about the possibilities for testing and the timeframes necessary for testing if we would want to consider terminating ‘the pregnancy.’  We quietly assured him that termination would not be an option for us, regardless of the baby’s condition.  Then he talked about ‘worse case scenarios:’ babies whose bladders became so enlarged their abdominal walls burst open and moms who were rushed into emergency deliveries because of pre-ecclampsia caused by carrying an unwell baby.  After a while, we felt like we were in a Charlie Brown special and his words all began to sound like ‘wah-wah-wah-wah-wah.’  If you need a refresher as to what that sounds like, you can listen here:  http://soundfxnow.com/sound-fx/charlie-brown-teacher-voice!  🙂  The kids were so well-behaved in the waiting room the whole time, and we headed home trying to answer their many questions – and looking for answers to our own!

Hours of research and reading on-line about babies with both increased nuchal transleucency and enlarged bladders, plus a follow-up phone consultation with Dr. B, led us to understand that there were three main possibilities to anticipate.  1.  The baby had a temporary renal obstruction that would resolve spontaneously and all would be well, 2. The baby had ‘only’ an obstruction issue, and we might need to make decisions about surgery for the baby prior to birth, or 3. The baby had a chromosomal abnormality that was causing the obstruction, which would most likely indicate trisomy 13 or 18.  The statistical chances of possibility one, based on clinical studies:  73.7% N, and of possibility three:  26.3%.  Obstructions resolve spontaneously in about 90% of chromosomally normal babies, so possibility two was our least concern.

On the 21st, I had my first appointment with an OB-GYN from Wellspan York.  I was quickly grateful for this new-to-me doctor.  She was very down-to-earth with an instantly-likeable bedside manner.  Having already read the U/S results, she said, “We’ll let you know when we’re worried, and we’re not worried yet.”  She told me several best-case-scenario stories based on her clinical experience which helped to balance out the worst-case-scenario stories we had heard earlier.  As the oldest of nine children, she also affirmed our decision to have a larger-than-normal family and also to have a baby at age 40.  I left feeling encouraged and hopeful that perhaps our baby would indeed be well.

The kids were eager to share the news with family and friends, and at 15 weeks with baby six, I knew that our news would soon be obvious enough whether we were ready to share it or not!  So we shared, deciding to celebrate this baby’s life in spite of the uncertainties.

Then we took our planned vacation to Bethany Beach and came home on a Sunday evening, anticipating our second ultrasound the next morning, which would hopefully – at 16 weeks – reveal more detailed information about our baby’s condition.

Our family was on the way home from a fun evening with friends at the ‘big wooden slide’ at Mount Tabor Park in Rocky Ridge, MD, when Jeff and I casually wondered aloud if the kids would like to skip school the next morning and go along instead to an ultrasound to see their new sibling.  Several of the children had been wondering for weeks when we might have another baby, and to say they were ecstatic at this news would be an understatement.  The screams in the car gave way to endless questions and happy chatter for the remainder of the trip home.

The next morning, August 17, Jeff was able to take a few hours off work to go along to the ultrasound.  There was much excitement as we saw our baby’s heartbeat and watched our little one kicking and squirming in black-and-white on the screen.

The ultrasound tech was very quiet; one of the least communicative we’ve ever had, so I quietly explained to the kids some of what we were seeing as she scanned.  There was a large dark spot in the baby’s abdomen, and I almost said, “There’s the baby’s stomach!” but I knew that I really wasn’t sure about that part, so I kept quiet.

Here’s a picture from that scan, without the ‘large dark spot:’                                        

Ultrasound over, Jeff took the kids to the waiting room, and the tech said she would get the perinatologist to come in and review the results with me.  We were at maternal-fetal medicine (MFM) for this scan, because I was 14 weeks; just slightly past the first trimester.  A former neighbor’s unexpected funeral had pushed our original ultrasound date from 12 weeks to 14, and the practice had told us that it was simply a matter of common procedure for all ultrasounds past 13 weeks to be scheduled at MFM.  The tech had asked me twice during the scan if I had had a previous scan and/or why they had sent me to MFM.  I reiterated that, no, we had not had any other scan, and that we were simply there because we were already in the second trimester.  When she told me the doctor would review my scan, I asked if this was routine procedure at MFM.  She then told me she had seen a few areas of concern and wanted him to take a look.  Red flags were now waving, and my mind was racing.  What were the concerns?  The possibilities were endless.  More red flags started flying when the tech brought Jeff back to the room, saying that the doctor wanted him to be there too.  It seemed like an eternity until the Dr. finished reviewing the U/S in his office and stepped through the door to talk to us.

Welcome to Joel’s Journey, where I will chronicle the life of the newest member of our family: Joel Daniel.  We are deeply grateful to God for entrusting us with his life and profoundly grateful for the amazing grace and tender mercies He has shown as we’ve unwittingly entered the world of Trisomy 13.  We’ve decided it will be most efficient and least emotionally taxing to put updates at a place where everyone who wants them can find them.  Those who desire details can come here, and we won’t have to repeat ourselves so often!  Those who don’t want specifics won’t have them in their newsfeeds on Facebook.  So, where else to start but at the beginning?

June 14, 2015 – a beautiful Sunday afternoon – found Jeff taking three kids to hike Devil’s Den and the surrounding areas of the Gettysburg battle fields while I stayed home with a napping toddler and not-feeling-well older kid.  I was looking forward to a peaceful, quiet afternoon and eager to confirm what I suspected – that baby number six was on the way!  As two pink lines quickly appeared on the pregnancy test, I was filled with overwhelming joy.  I had expected to feel overwhelming apprehension at the thought of adding more work and craziness to our already-crazy-busy household, but those fears all melted away and were replaced with complete excitement, hope, and trust in God’s plan for our family.  It was a most unique and sacred moment, unlike any I’ve experienced.

Jeff shared my happiness when he got home… me showing him a picture of the pregnancy test on my phone as we sat on the couch with kids bouncing all around us, and him giving me the upraised eyebrows that all parents know can speak volumes without a word.  It was completely unceremonious, yet stealthy, as even our keen-eared big kids didn’t have a clue that life-altering news being communicated right in front of them!

Then, with little fanfare, we settled in to wait out the first trimester, as we have done seven times before, knowing from the experience of having had two end-of-the-first-trimester miscarriages that a positive pregnancy test doesn’t guarantee we’ll be bringing a baby home from the hospital in nine months.  Our February 14 due date was still a long 8 months away, after all!

And a busy trimester it was.  A week later, Lydia turned two.  The next day, Jeff and a crew of guys started tearing the roof and attic off our rancher, followed by nine incredibly intense dawn-to-dark days of turning it into a Cape Cod.  People, noise, and dirt everywhere, every day.  Blueberry picking with cousins.  Sarah turning seven.  Then, Kids’ Camp for all of us but Jeff.  A few weeks later, VBS at two churches.  We also got a puppy who lived for only four days before succumbing to canine parvovirus.  Then, getting ready for a new school year, with trips to the pool and all manner of summer fun still on-going.

It was finally time to get established in a new OB-GYN practice so I could attempt a VBAC delivery for this baby at York Hospital.  I wasn’t eager for the switch to different doctors, and the new practice felt impersonal; the new protocols wearisome.  For the sixth time around, I was wishing to have a very routine and familiar experience, not something so new and different.  Little did I know then how new and different it was all going to be…