Jeff and I tend to be minimalists when it comes to the expensive aspects of prenatal care like ultrasounds. “Only the ones absolutely required and necessary” has been our typical approach. So to have had FIVE ultrasounds for Joel has seemed excessive, yet we are attempting to be as compliant and cooperative as possible, appreciating that our doctors have a strong interest in monitoring how Joel’s health affects mine and also realizing that the knowledge they gain through scanning will help them feel confident about his birth plan. This time, it’s not just about us or about Joel but truly about cooperating with the team of people we trust to guide us through a relatively rare and uniquely individual situation.
Jeff and I went for ultrasound five on the last day of 2015, and it was brief and routine by comparison to U/S four. It was also our last scheduled U/S, unless there should be some obvious change necessitating another one. Otherwise, we will have one last brief scan just prior to birth to confirm Joel’s position and take final measurements to assist in last-minute birthing decisions.
There were a few new observations: Joel’s heart has a VSD (Ventricular Septal Defect), in addition to the ASD (Atrial Septal Defect), which had been noted previously. The technician also noticed that he most likely has a diaphragmatic hernia, which is allowing his lower organs to migrate into the chest cavity. That conversation went something like this:
“And here’s his lung…. (long pause)…. actually, I’m wondering if that’s his liver. It looks like he might have a diaphragmatic hernia, and that might be part of his liver. Did they mention a hernia to you during the last U/S?”
“No, but at this point, nothing will surprise us.”
“I’ll need to get Dr. B to come and confirm that.”
This tech was among the best we’ve had yet. I constantly marvel at how many wonderful, amazing people there are in the medical profession. Sure, we’ve met a handful of distinctly non-favorites, but the phenomenal ones far outnumber the others and have blessed us tremendously!
Dr. B did confirm the hernia. Neither this nor the VSD make any practical difference in the anticipated outcome or delivery considerations for Joel; they are just new tidbits of information to add to the overall picture of his condition.
In the “good news” category, Joel is now head-down and weighing in at an impressive 5 lb. 15 oz.! Dr. B believes that he will be able to be delivered vaginally if he remains in this position, and that he will not have to undergo a reduction of the fluid in his bladder to allow for birth. His head circumference (currently 8-9 cm) is proportionate to his abdominal circumference, allowing him to fit through the birth canal. Previously, Dr. B had suggested that if his abdomen was too large or too compromised for a successful birth, they would consider using a procedure similar to amniocentesis to draw the fluid out of his bladder just prior to delivery. As of now, that is not the case, which is truly good news for both of us.
We again spent time talking about our priorities and expectations for Joel’s birth and for comfort care for him afterwards, when/how the children will meet him, etc. We left this U/S and consultation feeling quite hopeful about the possibility of avoiding a C-section. We also feel confident that everyone is on the same page and in full agreement with Joel’s birth plan and very thankful that Dr. B will be the ultimate decision-maker for everything related to his arrival.
We’re excited to see God answering some of our prayers related to Joel’s birth and would appreciate your prayers for a successful, natural delivery. I am preparing mentally for every possibility, as I’ve said before, yet I remain hopeful that God will grant us this very strong desire of my heart.
Friends of my sister’s family, who unexpectedly lost a daughter shortly after birth and recently became aware of our situation, reached out to us and included this observation in their message: “It appears that you and your family are choosing to lean into God instead of pushing against Him. (Or you choose to write on the good days).” They were correct on both counts: We haven’t felt the need to push against God, and yes, I do tend to write on the good days. Since then, I’ve been thinking a lot about this. I write when I have time, which is rarely, and if I have time, it’s because it has been a good day. But I have had quite a few “bad days” lately, today being one of them, and I don’t want to neglect to share even the difficult times. My goal is to focus on God’s grace and all the blessings for which we are thankful, but I don’t want to give the impression that I/we don’t struggle – often – with many aspects of life in general and with this pregnancy and its anticipated outcome.
This year, I’m very thankful the holidays are over, mostly just because I’m eager to get back into a regular routine with the children and put all the excitement and extra sugar behind us! But it was hard to feel festive this year, and I needed to slip into ‘acting’ mode to get into the spirit of the season for the kids’ sake. I could have fast forwarded through every aspect of what our culture says “Christmas” needs to be and just gone on with daily life and not minded a bit.
Now we have six weeks until Joel’s due date, and I feel I can, at last, make final preparations, physically and mentally, for the next big event in our lives. While I’d like to keep him safe inside me indefinitely, the human mind also longs for closure, and toward this end I’m glad that time continues to move us forward, getting us ready to meet – and say goodbye to – our sweet little guy, whether we’re ready or not. My to-do list includes writing Joel’s birth plan, presenting a growing list of questions to the ‘Loving with Grace’ nurses, packing for the hospital, making special preparations to help all the big siblings through the time of his birth and passing, etc.
This past week has brought discouraging pain in my right calf from ‘insufficient superficial veins,’ (I despise the word varicose), pain that I’d be experiencing even with a healthy baby. It began rather suddenly, possibly when Joel migrated into a head-down position. Some days the pain is mild and on other days it is excruciating. This is simply one of the many costs of motherhood, one to expect to pay when you’re in the third trimester with baby six at age 40! I suspected this could be an issue during this pregnancy, and I should be thankful (and I am) it’s waited this long to start. I should be thankful (and I am) that it’s only affecting one leg. I should be thankful (and I am) that Jeff’s been home for Christmas vacation and that my mom has also been a tremendous help. I should be thankful (and I am) that I have amazing big-kid helpers who can do almost anything around the house. I should be thankful (and I am) that the ultrasound of my leg showed no blood clots. And I should be thankful (am I?!) for my first-ever, oh-so-fashionable pair of compression stockings, which seem to be offering some relief. I’m not complaining (am I?), but I do feel overwhelmed on ‘bad’ days at the thought of limping for 6 more weeks. Then I feel ashamed, because I know many people – even many of you – who live with chronic pain that has no end (like delivery) in sight! It’s one thing to be cheerful on good days, but to stay cheerful on days filled with pain? That’s a much greater challenge and a ‘test’ I’m not always passing.
Just as the angst of the teenage years make both the teen and the parents ready for the ‘leaving of the nest’ and as the aches and pains of the older years cause individuals to long more for the perfections of heaven, so the third trimester was designed specifically by God (as I like to think) to make a mother ready and willing to do whatever it takes (labor and delivery) to find relief from the discomforts of the last 12 weeks! I’ve reached “that point” a bit too soon this time around, I’m afraid… weary, and counting the remaining days a bit too often! But I knew this would be the case when we chose to welcome another baby to the family, so I’m aiming for the ‘patient endurance’ perspective and trying to stay positive and busy… hoping that these last 6 weeks pass as quickly as the first 34!
The hardest part of dealing with the aches and pains of the third trimester is the running dialogue with the little voice in the back of my head that in past pregnancies has said, “Heartburn? Feeling breathless? Restless feet? Vein pain? So tired? It’s all for a great cause! It will be worth it in the end! In just a few weeks, you’ll be snuggling your baby, and all of this will be just a memory.” Now, that voice tries to talk, but it quickly gets contradicted by the jeering reality that we won’t be bringing a baby home this time. Jeff reminds me that it’s still all for a great cause. Joel’s brief life is worth even the discomforts, and I do gladly make these sacrifices for him. But now that we’ve changed our calendars to 2016 and there are just 42 mostly-empty squares between now and “then,” the dread of not taking a car seat to the hospital and not bringing Joel home with us is starting to loom large, making it just a bit harder to push through the final miles of the marathon. Normally these six weeks would be a happy flurry of washing baby clothes (blues, grays, and greens this time!), setting up the pack-and-play, rearranging Caleb’s room to make room for the crib, stocking up on baby supplies, etc. Long ago, I put these tasks out of my mind, yet now that we’re on the home stretch, we’re becoming acutely aware that we’re not doing our well-rehearsed getting-ready-for-baby routine.
When you grow up in the Mennonite church singing acapella hymns in four-part harmony, these tend to be the songs that come to your heart and mind during difficult seasons, no many how many hundreds of other wonderful songs of all types you’ve learned in the meantime. I’m sure this is true for all of us; the familiar songs of our childhood become the ‘comfort foods’ our souls crave when they are hungry. Today, as I thought about the coming year and all it could hold – not just for us in anticipating Joel’s birth and death – but also for our nation politically in an election year, for our tumultuous world as the return of Christ draws nearer, and for the church, which seems to be sliding more and more toward compromise with weak and worldly thinking, this is the song that’s been on ‘repeat’ in the playlist of my mind: Mennonite Hymnal 434: God of Grace and God of Glory. I’ll leave you with the words and music, in case you, like me, are needing WISDOM and COURAGE for the facing of this hour… for the living of these days.
There are many versions of this song on YouTube, but I really wanted to post a version that sounds exactly like the one in my mind. Imagine my delight to quickly spot this acapella rendition being led by none other than Lloyd Kauffman! Lloyd was the director of the Rosedale Chorale in 1993-1994 and also the summer chorale tour to Europe in 1995, both of which I was privileged to be a part. He and his wife, Mary, will always have a special place in my heart, and I know this affection is shared by many of my RBI friends who will read this post. Enjoy.
God of grace and God of glory
On Thy people pour Thy power
Crown Thine ancient church’s story
Bring her bud to glorious flower
Grant us wisdom, grant us courage
For the facing of this hour
For the facing of this hour
The hosts of evil ’round us
Scorn Thy Christ, assail His ways
Fears and doubts who long have bound us
Free our hearts to faith and praise
Grant us wisdom, grant us courage
For the living of these days
For the living of these days
Cure Thy children’s warring madness
Bend our pride to Thy control
Shame our wanton selfish gladness
Rich in things and poor in soul
Grant us wisdom, grant us courage
Lest we miss Thy kingdom’s goal
Lest we miss Thy kingdom’s goal
Save us from weak resignation
To the evils we deplore
Let the search for Thy salvation
Be our glory evermore
Grant us wisdom, grant us courage
Serving Thee Whom we adore
Serving Thee Whom we adore
A few weeks ago, we made funeral arrangements and chose a burial plot for Joel. The whole experience was “marked by the intense irrational reality of a dream,” as the dictionary defines surreal. Since when is “plan funeral” or “decide where to bury baby” on any pregnancy checklist? Where is that section in What to Expect When You’re Expecting?
But there I was, flipping through the yellow pages, deciding which funeral home to call first. Biggest ad on the page? Best known funeral home in Hanover? Kenworthy it would be, I decided. The receptionist was kind and empathetic. Mr. Kenworthy himself would need to answer my questions, she said, and he called back that very evening.
Jeff and I had already decided that if and when Joel passes, we will honor his life at a simple private graveside service. Mr. Kenworthy explained what the funeral home’s role would be in picking Joel up from the hospital and coordinating with the cemetery trustees to make arrangements for his burial. Our main tasks were to decide where he would be buried and to chose a casket. He urged us to decide where we ourselves would one day be buried so that Joel would be beside us at that time and encouraged us to talk to family members about available plots near great-grandparents, etc. He also gave many tips about various local cemeteries so we could choose wisely.
Expecting that Joel’s burial could cost up to a thousand dollars or more, and planning to make several calls to get price estimates from the main funeral homes in the area, I asked what costs to anticipate. I was shocked to learn that Kenworthy arranges for the transportation and burial of infants and stillborn babies free of charge. This has always been their policy. Maybe other funeral homes have a similar policy, but who wants to go through a conversation like that more than once? It was a relief to not have to make more phone calls. Such moments of unexpected provision are the kind that bring tears to my eyes, but I managed to finish the conversation without belying the emotion I felt.
A few days later, we asked my parents for their advice about where to bury Joel. My maternal grandparents and a few other relatives were laid to rest at the York Road Cemetery, which is along 116 across from the Bair’s Mennonite Meetinghouse, where my mom attended as a child. It’s a beautiful location for a cemetery, high on a hill overlooking a nearby farm; it will be a wonderful place to meet our Lord Jesus in the air on the great day of His return! And it ‘just so happens’ that earlier this year my parents were gifted four plots in our family’s area of the cemetery by some of my mother’s Herr cousins who don’t plan to use them. My cousin, Stanley, is a trustee for this cemetery, so my mom made arrangements to meet with Stanley and Leroy Ness, the man who has faithfully cared for these grounds most of his working life. Stanley confirmed what Mr. Kenworthy had suggested, that Joel’s tiny casket will be able to share a plot with one of ours some day, if the Lord tarries. So, thanks to my parents’ generosity, and the generosity of those who gifted the plots to them, the only charge for burial will be casket and the actual digging of the grave. Leroy wasn’t excited to hear that this might be in February, as the ground will be frozen and digging will be harder and more expensive then. Stanley and we assured him that we could arrange for help with that task, and any of you who know Leroy will appreciate how much this made him (and us) smile. 🙂
Thus we chose Joel’s final resting place. And he kicked, and kicked, and kicked most of the way home, in an uncharacteristic display of movement, as if to say, “I’M NOT DEAD YET! I’M IN HERE, MOM! CAN’T YOU SEE I’M TRYING SO HARD TO MAKE IT?!”
A labor and delivery nurse on the “Loving With Grace” team at York Hospital who coordinates palliative care for babies like ours told me recently that we are ‘so far ahead’ of many in our shoes because we have already made these arrangements. Maybe we’re too far ahead? Joel’s not gone yet, and I certainly don’t mean to betray him by planning for his demise when we truly don’t know the end of the story. Yet I’m Type A enough to want to be prepared in advance for every possibility. The last thing I want is to be in those post-birth moments, trying to weigh our options and make arrangements from the hospital. So, now my mind can rest, knowing that we have a plan… while wishing we will never need to use it.
One of the most overwhelming aspects of this T-13 experience has been the incredible outpouring of love and support expressed in such a wide variety of ways by an astounding number of people! We haven’t needed the Thanksgiving season to remind us to be thankful for all who have shown the love of Christ to us in very practical ways, but it does seem to be the perfect time to express that thanks here.
Galatians 6:2 has come to mind often during the past four months: “Bear one another’s burdens, and so fulfill the law of Christ.” So many of you are truly bearing this burden with us, making it so much lighter, and we are deeply grateful.
The ‘fourth mercy’ of our most recent ultrasound day was not having to cook dinner when I got home. While God has given me the grace to maintain my composure quite well at all the various appointments we’ve had for Joel, I’ve noticed that I tend to be uncharacteristically exhausted afterwards. The kids also want to talk about Joel more than usual on those days, and I often find myself mentally distracted, wishing for time to just be alone to think. A sweet friend didn’t know all of this, but several weeks ago she asked, “When is your next ultrasound?” and followed my answer with “We’ll be bringing your dinner that day.” It was truly a blessing to anticipate not only their kindness but also their visit, and to have an extra hour+ in the evening to process all we had learned.
God has amazingly timed so many other expressions of love and given them to us at just the moments we’ve needed them… a Facebook message or a card in the mail or a text. We’ve received more communications in their various forms than I can respond to in a timely way… plus phone calls, books, gifts, a handmade blanket, hugs, and yes, more food… a jar of soup… a gallon pail of homemade applesauce… a loaf of homemade bread, etc. Another friend gave us a meal, not knowing it would correspond with another ultrasound day. Yet another dear friend even offered to make meals regularly for us between now and delivery; completely astounding… overwhelming… and humbling. I’m tucking some of these away in the freezer to be prepared for the ‘whenever’ of Joel’s delivery, and it is a comforting thing to know that preparations for that event are underway quite a bit earlier than normal (for me), due to someone else’s generosity.
It has not been easy to be on the receiving end of so many kind and thoughtful gestures. I tend to be of the opinion that it’s our responsibility to raise our kids, and that our decision to welcome as many of them as He chooses to bless us with does not entitle us to extra help from others. We don’t feel that anyone owes us any unique support to enable us to maintain this crazy lifestyle we’ve chosen! With this attitude, it’s been hard to let go of my determination toward independence and accept help during this unique pregnancy. I always expect a pregnancy and a new baby to increase my workload, and at times I think, “I can get through this one just fine too!” Sometimes I want to scream, “Enough already!” in part because of my stubborn self-sufficiency, but also, to be brutally honest, because every sweet word or gift reminds me that Joel is not ok… that all of this help is being offered because my baby is expected to die.
This is probably more of the reason my heart resists being on the vulnerable, receiving end of things than I would ever want to admit. But, being ‘loved’ in such tangible ways has helped me to realize and admit that yes, this pregnancy is different. Yes, Joel is probably not going to be with us much longer, and even though I am not physically sick or on bed rest, this thought alone has been emotionally taxing. There have also been many more appointments than usual, and the mental energy need to process all that we’re learning individually and with the children does take a toll.
When kindnesses are shown, we know we need to see them as expressions of God’s love and care for us during this season, given through His people, and just be ok with being “the helped” rather than “the helpers.” And, we are encouraged when we remember: this is just a season! We look forward to entering a new season in the near future and being able to be on the ‘giving end’ once again!
We had our fourth ultrasound on Thursday, and the phrase ‘tender mercy’ from the first verse of “All the Way My Savior Leads Me” was echoing through my mind during the scan and has been ever since. We sense God’s mercies so keenly and know that He is leading us through this experience. What a joy to fulfill this assignment He has given us knowing that HE “cheers each winding path [we] tread; Gives [us] grace for every trial; Feeds [us] with the living bread!” He truly is sustaining us in every way.
Our third ultrasound (8 weeks ago) was rather unremarkable in that we learned a bit more about baby’s condition but it wasn’t ‘game-changing.’ Baby’s bladder was almost the size of an adult’s bladder at that point, and it was acting as a flotation device, preventing him from turning or flipping. Baby Joel could wiggle and twist and move his arms and legs, but he was expected to stay in his transverse position, with his head/face snuggled into my right hip area. We noted on this scan that his hands were not contracted as some T-13 babies’ are, and he appeared to have a normal number of fingers. The only obvious external deformity was a clubbed right foot, which is very common to trisomy kids. He appeared to not be ‘hydroptic’ at this point, so the concerns for my blood pressure were down-graded, taking a lot of pressure off me to be constantly monitoring it – pun intended!
It was after U/S three that the reality of the long-term nature of this pregnancy began to settle in. I remember vividly a dark, late night when I felt quite trapped and overwhelmed at the realization that I would most likely carry Joel to a full 40 weeks. This is not to say that I was hoping he would be born early. I didn’t really want that either. How can one even begin to know what a ‘best case scenario’ or ‘worst case scenario’ is in a situation like this? Of course nobody knows when he will be born, and the constant awareness that I need to be ready to deliver him within two days of his passing, whenever that may be, can be emotionally tiring. But when the perinatologist explained that he is doing quite well, in spite of his anomalies, because he is hooked up to me – a perfect life-support system – and that his anomalies most likely won’t be overwhelming to him until he needs to do life on his own, I knew I needed to mentally prepare for the long-term while staying ready for any possible time-frame.
Ultrasound four on 11/19 felt much more important, as it was now time to start discussing Joel’s condition in relationship to how he will be delivered and also to begin to make predictions for what his condition will be if he is born alive. We received several tender mercies from God in connection with this ultrasound.
First, Jeff decided to go along, and a rainy day made it all the easier for him to get away from work for a few hours. This is the first he’s been able to join me since U/S one, and the timing couldn’t have been more perfect, as the discussions with Dr. B were so important. It was a comfort to be together to establish common expectations for Joel’s delivery and care after birth.
The perinatologist met with us prior to the scan and then was with us for the entire ultrasound, even doing part of it himself! I can’t being to say enough about the amazing and wonderful medical professionals we have met on this journey. To relate to a doctor who is personable and supportive but not overly sympathetic or emotional, who is incredibly smart and completely knowledgeable, and who is unrushed in examining our baby and discussing our care is truly a great gift and the second of the tender mercies we experienced that day!
A week ago, I sensed that Joel had changed positions in spite of his bladder size, based on where I was feeling his kicks, and the U/S proved this to be correct. His new frank-breech position allowed for a third tender mercy: we finally got a close look at his adorable face! Aside from the technical aspects of his delivery and overall condition, I really wanted to satisfy a personal curiosity that hadn’t yet been answered. Does he have any of the severe facial deformities common to T-13 babies? I was secretly hoping for a 3-D view of his face, if/when they were able to scan it, and without my asking, the tech immediately switched to the highest possible resolution for the scan when she got to his face. While I was prepared to love him no matter the condition of any part of him, I knew from googling ‘Trisomy 13’ a hundred times that his face might be quite difficult to view if he had no eyes and/or a bilateral cleft lip/palate, etc. I was especially concerned about how I would prep our other kids for this reality. It was a true joy – and a third mercy – to see that he does not have significant facial issues. In fact, Jeff and I both thought immediately that he looks a lot like Lydia. It was fun to bond with him in a new way through seeing his tiny features and even a little smile at times.
Joel does have one significant outward reminder of how unwell he is internally. His right leg ends at the knee, and the clubbed foot at its end looks a lot like Nick Vujcic’s (http://www.lifewithoutlimbs.org). Jeff calls it his little ‘duck foot,’ and somehow even that looks cute to us at this point on our journey.
The largest amount of scanning time was spent on Joel’s heart. He has an Atrial Septal Defect (ASD), and one of the chambers of his heart is significantly smaller than normal. Issues remain with his bladder, kidneys, brain, and overall growth. At the end of the scan, we asked which of his many defects will be the most problematic for him after birth, and Dr. B was quick to say that it would be his heart. Because of the ASD, he will probably live for only a few hours or possibly days, if he survives birth.
How he will be born will depend on many factors which can’t be known until the time comes. This continues to be a matter for prayer. I would very much like to avoid a C-section, but since this delivery would be a VBAC, the timing of labor and the requirements for his positioning and physical condition will all have to align perfectly for this to occur. I know God is able to make it happen, but I’m also trying to stay mentally prepared for any possibility in this area too.
Today marks the beginning of the third trimester! We truly look forward to meeting Joel and holding him in our arms, though our hearts break at the thought of surrendering Him back to God after such a short time together. Only 12 weeks or fewer left with our precious baby boy.
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…
Trisomy 13 occurs in about 1 in 16,000 newborns…
Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.”
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!
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.