Week 27 (Part 2) – Ultrasound and NICU Tour

Part 1 of our story of this week is posted under CompassionNet.

Friday morning was a full one, with a follow-up ultrasound and meeting with a few NICU team members. It’s been seven weeks since our last ultrasound, and this was our first opportunity to look at images after understanding the diagnosis, and to see if anything changed.

We met with a really nice OB doctor after the ultrasound who summarized Samuel’s current situation: he still has a neural tube defect (spina bifida), omphalocele (abdominal wall opening), a small heart defect, and other more minor issues. None of his symptoms have gotten better since the last scan, and the omphalocele got somewhat bigger as he’s grown, which may turn into a more significant issue as we near birth. He also is surrounded by somewhat more amniotic fluid than normal, which can cause issues if the quantity continues to grow throughout pregnancy.

In good news, Samuel’s size is roughly on track for his gestational age. Low birth weight isn’t good for Trisomy babies, and we’re happy he’s on pace for his age.

The ultrasound went a little long – we have a lot to talk about these days! – and we went right away to the hospital where we’ll deliver. We had a meeting set up with the NICU support team, which consisted of two medical doctors, a social worker, and one of our CompassionNet people we met on Tuesday.

The whole team was wonderful. They took time to ask what we understood of Samuel’s situation, answered all of our questions as best they could, and made every effort to paint a realistic picture of the different scenarios Samuel could encounter. They were honest and direct, but also supportive of anything we ultimately decide to do.

There were a few new and important items that came out of our NICU meeting. One was that Samuel’s omphalocele will likely prevent him from eating after his birth. Becuase his intestines likely protrude into it, they will probably be kinked in such a way as to make eating unsafe for him. This means he’ll be on IV fluids until the omphalocele is surgically resolved, if we choose to treat it.

We also learned about breathing support. Trisomy 18 children often have trouble breathing. If parents choose to not intervene, T18 babies will commonly reach a point where their brains “forget” to tell their lungs to breathe. This is called “apnea.” If apnea happens for long enough, the child will pass away.

We’ve known about this from our Trisomy research. The big question is: what, if anything, can we do about it? There are short-term options like bagging or introducing air through his nose. The long-term one is being on a ventilator. Because T18 kids can be pretty weak, it’s often difficult to wean them off a vent once they’re on one. It might mean Samuel would be on one for his whole life.

It’s possible, but rare, to send kids home on a ventilator. They make somewhat portable versions of ventilators, and they can train us on how to use one. The shocker came when they told us it would likely take a hospital stay of at least 2-3 months to fully train us to care for Samuel on a ventilator. It’s not trivial at all, and it would be a major undertaking to bring him home on one.

There’s also the difficulty of anesthesia during surgery. Samuel’s neural tube defect and omphalocele are both life-limiting conditions. If there’s any hope of him living more than a few weeks, both of these need to be addressed. He’d be under full anesthetic, and this is a challenging trial for any T18 newborn. They didn’t have stats for us, but there’s a chance he wouldn’t survive the surgery. In addition, he’d need to be on a ventilator during the surgery, and may have difficulty coming off the breathing support when he should.

In summary, Samuel has significant challenges stacked against him. Trisomy 18 on its own means an average life span measured in weeks. The additional complications of the neural tube defect, omphalocele, and hole in his heart further reduce his chances of living very long, and the interventions needed to correct these issues are risky all on their own.

At the end of our meeting, the social worker told us the same thing the CompassionNet people did on Tuesday, that she was impressed with how well we were handling all of this. She doesn’t see all our tears and inner turmoil, but I was thankful for her words.

Afterward, she took us on a tour of the maternity wing and NICU. We didn’t actually go into the labor and delivery floors, but talked about where everything happens and got a feel for the layout. There are some concerns that we’re due in January, which is the height of flu season. This could limit our visitors, including Daniel, which is a significant issue if our time with Samuel will be short. Please pray for a mild flu season this winter!

Our time in the NICU was the hardest for Joanna and me. The NICU is in the new Golisano Children’s Hospital, the same place Daniel was treated for his diabetes diagnosis just three months ago. Many of the emotions from that time hit me when we walked the halls and rode the same elevators as before. I appreciate that hospital a great deal, but I don’t want to go back there! I don’t want to grieve and process and wait and wonder all over again, this time in a situation much more serious than Daniel’s. They provide wonderful care at this hospital – I just really, really wish we didn’t need it.

Our visit to the hospital was helpful, but heavy. We left in the pouring rain, and we needed to get home to pick up Daniel in time for his nap. On the way out we stopped at Chipotle for lunch, because, hey, sometimes you need to treat yo’ self! It was a good decision – it felt nice to take care of ourselves with so much else going on right now.

Thank you for following along with our story. I’m sorry that it’s a difficult one to share in, but we’re so thankful for everyone who loves, prays for, and supports us in this time.

Week 27 (Part 1) -CompassionNet

This week was an important one in our journey with Samuel. On Tuesday we had a visit from CompassionNet, a charity that works with children on Excellus health insurance plans who have a life-limiting diagnosis. On Friday we had two other appointments, which I wrote about separately.

CompassionNet sent not one or two people to talk with us, but four women who spent 90 minutes in our living room talking through possible scenarios for Samuel’s life and ways they can support us through all of them. They provide support to families in these situations, including talking with our medical team on our behalf, helping to coordinate funeral arrangements, providing palliative and comfort care, and basically being awesome supports to us. They have doctors on staff who can visit in our home to explain medical procedures we need to decide about, and they have child life specialists who will work with Daniel to help him understand what’s happening with his baby brother.

All of their services are totally free, paid for not by insurance claims, but as a charity fully paid for by Excellus. They were impressively compassionate and listened to where we were at with processing things.

I was encouraged at the end of our meeting when one of their team said, “I’m really impressed how much you’ve both already processed through things. These are difficult topics to discuss, and I’m impressed with how far along in the process you are.”

It was special for me to hear her say that because I don’t feel especially awesome in where I’m at with these things. It’s incredibly hard, and quite consuming at times. I don’t know if or how we should intervene in Samuel’s conditions, and frankly don’t even know how to make those decisions.

But Joanna and I do talk regularly with each other. We’re surrounded by a lot of people who are really supportive and loving toward us, and we pray regularly for God to touch Samuel and us. We are very aware of the reality of Samuel’s situation, and we talk often about how we’re doing as we each sort through these difficult decisions.

I know that all of these issues and decisions matter a great deal. I’m very thankful that Joanna and I get to work through it all together, and that we’re not on our own. Sometimes I think about people who don’t have a prenatal diagnosis and find out at birth, or lose a pregnancy suddenly, and I’m thankful we have the gift of time to think and prepare and grieve along the way. This is an incredibly difficult season of life, but I’m thankful for the time we have before we need to make many decisions.

Part 2 of this week’s story is posted in the Ultrasound and NICU Tour.

Samuel’s Heart

We went to the pediatric cardiologist a little over a week ago. They’re the first of many specialists we’ll see regarding Samuel’s condition.

We were referred to the cardiologist because our original ultrasound showed problems with Samuel’s heart. Trisomy 18 kids often have significant and life-threatening heart conditions, so this meeting was an important one. Our appointment would involve a detailed ultrasound of his heart and a consultation with a cardiologist.

Joanna’s mom came along to watch Daniel, which was a blessing because the last couple appointments we brought him along to were pretty interrupted by his squirmy-ness. All the pediatric specialists at Strong have great toys in their waiting room, so Daniel was happy as a clam to have both toys and attention from Grandma.

Our ultrasound tech was new and still in training. She was a little slow taking images, but she didn’t poke and prod Joanna too much, so that seemed like a win. We weren’t in a rush; we wanted the best images she could get.

Eventually an experienced tech came in to check things over, and they took us to a different room to talk with the doctor. She started drawing on a diagram with two hearts sketched side-by-side. First she drew a normal, healthy heart; then, Samuel’s. To my untrained eye, they looked pretty much the same.

“I have good news: your baby’s heart doesn’t have any major problems. There’s a small hole in the wall between the right and left chambers, but many healthy babies have this condition, and it often closes on its own.”

I blinked a bit. I didn’t know what to do with such a positive report. From our reading about Trisomy 18 I’d expected the worst: an improperly-formed heart that couldn’t sustain his life outside the womb. This was far better news.

The doctor told us the small hole in Samuel’s heart will likely not need immediate attention after he’s born. This is a considerable relief for us because it removes one of the big questions we could have faced: do we need to perform heart surgery on our newborn? Intervention questions are even dicier because Trisomy 18 kids’ damaged genes often slow recovery, which is already not trivial for any newborn, regardless of health.

As far as we know, Samuel’s other health concerns are still there. But we’re thankful to have one of our potential difficult decisions taken off the table for now.

The Ultrasound

I’ve recently become acquainted with a children’s book about the loss of a baby sibling. It starts out: “On the day it happened, everyone woke up happy.” That describes the morning of our ultrasound pretty well. September 1st was a normal day: Daniel was cute as always, Joanna took him to Grandma’s house, and I brought the car in for an oil change. It felt like any other day.

We went in for Joanna’s 20-week ultrasound, to determine the gender of our baby and do an anatomy check. We had already had an early ultrasound to determine his due date and had no reason to suspect anything out of the ordinary.

Our ultrasound technician was chatty and friendly; she reminded me of a former coworker. We had Daniel with us and he got pretty squirmy, so I took him into the hallway to explore. Playing with the water fountain was the highlight of our travels.

I missed the gender announcement (it’s a boy!) when we were wandering, so when I returned they recreated it and pretended it was the first time Joanna was hearing the news. It was nice of them to humor me.

The first inkling of a problem was when the tech was leaving the room: “The doctor will review the images and be in to talk with you soon. There are a few structures she’ll want to look at.”

I tried to not be nervous as we waited and convinced myself it was probably nothing. Daniel moved around quite a bit during his ultrasound, and it must just be something like that.

A few minutes later a nice woman walked in and introduced herself as the doctor on site that day. “We need to talk about your baby. There are a number of abnormalities in the images we took today.” She started to list them: his facial structure is flattened, the brain is being pressed down, spine has a hole at its base, the heart isn’t formed correctly, intestines are protruding from his abdomen, hands are clubbed over on themselves. There were even more problems she shared later.

The doctor said these signs are often indicative of a chromosomal anomaly. She specifically suspected Trisomy 18, which is a tripling of the 18th chromosome. Further testing would be needed to confirm this diagnosis; an amniocentesis is the surest way to find out, but it carries a small (<1%) risk to the pregnancy.

Trisomy 18 creates a myriad of physical issues, as well as major developmental problems. There’s a significantly increased risk of stillbirth, and if our little guy is born alive, chances are high he’ll only live for days or weeks.

Joanna and I were in shock. Our two-year-old Daniel just spent four days in the hospital last month after being diagnosed with type 1 diabetes. Now we were being told more bad news by yet another doctor.

We decided to do the amnio that day, so we could have a sure diagnosis as soon as possible. If you don’t know what an amniocentesis is, I’ll spare you the details. A quick summary is: picture a 4″ needle being stuck into your pregnant wife’s abdomen, and the doctor drawing out a few teaspoons of amniotic fluid. Joanna was a trooper.

We left after making plans with the doctor for more followup and to await the test results. The following days were filled with many conversations, tears, and reading about this disorder I had never heard of. Life took on a bit of a tunnel-vision effect; I could think of little else, and many other areas of life seemed to lose their importance. Even Daniel’s diabetes diagnosis – such a recent and major life event – receded into the background of my cares and concerns.

Since then things have gotten a little better, although I can’t say this journey is awesome or anything. We’ve had some time to learn about Trisomy 18, and we’re starting to understand what the coming months might look like. Joanna hasn’t miscarried right away or anything, and we’re starting to settle into a new kind of “normal” life.

I wish this wasn’t our story, but it is. I feel close to Joanna, and we pray, cry, and talk together about really important things more than ever before.

We also feel extraordinarily loved by so many people in our lives. From cards arriving in the mail, to offers to watch Daniel, to friends wanting to listen and cry with us, it’s been incredibly reassuring. I knew people cared about us before; I feel it tangibly now.

Thank you for walking with us on this journey. We don’t know where it will take us, but we’re glad to share it with you.