(Originally published to Sam’s Caring Bridge site on 3.24.19. To read all previous entries from Sam’s NICU journey, visit his Caring Bridge site: https://www.caringbridge.org/visit/samueldwenger)

I’ve been hesitant to write this post, not because I don’t want to share what’s been happening with Samuel, but because it’s hard for me to find the right words.  In my last post, I mentioned that Sam had an orthopedic consult coming up, and as a result of that appointment we were once again thrown an unexpected curveball in Sam’s journey.  Here’s what has transpired since then:

We were scheduled to take Sam to the orthopedic specialist at Cincy Children’s on Feb 28th, Jim was going to take the day off so we could all go together.  But on the Sunday before, the hospital called and told us the doctor was no longer available that day, so we could either move it up by two days or wait another month.  We opted to move it up, even though that meant Jim couldn’t go along.  So I took Sam to Cincy on the 26th, and the appointment started off smoothly – the doctor examined the little hump in his back and said that he needed a couple of xrays to get a better look.  After getting two quick images of his spine, we were back in the exam room waiting for the doctor to review the xrays.  

When he came back in, my assumption was that he would tell me that Sam had scoliosis and that he would require some kind of back brace.  Instead, he told me that his scoliosis was minimal and did not require treatment, but that the shape of his vertebrae were concerning.  From what I remember (because inside I was starting to panic and having a hard time absorbing the information he was giving me), he said that Sam’s vertebrae appeared flat when they should be more round, that he was missing one vertebra, and that his hip sockets were too square.  All of this, he said, pointed to a genetic disorder called ‘skeletal dysplasia.’  He said that he would refer us to a genetic specialist right away, that Sam would need an MRI and CT of his spine under general anesthesia at 12 months of age, and that we needed to cease any physical therapy related to the torticolis in his neck until we knew more.  I was dumbfounded.  Not only were my expectations of a scoliosis diagnosis flushed completely down the toilet, but an entirely new burden of information was being heaped onto me without warning.  The doctor and nurse both asked if I had any questions and I bewilderingly said, “No?”  Of course, I would have a million questions later, but in that moment the only one that came to mind was, “Is my baby going to be ok?”  

When the appointment ended I quickly packed up our things and buckled Sam in his carseat, choking back tears all the way out to the car.  When I got in the car I started sobbing.  I called Jim, called my mom, called some friends, and tried to keep it together enough so that I could drive home safely.  Jim took the afternoon off, met me at home, and we spent the afternoon and evening cuddling and playing with Sam and talking about what we had learned.  As we talked, we realized that this type of diagnosis somewhat made sense:  Sam’s neck and back weren’t improving as they should, so it made sense that the problem would be skeletal rather than muscular.  And when he is sitting up, he isn’t able to reach the floor because his arms are shorter.  Jim encouraged me that we would take it one day at a time and that God still had a plan for Sam’s life and was providing for his every need.  But I felt consumed by so many emotions.  I was shocked, devastated, angry, confused, anxious, and sad, and I just kept wondering, “Why, God?” and “Now what?”

In the days that followed, I started making the calls to set up his appointments with the genetic specialist and for his MRI/CT.  They told me that the soonest Sam could be seen by genetics was in three months at the end of May…

I want to pause here and give you a visual:  A few weeks ago we were watching “Planet Earth: Dynasties” on BBC – the episode followed a pride of lions.  The pride’s matriarch lioness has a pair of cubs hidden in a fallen tree and a nearby herd of water buffalo are threatening to trample the cubs to death.  The lioness covers the cubs with her body, sinks her claws into the bark of the tree and defends them with all the ferocity you might imagine an angry lion can muster.  This vivid image of the mother lion has stayed with me – an example of a common motherly instinct shared across various species.  God’s design and creation truly astounds me.

…Cut back to the hospital’s scheduling department telling me I would need to wait three months for an initial genetics consult:  Lioness-Liz was not accepting that answer.  A three month wait would mean three months of lessened, or incorrect physical therapy.  And even after our initial consult, we knew it would be several more weeks of genetic testing that would follow.  I began calling other hospitals with genetics departments, all of which had similar wait times.  So then I moved on to calling any/all personal contacts with medical connections that I could think of, filled them in on Sam’s condition and waited to hear back.  And while we were waiting, God was working.

A few days later I received a call back from Sam’s in-home therapist.  She told me that she had been in contact with a personal friend who happened to be the director of the Center for Skeletal Dysplasia at Johns Hopkins – a connection I could only dream of making.  Meanwhile, Jim had also spoken to someone about getting Sam into the genetics department sooner at Dayton Children’s hospital.  Within a couple of days we had an appointment scheduled at Dayton and a phone call with a genetic counselor at Johns Hopkins.  Our plan was to get the first round of assessments and tests done at Dayton and then consider taking him to Johns Hopkins for further treatment.  The phone call with the genetic counselor was really helpful, in that she prepared us for what to ask and discuss with the doctor at our next appointment.

So last Thursday we took Sam to his genetics appointment at Dayton Children’s.  The doctor did a physical exam of his neck, back and limbs, asked us about our family history, as well as Sam’s medical history, and we discussed all of the information we had received from the genetic counselor at Johns Hopkins.  He recommended that we take a “skeletal survey” (a series of xrays of all the bones in his body) and do a urine test to rule out a certain group of orders, both of which we could do while we were there that day.  Then, based on those results, he would decide what panel of genes to screen via blood test.  The next day, the doctor called me to say that he had reviewed the xrays with the radiologist and that based on the shape of some of his bones, he suspected something called “spondylometaphyseal dysplasia” (and yes, I had to ask him how to spell that).  I tried not to do too much googling of the disorder, because I didn’t want to let myself go down a worrying rabbit hole.  But what I do know is that it is characterized by flattened vertebrae and shorter, wider “long bones” (femur/humerus), and that it is very rare.  He told me that he can’t be sure until he does the gene workup, which we won’t do until the urine test results come back (likely in another week).  While we are awaiting the next round of testing, we will be coordinating with Johns Hopkins who has graciously offered to work in an appointment for Sam in April, despite normally scheduling six months out.  We are so grateful that they are willing to take on his case so soon.  (I’ll also quickly mention that in addition to this new possible diagnosis, he is still at risk for CP.  Some of his movements and movement delays still show signs that he could develop cerebral palsy, but it’s also possible that these delays would be related to a genetic disorder.)

So we have survived the last two anxiety-filled weeks, and we are exhausted – Sam also had a cold, a trip to the doctor for a suspected ear infection, and teething aka not sleeping in those two weeks!  For me, there have been two things these last couple weeks that have been extremely difficult:  The first is how devastating it is to know that all we’ve dreamt about or imagined doing with Sam as he grows may not be realistic.  I think every parent probably dreams of playing catch with their child, teaching them to ride a bike, or taking them for a walk in the park.  And while I have no way of knowing to what degree Sam’s condition will affect his physical ability, it’s heartbreaking to think that some of those things may not come easily him, or even at all.  

The second-most difficult thought I’ve had to deal with is the question of “Why?”  Since I left the house for the maternity ward on the night Sam was born, it seems like I haven’t been able to catch my breath.  First it was my emergency C-section, then Sam’s NICU stay, then the risk of cerebral palsy, and now this.  I want so badly to take a deep breath and let out a big sigh of relief, but that hasn’t been my reality, and I want to know why.  The honest truth is that at times I’ve felt abandoned by God, that he would continue to let Sam and our family go through these struggles.  But at other times He reveals His faithfulness to me in ways I couldn’t have imagined (like the Johns Hopkins contact), and I know that He is working for our good and sees us and cares for us at our highest highs and our lowest lows.  In fact, on the night we found out I was pregnant, Jim pulled me aside before we looked at the pregnancy test to see the results.  We had struggled for a couple of years to get pregnant and had been going to a fertility clinic.  We knew that if the test was negative we were going to take a break from the clinic, stop stressing over conceiving and just get back to enjoying life for a while.  He played a song for me, “Hills & Valleys” by Tauren Wells, and it has sort of been an anthem for us with everything we’ve been through over the last 18 months:

I’ve walked among the shadows, you wiped my tears away
And I’ve felt the pain of heartbreak, and I’ve seen the brighter days
And I’ve prayed prayers to heaven from my lowest place
And I have held your blessings, God, you give and take away

No matter what I have, Your grace is enough
No matter where I am, I’m standing in Your love

On the mountain, I will bow my life to the one who set me there
In the valley, I will lift my eyes to the one who sees me there
When I’m standing on the mountain, I didn’t get there on my own
When I’m walking through the valley, I know I am not alone
You’re God of the hills and valleys
And I am not alone

I’ve watched my dreams get broken, in you I’ll hope again
No matter what I know, I’m safe inside Your hands

On the mountain, I will bow my life to the one who set me there
In the valley, I will lift my eyes to the one who sees me there
When I’m standing on the mountain, I didn’t get there on my own
When I’m walking through the valley, I know I am not alone
You’re God of the hills and valleys
And I am not alone

Father, you give and take away
Every joy and every pain, through it all you will remain over it all

On the mountain, I will bow my life to the one who set me there
In the valley, I will lift my eyes to the one who sees me there
When I’m standing on the mountain, I didn’t get there on my own
When I’m walking through the valley, I know I am not alone
No I’m not alone

God of the hills.
God of the valleys.
You’re God of the hills and valleys, and I am not alone.

So as we’re facing a lot of unknowns in the coming weeks and months, please be praying for peace and direction for our family, and for Sam’s continued growth and development.  We’re grateful to have such loving, caring, supportive friends and family.

An Unexpected Twist

August 13, 2019

By

Liz

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