13 Pavements


When Olivia was born, her inability eat, rapid breathing, and her adorable, yet troublesome, squeaking were our first indicators that something wasn't quite right. Diagnosis: Laryngomalacia. It was manageable and would likely resolve on it's own. It posed some problems, but we managed.

She squeaked through the 11 months, RSV and hospitalization, numerous illness, and no less than 11 ear infections. When she was finally evaluated for tubes, her wonderful ENT did a scope to check things out before doing any procedure. Typically children with problems like hers needed to be intubated while under anesthesia and he wanted to be prepared. After he finished the scope, he sat silently for a long time before telling me "something isn't quite right." He was uncomfortable with what he was seeing and sent us to another specialist.

A few months later, another hospital stay, an MRI, an echocardiogram, swallow study, and gastric emptying study, we were sent home with Olivia tethered to an oxygen tank.

Over the last six months, we have adapted to her therapy schedules and goals, learned to balance our heavy load of supplies any time we go somewhere, and adjusted to the changes of her needs.

About 2 months ago, I had noticed that Olivia was having a harder time recovering when she would get upset or cry hard enough that her O2 sats would drop. Her sleeping patterns were being more inconsistent than normal. I called her specialist, Dr. A, and we were able to see her a few days later.

During the appointment, Dr. A asked the normal barrage of questions and I filled her in on the changes, what the problems were, and what areas Liv was having progress in. Dr. A sat quietly for a moment and then asked me, "Does Olivia look like you or your husband?" I stumbled over my answer, trying not to give an validity to her question before finally saying, "No, she doesn't." I felt the anxiety seize my heart and take hold. I knew where this was going.

"I want Olivia to see a geneticist," She said with the careful measured calm of a good doctor.
"I want to see if there is any underlying reason behind all of these problems."

Geneticist. Geneticist. I have worked with enough special needs kids in my life to know the significance of what seeing a geneticist means: syndrome.

That word screamed over and over inside my head as we stumbled out of her office and made our way home. This could mean a thousand different things, not one of which were appealing or satisfactory answers. But still, a part of me felt that this was right.

Three weeks ago, we met our genetic counselor, Sarah. She took our detailed medical histories and drew Olivia's blood for a microarray blood test. She arranged for us to meet with a geneticist, Dr. Gm from Seattle Children's to discuss the findings or do further testing if the microarray proved inconclusive.

Wednesday morning, Olivia and I went to the hospital to meet Dr. G. The moment he waked into the room, I knew. A wave of peace washed over me and I heard in my mind, "Yes, this man will set us on the right path for Olivia." I can count the number of times on one hand that I have had such a distinct spiritual confirmation like that.

Sarah and one other genetic counselor joined us in the room. Sarah sat next to me while the other played with my sweet Livi so that Dr. G could have my full attention. We discussed the problems that she has had and what things are being addressed.

"Well," he said, "you're daughter has all these problems for a reason. I have received her blood work, and we have found something."

I felt the blood drain from my face. "Okay," was all I could say.

I won't try to go into the detail of the conversation. I'm not sure that I heard most of it anyway. But this is what we know. Olivia has a very, very rare chromosomal disorder called 13q Deletion. As I understand it, at her 13th chromosome, there are breakpoints. Within those breakpoints are about 102 genes. That missing material of those genes is what is causing many of her problems. There are learning disabilities and developmental delays in addition to the various health problems. We aren't sure to what degree this will affect her, although she has already been in various therapies for several months already addressing these issues. Most notable, Olivia is missing the RB1 gene. Because of this specific deletion, Olivia is at an incredibly hi risk of retinoblastoma (eye cancer) bone tumors, and other related tumors. While the 13q deletion syndrome is not fatal, complications from it can be. We are being sent to see special teams in Seattle at an urgent status to start doing these scans. She will have to have these scans every 3 months for several years.

As we spoke, Dr. G said that while he was "mystified" by the breathing problems she seems to have, he was "completely amazed" that she was walking and that she can speak any words. He informed me that many of the cases he reviewed about this, many of the children were barely sitting up by themselves as 19 months and not walking or talking until 3 or 4 years old. He then said in his soft British accent, "I am even further amazed that your daughter is so beautiful. Most children with 13q have facial deformities."

It was at that point that I finally began to weep. I looked over at Olivia toddling around the room, her beloved puppy in one arm, happily opening and closing every cupboard she came across. I instantly felt overwhelmed with gratitude for the sweet tender mercies of her beauty, of her good natured demeanor, and her accomplishments.

As we waited for the elevator, Olivia spotted the giant fish tank the have on the peds floor and began pointing and making her "fish face." She put one hand on my tear stained cheek and pointed for me to look. I looked at her eyes, her excitement, and couldn't help but smile. She is still our same sweet Olivia. Nothing has changed within her. She is as happy as she ever has been. There is an overwhelming comfort and peace in that knowledge. We have a long, difficult journey ahead of us that is just getting started. So I am going to remember that knowledge, I am clinging to it.

Fast forward to 9/13/2011....


Where to begin?  I don't even know.  Words, thoughts, and emotions are colliding so violently within myself it's hard to make sense of it all.  But I will do my best.

Last Friday, Liv took a nasty fall at the swimming pool resulting in arguably the larges goose egg I have ever seen right above her eye.  Like any other mom, I obsessively checked her for signs of concussion for the next 24 hours.  As far as I could tell, everything seemed okay.

The next day as I was changing her I studied her eyes, still worried about the angry bruise that had formed over her eye when I noticed a glimpse of white underneath her  left pupil.  Alarmed, I looked more closely and saw not only the white underneath the pupil, but also that her once blue eye was now brown.  I showed Brandon and we rushed her to the ER, unsure if the change in her eyes was due to her fall or if it was related to her chromosomal deletion.

At the hospital, I explained to her doctor (who had never heard of 13q deletion)  the risks of eye tumors associated with the deletion and why all of this concerned me more than it would if she only just had a bad fall.  I poked her forehead a few times, shined a light at her, said he "wasn't sure" what caused the eye color to change, told us she was fine, and sent  us home.

We were furious.

It was agony waiting the rest of the weekend to call her specialist in Seattle.  On Monday night, she returned my message having cleared an opening for Olivia the next day.  Since, the husband was out of town, I arranged for my sister, Katie, to take over my business for the day and my sister-friend Nichelle went to the hospital with Liv and I.

They started with the typical eye exam for small children, where they show the child a series of gray boards where the child my find the square of vertical lines on it, each board getting smaller and smaller.  The checked with both eyes uncovered and then with her bad eye covered and she did great.  When they covered her good, Olivia began to panic and started to cry.

The assistant and Nichelle stood in front of Olivia as I held her, trying to get Olivia to find them, to look for them.  Olivia only cried harder.  Nichelle said, "Livi, find Aunt Shell."  A fresh wave of sobs escaped her as she reached out towards Nichelle's voice, but never making contact with Nichelle's hands or face.  Nichelle and I looked at each other and we both knew this was bad.

As we walked back to the exam room I said a silent prayer pleading to Heavenly Father to brace me, to soften the blow that was sure to come.

Minutes later, Dr. H came into see us and began to examine her eyes.  It took less than four minutes for Dr. H to confirm that there is, in fact, a tumor.  I felt my heart seize.  Somewhere, deep inside me, I already knew this.

They dilated her eyes to get a better look and then performed something similar to an ultrasound on her eye to get a better idea of the kind of tumor, the size, and placement of it.  The second Dr. H stepped out of the room, my world seemed to collapse in on itself and I began to sob.

Another doctor was brought in to consult on the images and look at her eye himself.  I couldn't seem to find my voice and remained mostly quiet, softly kissing the cheeks of my exhausted child.  Thankfully, Nichelle was there to ask all the right questions and keep me from falling apart completely.

At this point, they are quite certain that the tumor is a retinoblastoma, which is cancerous, and that based on the size of the tumor that it is most likely Stage E cancer (like Stage 5 cancer).  Back in May, her exam was completely clear.  She had no signs of tumors.  They are alarmed and concerned that this tumor has grown so big in such a short amount of time.  This is completely baffling to them.  If what they suspect is true, Liv's eye will need to be removed.

When I called Brandon, we didn't speak for a long time and just cried together.

This coming Monday after Olivia's Botox surgery, they will do a CT scan to confirm what they already suspect.  Additional staging procedures will be done, an MRI to make sure the cancer has not spread, and surgery will be done within the next couple of weeks.

None of this seems real.  It is such a cliche statement, probably because it is so true.  There are no words to articulate the heft of this burden, the seemingly infinite unknown that comes with it, and the sorrow we feel for what our daughter, our baby, will have to go through.
We will know more on Monday.  I may not sleep until then.  In the meantime, please, please, please pray, think happy thoughts, send love, light a candle, chant, or whatever it is you do, for our sweet girl.
                                        .                 .                  .                       .                   .            .
It is now March 2014, and Olivia was declared officially cancer free in September of 2013. The chances of retintoblastoma returning at this point are practically zero! 
However, Olivia's fight if far from over.  We currently spend a lot of time at Seattle Children's for continuing appointments, tests, Botox surgery ever two months or so, and multiple other things that continually pop up with Olivia due to her rare chromosome disorder.  There will continue to be a mystery of illness, ailments, disabilities, and other problems that arise due to 13q Deletion, and we have very little information to go on as to what her future will hold.  There will always be therapists, always be a lot of doctors, and cancer returning is not a matter of if, it's a matter of when.  
And in the meantime, we are doing the best we can to make this life a good one.

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