Take Two

Today is colonoscopy number two.  After two days of prep and a morning without anything I am wishing Cole's OR time was earlier than it is.

At first I thought this time would be easier, especially since he will drink from a cup now and then, but he refused after the first two cups so we had to go back to the syringe.  Poor kid is so used to medicine plungers he drinks better from that than a cup!  At least when he was thirsty.  I hope he's clean enough, after he regurgitated the last of the prep all over the two of us Nick declared his prep done while I whisked the baby to the tub.

Little guy is still sleeping peacefully.  I hate to wake him, but he can drink this morning for another half hour and I want him to have something since he refused pretty much everything he could have yesterday.  At least the girls were good with not eating near him or attempting to give him anything.  Before dinner last night they left the pantry door open so Cole grabbed two sleeves of Ritz crackers, whining as he waddled over to me with them. When he handed them to me I thanked him and he gave me the most puzzled look I have ever seen!  At least he can have some today.

Here's hoping today goes smoothly, I will update here briefly if I have a chance while I am at Children's.  Once again, I cannot thank all of you enough for your love and support, as our road stretches longer than I would have imagined knowing you are all there brings me calm.

Oh, and for those of you that know about take one, I did remember to pack extra clothes for myself.

Walking Outside

Every day is a new adventure it seems.  Once we got the phone calls from both genetics and immunology informing us about Cole's results we were also instructed on the next series of steps we needed to take, immediately.

Now that Cole tested negative for NEMOS, there was still the mystery as to what was the root cause of his NK cell dysfunction.  Our immunologist explained not only the case studies she had been comparing him to, but her contact with a leading physician and researcher at Cincinnati Children's Hospital.  They stated we would need to take Cole for additional function tests as soon as possible.  Besides the repeat NK cell test they would also be looking at his perforin/granzyme B functions as well as his IL-2 receptors.  Just like the last time, the blood would be drawn here, then shipped to Cincinnati for evaluation.


In addition to the function tests, now that the genetic results were in, the gastrointestinal doctors wanted Cole's colonoscopy scheduled as quickly as possible.  With a few calls, OR time was found and the procedure was scheduled for next week.


As I drove to our blood work appointment, I dreaded the draw.  Not the screaming I knew was coming, but his face. The absolute look of betrayal when I have to hold him down, then the sheer terror in his eyes as he is pierced while tube after tube is filled with his blood just shatters my heart in a million pieces every single time!  Luckily, today's phlebotomist was the best we've had up to this point.  Unlike others, the first time was a charm and she was easily able to fill the seven tubes she needed without utilizing the syringes to suck additional blood from Cole's veins.  Within a few minutes my baby was back in my arms, twirling my ponytail in his hand, his head lying on my shoulder.


It is truly incredible just how forgiving a little one can be.  Here I struggled from the moment I knew he needed more blood work and in an instant it was like he had forgotten that I assisted the woman who had caused him such pain.  Immediately I thought about the quote that "having children is to decide forever to have your heart go walking outside of your body." 


Initially I realized what this meant not long after our first daughter, Paige, was born.  She was colicky and I just had no idea what to do to soothe her.  After a few days when nothing was working I felt like I was doing something wrong.  Unless we were hiking it seemed like she cried 24/7.  My heart ached terribly when I saw my friends with happy babies while mine was so sad.  Fortunately, as she grew, she also grew out of her colic.  About that time, I needed to return to work and leave her which caused me a worry like I had never experienced.  After a few weeks, I knew she would be ok, after all, she was home with her dad.  Still, the idea that as her mom, I could not always be there each and every second she might need me broke my heart.  I wanted to be able to keep her safe from anything that could cause her pain, like when she was safely growing in my belly.  In the end I knew I could not shelter her from the world, that in order for her to grow and learn she would have successes and failures, and in both, joy and pain.  So while I would worry and share in her disappointments, I would also be proud of her achievements as she grew into an independent child, one learning to make choices and live with the consequences, with and without my help as the situations would allow.  


While more of my heart left my chest with babies two and three, I realized this feeling would not subside and was a natural one for any parent.  There is nothing like the love a parent has for a child not to mention the lengths we parents will go to keep our children safe and free from pain.  


While I still ache when I can't stop Cole's agony or afflictions, I know he is surrounded by love and in good hands, which is the most I can ask for, not just for him, but for all my kids.  No matter what they may endure in their lives, whether I am with them physically or not, a piece of my heart will always be with each of them wherever they may roam.  For this week, it means mine will be walking around a few classrooms and in a hospital operating room while I sit nervously in the waiting room, anxiously hoping for answers. 

Exhaling

Sometimes you don't realize how long you've been holding your breath until you finally let it out.

Just as I was getting the two little ones settled in for lunch the phone rang.

Finally, the phone call we had been waiting for.  Cole's genetic test results had arrived.  The chromosomes analyzed were absolutely perfect, not a single mutation was found in his sequencing, which meant he does not have NEMOS.

Now a day later, I still can't find the words to fully express the relief I felt in this moment.

I remember closing my eyes and exhaling deeply, letting go of the worry for the time being.

Until tomorrow we will relax, falling into the comfort of this sigh for a just a moment before the marathon begins and I am holding my breath again.

Quarantine

Quarantine is defined as a strict isolation imposed to prevent the spread of disease.

It's also why my four year old rolls her eyes at me when I tell her to wash her hands again, because the quick splash through the streaming sink certainly was not enough.  Not to mention the extra loads of laundry because I make the girls change their clothes after being anywhere public.  

Do I believe I'm become a germophobe?  Now that I'm asking anyone that wants to see us even without Cole if they have a cold, I do believe I have.

When Cole was in the NICU we were told to keep him away from any germs and keep him warm since he still might have issues both staying warm and fighting off any infections.  We cancelled Christmas and New Year's plans, instead opting to hibernate and wait for spring.

To be honest, while we missed getting together with people, we slowed down and just enjoyed one another as we settled into our life as five.

As the snow disappeared, we left our cave, ready to rejoin the rest of the world.

Exploring outside was always an adventure!  As Cole's awareness awoke, the girls loved sharing their favorite festivities with their brother.  Books in the shade, jogs in the park, and dips in the pool with friends and family made for one fantastic summer.

While the air began to cool and the leaves began to crunch, Cole's situation was becoming more mysterious. Once again, doctors advised us to keep his exposure to germs at a minimum.  Now that teething was in full swing and everything found its way to Cole's mouth, this would be a challenge in any environment out of our control.

For the second winter we wrapped ourselves inside, armed with Lysol and "magic soap" for decontamination as well as crafts and games to ward away cabin fever.

Luckily, this winter has been a mild one.  Bundling up and getting outside during the warm spells has provided us all with a breath of fresh air.  The brisk walks keep Cole out of harm's way while giving us one thing we can still all do together as we wait for cold and flu season to subside.

Even though it's been difficult to not always go where we want to go as a family, we've been making the most of the situation.  Gwyneth is honing her skills as a card shark and Paige's creativity has been blossoming as she sketches her ideas for The Next Great Baker.

When life begins flashing at the speed of light again, I know I will miss these quiet days.  For now, I will cherish the time we have had to grow together, to really stop and just focus on the most important thing in my life, my family.  And someday, I hope the kids will laugh when they remember the year mommy was crazy and followed them everywhere with the bottle of Purell.

Still Reflecting

When we left the g.i. office I was at a loss. A baby is not supposed to be sick. Their new life should be full of wonder, discovery, and vigor, not white coats and needles. Not to mention the now shattered faith I had in the doctors to give us answers, not just more questions.

After the appointment, I dropped Nick and Cole at home because I needed to be alone. As I drove to the hospital pharmacy, anger and confusion took turns swelling over me like waves before ultimately receding to sadness for my son. Why did he have to endure all of this? Why couldn't it be me instead?

I picked up his medicine, but didn't start it that evening because he had a fever. I wanted to be sure he was alright before introducing anything else into his little body. The next day the pharmacy called and was relieved to hear we hadn't begun since the dosing on two of the medications was incorrect. Once we had been apologized to profusely and told correct amounts, we called the doctor to double check again. They assured us it was right.

A few days later one of the gastro doctors called us to check on Cole. It was at this point we learned they were consulting with another doctor in Montreal. His advice was to see an immunologist as soon as possible. The g.i. doctor had already made us an appointment for the following week.

Before the physical, the doctor had many questions about Cole's journey. She discussed her observations about Cole based on his previous tests and her exam. After ordering more blood work to check a few things she told us it was nice to meet us, then, wished us luck since she didn't anticipate the need to see us again.

Imagine my surprise when checking in at the hospital for his appointment and finding her waiting for us. A few outstanding blood tests had returned since we had met and she explained the need to have additional screens run on Cole. One of these tests would go to Roswell Park, not because he had cancer, but because of their expertise in what she was looking to have analyzed. Another would have to be drawn the following week and sent to the Cincinnati Children's Hospital to check something called NK cell function.

While the nurses poked around, commenting on the atrocious state of his veins as he wiggled and wailed, I tried without success to calm Cole with his favorite song, Five Little Monkeys.

All of it hit me in that moment, the past week of expedited appointments and tests, the idea of sending specimens to Roswell and Cincinnati, the g.i. doctor's echo that they had never seen anything quite like this and yet another blood battle, it was like being hurled into a brick wall. Here I began the day thinking we were just having precautionary tests. Within minutes the new detour had thrown me for a loop, leaving me grasping to understand the bits of new information about what NK cells were and what they were hoping to find in these tests, which now felt anything but routine.

Once again, we waited.

The phone call came a few weeks later. Overall, most of the tests were in the normal range, which was a good thing, but the test from Cincinnati was alarming. Cole's NK cells were severely dysfunctional. In other words, his immune system was not working the way it should be. The good news was that he had some function, which was better than the zero that some kids have.

With such low function, as well as Cole's other symptoms, immunology suspected Cole might have a primary immunodeficiency. They referred us to genetics in order to have a test for a rare genetic disorder called NEMOS.

Days dragged as we waited for our appointment, little did we know what kind of wait we were in for.

This appointment was unlike the others. Most of the time we met with a genetic counselor. First, she built an extensive family tree, outlining all medical conditions we were aware of in a few generations of our extended families. Then she explained exactly why Cole was having the test and how results were formulated. Results would take between 4- 6 weeks, maybe longer, since there were more than 20,000 pairs of chromosomal code to be analyzed. Even after the test was complete, results could need further interpretation by comparing them to the genetic codes of my siblings and me.

Once we were clear on what exactly NEMOS was, why the disorder was suspected, and what the testing entailed, we met the doctor. She was compassionate, swiftly completing her assessment while warmly addressing our concerns and giving us advice. After she finished, we signed consent forms for the test and were moved to another waiting room before the blood draw.

This time I let Daddy do the honors as I snuck over to the hospital pharmacy to pick up refills. When the draw was done, we left, emotionally exhausted from the day, with answers seemingly ages away.

Which brings us to today. We are still waiting. Each time the phone rings and I see a doctor's number on the caller id my heart skips a beat.

Throughout all of this, we've faced other challenges. We've continued the food fight, but learned Cole loves bananas and venison, luckily, not together. We've struggled with developmental delays, however he makes a little progress every day and is catching up. We've even come up with a few tricks to get Cole to take his medicines so I am no longer wearing them as my latest accessory.

In the meantime, like other parents, we've been celebrating milestones. Cole's first birthday and first steps, weight gain after a month of weight loss, his literal burst of mobility after the magic course of steroids, and the first full night of sleep.

Every day is different, some much better than others. Yet each day brings out more of his emerging personality, one filled with antics, and let me tell you, with Cole and his sisters, we will never lack for laughter, even in these uncertain times.