School

So Cole's Facebook page has kind of taken over for short posts.  I really have so much to update here, and will be a bit more diligent in doing so.  I have to thank you all for being so loyal as followers and really commenting a ton on Cole's Facebook page. :)

Yesterday we ran a few errands because the weather was miserable here again.  I'm a sucker for a clearance, and happened to see some Cars sneakers on the rack.  Cole was so excited...they are the perfect size for fall, just a little bigger than he is now.  He put them on, saw they lit up and exclaimed, "Yeah!!! My sneakers for school!"

School.  School is something we still don't know if he will be able to do.  School is something he asks to do each time we drop the girls off or pick them up.  This fall is supposed to be preschool.  I'm not opposed to having to homeschool, but as a former educator, there is a big part of me that would like him to have the school experience, academically and socially.

At his infusion two weeks ago, more blood was sent down to Houston.  Doctors are once again evaluating his nk cell function and hoping there might be a change.  For now, preschool is off limits, which makes me a little sad.  My girls both had incredible experiences in their programs, thus one of my big reasons for wanting the same for Cole.

Cole does have teachers that come to him.  Luckily, we have been assigned an amazing speech teacher and will be working with her again in the fall as well as an occupational therapist.  He loves to see his teacher and is not only excited about his time with her but demonstrating what he practiced with her once she leaves.  Far cry from the worry I had whether or not he would want to work with her, this summer he has been missing her!

Until then, as we start gathering supplies for the fall, I will keep my fingers crossed for Cole.  Even if he can't go to "school" he will have school, and I will do my best to create as much excitement as I can, even down to his new sneakers and his very own backpack only for school, not the hospital, just as he asked.

Hurry Up

There are times lately where I just am at a loss for words.

Whirlwind doesn't begin to describe our last month.  Between the start of soccer and end of the year festivities, we survived a very long viral infection with the boy.  Luckily, while it was tough and fast, the flare that came after only lasted a few days.  However, we are now combating the after effects of the weight he has lost.

On the other hand, a few weeks ago we participated in the Take Steps Against Crohn's and Colitis in honor of Cole.  Not only was it powerful to see so many other people there in support of IBD, but heartwarming to be joined by so many people on our team in support of not just Cole, but our family.  It has been a challenging journey and this day reminded me that we are not alone, even though there are days it sure feels like it.

Throughout our medical odyssey, there has been tremendous "hurry up and wait" in terms of testing and moving forward.  It seems we've returned to the first part of the cycle once again.

Once again, we are heading for numerous blood tests as ordered by a world renowned immunologist whose specialty is nk cell function.

Late Friday afternoon we received a call from our immunologist outlining some of this doctor's concerns as well as his desire to have a number of new tests run that should offer answers, or at the least, further direction.  Due to the impressively low function, yet not the absence of function, this man believes there must be an underlying cause, not just Cole's IBD.  Again, the blood markers he is looking for in combination with the other panels being run should confirm or discredit some of his thoughts.

As before, some of the blood drawn will go to Cincinnati Children's.  Additionally, a portion will be sent to a lab in Philadelphia.  Some of the tests take a few days, some others, a week or two.  These waits aren't really all that long, considering the lengthy wait last December for Cole's genetic panel for NEMOS. Still, depending on the results we already know further genetic testing may be done and I am not looking forward to that wait.

But, no matter what, I will continue to be patient, one day at a time.  I will continue to share here, just know that there are days neither Nick or I have the words to express where we are and are just trying to keep things as normal as possible for the kids as we move down this road.  This new normal has taught me more than I could ever describe, and my heart goes out to those parents and families whose adventures are much harder than ours.  It is in talking to these families I realize how truly fortunate we are, no matter how difficult our path has been, it could be so much steeper.

Basics

When you are given a tremendous amount of information you often just have to let it sink in.

When you are given this information as the basic pieces you need to know now, then told you need to come in for a sit down discussion, the saturation of information is just different.

I can't say it is really good news, or that it is bad news, or that the news gives us more knowledge than we had before.  However, Cole was given a probable diagnosis, not just a "well it could be this", an actual disorder they are going to treat him for.  Like his g.i. issues, the overall diagnosis cannot come until a particular progression or pattern is noted throughout tests over a length of time, which, we just have not reached at this point.

Between our immunologist here and the expert in Cincinnati, the belief is that Cole just has nk cell dysfunction, which can be an actual diagnosis when no other underlying cause can be found.  Since g.i. also believes he may have Crohn's Disease, they have been examining links between the two.  While there are not many direct correlations, there are links with nk cell function and autoimmune disorders, so at this point, when looking at the whole picture and other levels of function within his blood, this is their thought at this time.  They will continue to run routine blood tests to monitor various functions over time paying close attention to any changes.  In addition, when Cole weans they will be watching what happens very closely.  Because Cole is still nursing, he may have a boost in his immunity at this point, which may partially attribute to the lack of serious infections to this point.

Initially I was thrilled, but this still comes with quite a bit to take in.  

Basically, the way I understand it, nk cells are a first line of our immune system's defense against different organisms.  Cole's just do not fight these invaders.  Viruses are the worst organisms Cole could encounter and could be devastating.  Even viruses within vaccinations are dangerous, which leads to a catch-22 because kids like Cole desperately need to be vaccinated, but any live vaccination poses risks beyond what healthy kids face.  Before any future healthy kids visits or any vaccines, we will be presented with risk versus benefit ratios in order to make informed choices for Cole's choices.    

In the meantime, until we are given the course of treatment and other options for Cole at this upcoming appointment, we were given a set of warnings and precautions, not all that different from what we had before, but with tremendous seriousness and urgency in how to proceed.  Basically any cough, rash, vomiting or even second hand chicken pox exposure could create a downward spiral for Cole.  We are to continue our minimal exposure to large groups for now until our appointment where once again our physician says she will address how we progress from here, treatment, and contacts, especially with other kids.  I am rather curious what she is going to say at this point.  

Our next few weeks are the information rich parts of our road, we have many appointments with specialists to follow up on recent tests and procedures.  Even though we now seem to get multiple phone calls during the week from these doctors to check on Cole, I really like the face to face conversations.  I've learned just as much from their explanations and answers to our questions as I have from their body language, and I'm a bit anxious to see and hear what they will share.

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. 

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.