Fast and Raw

Sometimes a reaction is fast and raw to news..this is it, it's all I have in me tonight, since my head is reeling and my heart aches thinking about all of this.  Take it as you will, unedited and in its full nakedness of emotion.

While we've been on an upswing from one magical weekend, from Laurie Berkner to birthday cake and Christmas crafts, it was time for the pendulum to swing back into reality.

It's funny, there are so many days I sit with Cole, play with him, snuggle with him that it baffles me to think there is anything wrong with him.  Seriously, I believe it is all some kind of a fluke, a mix up of some way.

This afternoon it all came down  at once.  Persistent beeps from the other line had to wait as I tried to help Nick with his truck issue even though the source of those tones was that of our albatross, the call about our invisible chains, the invisible disease possibly polluting my precious boy.

Once the truck was taken care of, we had to wait until later in the evening for the call to come back.

Here's the thing.  While it is news, it isn't.  While it is breaking my heart tonight, it honestly isn't anything we haven't been told before.  Yet, that being said, hearing it all over again has ripped the bandage off a still festering wound.  I just want my son to be healthy and normal.  I would give everything for that.  To be told you may have some very difficult decisions ahead of you regarding your beautiful almost four year old just isn't right, it isn't fair on so many levels.  Truthfully, what breaks my heart the most is that he doesn't know any differently and watching him so full of life, innocence, just makes all that might come that much harder to accept.

And there it is, the word might.  It is still all such a crap shoot.  With genetics it is all about the possibility and probability.  IT is likely, but it may never happen at all.  If it does, it is often fatal, then again, it may never be an issue.

Here is what we know.  Cole has this mutation in the STXBP2 gene.  The information from the whole exome sequencing tests is contradictory.  One way of looking at it indicates the mutation falls in a silent region of coding, one that really doesn't really affect the body and is very hard to detect.  Not that it can't be something to worry about, but the likelihood is slim.  The second way of looking at the results indicates hlh markers, the higher probability Cole would be impacted by hlh with the right triggers.

Our immunologist and genetic counselor here in Buffalo have talked with geneticists in two different labs. Both labs agree that the data we have was contradictory and belives we need to move ahead with more tests. They said the recommendations are at extreme ends of the spectrum.  One felt we should look at every single gene that could be an hlh marker,almost like a witch hunt as we have had this run before with the whole exome sequencing and the only hlh gene that was indicated was STXBP2.  Then again, it would also rule every last question out regarding hlh risk for Cole.

The other lab felt they could target two specific exons within the STXBP2, exon 3 and exon 5 as these are the areas where the mutation lies.  If looking closer again they found anything that would indicate an hlh marker, we immediately head to Cincinnati Children's and start discussions about treatments and transplantation.  Which, I was reminded again tonight, is not without its own risks.  I'm sorry, and maybe I'm rambling, but why do I have to think about risks with my perfect little boy?  Why can't we just get excited about preschool and trains like every other four year old?

There was also an in between, we could just resequence STXBP2 for a closer look.  But really, in the end, the two exons are what our doctors say are the area of the problem and exactly what needs to be looked at to confirm or dispute the other findings.

In the end, we have to decide, the doctors do not feel there is one right path, we have to choose, just like we may have to weigh tough options in just a few months.  We have a recommendation from our physicians here, but still need to decide.  Of course all of these options are not covered by insurance, being genetic tests they are harder to get covered.

Right now we need to make some decisions.  Obviously the smaller the area to be coded and analyzed, the faster the turnaround time.  Holiday time is not the best for shipping samples, so while we want to have this started immediately, it looks like they will wait until his next infusion date.  In addition, our immunoligst is going to run the regular panel to see if Cole has had any exposures to chicken pox, mono, or any of the other viruses he may struggle with due to his nk cell dysfunction. If he has been exposed and has begun to build antibodies, we maybe looking at something completely different.

Like I said, all of this is information we have known, yet tonight, it is tearing my heart apart.  I'm not sure if it is just getting closer, if it is realizing no matter how normal we get to be for just a moment, Cole is still sick, or the mention of the difficult decisions ahead that got me tonight.  Maybe it was a combination.  I'm praying for a miracle. Praying somewhere, somehow, this is not right, that my little boy will not have to endure more than he already has, that the Crohns is the only cross he will have to bear.  Please help me with my Christmas wish.  Share his story, please help us get more prayers for answers and maybe even a miracle.

That is all I want this Christmas.  That and maybe a trip to med school so I can start searching for the answers myself and fix all of this for my beautiful boy.

Bursts -2

After about an hour on the phone with our local immunologist, my head was spinning.  At the end of our hospitalization during the flare, gi had consulted her about their new treatment plans for Cole.  In turn, she needed to discuss all aspects of the next steps with Dr. Orange in Houston.  As the expert, he was the one who would really understand how all his Crohn's treatments would impact Cole's immune function.

In terms of the 6mp, we no longer had to worry about the repeated blood screens and frightening warnings, as taking this drug is not an option for Cole.  The  possibility of bone marrow suppression could be devastating, leaving him at greater risk for infections from the very class of viruses his body cannot combat.  In his opinion, of the suggested courses, Remicade infusions would be the best route at this point.  However, Cole would need to also be placed on an anti-viral regimen to add an extra line of defense since the treatment is an immunosuppresent.  In addition, Cole would need a prophylactic antibiotic since there are risks of mycobacteria infections doctors are concerned about as we take this path. 

From there, we learned there was other news.  After looking again at the CD16 studies, they ultimately determined his cells did not meet the characteristics necessary to confirm the marker findings from the fall.  As a whole, they did meet some of the criteria with cytoxcity but varied as the nk cells cannot function with Cole's B cells to fight disease cells.  

With all the developments regarding Cole's gi issues over the past few weeks, and the impending commencement of the medical infusions, the doctors in Houston are doing their best to move quickly to find the underlying cause of his nk cell dysfunction.  As wonderful as our gi physicians are, the fact that they have slight doubts that this is really Crohn's makes me worry about using the harsher medicines on my little guy.  If he truly needs them, of course, but if he really needs something else, I don't want to subject him drug infusions if ultimately they are not in his best interest.  Our immunology team shares this concern.  Which is also why they are screening Cole for every known primary immunodeficiency that has been ever been diagnosed.  They are optimistic about a recent discovery called STAT1, which may be where Cole finally fits.  Of course, there is also the slight chance Cole is a new pi himself.

As researchers move forward in their continued study of Cole, they have also asked us for more blood, not just from Cole, but Nick and I, as well as the girls.  This is for another study of whole-exome sequencing and genome mapping.  By creating our genetic family tree they can compare and look at every last genetic deletion, mutation, and familial pattern they want.  In the process, we have to choose how much we want to know about their findings that may be unrelated to Cole's disorder, but our own make up.  Never would I have elected to know about what my children or I were predisposed for, yet with the information literally to be at the tips of my fingers, it is tempting to know.  Of course we need to learn all we can about Cole, and if the girls have anything underlying related that may be lying dormant, waiting to appear, we want to know.  But for myself, I'm not so sure.  

For now, we are getting ready to tell the girls they need to go to the hospital for some tests.  I think Gwyn will be fine, but for Paige, who is deathly afraid of needles, I am apprehensive about her reaction.  Nick thinks she might need a kitten to avoid a repeat of the 2010 flu shot fiasco.  Don't worry, I will post pics if we have a new fuzzy friend here!  To be entirely honest, I am grateful he will be there to help, since I don't think I could do this round of blood work with all the kids on my own.

For now, my mind is tired, reading about all the various drugs and their side effects.  Learning what to expect with infusions, and thinking about all the implications of the next set of results has been draining.  As surreal as this has felt, as often as I wished to wake up, appointments remind me it is all so very real.   At the same time, I am fascinated every day with all the leaps and bounds in medicine.  It makes me want to be the one analyzing the cells and unlocking the new puzzles.  Wonder how much school that would take.  So thankful for all of our incredible teams here in Buffalo, and from around the globe, they are our heroes and they may not even know it!

I hope I have explained clearly enough about where we are on our road, and that it is make some sense to all of you who love and support us.  It has been complex, yet the complexity seems to have an infinitive means of expansion, which can be hard to follow.  For now, the information we've been waiting for is so close we can taste it.  We are hopeful and pray we will know more of what it all means and what is best for Cole very, very soon.         

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.

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.