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.         

Mystery

Being a regular anywhere is comforting, even in a specialist's office.  We walked into the g.i. clinic today, and were greeted warmly and personally by the receptionist, the norm for us these days in this particular location.  It's funny, when the practice realized Cole's condition was more serious than their initial thoughts, we became family.  Now, each visit is like a reunion, recapping time during peek a boo games with Cole, followed by the task at hand.

After we ran the gamut, the g.i. fellow beamed with pride as he told us about a recent conference he attended where he presented Cole as a case study.  Not only did the images from the scopes baffle the community here in Buffalo, but the they have also puzzled the national g.i. community.  Even the lead g.i. physician agreed that as they ventured through the meetings, there were very few suggestions, only questions regarding Cole's case.  Physicians here still feel that what they are seeing is something more than just Crohn's yet they cannot put their fingers on exactly what it is.

So, once again, based on a suggestion from the conference, we thought we would be heading towards new tests.  However, for now, we've hit a roadblock.  Our immunologist stated she would love to run the labs for us, unfortunately the current study is only being looked at in mice at this time.  Hope came in her next breath as she discussed the advances being made in immunology and how kids who don't quite fit in any given mold are being given their own molds, where others may fit as well.

For now, Cole is still a mystery.  Unlike the frustration of a Rubik's Cube, no matter how many twists and turns I manipulate with Cole, his giggle and smile make moving forward as easy as breathing.

Official

It's official.  Cole was officially diagnosed with Crohn's Disease this morning.

Gains

There's nothing like a taste of spring topped with sunshine to sweeten the start of any day.

Today was Cole's follow up appointment from his last colonoscopy.  Since they had already called us to discuss the discovery of the granuloma we figured this would be a relatively short visit.  At this point I'm come to realize anything less than an hour is just abnormal.  And just as our visits seem to be getting longer, they are also getting closer together.

Now that the biopsy shows a granuloma, the physicians are closer to truly diagnosing Cole with Crohn's Disease.  They are still hesitant because the presentation just is not quite right and they are trying to be entirely sure the nodules and inflammation are not symptoms of something else. There is still the fleeting thought that with Cole's immunological issues the gastro problems could be a side effect of another problem.  So, we continue to wait.  This is the same position we have been in for the past few months, as if our iPod is stuck, repeating the same song over and over.

Even though Cole is flaring right now the doctors are trying to stay away from another course of steroids due to the issues with his immune system.  In addition to suppressing his immune function further, the prednisone could also begin to impact his growth, which at this point is not going in the right direction.  Once again, Cole is losing weight.  This time he is down a little over a pound in the past three weeks.  Unless his symptoms begin to worsen, we are just to continue with our usual medications and work on getting Cole to not only eat, but to put on and maintain his weight.

To help with this task, the g.i. nutritionist will be in touch with us tomorrow to discuss how to bulk up Cole's diet.  One thing I do know, there is no weaning in my near future.  From the last visit I thought I might be able to nurse less, but the doctors have told me I cannot at this point.  I'm ok with this, I just was ready to know there would be no more unexpected bites in my future.

So as we wait to hear what immunology has to share with us next week, we keep working on trying anything and everything we can to get the little man growing.  Here's hoping for big gains in the next few weeks.

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.

Anniversary

Funny how you can remember when certain things happen as if they were time stamped in your mind. The last weeks of February bring Valentine's Day and Nick's birthday. Somewhere in between the two is when all of this began with Cole just over a year ago.

It is difficult to believe a year has passed and we are still searching for answers.

On Monday we learned from our immunologist that Cole does not have CGD, however his nk cell function still came back in the low single digits, slightly lower than the test in the fall. From a medical standpoint, she explained the importance in understanding why Cole's nk cells are barely functioning. Once again, our doctor has reached out to a leading expert from Cincinnati Children's Hospital because at this point she has run all the "normal" tests they would in this situation and is not certain how to proceed. Since the physician in Ohio is the nk cell guru, she should be able to give us a further recommendation or know of a research study that is looking at this type of cell dysfunction with his other symptoms. She may be able to validate a connection between the nk cells, granuloma, and Crohn's Disease, which, as progression is documented over the next few months, may finally be officially diagnosed. Right now there is still the question if all the inflammation is Crohn's or a symptom of something else as many of the different primary immunodeficiency diseases wreck havoc on various organ systems, including the digestive system. Funny how at this point in this journey we are praying it is only Crohn's. There are still many obstacles having this so young, but looking at the other possibilities, this is the lesser of all evils. If this is the case, not only will he continue on his course of current antibiotics, but there is a possibility Cole will be placed on prophylactic antiviral medications to help ward off infections before they can start.

The watched pot never boils, the same is true with the phone. It seems when I am given a time to expect a call it never comes, so instead of anxiously sitting by the phone Thursday morning, I stepped out for an hour with some friends for coffee. Of course the call came, however our physician assured us she would call back at 12:30. Around five I gave up on hearing from her for the day.

So, today should be the day for news. I've got my pen and paper ready for notes, my questions prepped, just need my source. After a year, I am not only ready, but almost desperate for definitive answers, even if it means another turn on this path, anything that brings the doctors closer to the information they need to help Cole.

Once again, thank you all for the message and prayers, your support and love help us stay strong. We love you all.

Reflecting

I selected this post to be featured on my blog’s page at Top Mommy Blogs.

As I look at this week's schedule, I'm glad we are seeing a familiar specialist.  Every time we go to a new doctor we have to retrace our steps, recreate Cole's journey from the beginning even though records and results have been shared before we've stepped foot in the office.  While I realize it's necessary, it is also draining.

Reflecting on the past year, whether in a doctor's office or in my head, leaves me needing to take a deep breath and slowly exhale. Lately, I've been tackling the triumphs and challenges of each day as they come instead of looking backwards or looking too far ahead.

I've learned that there's no controlling certain situations, that they themselves force you to suspend plans, as if you've pressed the pause button on the future.  Instead, at least for me, the best way to cope is to live life purely in the moment and for the day.

That being said, when I think about everything that has led to today, I am almost overwhelmed. Not in an "I can't handle this" sense, but more of an "I can't believe Cole has been through all of this already."

At the same time, I'm thankful. I think of some of the families I've talked to in waiting rooms and how much harder their journeys have been! So while it does break my heart to watch my son go through each needle prick or to listen helplessly while he screams from the inside of an imagining machine, I know it could be much worse on so many different levels.

Many of you have been with me every step of the way, following the saga as it began to unfold, whether it be hearing from me or getting updates from other very close family or friends.  The more appointments and tests we were hustled to, the harder it became to update everyone waiting for a call.  I didn't feel these rundowns were appropriate Facebook status messages, especially since most of the time we were left with more questions than when we walked into each consultation.  Without answers, I didn't feel I had much to share about how our little guy was doing.  In fact, that's where I am right now.

Still, I feel compelled to reflect and share our timeline, since I know many of you are curious as to where the updates are and there are some of you who are just starting to follow our plight, and in order to make sense of where we are now, I believe it helps to know where we've been.

Here it is, as short and sweet as I can make it.

Cole was born full term after a very fast, difficult labor.  Initially, my husband and I were able to hold him but while he was under routine evaluations nurses noted that he could not maintain his body temperature.

As a precaution, our baby was rushed to the NICU.  For the first 24 hours, each visit to the unit seemed to bring more unexpected news; suspected sepsis, continued low blood sugar readings, and the need for a feeding tube.

Slowly, our son began to recover and learn to eat, so we were able to bring him home but were told to be cautious, that we should not expose him to anyone who might be sick.

So we came home, had very quiet holidays with just our kids and brief visits from the grandparents.  It was an odd winter.  After a fall of taking it easy, I was ready to be social, but in Cole's best interests we lived in a cocoon for the winter, waiting for spring when we could push ourselves out and spread our wings.

Things seemed to be going well until Cole was just about three months old.


At the end of February we were finding ourselves in a better groove as parents of three kids.  Our five year old was such a little mom, helping with anything she could.  On the other hand, whatever bucket of trouble was around, our three year old would not only stumble upon, but dive into, doing her best to become the center of attention.  She loved her brother and would try to help, but at the same time she missed being the baby and had no problems making this fact known.

About this time, we started noticing blood in Cole's diapers.  At first it was a few streaks here and there, then it turned into giant globs.  Something was wrong.

Our pediatrician sent us to Women and Children's hospital for an evaluation.  After an ultrasound to rule out telescoping of his intestines they determined he was most likely allergic or sensitive to dairy and soy.  Since Cole was exclusively breastfeeding, this meant no more soy or dairy for me.  The doctors told me once I eliminated both elements from my diet it wouldn't be long before we saw an improvement and in the end, most kids outgrow these protein allergies by their first birthdays.

After a few weeks passed, there was no improvement, Cole continued to bleed.  In addition, after his four month immunizations he began to have a very odd fever pattern.  In the end, it was determined that he must have had a shot reaction.  His next round would be split up, one shot at a time.

Spring turned to summer, the symptoms continued, yet we were told to keep up with the elimination diet and to try feeding Cole different foods.  Initially, he ate a little, then he refused to eat anything, just wailed and pushed all food away.  The screeching went on throughout meal times as well as the rest of the day while his "output" declined.  No matter what we tried to feed him, if he ate two baby spoonfuls we were lucky.


In August my husband and I were at a loss with what to do.  For me, I felt like I must be doing something wrong - but what?  This wasn't our first baby and while I had many questions and was often unsure of what I was doing with Paige, our first, I was very confident with Gwyneth, our second.  Being our third, I was sure we were in for smooth sailing.

At our appointment this month we were assured the allergy should disappear by his birthday.  However, I still had a nagging in my gut that something was not right.  After all, at this point he was eight months old and besides all the medical issues, he was barely trying to roll over, sit up, or crawl.  Instead, he would remain in the middle of whatever blanket I would lay him on.

We were sent for blood work and told we could do a colonoscopy to see what was happening.  When the blood results were in, we learned Cole was severely anemic, which could account for his low activity level.  To treat his anemia, he was placed on iron supplements.  Doctors also decided he would undergo a few other less invasive tests to rule out other conditions before scheduling his colonoscopy.

Both tests showed nothing so the colonoscopy was scheduled in October.  We had to wait a bit because Cole would need to be in an operating room just in case.  The hour in the waiting room after he was taken from me was excruciating!  I watched doctor after doctor come out and talk to parents in the waiting room.  When Cole's physicians appeared they asked me to follow them.

Once in the consultation room the resident began to show me pictures of what they had found.  As he moved from image to image he tried to describe the hundreds of nodules they had discovered.  Before long, the more experienced physician took over, gently explaining the abnormality of what they observed, but assured us that before  we worried too much about what could be we should wait for the biopsy results.  She handed me pictures, an appointment date and led me to my son in recovery.

Wires and tubes wrapped their slender coils around my baby like ivy.  Seeing him asleep, yet so pale and so helpless made me sad that we had to put him through the whole thing.  As I sat in the rocking chair and reached for his tiny hand, the nurse told me she was so sorry.  Through our conversation I learned she saw the pictures from Cole's test and from her experience had not seen anything so extensive in such a little one.  While we waited for our appointment day her comment lodged itself in my head, adding to my nervousness.

With our appointment still a week away, the phone rang.  It was the g.i. practice.  While they could not share results over the phone, they wanted us to come in first thing in the morning instead of the following week.  Once we were there, they did an exam, which I thought was odd because he had just had one prior to his procedure.  My husband reminded the doctor that we were there for test results, not an exam, and the resident smiled, said this was routine and that he needed to go get another doctor.

The two doctors walked in and sat down.  Now, I know from past experiences that when multiple doctors ask you to sit down, what they may share with you may not be good.  Both physicians explained how the practice sat down to discuss Cole and look at similar case studies since they had not experienced anything quite like this in someone so young.  They told us as a group they had different thoughts on how to progress.  It could be a number of things, Crohns disease, ulcerative colitis, or something else.  They just weren't sure.  For now, they would treat Cole as if he had Crohns and would order IBD panels to see if these nodules were the likely result of one of these irritable bowel diseases.  We asked questions and at the end of the appointment both doctors wished us luck and sent us home.

Our ride home was quiet.  I know my head was reeling.  How could doctors not know?  How could a baby have something like this?  How could I stand by and do nothing but give him meds and wait?

When I shared what the doctors had to say with my sister, she gave me some advice, as she often does whether I want it or not.  She and her husband had once experienced some bad news about one of their kids.  She said, let myself be upset, cry if I needed to, but limit the wallowing, it wouldn't do any good, I couldn't change what was happening by being upset.  Just take a night, be upset, then move forward with whatever needed to be done.  Be strong and happy, for it would be best for not only me but all our kids.

It is this advice I come back to when I'm tempted to feel sorry for Cole or our situation.  Really, it could be worse.  And while I would give anything to take it away from him and go through it all myself, I can't.  Accepting what is out of my hands has been tough for me, but has also made me realize just how strong I can be.

It is from this point that our journey took off like the speed of light.  Stay around for the ride, it starts to get wilder than I ever would have imagined.