Sunday, February 17, 2013

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.         

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