Tuesday, June 28, 2011

What we know - Part 1

The word that rolls most frequently off my tongue and through my mind right now is IF.  So, I'm not sure entitling this post "what we know" is a good idea because frankly, we don't know a lot of things, or anything for that matter, for sure right now.  However, this is my attempt to start connecting the dots of what we've discovered, conjectured, theorized, and hoped over the last few weeks.  I'm going to start with the GI stuff because...well, because the heart stuff is still a little too much for me to deal with right now.  FYI - there will be potty talk to follow.  Here goes nothing...

So you may know that Keegan has had diarrhea his entire life.  Literally, every single day of his life once he started having bowel movements around 3-4 weeks of age.  It is that way every single day, whether he is fed or not.  He was once on gut rest for an entire week and still had diarrhea every day.  Keegan has never once...ever...had a formed stool.  We have spent almost all of the last 3.5 years trying to figure out why.  It wasn't until the colonoscopy performed in April of this year that we had some clues.  Given the fact that Keegan had a heart transplant, the pathologists at the hospital interpreted what they saw as classic graft-vs-host disease, where the DNA from Keegan's donor, Johnston, managed to form antibodies to his own intestines.  It was a rare, but not unheard of, complication of a solid organ transplant.  The options for treatment weren't great, but there was hope that it could be treated into remission, providing Keegan a small window of hope that he could eat normally and have normal GI function at some point.  We planned to start him on a high-dose 4-6 week long "pulse" of steroids to treat the cell-death process.  Then we performed the blood test to confirm that diagnosis.  It was negative, and in the same blood test, we found that Keegan had actually formed 2 different types of antibodies to his heart.

For a few brief days, we were all relieved that we might have an answer, and in another brief second, it was taken away.  The chief pathologist at Children's then called upon his peers at several different hospitals and mainly at Children's Hospital Boston, where Keegan was treated in 2009.  We waited (sometimes not all too patiently) for almost 2 months for Keegan to be healthy enough to start the steroids and to hear if anyone had any other ideas based on what they saw.  Without a guiding diagnosis, we knew that there were few options other than steroids.  Keegan underwent another colonoscopy 2 weeks ago to see if anything had changed before we started the steroid pulse.  Not much had changed, and we proceeded as planned.  Other than a temporary reprieve from the fevers, we haven't seen much improvement from the steroids.

Wednesday afternoon, I was playing with Audrey in the playroom at the hospital while waiting to see if Keegan would be discharged that day.  The nurse practitioner on the floor came in and asked if I would come back to the room because the attending had something she wanted to talk to us about right now.  Never a good sign.  Truly one of my least favorite phrases.  Other than a physician flat out calling you on the phone unexpectedly, hearing "the doctor is coming to talk to you" is the most heart-twisting things a parent can hear.

Autoimmune enteropathy.  That was the consensus after much deliberation over the last few weeks.  That Keegan is attacking his own intestines.  We jacked up Keegan's immune system so much starting at the tender age of 1 week old that his body does not know up from down, or rather himself from anything else.  This would not be your typical case of autoimmune enteropathy.  We also may never be able to confirm it.  We will run the bloodwork once he is weaned back down to a "maintenance" dose of steroids, but since we cannot completely take him off of immunosuppression drugs without risking rejection, it is likely we won't be able to get a true blood test.  His biopsy results support the diagnosis though, as well as his history.  The only time he was not on an elemental formula was from month 2-12 when he happened to be on a higher dose of steroids.  The condition can also go into remission for no other reason, which may partly account for his temporary improvement last summer (that of course also left as quickly as it came).

It is a great thing to finally have an idea of what is going on, even if it's not affirmative yet.  The problem is there are very little other treatment options available to us.  So having a "diagnosis" does not necessarily make any difference whatsoever.  The reason this was never brought up before is because Keegan is theoretically already being treated for this condition.  The treatment is immunosuppressive drugs.  Keegan has been on one form of immune suppression or another every day of his life except day 1-5 to prepare him for transplant or try to keep him from rejecting his transplanted heart.  There is one other drug that has been used with limited success for AE, and the heart transplant team has no objection to its use.  This drug has the potential to aggravate some other blood conditions Keegan already suffers from, but we may still have to try.  Other more experimental options, like a bone marrow transplant, are not an option for a child who has already had a heart transplant.  A bowel transplant might buy him time or relief, but it's more likely that his immune system is so out-of-whack that it wouldn't matter if it was his own or another's intestines.  They will always be a target.

The plan for now is to continue with the high-dose steroids until Keegan's next echo appointment on the 7th.  If his heart function is at least stable, we will start weaning the steroids down to his old low-level dose over the course of about 2 weeks.  We will then repeat the colonoscopy and see what's going on.  At that point, we would consider starting the final drug, Immuran.  This plan could change at any point if there is any change at all in his heart function (that will be another post).  The GI problems are being accounted for with his 16 hours of TPN every day, so they will take a back seat to his heart if needed.

That's the news to share on the GI front for now.  I will reserve my overall impressions and thoughts on it all until I've posted the rest of the medical picture.  Although I'm sure you can guess how we feel about all this.  Relief from having some...any...guidance in how to proceed or help Keegan feel better.  Despair from realizing that there is likely no cure for Keegan.  Tube feeds (and more than likely TPN too) will be part of his picture in some form or another for the rest of his life.  What do you say when your last bit of hope for a normal life is all but gone?  Even if his heart was perfect, even if he was developmentally and neurologically perfect, even if everything else stabilized...tube and IV feedings will remain.  Sigh.

And that's what we know...part 1.  I apologize for the delay in getting this all out there.  As I said, it's been a lot to process.  And I've only just begun. Thank you for your prayers as we go through this difficult time.  Keegan had a slightly better day today after a rough start.  The days he says he doesn't want to get out of bed are the hardest.  At least it got better as the day went on.  Thank you again...unfortunately, part 2 is still forthcoming.

4 comments:

Sarah Stewart said...

Up late with Miss Emma tonight and saw where you had posted! I just want you to know that you and your family have been an inspiration to us in the short time we have known you! Your endless dedication, tiring research and waiting, the awareness you spread, and the care you show towards others is so inspirational to me! We pray for you and your family all the time! Sending our love--

From one heart mom to another.....
Sarah Stewart

scrippe1 said...

I know how hard it is to keep your spirits up with constant "what now" news being thrown at you. We all pray daily for your family. Thanks so much for the update. I check the blog daily for some kind of news. it has also been great to have your Mom fill in some gaps when you've been too busy to post. We just wish we could do more.

Love to all,
Aunt Stephanie

Susy said...

Maddie-
I hate to hear this. Of course, you all stay in my prayers. I wish there was more I could do other than pray...I'm sure you feel the same way at this point.
Take care-
Susy

Jennifer Meyers said...

Maddie-
We continue to keep Keegan & the rest of your family in our prayers- I cannot begin to imagine all you are going through as a parent! Please let me know if we can help you out in any way!