Diagnoses

I have been meaning to update for over a week and somehow the hours keep ticking away and there just hasn't been a moment.  We are all incredibly exhausted and still trying to recover from the hospital.  That being said, I wanted to fill everyone in on what they found while we were there.

As I had mentioned previously, one of the biggest things that Dr. P had brought up and wanted to look into was the colon function.  Oftentimes if the colon is full it will send signals to the stomach that there is no more room and to therefore not empty any more contents, thus delaying the gastric emptying process.  This is something that no other doctor had either mentioned or looked into before.  The first thing Dr. P wanted to do with Charlie was to clean out her colon by starting a regime of laxatives, which I had mentioned previously.  It has taken several months to find the appropriate dosage for her, the one that gets her bowels moving consistently since she is chronically constipated as a result of all that is going on with her.

When scheduling this last round of tests it was incredibly important that we have her at the right dose and that she was "going" regularly (although forced with laxatives).  It made for, as she said, "the best circumstances instead of the worst."

With all that being said, everything that we had originally thought to be wrong with Charlie we have now to come find out is not quite the case.  Her original diagnoses of Gastroparesis is not what is actually wrong.  Each test she had that definitively proved that she had Gastroparesis was a result of her colon not functioning properly and being too full, therefore sending those signals to the stomach to stop emptying.  What she does have is called "Neuropathic Small Bowel Dysmotility."  It is an incredibly rare motility disorder, especially in children, and one frankly I still don't fully understand.  What I do know is that it is quite the opposite of Gastroparesis but with many of the same symptoms.

In a healthy individual with normal motility the Small Bowel (which is your small intestine) goes through three different phases.  The first phase is the resting phase, which occurs between meals/digestion.  The second phase is the mixing phase where the food is churned up so that it can be digested and pushed down towards the large intestine.  Lastly, there is the recovery/housekeeping phase where remnants are pushed through along with any added secretions.  Charlie's intestines only go through one phase, which is the second phase.  There is never any rest and never any recovery.  In addition, the contractions that she does have in that second phase are arrhythmic and incredibly frequent and strong.  This is true for the contractions in the stomach as well (strong and frequent.)  Therefore, Charlie's small bowel (intestine) is extremely hyperactive, irritable and incredibly inefficient.

For the time being we now need to change the course of treatment.  We have taken her off of the Erythromycin as that was incredibly counterproductive.  It was forcing stomach contractions in a child who was already having forceful contractions.  We have now been prescribed some new medication to try which will work at hopefully slowing down the signals from the nerves and therefore slow down the contractions.  We have decided to give her body a bit of time to bounce back on its own from that last medicine.  She has never had a chance to solely be on the Miralax and we want to know what kind of an effect that will have first.  We will reevaluate her in a few weeks and determine when we need to start her on the new meds.  It is most likely not going to be a matter of "if" but a matter or "when."  Unfortunately, this diagnoses can be a very painful one for Charlie.  The strength of the contractions and the fact that there is no rest is most likely why Charlie feels pain when she eats, and therefore does not want to eat.

The last component to all of this is that the belief now is that the true underlying cause of all of this DOES lie in her colon.  She most likely has a hyperactive stomach and small bowel because she has a hypoactive colon.   For the time being she can be managed on the Miralax and then she could potentially need to go back and have the colonic version of this test repeated in the next year or two to see if they can determine what the underlying cause is in all of this.  Could there be something there that is bigger?  Or something that could be fixed, etc.?

So, there you have it.  We now have a solid diagnoses.  Different from where we started, not sure if it is better or worse, but it is a real answer and we can stop looking and work on moving forward and making her comfortable.  This has been an incredibly exhausting week beyond words, but at the end of the day we can thank our lucky stars that we went through all of this to get to where we are.  How we got lucky enough to find this amazing doctor in our own backyard we will never know.  Our fingers are crossed that now that we know what is truly going on we can stabilize her eating situation, help her put a little weight on, grow a little and help her to stay comfortable.