Boston Recap

Tomas was seen by two specialists at Boston Children's Hospital last week - one for GI/motility and the other for hematology.

First up was hematology. The entire visit led off with the question, "How is he doing?" I just never know how to answer this. "Fine." "Ok." "Not well." None of it is enough or all encompassing and yet I know people aren't looking for a 4 minute response. My answer as of late for the medical community is, "Acutely well, but chronic issues are worsening." This is working out nicely for me as the asker usually pauses, looks me in the eye and gets the idea I am not there for a wasted visit.
I did not need to have that concern with this hematologist though. He was ready, and interested and quickly landed on the top 5 list of the most intelligent people I've ever met. Tomas' main issues with blood are the chronic neutropenia and a recurrence of the anemia he dealt with as an infant. Ironically, the low platelets that caused so much strife during his NICU days have not been an issue since. This doctor thought that Tomas is presenting as a classic case of bone marrow failure if you only look at his labs. The trouble lies in that Tomas' bone marrow biopsies are not bearing this out. His cell line precursors (baby cells being made in the marrow) are within normal limits. But then there is this annoying problem that they don't materialize into the bloodstream. Initially, everyone wanted to jump on the autoimmune bandwagon and blame it all on some kind of cell destruction problem. However, all his immune labs are dead on normal, and that is what bought him the appointment to the specialist in Boston in the first place. Thankfully, this doctor did not even try to go that route and is fairly certain there is something going on at the marrow stage. He thinks Tomas still has some form of the myelodysplastic syndrome he had as an infant, even though it hasn't shown on any recent biopsies. This is something akin to a spectrum disorder in that it can manifest itself as simple bone marrow failure which can be managed with injections of growth stimulating hormones directed at affected cell lines (in Tomas' case Neupogen to stimulate neutrophils and Epogen to stimulate red blood cells) straight on up to a full meylodysplastic leukemia. Unfortunately, the only thing we know for sure right now is that it is not a straight marrow failure, meaning Tomas is not on the easy to manage side of the spectrum. The doctor thinks that perhaps there is an imprint left on the cells from the infancy days which is messing with his blood counts now., or perhaps he is slowly transitioning to AMKL ( Acute megakaryoblastic leukemia). I asked if it was possible to transition so slowly, he said it is rare but not impossible. He ordered another bone marrow biopsy and aspirate, and a skin biopsy - both of which were taken while Tomas was under anesthesia for some GI testing. I should get the results sometime next week. He also asked me to sign Tomas up for the Pediatric Myelodysplastic Syndrome and Bone Marrow Failure Disorder Registry and Tissue Respository - a research project the hospital is running. Once we get an idea of where Tomas is on this whole "spectrum" then the doctors can decide how to move forward. In the meantime, his hemoglobin is in the mid 7s and he is awaiting another transfusion.

Next up was the GI visit and then an admission for testing. The first day was the visit with the doctor and the inpatient bowel clean out. I'll spare everyone the details on the clean out and the go-rounds I had with the residents on what would/wouldn't work. It all ended with a clear bowel and a resident who said, "He proved a difficult young man to clean out." Well, you don't drive 4 hours to go to a motility specialist because a bit of warm prune juice does the trick! At least I'm not bitter, lol.
The second day was the anesthesia, an upper endoscopy and a colonoscopy (as well as the biopsies or hematology). He did great for the anesthesia. The look at his stomach and small bowel showed they were normal. The GI doctor said he spent a long time looking at the old atresia sight to make sure it was not problematic, but that he could find nothing wrong. Great news, because I thought if there was going to be an anatomical problem it would be there. The lower scope showed that Tomas' colon was dilated, not so great news. During the post-op discussion the doctor said that he was considering recommending a temporary ilieostomy (disconnecting the small bowel from the colon - using a stoma and bag to collect waste straight from the small bowel - and allowing the colon to heal for 1-1.5 years before attempting to reconnect) but that he wanted to wait until the next day's tests first.
The third day was the actual manometry study. While the doctor was scoping the bowels he placed two catheters each one with multiple probes. The upper catheter had probes located throughout the stomach and small intestines and the lower catheter's probes were in the colon. In the morning Tomas got his catheters hooked up to a machine that measured the frequency, duration and intensity of bowel contractions. The test lasted 7 hours and included a fasting state, a fed state, and a medicated state. Tomas pretty much shut down for the day and thankfully slept or watched Veggie Tales for the whole thing. He did not want to be moved so we just kept him as comfortable as possible with pillows and blankets and lifting the head of the crib. By the end of the day the doctor came in to tell me that what we were seeing on the manometry screens was the opposite of what he saw in the scopes. The colon was contracting just fine, but that there were uncoordinated movements between the stomach and small bowel. His initial recommendations were to switch back to the GJ tube, and add in a motility drug called Periactin. He said that there was a possibility based on the readings that there was a stricture between the stomach and small bowel which would need to be surgically corrected but that he would need to study the results more in depth before he could be certain. He also said that at this point he was not recommending the ilieostomy as the colon was contracting in a normal fashion but that in some cases it made sense to do it anyway if other treatments weren't working. he ended with his opinion was that it would be possible to get Tomas off TPN.
It is hard to put into words how I feel about this. Hopeful, certainly, this is the first time since last year that we've had a cohesive plan to attempt a TPN ween. But also so apprehensive. We've tried periactin before, back in Dallas, while Tomas still had a GJ and it didn't work. He was inpatient for the trial so even the doctors got to see it was ineffective. So while I am grateful it doesn't look like any major surgery will fix things, I am also not so sure things can be fixed. This will all be laid at the feet of Tomas' regular GI doctor and we will go from there. I will of course TRY anything.

That night we were discharged at 5pm, and I had a 4 hour drive on top of almost no sleep for the previous 3 nights.  I was so tired an considered staying at a hotel, but the thought of having to unload Tomas and gear by myself an reload Tomas and gear by myself again in the morning pushed me forward. I called many a friend that night and if I spoke with you that evening know that you were my angel's wings. We arrived at the house at 10pm and my husband met me in the driveway to take care of everything. I climbed the stairs, changed and belly flopped (get it? - 7 months preggo?) into bed to sleep for 8 straight hours. Bliss!

The coming week should be very informative - so stay tuned!
Oh and some pics from before we left - he uses his tushy to clean the white board.