Wednesday, November 28, 2012

Short(ish) Update - Brain dump #2

I got an email back from GI that said the high HR could have been from feeding, but not the temp. However, if Tomas had some sort of infection/illness going on he would expect the fever to go down with a decrease in feeds (a.k.a. - stressing his body out). As long as Tomas doesn't run any more temps of 100.4 or greater we are in the clear. Nothing since Mon. night so we are good to go!

Saw infectious disease today. This is the first time Tomas has been seen by that service as an outpatient. Went through history, previous test results, pending tests, and such. He was particularly interested in the Shwachman-Diamond syndrome possibility. He said that there is a slightly higher prevalence of the disease in the DS population, and that clinically Tomas meets the criteria for the disease. The 3 criteria for a clinical diagnosis are:
1. Chronic Neutropenia (not otherwise specified)- check
2. Chronic Anemia (not otherwise specified)- check
3. Exocrine Pancreatic Insufficiency - semi-check. This enzyme insufficiency causes malabsorbtion issues in the GI tract and particularly fat malabsorbtion issues. Tomas definitely has fat malabsorbtion issues but I've always assumed it was due to his gallbladder being removed, and as far as I can recall no one has checked for other reasons.
There is a 4th component of skeletal abnormalities but it is not seen all the time and is not a part of the clinical criteria for the disease. The doctor said that skeletal issues can also take years to appear (like delayed bone age)  so it is not considered a necessary finding for the diagnosis.
I don't know, it is not a perfect fit and I like for things to fit neatly. That's why I never thought Down syndrome alone could explain Tomas. I said as much but the ID doctor said that with the pancreatic enzyme insufficiency sometimes has to get as low as functioning at 10% of normal before it shows up, and it just may be that Tomas is still young and his pancreas is still functioning well enough to stay above radar. He went so far as to say he was going to go out on a limb and say Tomas has Shwachman-Diamond. Eh...every single diagnostic test Tomas has ever had has come back either negative or inconclusive so I really can't get to excited about this yet. In the bizare world of my son where having a diagnosis of Shwachman-Diamond would be something to get excited about that is!

As for the immune component - here's where things get complicated. I needed a picture, for real.

Ok, white blood cells are made up of a few different types of cells: neutrophils, lymphocytes, and a few others that don't apply for Tomas' case.
We know he makes plenty of neutrophils (because his bone marrow biopsies show adequate baby neutrophil numbers).
We also know he makes tons of lymphocytes (his lab results are always on the high end).
There are two main types of small lymphocytes - T cells and B cells. B cells are responsible for producing immunoglobins, which in turn fight off infections. Tomas has had his immunoglobins tested several times. He was deficient in one up until he was about 2. Since then his counts have been normal. BUT Tomas has never had his T cells tested, and as it turns out one particular type of T cell (called CD4 or Helper cells) is responsible for directing the majority of infection fighting white blood cells.
This is where the doctor wants to focus. He thinks that Tomas either has a CD4 deficiency or a CD4 malfunction. Without Helper cells telling them what to do the other cells don't know to fight off an invader, regardless of what the blood counts show. First up is to test the T cell count, then he will test their function. This one I am excited about as it would explain why Tomas gets sick so often, why everything in his bone marrow points to an autoimmune disorder, but the autoimmune testing is always negative.

Next up for the appointment was the bacteria Tomas is persistently growing in his urine. It is already resistant to one major antibiotic family, and the dr said it would likely become resistant to the antibiotic Tomas is on now, which is why he does NOT want to put him on prophylactic antibiotics to prevent any more UTIs. This totally stinks, since urology is not going to move on preventing UTIs until the urodynamics study - which is in January. Which leaves Tomas completely exposed to another illness/hospitalization. He did say that he felt the bacteria was colonized and that it likely is colonized in the stones, which makes them very hard to break up and typically they need to be surgically removed. Which is pretty much what urology said yesterday. He also said that IF Tomas should get another UTI that he would recommend putting him on prophylactics until the testing. I hate that approach - I can't even tell you how much - but it is one I've encountered over and over across every specialist Tomas sees.

See - this was a shorter update right?

Tuesday, November 27, 2012

Long Update

Still not much information coming in from Boston.

The GI report and manometry studies have not arrived yet. Tomas' regular GI doctor went ahead and ordered the switch from a G tube to a GJ tube based solely on my telling him that is what the Boston doctor recommended. He said, "Are you sure that is what he said?"
"Yup, not really sure about the why, but he definitely said to switch back to the GJ and add in Periactin."
All I was thinking was I am certain that IS what he said, but dear God please let the report come back saying that as well!
So Tomas got his GJ tube on the 20th and his doctor wanted me to get him to 20mls an hour over the course of a few days. He was doing just fine until this past Sunday when bile started draining from his G tube (the one that goes to the stomach). This is the same problem he had last time he was on the GJ and the reason the surgeon here in NY pulled it and put a straight G in instead. For now, the volume draining is tolerable, and hopefully with the addition of the new motility med it will stay that way. Yesterday, he was doing just fine at 25 mls so his nurse moved him up to 27, and again to 29 around 4pm. By 6pm he was feeling warm and when I took his temperature it was 100.4. That is his protocol temp for needing a blood culture. If he hits 100.4 I am supposed to get him cultured. Only problem is where can you get a blood culture done after 6pm? Right, not really wanting to go there. So  I decide to hook him up to his monitors and re temp in an hour, if it is still high I'll take him in. His heart rate alarm kept going off even though I increased his parameters to 150 and he was laying o his pillow in his crib, and his next temp was 100.2. So not good. Looking like I'll have to call GI and head down to the ER in the city. But as I am ruminating on this and breaking it to my darling husband, Tomas starts hiccuping. "Hmm..."says I, and hook up a drainage bag to his stomach while decreasing his J feeds down to 5mls/h. A few minutes later his HR is down to the 130s. Abut 20 mins later his temp is down to 99.7, a full hour later and his HR is in the 110s and temp is 99.1 and there are 50cc of green bile/bloody mucous in the drain bag. Success! We are staying home. Still waiting on a response back from GI on how to proceed. A phone message I left him this morning got muddled and he thinks Tomas has a fever and want me to get him cultured and even admit him if he is looking puny. I emailed him all the correct info and am just waiting to here back to proceed.

As far as the hematologic part goes it is quite the muddy water picture. After last Monday's lab draw at the pediatrician, Tomas' hemoglobin came back low and the pedi called the GI and hem drs. Hem/onc was noncommittal about whether to transfuse, but because Tomas had been running real fevers (101-103) off and on for a few days prior GI said to bring him in for a 48 hour rule out. I went home, packed and headed into the city for what was supposed to be a 48 hour stay (kind of like Gilligan's Island). When we get to ER his Hgb comes back critical low and he needs an urgent transfusion at 1am. For the love of heaven I do not understand why doctors play this waiting game. We got up to a room a little after the transfusion started and were still on track to leave on Wed. as long as no blood infection showed up. While waiting for things to (not) grow out the floor doctor was able to get a hold of the hematologist in Boston. The good news is that there are no signs of any myleodysplasia in Tomas' bone marrow, bad news is we don't know what is causing the neutropenia or anemia. Good news is the test for Fanconi's anemia came back negative, bad news is the pathologist found markers in the morphology consistent with Schwamann-Diamond syndrome. That test is still pending.
While waiting for his 48 hours to pass, the broviac ruptures and a repair is done at midnight (again - anyone see a pattern here?). While the surgical fellow is repairing the line he notices it has slipped out from its original placement and asks me about it. I tell him we have been following it with xrays and checkups for about a month now, but that it has slipped a bit more tonight, probably from all the messing with it. He says its no good and needs to be replaced. So Tomas goes in for surgery the next day (ahem..the one we were supposed to be going home on); line is pulled and new one is put in. The next day a doctor from the infectious disease team stops by the room to tell me that the bacteria that is growing in Tomas' urine is resistant to most antibiotics, which is concerning, and that his team wants to start following Tomas to try and figure out why he gets so many infections. Be my guest. The next day we get to go home - Friday - way more than 48 hours later.

If you are still reading you'll notice that the hospitalization was not for a bloodstream infection but for a UTI. Tomas has had 4 since July and maybe half a dozen total before that. When we lived in Dallas he saw a urologist and when we moved here they dismissed him. Over the summer some suspicious deposits were found on his kidneys during an ultrasound and kidney doctors went back and forth over whether they were stones or calcium deposits. The nephrologist ordered a urology consult and the urologist said he didn't feel Tomas needed to be followed unless he got another UTI. He's had two since that visit, and during this past admission a new renal ultrasound showed nondebateable kidney stones on both sides as well as some other minor renal issues. Which brought me back to the urologists office today.

He ordered a urodynamics study, which to the best of my understanding is a pressure measurement of bladder contractions and of flow rate through the urethral sphincter. The test will show if Tomas' UTIs are bladder based or not. If he has reflux from the bladder to the kidney it will also show. Tomas did have a VCUG (which is the basic test to show reflux) and it was negative, but the doctor said that about 15% of the time the test is wrong and that the bladder is only refluxing at high pressures - hence the reason for the urodynamics to verify. So 2 things can be seen and then fixed with medication after the study. 1. Bladder is retaining urine for too long - allowing pressure to build and then urine to reflux back up. 2. Urethral sphincter is not functioning properly and his bladder is not emptying all the way, allowing urine to sit in the bladder too long.
If the test should come out normal Tomas is in deeper trouble. So weird to say that! But if the bladder is functioning properly then the stones themselves are the root of the problem and the doctor said he would need to get them removed. The position of where they are (meat of the kidney) would make it difficult. It would involve placing a stent, a ureterscopy, and then eventual removal of the stent. I have gone through this process myself 7 times and can't even fathom my child having to go through it. The doctor is afraid the stones are colonized with bacteria (the one the ID dept. is so worried about) and that they will need to come out even if the urodynamics is abnormal. Best case scenario is abnormal study which leads to meds to make bladder work better which does flush out stones. Worst case scenario is abnormal study which leads to meds which make bladder work better but DO NOT flush out stones - in which case he would still have to go in and get them.
As for what is causing the stones he thinks it is a combination of a medication Tomas is on (Diamox) and dehydration. This is such a mess of an issue. The Diamox is to treat for intracranial hypertension. It is a diuretic and has already led to a major increase in his fluid needs. We have tried taking him off it, or even reducing his dosage, but his spinal pressure shoots right back up to the too high range every time. So other than a shunt there aren't any options - and while neuro mentioned a shunt like it was no big deal I am no where near ready to go there. I can't even begin to imagine the extra infection risk we would be adding in. Meaning Diamox is here to stay.
For dehydration, the urologist wants me to add in 8oz of free water a day. It sounds like such a small amount doesn't it? 8oz=240mls; if I split that up over 10 hours it is only 24mls/h. But remember up in the beginning of my post - that 29mls/h were causing stress responses in Tomas, imagine if I added another 24 on top of it? I honestly don't see how it is going to happen. I do think I can get another 10-15 mls in through his G port every hour (that I am awake) but that only gets us half way there. The other half will likely have to be added into his TPN, which isn't as effective since it only runs 18 hours a day; leaving six hours of too dry Tomas. At some point we may need to move him back to 24 hours but for now we will see how far we can get.

Tomorrow is the appt. with the infectious disease doctor so my brain needs to do a major dump (aka blog post) in order to make room!

Sunday, November 11, 2012

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.

Thursday, November 8, 2012

Down Syndrome Awareness month wrap up 2012

Forgive me for being a little late with my Down Syndrome Awareness month wrap up, but alas, I am a procrastinator extraordinaire. Another year, and another hospital cribside wrap-up. This time at Boston Children's Hospital waiting to get some specialized motility and hematologic testing done. Tomas goes under anesthesia this afternoon. His team of doctors is incredibly knowledgeable and have some ideas on what is going on with his blood and guts (sorry couldn't resist). None of the ideas are particularly good, but even having a thought about what could be happening is a step forward at this point. Because you can't fight monsters you can't see.

Many of you - most of you - know I am expecting. I am 7 months along. I have been to a gazillion appts already and get an ultrasound every month. I have had buckets of blood drawn, and so far so good. Everything is dead on normal. All labs and all measurements are coming back just perfect. When people ask me about the pregnancy and I tell them this, the inevitable response is something along the lines of, "Oh, good." or "What a relief!" But it feels so awkward to me, like a betrayal. Like even saying yes it is a good thing the baby is normal somehow belies that I think it is a bad thing that Tomas is not. My husband (or anyone else for that matter) doesn't agree with me. They think the last thing we need is another medically complex child. But all I keep thinking is no one would have EVER said I needed Tomas.

But I did. I needed his absolute helplessness so I could learn the value of living a sacrificial life. I needed the absolute lack of control that comes with never knowing how even the next hour will turn out, so I could learn to let go and savor this moment. I needed the maze and labyrinth that constitute the American medical system so I could learn patience. And dear sweet Jesus, I needed that smile. The one I watch him use, despite his sometimes very painful life, to set the people around him afire. I think about how I viewed the world before, and what has changed for me, and I think, "I needed him." There is a mercy and compassion and grace in me that did not come from the things we call normal. These gifts were opened to me because I needed them to be able to care for Tomas.

You want to know what real feminism is? Walk into your closest children's hospital and watch those mothers. Watch for a long time. You have never, ever, seen anything like it. Those women are forged of a strength built from the ashes of dreams and the agony of reality, and they are more powerful then I could ever have imagined one single person could be. And the truth is that strength is only a shadow of what lies in need next to that mom. That tiny sick person contains all the honor and power and glory that the God of all things could contain in a non divine vessel.

And my tiny sick person guided me to a place where struggle is a constant and heartache is a given. To this land of laying my mommy heart open, of choosing between fear and courage; to fight God or to trust God. So I know that this new daughter will be exactly what I need, what our family needs, no matter what wrapping she is sheathed in. Because that is what Down syndrome has taught me - to "Be not afraid."