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?

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!

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.

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."

The Big Players part 5 - Neurology

Sorry for the delay in the final post of bringing everyone up to date. I was trying to wait until I heard back from some doctors so I could write with certainty, but that is not to be for a while yet. So for now much of this is still up in the air.

Neurology is a new service for Tomas, but it shouldn't be. I had tried for almost a year to get an appointment with the clinic here in NY. Periodically making calls to the clinic and complaints to whoever would listen, but his neurological issues just weren't severe enough to warrant any urgency on their part.

Or so we all thought, including me, which is why I never went bonkers on anyone trying to get an appointment. Up until early July we all thought he had some fairly minor neurological issues; mild ventricular atrophy (a small degree of shrinking in the left and right ventricals), pons hypoplasia (underdevelopment of the pons), a benign arachnoid cyst and of course the largest of his "minor" issues, the intracranial hypertension.
The intracranial hypertension was found last August during an eye exam when doctors were checking for fungus balls throughout his body during a severe illness. Tomas had so much fluid build up in his skull that it was pushing on his optic nerves and causing swelling in his eyes. Left untreated that can cause blindness. But thankfully it was discovered, an emergency lumbar puncture was done on a Sunday - the second time in his little life that day surgery has been opened just for Tomas and staff was called in just for Tomas - which measured his spinal fluid pressure (it was very high) and also relieved his swelling by draining some fluid. Many tests were run but no cause was found (of course) so he was given the diagnosis of idopathic intracranial hypertension, started a medication to regulate his cerebrospinal fluid production, and referred out to a neuro-opthalmologist to treat and monitor his eyes. Once the eye pressure was regulated, the neuro-opthal wanted to hand the reigns of the management for the intracranial hypertension over to neurology, so I began in earnest to push for an appt. Which brings me back to last month and Tomas' first visit.

During the appointment the doctor was very thorough, went through all of Tomas' issues with me and went over his illnesses and hospitalizations as well. She said that it was crazy that metabolics had cancelled the testing for a ketone utilization defect because it sure sounded like a beta-oxidation defect to her. I know, lots of words, but this diagnosis would explain his hypoglycemia and possibly his liver issues and has been on the table since March of 2011 with zero progress made. Neither dismissed or confirmed. So as we were wrapping up she agreed to do some further testing into the mitochondrial disease arena and just wanted to review his MRI from last August.
While she was looking at the screen she got very agitated and upset and showed me why. Tomas had a very small cerebellum, with little to no visualization of the vermis on the film. I had no idea what that meant and told her. I didn't even know there was such a thing in the world as a vermis (it connects the cerebellum to the spinal column). Turns out this is a big deal and she was very upset that it wasn't flagged on the MRI, according to her it is very obvious, there is a bunch of black space around the cerebellum that shouldn't be there. She scrolled down to see who read the film and it wasn't a pediatric neuroradiologist, and her best guess is they were looking for something else on the film and just didn't read it thoroughly. She's right - the MRI was done during his fungicemia/septicemia hospitalization and the doctors were looking for stroke like activity.
The cerebellum is in the hindbrain and controls a lot of muscle coordination. Because the pons is also in the hindbrain (and his pons is small as well) she is concerned that there is a significant issue in his hindbrain development called pontocerebellar hypoplasia.
Right now there are two posibilities for why the cerebellum is so small; either it never developed correctly in the first place, or it has shrunk. The only way to know is to repeat the MRI and get a copy of his 2009 MRI from the Dallas hospital. Comparing all three will give her an idea of whether the cerebellum is staying the same or getting smaller. Underdevelopment would be the kinder of the two, as a shrinking of the hindbrain would point to a degenerative disease. In either case though, this is most likely the explaination for why he is not talking or walking yet.
The doctor said that without a fully developed cerebellum communication between various parts of the brain and nervous system can be severely affected and can cause something called ataxia, or uncoordinated neurological responses. Muscle ataxia will affect movement and speech ataxia will affect language. She said that given his status right now, gross motor skills may or may not develop further, much of that will depend on whether this is a degenerative disease or a malformation. She also said at this point speech may not be attainable, that the level of coordination needed for language far surpasses that of motor coordination and we should set up realistic goals for Tomas with his therapists.
When I got home and did some research a friend sent me information on a research program at the University of Washington in Seatlle on hindbrain malformations. I sent the group an email and they agreed to review Tomas' films. And that is what I am still waiting on, everyone's opinion on whether this is a malformation or progressively degenerative disease. The NY neurologist is on vacation until the end of this month, and the Seattle group could take months to get back to me.
So we wait knowing only for now that his hindbrain is significantly smaller than the rest of his brain. Knowing that there is a possibility he is fading from us, and knowing that even the best case scenario means his struggle to walk and talk may not be something he can overcome no matter how much help we give him.

Back to the basics: The big players; part 3 - The GI tract (a.k.a. the root of all evil)

I don't even know if I have enough energy for this post - or brain cells.

During my pregnancy the maternal fetal doctor found a birth defect that made the Down syndrome diagnosis insignificant; Tomas stomach and intestines had never fully fused together and he would need urgent surgery shortly after birth.

When he was just 32 hours old Mike and I said goodbye to our oh so small son in the hallway outside the OR  and began the journey that now engulfs us. Three and one half years later we know a whole heck of a lot about how a GI tract is supposed to work, and very, very little about why Tomas' doesn't.

His liver wasn't working when he was born, it is now, but intermittently flares up with disease. He has had one liver biopsy which showed pericholangitis (swelling around bile ducts) and is having another one sometime in August.
His stomach refluxed food back up into his throat which then fell back down into his trachea; he had surgery (Nissen) to fix that at 6 weeks and again at 14 months when it came undone.
He had gallstones at 10 months old and his gallbladder removed when he was 15 months old due to chronic infection.
He had part of his stomach herniate up into his chest cavity and push on his heart, part of his liver herniate and push up through his diaghram, and part of his bowels herniate through his abdominal wall; all surgically corrected at 14 months old.
He doesn't swallow well, although this is slowly improving. He has little interest in food, but this is also SLOWLY getting better. That is the main reason he (still) has the feeding tube, because he can't swallow enough without aspirating on it, and because at this point he has never eaten by mouth and could never take in enough calories that way to sustain himself.

There is more to it than that though. Even if he would or could eat enough orally he would still have trouble. Food just doesn't move well through his lower GI tract. Sometimes it sits in his stomach, sometimes in his upper bowels, sometimes his colon. And heck, sometimes moves BACKWARDS. Again, no clear reason why. We do know it is not a anatomical issue - since his early abdominal surgeries his anatomy is correct and there are no blockages or anything else physical to prevent food from moving through. It just doesn't. His nerves and muscles don't coordinate digestion. Whether that is a nerve damage or neurological issue remains to be answered.

So that is why he is on TPN. As I mentioned in the blood post, in 2010 Tomas began losing weight at an alarming rate. He never had any stellar weight gain and certainly had his share of GI troubles before than, but that is when it all began snowballing. He caught a virus in March of 2010 and things went downhill fast. In many cases like his a virus is the trigger for an underlying/dormant issue (much like Autism can be "triggered"). By summer of 2010 he had lost 30% of his body weight, and his nutritionist and GI decided to put him on TPN to let his GI tract rest and give his body the nutrition it so desperately needed.

For the next year his GI here in NY has been trying to wean him off the TPN with a combination of pro-motility drugs (including one that is not available in the US and has to be brought in from Mexico), elemental formula, and a very involved feeding schedule. At its very best, Tomas has been able to take in 600 calories a day through his stomach, and his average is around 400. Just not enough to live on, much less grow and thrive. Part of what is new and what is changing is that during our last clinic visit the doctor said that Tomas is just not going to get off the TPN, and we all need to come to terms with that.
That means we are switching gears; no more urgency to get rid of the TPN before it ruins his liver. That is what TPN does, over time it damages the liver and eventually leads to liver failure. Sometimes it is a few years, sometimes it is many years. But it happens, and in Tomas' case the doctor said we should expect it in a shorter time frame since he has pre-exisitng liver issues and multiple other issues. TPN is life saving and life taking all at the same time. It prolongs life, had he never started on it one or more organs would have failed due to malnutrition. Since he did start on it (and can not get off it) one or more organs will eventally fail. This is the first time any doctor and I have had a serious conversation about Tomas' condition being life shortening.

Now the urgency is to understand his diagnosis. This news, along with his neurological issues, is the drving force behind pushing for that diagnosis. So we can effectively treat him to the best ability of medical science. The GI doctor wants to do a liver biopsy, muscle biopsy, and a botox injection to his anal sphincter. He plans to combine procedures with the neurologist and hopefully get everything done by mid-August.

Much of how we proceed will depend on the results of the biopsies and on what neurology (next post) has to say.

The Finale

At nearly 11 pm the senior resident walks in and says that the on call nephro wasn't sure what was going on, so I asked him to call the attending.
"It's 11pm"
"Uh, huh -Look, this morning I was told that Tomas' ph was high because his kidneys were dumping acid in order to offset the high bicarbs in his lung, thereby preserving his balanced blood ph. This was a good thing since it meant his kidneys were responding appropriately. His bicarbs were high because his potassium was low. His potassium was low because he had decreased G tube intake and increased G tube output. Well, we fixed the potassium, he is eating through his tube, he isn't dumping gastric fluid and his potassium is dead on normal. Why did his urine not normalize? Do you understand why this makes no sense to me?"
"Ok, let me get her on the phone"

He calls her on the phone and gives her a quick run down. That I needed more information on todays labs.
"Hello Mrs. Hernandez, what can I answer for you?"
"Hello Dr. X, actually what I need cleared up is why we waited here for Tomas' UA results; what were you expecting to see?'
"I was hoping to see a resolution on the urine alaklinity. The assumtion was his urine ph was high due to the high bicarbs, I was expecting to see that go down since we resolved his electrolyte imbalance. Since that didn't happen, we now need to look for another cause. The first step was to see if it self-resolved, which it did not. The second step is to see if this is due to medication. He is on two that can cause this issue, the more likely one being his Prevacid. My next step is to send him home on half the Prevacid dosage than he was taking before. If that doesn't bring his ph down to under 7.5 then I will have to investigate further into the kidney as a culprit, which I hope not to be the case."

"Ahh..that was the piece of the puzzle I was missing, thank you very much. I will need a new script for the Prevacid dose before we leave though."

"Don't you have one?  I wrote for it in case the urine was unchanged."

"No I don't think the night team is aware of your orders."

"I am so terribly sorry, Mrs. Hernandez. Now I understand the confusion and why you needed to speak with me. I thought I had made myself understood at the team meeting this afternoon, but apparently not. May I speak with Dr. Senior Resident please."

"Of course, thank you Doctor and have a good evening."

The senior resident took the phone, walked out of the room listening the entire time, about 10 minutes later the NURSE came in with the script, discharge orders, and a great big hug telling me she was eavesdropping and cheerleading in the corner the entire time.

PART 2: A brief interruption on Tomas' biology; in which I make the resident doctor wake the attending at 11:00pm

Shortly after the resident left (and she did not come back) the night nurse walked in. I told her about the lab values and she said that made know sense; what she was told at shift change was they were waiting on an improvement in results before he could go home. That's what I took away from the morning rounds as well, so nice to know I am not yet certifiable.

Forty-five minutes later (now roughly 10pm) the senior resident walks in.
"So are you ready to go home?"
"What do you know about what is going on with Tomas?"
After a microscopic pause, "Well, that we were waiting on an EKG to get read, for TPN to be delvered to your home, and for the results of the urinalysis. I'm sorry that all took so long."
"The TPN was delivered around 5, the EKG was confirmed already read at 6, and the rest of this time we have been waiting to see what the results of the UA were, why?"
"We wanted to make sure he wasn't getting any worse."
"That is not at all my understanding of what the doctor ordered. She told me this morning that she wanted to make sure his lab values were trending down and that he was getting better before she let him go."
"Well, someitmes the lab values aren't perfect and they can be off a little here and a little there and sometimes as much as by half a point."

I told a friend that this is like dealing with a used car salesman. You ask how many miles are on the car and they tell you about how great it handles.

"So if I understand you correctly, your lab - the one I trust to run my son's bloodwork isn't necessarily reliable? Not to mention the fact that if you are trying to make me think that, in fact, his urine ph could at this moment really be an 8.5, could it not also be a 9.5; or does the lab only make errors in one direction? What I need to understand and make sense of before I take my son home is why we waited all day to make sure this lab value was trending down. It is not, and aside from the passage of time nothing else has changed so why is it ok for him to go home. What is different."

"You've got me."
"Well, do I "got" everyone in the hospital? Is there not one person who can explain this to me?"
"I could go call the on-call nephrologist back and see what they say."
"I think that is a good idea."

and so exits player two. I have to go again - this time to go pick up my girls from day camp and watch their end of the week show. Be back for part three later. No news on this mornings labs yet.

A brief interupption on Tomas' biology; in which I make the resident doctor wake the attending at 11:00pm

On Monday Tomas went in to his pediatrician for his routine lab work. I got a phone call later that day telling me his potassium was really low and they wanted repeat lab work the next day. On Tuesday I took him back and get a phone call a few hours later saying his values were still really low and he needed to be admitted.
I hang up the phone and push my "Admission: red alert" button. Lights flash, sirens blare. Childcare for the girls instantly appears, bags fly out completely packed from secret compartments in the walls, gas tanks fill up automatically, TPN bags and feeding pumps magically and compactly fling themselves into their respective backpacks then march in line along with everything else to settle themselves nicley in the trunk of the car.
A girl can dream can't she?
Anywho - a friend was able to keep the girls until Mike got home from work, and I not so magically or effortlessly did the rest. Get to ER...blah,blah,blah...red folder code 2 (code 1 is not breathing or bleeding to death and the red folder is for kids with issues)....just once couldn't we be a green folder code 4 maybe? Instant triage, reverse pressure room, labs, IV, bradycardia, stat EKG, blah, blah, blah. Potassium through an IV really burns and and so do I later when I find out they could have run it in with his TPN through the central line and have him not feel a thing.
Get moved upstairs at 2 in the morning, get a lesson on blood alkalinity and urine alkalinity and potassium and bicarbs and dear God when did I fall asleep and why is it already 6 am and someone else is trying to talk to me?
Wednesday was spent trying to stabilize him, but in true Tomas fashion he made them work for it. After two IV boluses and 1 G tube dose of potassium his levels are pretty close to normal so he is left alone. Now to figure out what happened. Could be this or this or that. I love this game, it follows me around like a shadow. A black death bringing, life sucking, spirit quelching shadow, but hey, at least I know how to play. GI says this, nephro says that, and eventually we have a plan for discharge and for maintenance and a way to keep him stable at home, but no idea what the hell happened in the first place.
Thursday morning comes and we are ready to leave. New TPN formula is sent to home insfusion and set to be delivered that afternoon. Appts. are made with pediatrician to check labs next day, new scripts are written, GI writes discharge orders and bags are packed. Not so, says nephrology. his urine PH was too high on Tuesday and Wednesday and we need to re-check it to make sure it is better before he can go home. Ok, get a urine bag on him and wait, and wait, and wait, because umm....I've said this 100 times - he hardly pees when the TPN isn't running. Finally, he did pee, urine gets sent off and @ 9pm the resident comes in.
Happy faced, because isn't it great that we get to go home, "Mrs. Hernandez, I'm just finalizing your son's paperwork and then you can go."
Me - "What about his urinalysis that we've been waiting on all day."
"It came back a little high, but nephro said he could go."
"What's a little high?"
"9"
"Well, what was it on Tuesday and yesterday."
"Also 9"

I have to stop here because she said that with the most serious and professional of faces. Like it made perfect sense. Like somehow the passage of 8 hours made a value of 9 go from being enough to keep my son in the hospital to being and acceptable value with which to go home.

"I don't understand how that can be since the whole reason we've hung out here all day was to make sure the urine ph was going down."
"Well, we talked to nephrology and the senior resident said it was ok for Tomas to go so I'll go get your paperwork."
"Why don't you go get your senior resident instead."

To be continued...have to take Tomas to pedi for labwork. I LOVE THIS GAME!

The big players; part 2 - endocrine/metabolics; tomato/tomahto

This is a mixed bag because he has two endocrine issues, well sort of. The first one, which is definitely endocrine, is hypothyroidism. Tomas has congenital hypothyroidism. meaning he failed his newborn screen and has been on replacement hormone (Synthroid) since NICU.

At his last appointment I told his enocrinologist that during an inpatient stay the rounding team had mentioned that when a child turns 3 they like to trial them off of Synthroid and see what happens. That sometimes it is not a true congenital issue and the children do just fine on there own. She said while that is true, Tomas' levels are normal on the Synthroid (meaning he is not getting too much), he is on a fairly large dose for someone his size, she increased it not that long ago because the smaller dose wasn't sufficent, and that it was discovered during his newborn screen - so truly was congenital. Ok, I tried, but it really isn't that big of a deal, just make sure he gets his meds and like I said his levels are stable.

This would've gone in the minor catagory if there wasn't another endocrine issue to write along with it. Well, maybe it is an endocrine issue and maybe it isn't. The metabolics team says it is; the endocrine team says it isn't. It is the bad boy Hypoglycemia (low blood sugar). Everyone else (all the other docs) think it is metabolic as well, but since I don't know where else to put it, here it stays. And until recently it was the single most urgent issue we dealt with.

If Tomas fasts for more than 4 hours his blood sugar starts to drop. That doesn't sound too bad, right? Most of us eat something at least every 4 hours, right? Nope we don't - we go to sleep, prayerfully for a lot longer than just 4 hours. Plus, if we had to skip a meal we could. Typically a toddler can go at least 18 hours without getting sick from not eating (hungry yes, sick no). Tomas can't. His body is either running out of sugar stores or unable to use them. He begins to make ketones as an alternative fuel source, but doesn't use those effectively either. They build up in his bloodstream, and since they are an acid, if enough time passes without intervention his blood ph changes and he goes into a state called metabolic acidosis. Without intervention this could be fatal.

Notice all the "without interventions" in there. For the first year and half of his life Tomas never fasted, he was always continuously fed. Remember he had his feeding tube since he was born. There was a brief 2 week period where I was able to nurse him (when he was a month old) but even then he was nursing through the night. So up until the spring of 2010 he had never gone more than approximately 2 hours without food.

One night that spring his feeding tube came out, the entire button dislodged from his stomach. I was exhausted and could not bear the the thought of driving to ER in the middle of the night. So I put in another tube, but not one that fed into his intestines - just his stomach. Because I didn't think his stomach could handle his regular formula I just ran pedialyte until morning. That was when we found out about the hypoglycemia, and I found out pedialyte doesn't have nearly as much sugar as one would think. By the time I got him to ER he was lethargic and unresponsive; a rag doll. His blood sugar was dangerously low, and thus began another road of test after test after test.

To date no specific reason has been found for the hypoglycemia. He has had 4 fasting studies done and during all of them his endocrine response (in the way of cortisol and insulin levels) have been perfect. Which is why endocrine insists it is not their problem. Also during all 4 he has had various levels of ketones in his blood and urine, sometime high enough to change his blood ph, which is why everyone thinks it is a metabolic condition. Not so says his metabolic doctor - because the ratios of blood/urine ketones are not consistant she thinks it is due to a hyperinsulin response - except - not once has his insulin level been high - so kind of hard to buy that theory.

After going round and round between the two clinics, after 2 hypoglycemic seizures, and after countless phone calls from me to the GI doctor (because he is in charge of Tomas' nutritional state) telling him that Tomas' blood sugar was really low again, that doctor had pretty much had it. He started Tomas on the gold standard for metabolic hypoglycemia - cornstarch.

Yup, your grandmother's Argo cornstarch is simply magic. Not only can it make a kick ass gravy, but it can keep a kid out of a coma. The reason the hypoglycemia was such a problem for me as his caregiver was that because of liver issues (another post) Tomas' TPN only ran for 17 hours, leaving a 7 hour gap without a steady stream of sugar. 7 is definitely more than 4. How to compensate? Well, mostly with G feeds (formula into his tummy). Unfortunately, most of the time he wasn't tolerating enough volume at a fast enough rate to keep his blood sugars stable, and some days he simply couldn't take anything in at all (another post). This left me or his nurse scrambling to get sugar into him somehow. Sometimes we'd try orange juice, but if he can't take formula orange juice usually didn't sit so well either, and other times pedialyte mixed with sugar. Finally, the GI doctor ordered IV sugar water (D10) for us to run during the TPN down time when his sugars started to drop. That worked great unless the central line wasn't working. And if you are on FB you know his central line stopped working a lot. Then it became urgent to get to the hospital and get a regular old IV started. So, after one too many hypoglycemic episodes the GI trumped the metabolics doctor and started the cornstarch therapy. It gets mixed in with his regular formula twice a day. Cornstarch is a very long chain carbohydrate and therefor takes a long time for your body to break down, causing a steady stream of carbs (aka - sugar) to be released. 

And the most amazing things happened. It worked - we were all so unsure of how his GI tract would handle having to digest something that required that much work. He still has days (and days and days) where he can't take anything in through his stomach, but the cornstarch has not made it any worse. His blood sugars went from being in the 40s at the 7 hour mark to being around 100. Just absolutely perfect. And another amazing thing happened - his liver enzymes normalized (another post), meaning that all the liver damage we were seeing, which we thought was from the TPN, was really from his body being in a metabolic crisis so often. Which brings me to the last miracle cornstarch brought about - GI and neurology are now convinced Tomas has a metabolic condition. I have no idea what the metabolics doctor would make of it as I have simply stopped going to her. But this was a major component in the "let's get a diagnosis" push that is now on the table, so for that I am very, very grateful.

The big players; part 1 - Blood

When Tomas was born he had something called Transient Myeloproliferative Disorder (TMD for short). It occurs in around 2% of DS babies, and significantly less in the general population. It is very similar to a leukemia in that the bone marrow produces blasts (immature white blood cells) in much to high a ratio and crowds out any room for other healthy cells (red and white blood cells and platelets). His platelets were dangerously low throughout his first month and he recieved many a transfusion to try to stabilize that situation. Sometimes it worked and sometimes it didn't. Finally, that cell line recovered and he was able to come home. Soon afterward his RBCs started to decline and he needed 5 transfusions of red blood cells before he was 4 months old. But, also, finally that stabilized as the TMD began to fade away.

For many months after that he was simply monitored by an oncologist to make sure the TMD stayed away and to watch out for signs that it might transition to a true leukemia, something that still has a 1 in 3 chance of happening. To date, though, his bone marrow is as healthy as can be and is producing the perfect amount of cells and in their respective proper ratios.

However, during this monitoring phase one particular type of white blood cell kept coming up low. His neutrophil count was sometimes very low, sometimes a little low, but rarely normal. He was given the diagnosis of Chronic Benign Neutropenia and underwent various test to determine the cause. None was found. His marrow produces the right amount, they just don't get to stay around. Initially, everyone thought it was an autoimmune disorder - his body killing off his own cells - but no evidence of this has been found.

Chronic Begnin Neutropenia is a misnomer of epic proportions. The begnin part simply means it is not part of a malignancy - he is not neutropenic due to cancer. His oncologist in Texas put it perfectly, "It should be called Chronic pain-in-the-patooty Neutropenia." Having very few neutrophils to fight of bacteria leaves a body mighty susceptible to illness. And that is what happened, respiratory infection after respiratory infection; antibiotic after antibiotic from the time he was around 6 months old until he was around 2 1/2.
Most of his hositalizations during that time were from respiratory distress, they were normally pretty quick stays since we just needed to get him stabilized and had all sorts of meds and equipment at home.

What changed at 2 1/2? He had his first central line placed. A port in order to run fluids during his intestinal shut downs (another post). We were warned that the risk for infection with an internal device was significantly higher than without, add neutropenia on top of it and you were sailing in dangerous waters indeed. But we had not much of a choice. At 2 Tomas weighed 26 pounds, by 2 1/2 he weighed 20, we were literally watching him waste away. So we went forward.

The best explanation I heard of why the infection risk is so high is this: we all have bacteria floating around in our bloodstream in small amounts, the stuff is everywhere. Normally, our bodies defences (the primary one being neutrophils) kill it off. Day in and day out this little war goes on in your (incredibly amazing) body. Putting something foreign in the bloodstream (like a port, or a catheter, or whatever else) gives that bacteria something to cling to instead of the free floating it normally does. This gives it the opportunity to colonize and grow. Couple that with an insufficient neutrophil reponse and you get the nightmare we now live. Bloodstream infection after bloodstream infection. He has had a central line for a year now and has had 12 infections. Most of them have been contained to just the central line itself - the bacteria hadn't "broke free" into his circulating blood yet. A few of them have done just that, and those are the times we nearly lost him. Which brings me to March of this year.

After his 10th infection his oncologist sat me in her office and told me that he couldn't continue to fight like this. That his GI doctor was very concerned over the number of infections Tomas was getting and that he wanted her to do something about it. Her dilemma was this, the only treatment for neutropenia is an injection of a growth colony stimulating factor hormone (GCSF for short). This hormone has been linked to not only stimulating neutrophils but also blasts. The blasts from leukemia? Yup, the same. Some patients who had taken Neupogen (brand name for GCSF) had developed leukemia. She had no idea what his risk factor would be given that he already had TMD, and already had a 33% chance of transitioning. There was no literature on it, we were in uncharted waters.

Again, our choice wasn't too tough. Watching him fight and fight all those infections and late-night wondering if the next one was going to be the one he couldn't come back from propelled us forward. So in mid-March he had another bone marrow biopsy to establish a baseline and he started the injections. Because the doctor is so concerned and very cautious she began with one injection weekly. Typical children get one a day. For 4 months we tracked his neutrophil count and the effect the injections were having. It would boost his count to normal on injection day and for several days afterward. By day 4 his count was back below normal, and usually down far enough to be in the danger zone.

A few weeks ago, after the UTI scare, the doctor asked me how I thought it was working. I told her things were a bit better, he had only 2 infections in 4 months, where before he was averaging one every 4-6 weeks. But I felt like the dip he took after day 4 left him vulnerable and also left the question unanswered. Was the neutropenia the cause of the high rate of line infections? I felt like as long as he was still in periods of moderate to severe neutropenia we weren't eliminating that as a variable. She agreed, and we started twice weekly injections with the goal of keeping him over the moderate cut off number (ANC of 1000 in case anyone knows). There is no way an ANC of 1000 would leave you at risk for sepsis, so as long as he stays above 1000 even if he does get an infection, we will know it is not because of his neutropenia. After a 6 month tracking period we'll evaluate how many infections he's had and then go from there. He was already getting a bone marrow biopsy every 6 months to monitor the TMD risk and that will suffice to monitor for the GCSF as well.

Also, squarely in the blood body system department is Tomas' anemia. After those intial blood transfusions as an infant his red blood cell count had been completely stable. He did have a severe iron deficiency anemia when his nutritional status went to pot and he lost all that weight (a chronic GI bleed didn't help either), but iron supplements were sufficient treatment. Then in September of last year his RBC count and hemoglobin levels started to drop. At first everyone thought it was because TPN doesn't contain iron and since he was getting very little formula he was just iron deficient again. Not so, his iron panels came back just fine. As is par for the course with my little enigma, no one knows why he is anemic. he shouldn't be, but he is. At this point his diagnosis is Anemia of Chronic Disease. He requires a transfusion about every 3 months (fascinating tidbit is that blood transfusions only last an average of 3 months). His levels jump nicely after the trasfusion and just slowly slide downhill until the next one. As you can imagine this messes with his energy level in big ways. Near the end of a transfusion period physical therapy is simply torure for him, and he pretty much just wants to hang out in his crib or on one of our laps and watch tv. After the transfusion, we get Mr. pink lips and rosy cheeks with tons of energy; only to watch the slow fade until next time.

I would be grossly remiss if I did not take the time now to thank blood donors from the bottom of my heart. My son has had 8 blood transfusions and several doses of IVIG (also a blood product). They have kept him alive. They have given him the chance to fight the rest. Without the tranfusions there would be no need for anything else. Thank you for the opportunity to take on the world.

The systems

The following are affected: Brain, heart, lungs, liver, kidney/bladder, stomach/intestines, blood,  and endocrine. I'll start with the minor ones and I think do a single post on each of the major issues.

Heart - Tomas was born with 3 holes in his heart. An open PDA and a VSD and ASD. The PDA closed on its own when he was around 4 months old, the VSD closed much later; but again - on its own. The ASD was open, then closed, then open, then closed, then open again. This last go round the doctor finally said he doesn't think it ever closed, but that it is so small it doesn't always show up on the echos. It requires no intervention and no medical precautions, and he only needs an echo for it once a year. He also has a right conduction delay which may or may not be from the ASD, or may or may not be from his metabolic disorder. All in all his heart was strong from the beginning and has remained so.

Lungs - He has chronic lung disease and various parts of his lungs are usually in some degree of collapse. Sounds terrible but he has learned to adapt and with the help of his vest therapy and meds manages along pretty darned well. He still gets pneumonia 2-3 times a year, and in February needed O2 support for the first time in months, but honestly on the whole his lungs are so much more stable than they were for the first 2 years. The only remaining scary issue is that when he gets sick, really sick, his lungs don't compensate anymore and he can crash hard on me, and scare the pants off whoever is around at the time. He was admitted in June for a nasty UTI which started as a fever spike. Because of his central line protocol I have to take him in to ER with any temp over 100.4. That day it hit 102.5. I decided to drive in, thinking I had enough time to get there, but was wrong. By the time I was about 5 mins out he started retching, his skin became that awful mottled shade of gray, and he had the rigors. We had immediate triage, assement, and then the director of the ER came in (after the ER docs went and got him). He said that Tomas looked like he was in septic shock and began talking about moving him to ICU and possibly intubating him. His breathing was that terrible. However, the ER team was awesome and had the IV antibiotics up and running in about 45 mins, not long by ER standards at all, and within an hour Tomas was sitting up and responsive. Point of the story being his lungs just don't keep up when he is really ill. (And from now on mommy will be taking the ambulance into the hospital)

Kidney/Bladder - He has had a few UTIs before this last one, and intermittently has hydronephrosis (a swelling of the kidneys due to fluid build up). Because he got so sick from this last UTI nephrology was brought back on board. They were brought on during infancy, he was dismissed, brought back on about a year ago, he was dismissed, but now they are here to stay. Tomas has some white spots in his kidneys that are not stones, but either crystals (kind of pre-stones) or scar tissue. He needs to be bladder/kidney infection free for 3 months in order to have a nuclear scan done on his kidneys to find out which. So, in the meantime he is on a prophylactic antibiotic and is taking sodium acetate to help keep his bi-carbs up and reduce the likelyhood of any new crystals.

Those 3 systems sort of fade in and out of play, or rather weave around other issues going on. The reason I would classify them as minor issues is that they don't really effect the day to day health or routine, and pretty much only become an issue during illness.

Here I am

It has been a long time since I posted. A really long time. But things are changing here and there is no better way for me to organize my mind and make it easier to keep a large group of people up to date on what is happening than through my long lost blog. Over the next few days I'll post updates about various health issues Tomas is still dealing with and some new ones that have cropped up. To cheat a bit and put the cart before the horse; this story doesn't look like it will end my way. Today we learned it is unlikely Tomas will ever come off of TPN. That in and of itself is usually a life-shortening condition; combined with the other issues going on, well, like I said, not my way.

I would like a re-write but as of yet my editor doesn't  agree. He is calling the shots and has set the form for the story. Oh, He is letting me use my own words and embellisments, letting my thoughts and desires scream from the pages, but the outline is still there; already written. My job is to show the world how beautiful His outline is.

And it is beautiful. It is also, thankfully, unrevealed. So while the realism of the place we are in is not lost on me, my only option is to continue on to see what He wrote.

Of irony and honey

Tomas had several appointments over the last week so we were at the hospital quite a bit. He has been here long enough and often enough now that people recognize him. Several times over the few visits people would stop us and say hello, comment on how good he looked, and say that it was nice to see him as an outpatient for a change. Ironically, I cringed. Here we were nearing the end of February and I longed to make it through a month without an admit. And as you all know God and I have this clearly established pattern of Him bending my will to His. The idea occured to me that if I expressed this desire out loud, then surely God would pounce.

The first visit was to pulmonology. The doctor didn't have much in the way of encouraging news. He said that because of Tomas' immune issues and lung issues he is prediposed to getting frequent pneumonias. Since we are already doing everything we can do to prevent them and it is not working than this is just going to be the way it is. All right, next. A series of skeletal xrays to check why he won't bear weight; those showed Bilateral Coxa Valga deformity - a type of hip dysplasia. All right, next! Nephrology, a new service for him. That doctor had better news. Although she is not going to reduce the high amount of TPN volume Tomas is getting because he is at a very high risk for getting kidney stones since he doesn't pee when fluids are not running, she doesn't think there is anything else that needs to be addressed right now and only wants to follow him once a year. Woohoo, now we're talking.
The next day was his bone marrow biopsy and lumbar puncture. Good news is that for the first time ever he did not need airway support while going under general anesthesia. No intubating, no LMA, no nothing. Just a bit of repositioning every now and then. This combined with the fact that for the last 4 surgeries/procedures he has had no severe waking up issues makes me think that he has turned the corner where anesthesia is concerned. Bad news is his lumbar puncture showed his opening pressure higher than it was in late August, which means that his intracranial hypertension is worse, and that trying to reduce his medication a few months ago didn't work. So the doctor ordered the dose back to the original strength while we wait to follow up with him. After that came a chat with Hematology. That doctor wanted to wait to start the Neupogen injections so that she could track Tomas' neutrophil count while he was healthy. I agreed because I wanted to see if adding in the second Ethanol lock per week would make a difference. Then she did it, she said "After all, it is already the 23rd, you are only a few days away from making the whole month." Ack, that was it. Now I had to respond. "Yes", I squeeked out, hoping the omnipresent One wasn't. That was Thursday.
Tomas was admitted yesterday. He has a fever and a dry cough, feeding intolerance and retching. Nothing has come back positive yet so they are still looking for the source of the infection. This makes the 12th month in a row he has been admitted. For one complete year he has been in the hospital at least once per month Sixteen admissions in 12 months and only one of them was overnight. To say I am tired, that my girls are tired, my husband, his employer, our family, friends and bank account are tired is the exact opposite of a hyperbole.
But while God has not put down his pruning shears, His salve is of the sweetest kind. Once again friends have come to my rescue offering childcare so I can have peace of heart while I am once again separated from my daughters. And wedged between those doctor's appointments and this admission was a day spent in His house with my homeschool group. Because it was on a Friday during Lent, we walked the Stations of the Cross.With each station Jesus grew weaker, falling several times. With each station, bowing and rising, I grew stronger. With each step to His crucifixtion Jesus drew me one step further from the abyss of discouragement and the darkness that surely lies in a heart filled with despair. With divine irony, while I was remembering His pain and suffering, He poured out His graces to soothe my wounds. It is the ironic fate of the sacrificial lamb; only through His blood can I be cleansed.

It's been a while...

I've come back here so many times over the last few months but never managed to sign in and update. So many things have changed and yet so much is still right where I left off in October. Line infection after line infection; illness after illness.
Then something happened yesterday morning that made me come running here to organize my thoughts. Tomas was pretty cranky most of the night and was still sleeping hard at 8am, so I cancelled his 8:45 therapy session and let him sleep. When he finally woke up, he the girls and I sat on his bedroom floor playing. After several rousing rounds of "Itsy bitsy spider", I looked at all three of them sitting there wrapped in the pure joy of being together and I was so grateful for homeschooling and the lazy mornings it affords us. But my very next thought made me tremble and I had to shove it away in order to keep from sobbing. Will this morning be one of my most precious memories one day?
In the last two weeks Tomas' mortality has loomed large. Not because anything acute is happening or because anything new and heavy has come our way, but because the chronic-ness of being Tomas is taking its toll. He saw 3 secialists last week and all of them want to trial new meds, all of which have potentially large side effects. Hematology is the one that brought the biggest.
The GI doctor approached hem/onc asking her to do something about his neutropenia in order to help Tomas fight the line infections, or better yet, to keep from getting so many. Initially she said no, the treatment for neutropenia is a growth hormone injection. It has been linked to leukemia. In the past various doctors have told me they would only use the med on Tomas if "our backs were against the wall", or "as a last resort". GI came back, presumeably after this last infection in January, asking again. This time the oncologist wanted to know if Tomas was really getting more line infections then their average patient. GI's answer was an adamant yes, so she agreed to do a 3 month trial if my husband and I approved.
I always imagined the tough decisions centering around DNRs and healthcare directives; discussions with a palliative care team, hospice care - that sort of thing. I certainly didn't see this one coming. I went into the appt. expecting it to be just his regular old oncology follow up, instead I was hit with this huge discussion on how dangerous a place Tomas is in right now.
At this point he is getting line infections every 4-6 weeks. Mike and I have wondered how long his little body could continue fighting at that pace. The dr. confirmed that was GIs thinking and why he was pushing for action and that was the ONLY reason she had agreed to do the trial. The shots do boost neutrophil count, but patients with congenital neutropenia have transistioned to AML (actue myeloid leukemia). The particular type of cancer Tomas is already at risk for. His current risk level is 25-33%, depending on what studies you read. Adding in the neupogen puts us in uncharted waters. The oncologist also told me that she did not think Tomas would fare well against leukemia, that he has too many other issues going on to effectively fight it. This was particualarly depressing because I had always banked on the Down syndrome superstar in him to pull through if he ever did transition. She said normally DS darlings do very well, and they (as a group) have an astronomical recovery rate of 98%. I know of some families that fell into the 2% group so I was not oblivious, but again it was the odds I was banking on. They're gone now, a safety net disappeared; whether we start the neupogen or not.
So this was the choice given to my husband and I: Do nothing - he may or may not continue to get line infections while we attempt to get him off tpn; should he continue to get them, they may or may not kill him. Do a 3 month trial of the neupogen - he may or may not transition to leukemia; should he transition, it may or may not kill him.

After asking many opinions we decided to go forward with the injections. The idea is if he gets a line infection during the 3 months trial then we stop the shots immediately because they are not helping and therefor not worth the risk. If he is infection free, then we face another tough decision, continually weighing the risk/benefit.

Tomas goes in for a baseline bone marrow biopsy next Thursday and then we start from there. And that flashes me back/forward to the morning on the floor. I want to forget it, I want to have so many more mornings like it that the commonness of it pushes it away from my memory banks, makes it be mundaine and forgetable.

But Lord, if I don't get 1000 more like it, thank you for that 1. Thank you for that sun shining, heart music singing, face hurting smiling morning from Heaven.