Sunday, January 30, 2011

So glad this week is over!

It was a long one! The two ER visits last weekend, GI on Monday where he told me he wasn't the right doctor to help Tomas, Tuesday brought a pedi visit for the girls who have been battling this virus for two weeks, and then Thursday.
I applied for a medicaid waiver for Tomas, he was approved, and in order to start nursing services I had to bring him to a nursing home overnight.  I went to the center on Thursday morning and filled out all the paperwork. Then we went to our two big appts., then at 11:45pm I had to bring Tomas back to the home for his "stay". It was very easy, but such a long day. My husband was out of town so I had to bring the girls with me. We got home around 1am. Thank goodness for homeschool and not having to wake up early the next morning!
But it is done. He has medicaid!! The nursing agency is sending someone out on Monday and we will get a schedule set up. Also, my husband's company switched to co-insurance this year so having the secondary insurance will be such a blessing.
Now for the appointments. We met first with the hem/onc and she wants to go ahead and repeat the bone marrow biopsy. Then on to the GI across the hall. He spent a ton of time with us and went over everything. I had typed up a GI history for the visit and we went over the whole thing. We then went back across the hall to hem/onc to finish up with her. All total we were there 4 hours! My girls were so good, and we still had the nursing home to do that night!
So what's the plan? Well, the GI wants to proceed with the endoscopy, and he wants a full metabolic workup done in the hospital, and wants to get the endocrinologist to do another fasting study. He thinks the elevated liver enzymes are not related to the liver. They are referred to as liver enzymes but they are also present in skeletal and cardiac muscle. Basically, an elevation in the enzymes only occurs when either the liver or muscles are damaged and the enzymes "leak" out into the blood stream. The doctor thinks a type of muscle breakdown disease may be the culprit. That makes my choices so far some kind of liver disease or some kind of muscular dystrophy. As I told a friend the other night - I'll take door #3 please!
I am not ready to throw the liver disorder out the window yet though. It explains so many of his symptoms that a muscular myopathy wouldn't; I can't dismiss it yet. Unfortunately, the only definitive way to check for it is the biopsy. So for now it gets pushed aside. First comes the admit.
The only catch to all this is that Tomas tested positive for parainfluenza at the ER last weekend. He now has an upper respiratory infection and the croup. So no sedation for six weeks.
At this point my week really should have been over but it was not to be. Friday came with a late morning for the girls, followed by a pedi visit for Olivia and Tomas. Olivia has severe asthma and had been blowing in her yellow zone for 4 days no matter what treatments we tried, and Tomas is, well, Tomas. So prednisone for both to get those lungs back to normal!
Ok, Friday evening, everything should be settled down by now right? Wrong!
I was cleaning up a bit in my bedroom and the kids were all in the living room watching TV when I hear a panicked "Mom!" coming form Olivia. Tomas' GJ tube came out. The balloon ruptured and the whole darn thing just slipped right out. So I grabbed him and put an old G button in to keep the stoma open. Great, that's the emergency part, keeping the stoma viable so no repeat surgery will be necessary. Now what? Can  I feed him into his stomach? Give him pedialyte? What about his hypoglycemia, and dumping? It's a Friday night, no IR doctor is going to be at the hospital, if I take him they are just going to start and IV and make me wait until morning. And my husband was still gone! A few phone calls back and forth between Tomas' pediatrician and the GI doctor on call at the hospital and we came up with a plan to keep him home and keep him safe. It involved lots of blood sugar checks on my part, but he made it through perfectly. Saturday, we drove down to Dallas to get the tube replaced while a friend watched the girls. The GI on call doctor never put the orders in so it did take a really long time, but other than that all was well.
I am so ready to start a new week, and shove this one to the deep recesses of my mind, preferably to a black it out area! Tomas is still not feeling great and very week. He played a bit on the floor this morning, but really has just wanted to sit in his little recliner chair that PT brought out for us.  I hope to see him gradually improve over the next few days. It has been a rough go for him lately!
This Wednesday I meet with the endocrinologist. The GI would really like to bring him on board. Up until now, it has been a challenge to get any endo group to pay attention. In the words of our old GI, "If your kid doesn't have diabetes, you're not going to get anywhere with endocrinology." Hopefully, the notes from the GI clinic will help to propel things forward, although the GI did say he would pick up any slack left behind by endo. He must be used to them.

I am just grateful that we are moving forward. I've felt stuck since summer and would really like to make some headway in the diagnosis game!

Tuesday, January 25, 2011

Big Neon Signs

Friday morning Tomas had another suspected hypoglycemic seizure. I actually forgot to check his sugar because I was so in the middle of fixing him and getting sugar into his body. Again, this is the mystery metabolic disorder we are still hunting for. Friday night he spiked a fever and Saturday morning I had to take him to ER to get his ANC checked. That is his infection fighting blood cells, and because he runs chronically low any time he has a fever her needs to get checked. Since the only place to do that on a  Sat. morning is ER - off we went.
His ANC was only midly low so he was able to just get IV antibiotics; however (damn that word) his overall WBC was very low, and his platelets were low also. This bought a call to the hematologist on for the weekend. Any guesses on who it was? The doctor whom I  dismissed last week. Sigh. He sent us home, following ANC protocol. I think that is my biggest issue with him, he is a competent doctor, but I have never, not once, seen him step outside the box. Anyway, home we went.
Sunday Tomas still had a fever of 102, then in the early evening when I vented his stomach it had so much more blood in it then ever before. He wasn't gushing or anything - just so much more than usual. I called my husband in and even he thought it was a lot of blood. I debated about taking him in again, but then remembered the low platelets, so off we went again. The ER was packed that evening and it took almost an hour to get triaged. Once that happened though we got right in. The nurse said we trumped everybody out there so we went to the front of the line - kind of a strange perk but a most welcome one at the time.
The ER doctor said he would most likely be admitted, they ran in some IV Zantac to stop the bleeding, and drew labs. His platelets were up and his WBC was slightly up, but his ANC was slightly down; so another call to the hematologist on duty (yes, still the same doc) and he said it was ok to discharge him. I told the ER doc I was not comfortable taking him home with the GI bleed, fever, and funky blood numbers. She called the GI on duty and ran through everything, and he also discharged Tomas, with orders to see GI the next day because as it turns out his liver enzymes were very elevated and his liver was enlarged. He also doubled Tomas' dose of prevacid, which the nurse tried to give him by mouth (that is why I can NEVER leave Tomas' bed - just too many things can go wrong). I told the ER doc I didn't want to give him the med because he already had hardly any stomach fluid and I didn't want to make it worse. So I had to refuse it, and we went home, at 3am!!! Crazy.
Now I was supposed to follow up with GI for the elevated liver enzymes on Monday. I knew it would be a battle because of the difficulty I had getting Tomas switched over to the hospital clinic in the first place. First thing Monday morning Tomas' pedi called to find out what had happened over the weekend and he was just shocked that Tomas wasn't admitted. Me too. Anyway, he said to try the clinic and if I had difficulty to call him and he would run interference for me. I called the clinic and told them what was going on, she said she would call me back in a few minutes with an appt. 2 hours go by and the pedi calls to find out how things are going. I had to hang up with him though because the GI clinic was calling in. The woman on the phone said that the doctor said until Tomas is an established patient that I needed to follow up with the current GI. His new patient appt. was on Thursday, and I had been seen at his hospital. I called the pedi back and he called out to the old GI and got me an appt. that afternoon. In the meanwhile I called the hem/onc clinic and got an appt. for Tuesday morning with his regular doctor  to follow up on the cytopenia issues.
Tomas' bleed was still under control and I went to the GI appt. and met with the doctor, whom I like very much. We were leaving because the oncologist wanted to do the whole "team admit" thing and work closely with the GI at the children's hospital. Anyway, the current GI walked in and spent an hour firing me. He was so nice and compassionate and just fully admitted that Tomas' care was beyond the scope of what his practice could offer. He though it was a great idea to team up out at children's. He said the best thing for Tomas would be to have a medical student assigned to him who could spend the hours of research necessary. He also admitted that he ordered the wrong test when he ordered the metabolic study for the glycogen storage disease. Turns out we waited 6 weeks to find out Tomas does not have a chronic inflammitory disorder.
As I was leaving the office, already feeling quite dejected, a voice mail came in from the hem/onc clinic saying that the appt. for Tues. morning had been cancelled and that Tomas did not need to be seen. To say I was at a low point was an understatement. What is it going to take to get someone to pay attention to this baby? Here he is with a GI bleed that has been going on so long it has depleted almost all the iron stores in his body, he is hypoglycemic like clockwork about 4 hours into a fast, he has chronic neutropenia which no one can explain, and an immune system that is so suppressed he is growing a bacteria in his urine that the pedi had to go look up because he had never heard of it.
So I got in the car and started talking to God. Clearly, this was not the path I was supposed to have Tomas on, but if He could please show me the right path in the next, oh let's say, 12.5 seconds  I would greatly appreciate it. Do I let Children's try this team admit? Do I pack him and the girls up and head to Houston, do I wait it out until the summer when I can take him to NYC? I called a friend and she commiserated with me (thank you friend), and said she would pray that God send me a sign.
I hung up with her and not 10 minutes later Tomas' oncologist called. This is the doctor who was determined to help Tomas at our last appt. and wanted to get the team together to do the admit and testing. She talked with me for almost an hour, and we went over everything. She had heard through the pedi that I wasn't particularly comfortable with the GI switch over. I told her I wasn't because that doctor wanted to give me an appointment for March 21st, even after I told them that they were not seeing Tomas for feeding issues, but the GI bleed and elevated liver enzymes. It took the pedi calling for me to get the appt. on the 27th. She said that didn't really make any sense because she had met with him for an hour about Tomas and he was very intrigued. She said it sounded like a front office issue and that she bet me if she spoke with the doctor he would not know any of this had gone on. It turns out I misunderstood the pedi, he didn't call the GI to get the appt. moved up, he called her, and SHE called the clinic and told them to get Tomas in asap. She also told me that one of the swabs from Sunday' Er trip came back positive for parainfluenza, which could explain the WBC suppression and platelets, but is not a virus associated with elevated liver enzymes., that is all Tomas. She asked me to please give this a try. She cancelled the appt. for Tuesday because she wanted to see me the same day as the GI doc at the same location and save me the drive to Dallas. So come Thursday I meet with them both.
That evening the pedi called again to check on how things went at the GI.  I told him everything that had happened and he was almost as relieved as I was. He was shocked that the GI had dismissed us, but agreed that the doctor was limited in what he could help us with. He also told me that any future ER visits should be down in Dallas. I like to use the satellite campus because it is so much closer. But he told me that he had never heard of giving someone IV Zantac to stop a GI bleed and then sending them home. He was mad that Tomas wasn't admitted (he doesn't have rights out there) and said that if he were in Dallas at the teaching hospital it would never have happened. He has been Tomas' strongest advocate and I am so appreciative of his efforts.
Sometimes God sends me signs so unobtrusive I don't recognize them until well after the fact, other times things happen that just nudge you along, and then there are days like these, when big neon signs hit you square on the head. And although it wasn't EXACTLY 12.5 seconds I am grateful that I was not left at that low place for long. I couldn't have stayed there anyway - Tomas is still sick, and so are both girls!

Thursday, January 20, 2011

Where's his birthday post??????

His birthday was on the 16th, today is the 20th - what am I waiting for?
Just for putting my mind together.
Of course there is more medical stuff going on but I wanted to get the birthday post in before I relay any of that, and really it is just more questions and no more answers; too annoying to write about. I can't really find a word for how I am feeling these days. I just know one thing; I do not want a do-over. 

We had a quiet day, it was too cold to go outside, and he is too immune compromised to go anywhere inside, but we had a special day anyway. Lots of love, lots of attention, lots of singing, playing, reading favorite books, and watching favorite shows. The girls and I made him a special cake.

I think he liked it (could only taste the frosting):

 Wrapping paper is the bestest ever!

 Just love that cute little face.

Right now we are waiting on a bunch of doctors to come together and get some testing done. Waiting is hard, and fatiguing, and frustrating; but giving up would be harder, more fatiguing, and more frustrating. Instead we wait - in joyful hope, because as for me and my house we will serve the Lord. and who wouldn't hold out joyful hope for this:

Thursday, January 13, 2011

Tiny whispers

I had a first today for me - I had to fire a doctor. It felt horrible, but it needed to be done. I love Tomas' hematologist, but not one of the other doctors in the clinic. We have seen this other doctor several times, and although he is kind he has a very laissez faire approach to patient care.
I called Tomas' CCBD clinic two weeks ago and asked for an appointment because I was concerened about his labwork trend. This doctor saw us (our regular was not in clinic that week), and he dismissed it. For today's appt. I really needed someone to listen to my concerns, and it was supposed to be with his regular doctor.
However, Dr. X walked in the room. My heart sank, I asked if we weren't supposed to see Dr. Y. He said she was around, and asked what was going on with Tomas. I told him everything and that I was worried. He said it sounded like it was a follow up for GI. I said I was having trouble getting a timely response from GI and getting Tomas' care moved over to the GI clinic at the hospital also would take a while. He said that would be ok.
I took a deep breath and said, "I'm sorry, but does this mean we are not seeing Dr. Y?"
He asked if I wanted to see her, I told him I did and that for continuity of care for Tomas I thought it would be better if I stuck with her.
He told me he had seen Tomas a few times already. I told him I'd really like to stick with one doctor throughout this diagnosis. A few more words (none unkind) and he was gone. That was so hard!!! At that point we were called back to lab.
Later, Dr. Y walked in and I don't think she even knew Dr. X was in because the first things out of her mouth were, what is going on with your baby, we need to check this, and this, and that.
She looked over the spreadsheet I put together and was very concerned about the low calcium and low protein. She said his body has very little muscle mass and is using his nutrition to rebuild lost tissue it is burning for energy. He is unable to build any significant new tissue and his nails are showing signs of chronic calcium loss. The she said very firmly, "This is not diet related!"
She also said that as this point she thinks he has two separate syndromes going on (not including Down syndrome - we are so far from that now it is not even funny). One syndrome to explain the neutropenia, liver and hypoglycemia; and another for the inability of his body to metabolize food properly. His labs showed a huge increase in iron, which she said was because I had just given him a dose a few hours earlier. However, the iron binding proteins were the highest she's seen in anyone in a while, which tells her his body is absorbing the iron but unable to use it properly.
She asked if I had though about moving GI care back to the hospital clinic, and  I told her that the scheduler said I needed to have records sent over, the doctor would need to review, and then Tomas would need to get a new patient appt. She told me to wait a minute, left the office, came back a few minutes later and told me she and the GI were going to meet this evening about Tomas!
There was so much more but honestly my head is swimming. What it boiled down to was she thought it was time to be very aggressive in getting some metabolic testing done.
She already knows GI wanted to do the scope and liver biopsy, and she wants a repeat bone marrow biopsy. So, the plan right now is after tonight's meeting, and hammering out of details, and possible bringing in of endocrinolgy, Tomas will get admitted. I don't know when, but am assuming sooner rather than later since the GI bleed still needs to be addressed.
I am on pins and needles. My biggest fear right now is that something will fall apart and the admit won't happen, or that someone will tell me that there is nothing wrong with Tomas, and to stop worrying.
I hope that I finally have their attention and can keep it this time long enough to get a diagnosis, and a treatment plan. His PT was out this afternoon, and since Tomas had not had any floor time this morning, and had taken a nice afternoon nap I was hopeful for a good session. He played a bit on the floor, and then tried to pull up to stand (to get my computer - turkey!) and then about 25 minutes into the session he scooted over to me and grabbed at me until I picked him up. Then he laid his head on my shoulder, panting from the hard work, and rested.
She wrote in her note that he was having difficulty acheiving tasks he was performing well just a few weeks ago, and that she was bringing a feeder chair next visit for supportive sitting when he is worn out. Watching the progressive weakening has been the hardest part. It is by no means severe, but I have noticed it for a while, and now the therpists are starting to see it. I pray once we get the iron under control that will resolve most of the stamina issues.
Thank you to all who keep him in your prayers. They are powerful indeed. They came in like a thousand tiny whispers and pushed me forward this morning to advocate for my son.

Wednesday, January 12, 2011

Could be this or this or this or that

Pretty much sums up my phone conversations with the pedi. He called me, we talked about 1/2 hour, he called me back about 10 mins later and we talked for another 20 mins. It was all conjecture and enough to make me insane! He wants an arterial blood gas sample because of some of Tomas' labs, and thinks it is a good idea to repeat the fasting study. Since those need to be done at the hospital he is laying it all at the feet of the hem/onc doctor whom we see tomorrow.
Clearly, nothing that is going on is enough to bring him to ER but this chronic drain on him is taking its toll. His SLT was out yesterday and before I gave her any updates she said he looked lethargic and not himself at all.
There is so much swimming in my head right now:

the iron - why such a severe deficiency? And if it is as severe as the docs are telling me then why just an iron supplement to bring it back up? It takes forever for those drops to work. His iron was 16 last week, maybe it will be 17 or 18 this week, but 50 is where they would like him. Long road there. Also, we need to find the cause of the GI bleed.  Because I am a woman on the edge, I tested his gastric acid on a urinalysis strip and it came out (very) positive for blood, even though there were no specks in it this time. That means (unless you are supposed to have blood in your stomach - which I don't know) he is bleeding all the time, not just when I can see it. His iron stores aren't really going to get better until we address that.

the hypoglycemia - He can only go about 4 hours without food before his sugars start to drop below 60. I have checked his urine during the fast for the last 3 days and it always has keytones in it. If you are familiar with Atkins you know that means your body is burning fat as fuel instead of sugar. Most people can go 18 hours or more before they have burned off all their sugar stores (from the liver) and their body moves into fat metabolism. It is the whole theory behind the induction phase of Atkins. But in Tomas' case he doesn't have enough sugar stored or is unable to access it. What gives? This was what that fasting study back in August was supposed to answer. The first one was the same as now - 6 hours into the study and his blood sugar was in the 30s and keytones in his urine. Just not supposed to happen - but two days later he went 18 hours during a fast, so he was went home with no further investigation. Here we are months later back at the beginning. This state of acidosis could also be the reason for his different breathing. Apparently the lungs have to go alkaline in order to compensate, which would explain Tomas' low Co2 levels and elevated anion gap. (this was what much of the phone call was about - the anion gap - sent me to the computer big time!)

the neutropenia and petechiae - I have researched and researched to try to find links between anything that is going on. Turns out that iron deficiency anemia, neutropenia, and petechiae can all be caused by a copper deficiency. How come no one checked this yet? Should he have a copper deficiency - no, but he shouldn't have an iron deficiency either. I'm going to ask on Thursday.

the IgM defciency - Total protein measured in the blood is made up of albumin and globulins. Tomas' albumin is normal, but his globulins are low. Also Tomas' Immunoglobulin M (IgM) is low. There is also a complicated link between iron deficiency and immunoglobulins that I am still trying to wrap my head around, but again I will ask on Thursday.

Those are the 4 big ones; anemia, neutropenia, hypoglycemia, and IgM deficiency.
Add in elevated liver enzymes, low serum globulin, low serum calcium, and an elevated anion gap and you have a giant mess. Once again, this blog is my mental unload, and orders the data swimming in my head. I have read more scholarly articles recently than I did while I was in college. In fact if YOU have read this far, God bless you and go take an aspirin.

Sunday, January 9, 2011

Tired and worried

Tomas has taken poor sleeping to a whole new level - no a whole new planet. I'm sure it is the iron bothering him, even though it is going into the J. He is grouchy and tosses and turns and flips and flops and whines and cries all night long. Add to that an extension set that popped off his feeding button because he was flipping around so much causing a huge mess at 3 am and you have two very tired parents and one very exhausted baby.
I'm worried too. His breathing is different, deeper and coarser, but his O2 has been good since that first night. His heartrate is up even while he is sitting in his crib watching VeggieTales (his current fave, and the only thing that consoles him right now). I put him on oxygen today to see if it would help his heartrate; it did - it came down a bit, but not much. His sugar was low this morning, and I checked a urine sample and he had keytones in it. That is not supposed to happen, but I don't understand why no one can put all the pieces together.
We had a snow day today or I probably would have brought him to ER. Not a true emergency, but worried enough that if the weather was good I would have went. Instead I kept the O2 on to buy us until tomorrow when I can call the pedi. Tomas is supposed to see oncology on Thursday, but I don't know if this can wait.
I am so tired of putting bandaids on symptoms without being able to get to the bottom of what is happening. I really hope this week brings some footwork on the part of his doctors. We need some relief!

Thursday, January 6, 2011

Update #2

 I remembered what the hematologist brought up to change the pedi's mind. It was because Tomas' reticulocyte count was low.
That measures how many new red blood cells your bone marrow is making. If it was dietary insuficieny then the retic should have been high to replenish the low hemaglobin count. But since it was low that meant there is hardly any iron left even in his bone marrow - which points to a chronic, slow GI bleed. The pedi said it would have had to have been going on for about a year. I told him that I first mentioned blood in his belly in July '09. His GI put him on carafate for it. So on and off he has been bleeding for about 18 months. Eventually he depleted all his iron stores, and we are at the point now where his body is robbing Peter to pay Paul. His blood will stay oxyginated at all costs so it robs iron from his organs to keep the O2 up. They even said it might explain what is going on with his liver.

Wednesday, January 5, 2011


 - Pedi just called after having talked to hem/onc. Everything is turned around again. They now think it is most likely a GI bleed, can't remember what hem/onc said that made pedi change his mind, was one of his other levels. Don't put the iron in the G, put it in J and get him scoped. GI didn't seem interested in scoping so time to get a new GI. Tomas' llast endoscopy was July '09 and he had duodenal uclers. Pedi said didn't GI follow up, nope, didn't think it was necessary. Pedi and hem/onc want me to go back to the GI we had before an insurance fiasco in Sept. '09. Call tomorrow for appt, and if I can't get one soon then have pedi call him personally. At least this makes more sense than trying to say the J was preventing absorbtion

Fe, TIBC, GI, G, J (this is not an eye exam)!

For about 8 weeks now Tomas has shown a steady decline in energy and stamina and has been sleeping even more miserable than before. I have brought it up here and there to doctors who take one look at his smiling face and say everything is fine. That smile is the reason no one in the medical community takes me seriously! He can't possible be sick - look at that smile! (I love that smile!) I just want it to be as frequent as it used to be. It is hard to confince a doctor that he used to smile ALL the time, and now he only smiles HALF the time.
Turns out he has SEVERE iron deficiency anemia, he has depleted almost all the iron stores in his body. His iron levels are less than half what they are supposed to be and his ferritin (iron stores) is neglible. His TIBC (total iron binding capacity - a protein the body makes to bind iron) is really high; meaning his body is making all these extra proteins to try and find some iron, any iron. How sad is that?
We found this only after I sent a spreadsheet to the pedi last week showing him the steady decline in Tomas' Hgb. He agreed to check his iron and iron stores since we were going to check his neutrophil count again anyway. Low and behold, we now know why he is so miserable and his breathing is more labored than normal - no iron. Ya think?
The pedi thinks it is because Tomas is J fed and he is not absorbing the iron in his diet since iron is best absorbed in the duodenum (right as the stomach empties). Fine, I'll give him that. However, Tomas has been on J feeds for 19 out of his 24 months and not had any iron issues or Hgb issues either. Why show up now? Nothing in his diet is different, and he gets 130% of the RDA for iron. So why now is he having trouble absorbing it? I don't buy it.
Pedi called GI and he wants to start on iron supplements (fine) 3 times a day into his G (not fine). First I don't think adding more iron is going to help since he already has enough in his diet - but ok - we'll give it a shot. Second, we all know Tomas has a GI bleed, not major, a little blood here and there in his g tube when I vent and a small amount of bloody discharge around the stoma. But I am very hesitant to put IRON into his G and send his stomach realing. Pedi wants me to mix it with vitamin c and some pedialyte (low sugar - Tomas has hyperinsulin dumping when we feed into the G - so I can't put any significant amount of sugar into his G) and if he is having difficulty with it then to just run it through the J. Ok wait, the J? The J that you say is causing the non-absorbtion of the iron in his diet in the first place - how does that even make sense?
Ugh and double ugh - can anything ever just be straightforward? I am really hesitant to put absorbic acid and iron into an empty belly that we know has an open wound, call me crazy, but the pedi wants to give it a day (3 doses) and see what happens. I am going in an hour to pick it up from the pharmacy. A very large part of me wants to wait until we see hem/onc on the 13th, but if the problem is as significant as pedi made it out to be then I know I shouldn't wait that long. Wish me (and him) luck!

Some kind of syndrome

Yesterday's labs came back with Tomas having iron deficiency anemia. We knew he was anemic just waiting on the type. Now it should be easy enough to fix - just an iron supplement right? You all should know Tomas better than that. He gets plenty of iron in his diet and since he is tube fed, he gets iron all the time. Not like an oral feeding toddler who suddenly goes all picky.
So the next question is why isn't his body using the iron that's available? Two theories - malabsorbtion or a GI bleed. I know he is bleeding in his GI tract somewhere as I vent out coffee ground blood from his G nearly every day, but is it enough to cause the anemia? Don't know - I'm guessing he has a scope in his future. The malabsorbtion isn't out of the question either since his calcium and protein are running on the low side, and again his diet is strictly controlled. All in all it means a rather thorough GI check up. Also, his WBC continues its decline but his ANC is steady at 500.
I had the girls in for the pulmonary follow up yesterday afternoon and the doctor was asking me for an update on Tomas. I went through the biggies that we are dealing with right now - hypoglycemia, anemia, low IgM, and neutropenia. He actually stopped reading his charts, looked up and said, "Well, it MUST be some kind of syndrome." Yes, thank you for that very helpful piece of medical information. The part that drives me crazy is all the doctors agree that since there are multiple body systems involved there MUST be a syndrome to explain it all, but we are no closer to a diagnosis then we were 9 months ago. The pulm then went on to say that even if we get a diagnosis it may not help much as far as treatment. I know. I do, I really get that part of it, but can you imagine what a difference it would make for me?
When he cries because he has been scooting around on the floor and can no longer do it and needs to be picked up, when his mystery rash breaks out, when the cold sore pops up on his lip, when I have to start his feed early because his blood sugar is dropping after a 3 hour break instead of the 4 hour scheduled one; finally, I will be able to say, "It is because of syndrome B." No more, "What is wrong with my baby?"  That makes all the difference in the world.

Tuesday, January 4, 2011

Harumph and a foot stomp.

I haven't posted because all I could think to say was one big BLECH! First let me say Tomas does not have a cold or the croup or an upper respiratory infection. Which is fantastic becuase any one of those could do some serious damage right now.
His latest immune panel came back unchanged, which means his immune system is still about half what it should be. His ANC has been steadily dropping, down to 473 on Thursday, with labs again today. He is anemic and his labs are starting to show that he is depleting the iron stores in his bone marrow. He is fatigued, pale, and mostly just wants to be held. But does anyone know why? Of course not. He gets almost double the RDA of iron in his diet so he should be able to pull it, but can't. The same thing has been going on with his calcium and protein, his diet is rich in these but he is borderline low there as well. Ugh.
I also finally got a hold of his GI nurse, but the metabolic labs are lost. They were drawn on 12/7 and were sent to another lab for the test. They are supposed to be sent back to the original lab who then forwards on to the doctor, but the doctor doesn't have them. The nurse is going to call tomorrow to find out what happened. Hopefully, the blood made it to processesing and it is just a matter or re-sending results.Ugh.
I have also gone round and round with Olivia's cardiology office to get her scheduled for the ablation, Call this number, no call this number, no it is supposed to be scheduled at the office. Seriously, the are one of the top hospitals for heart issues in the county, you'd think they'd have this part worked out by now. Ugh.
Tomas has a cardiology appointment this morning to check on that right pulmonary artery, and maybe that doctor can shed some light on his labored breathing, although I suspect it is from the anemia.
For the last 8 weeks I have been watching him slide downhill; less stamina, lazy sitting, less and less scooting and more and more whining. It has been difficult because there was nothing for doctors to put their fingers on. Hopefully, now with the labs also showing a progressive decline they can figure something out. Preferably soon!