Wednesday, January 5, 2011

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.


  1. Oh syndromes, so frustrating! Jax has I think 3 syndromes! Working in the hospital, there were so many kids that we knew had a syndrome, but it was either not discovered yet, or didn't have enough to have a name. So frustrating when you have something rare, and some doctors don't dig far enough! Sending vibes to docs to dig a little deeper!

  2. Poor Tomas (and mommy too):( Although I do not "know" what you are giong through, as a mom, I am sure that an official diagnosis would help to ease your mind. I pray that the doctors continue to search for answers....and find them, too!!

    Thinking of you & praying for you all!!