CHOP Results- Outlook is good!

So we had our CHOP appointments last week with the ENT and Immunology. On the positive side, ENT said Liam's nose healed wonderfully and no surgery needed. Yea! On the negative, when they tried to rescreen his hearing, they first decided to clean his ears. No qtips here. Instead, we were moved to a surgical room and little man went into a weighted straightjacket holding him down and he just lost it, before his ears were touched. At 5 lbs, he hated being swaddled. At almost 22, still does. Next a large machine, about the size of the x rays was held against his ear and a 6 inch slim metal tool went in. It was horrendous. He was so terrified. After all this, the doctor still couldn't see the ear drum and suggested it might be the reason his last left ear screen didn't pass. From here, we went to get hearing tests done and not suprisingly, he fought it. I was kind of proud in some sense. He isn't much of a crier and he finally gave them a mouthful- a screaming Liam hitting the technician was amusing to me after seeing him so upset. Bottom line, we need to come back to get his hearing checked and we will go directly to the tests and not mess with him beforehand.

Immunology. Well, first, its not an exact science. Its a moving Tetris game from what we have seen. You don't always have an answer to the "what" is causing this but instead, you treat a moving diagnosis with the goal of preventing opportunistic infections. His numbers in August did not look great and the immune team is trying to determine what is causing this. They did 7 blood tests- three antibody counts, three vaccine reaction (how his body did with the vaccines he received) and then a blood draw where his blood was spun down to the actual microscopic views of his immune system- t and b cells. T cells are the generals and they tell the immune system what to do (so kind of like me, T, tells Alex), from the antibodies to b cells which fight infections, etc. This is typically housed in your thymus gland. Liam's was removed because it blocked the heart during the surgery and this is normal. What isn't normal is the amount of chest drainage the poor kid had so in addition to losing his immune house, the cells that were working roaming around his chest cavity were leaked out. In extreme amounts...to the point where they haven't seen this with other patients. Yay for being first. Read sarcasm here. (Adults typically leak 200-300 ml, which is about a gallon of water in your lungs. Liam was up to 1000 daily.)

So the blood they spin down is watched over a 7 day period to see how it operates. At the same time, there is a control specimen of another 10 month old and Liam is compared to the healthy blood. Our doctor cautioned us that it could be he needs more time to recover or he may have one of ten auto immune issues that kids with DS tend to have. But then we went further. And I thought I was going to vomit. It could be genetic and something that Alex and I carry. So not only could we be the cause of Liam's health, there goes the idea of future children. Basically, she needs to rule out 100 things and we were only on step 1. Once we got to step 20, the big scary words came out. Bone marrow transplant and chemotherapy. I actually ended the conversation because again, its step 1. Let's get through that first. These are also the reasons why its taken me time to post. I am still digesting this. I am not strong enough to deal with this and am praying daily to keep us at step 1.

We left knowing we would remain on his medicine Bactrim most likely long term to protect him as much as it could against those opportunistic infections and that if his antibody counts came back low, we would begin a monthly infusion at CHOP that would boost his antibody. Trying to imagine him sitting still for 3 hours, much less 2 minutes, while blood drips into him, pretty much has tortured me for the last week. Mostly because it would be me sitting with him and watching him in pain and confusion again. I will say it again- I am so happy that this is happening now and not when he is 4 or 5 and can remember this. You parents who do that- I am at a loss for words.

So after all of this going through my head for the last week and trying to remain positive, we got the call this morning. Now, again, its not an exact science but the first words I heard were " I am so pleased with the results" and I just said thank you. Antibodies- normal! No blood tranfusions. It should be 300 at age 1, he is up at 399. Boo-yah! Or however you spell it. All his vaccine results were normal!

Now onto the bigger test/results. His b cells are normal and doing their job but his amount of t cells, as we already know, are about half the amount he should have. When compared to the control, his function is between 50-60%. Thats not awful, its not great but what it does is show the immune team that they do work. His antibodies cannot work without the t cells and his b cells can't do their job without them either. The generals are still communicating and working, there is just less of them than what is normal. In terms of a diagnosis, it leans toward his body needing more time to recover. He will stay on the Bactrim until we see 6 months of normal t cell levels. It could be this spring, or a year to two. We don't know but as long as he continues to improve, this could be the answer.

Its a relief- I know we can't say for sure this is what is happening but I'll take this first round of tests as a good sign. We are going to get tests done every 3 months and see the team every 6, unless he begins to become sick. We are going to hold off on his live 1 year vaccines until the next round of results come back. He still hasn't had any vaccines that are live yet but its when we begin missing the 1 year ones that we have to worry more about exposure. We still need to be ultra careful with him, hand sanitizer, no daycare, because the risk benefit ratio of being exposed is against him. But this was a sigh of relief, to hear that his immune system knows what its doing, it just needs more time to build up and re-educate since its house is gone and the previous educated 'tenants' drained out.

Thanks for reading, I know this was a long one to get through. In other great news, our Buddy Walk team reached its goal of raising $2500. We are close to almost $3000 and the weather looks beautiful, if not a little chilly. 62 and sunny on Sunday morning! Like the team name, LIAM is strong.