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.

CHOP Bound this weeek

9/11/10 in Gettysburg, PA

So this week, we head up to CHOP for two days to meet a few specialists. On Thursday, we head to Immunology and sit down with the doctor to review Liam's previous labs and try to determine what is happening. From what she told me on the phone, its going to require quite a few blood draws and actually putting his blood in a lab for several days. Doctors will watch his blood to see how it produces, splits, builds, etc and they can then determine if it is a result of function or reproduction. We did learn that the gland that produces immunoglobins was actually removed during his open heart surgery but from the research I found, that typically doesn't affect it later on. The body should have all the immunities it needs when you are born.

On Friday, we need to meet with the ENT speciality group. When Liam was on the breathing tube and CPAP machines during his chest drainage, his nose got beat up both on the outside and inside. He has a scar along the bottom of his nose on the outside but internally, one nostril is slightly flopping over and much smaller than the other. I hope this is something that is ok- he hasn't had breathing issues outside of typical DS concerns. If not, it may require surgery.

While we are at ENT, we need to have his hearing test. We had it done here about 3 weeks ago and for whatever reason, on one of a handful of tests, his left ear couldn't be read. Unfortunately, it was the test that can determine hearing loss and it wasn't a fail or a pass. The doctor told me she thought his hearing was fine, particularly because of the other tests and that he hasn't had any ear infections so far, but she thought it would be smart to ask CHOP to take a look too. Fingers crossed it isn't hearing loss already. A lot of DS kids do have some but with the way he interacts, talks and wakes up when I walk past his room, I'm hoping its not the case.

There are so many parents in worse spots than this but I think living alone with Liam before these appointments is making me get inside of my head too much and anxiety might be creeping up on me. We had 10 weeks of hell and months of eggshell living. I just can't imagine going through more issues and I admire some amazing friends who have gone through it, over and over. I don't think I'll ever relax around him and I don't think I'm supposed to. The immune issues are the most worrisome. I really don't want to be a bubble again, and the last few weeks, we stepped backwards a little and played it safe again.

Well, thats the update for now. I think its going to take a few days/weeks to get answers on the immune system but the important thing is to get an answer for the cause, especially before the flu season.

CHOP Results

Well the news wasn't what we wanted to hear- all three of his labs came back slightly outside of the normal range. Of the three, his hemoglobin was already re-tested back here in VA and its now back to normal but we need to keep him better hydrated with additional water/juice throughout the day because once this guy falls asleep at night, he doesn't wake up!

His thyroid function is slightly hypothyroidism and the attending endocrinologist at CHOP said if he was 3 or 10, she wouldn't recommend medicine because the number is just slightly above (range goes to 3.8 and Liam was a 4.4) but because the first two years are all about neurological development and this could effect it, she wants to play it conservative and put him on a small dose of Synthroid daily until he is 2. Sigh.

And then the worst news was his immune labs- he went down in the majority of categories which is surprising. We were expecting a slight increase since more time has lapsed since the surgery and the chest drainage. His numbers are back down from where he was in May. The most concerning news is that they just don't know why. The immunologist did have some questions for our cardiology team and we scheduled an appointment for September 23. In the meantime, he is going on Bactrim which helps fight against infections. The concern is a common cold could spell pneumonia for him and he needs protection against it.

For anyone who knows me pretty well, waiting until September 23 was just not going to work so instead, I reached out to our CHOP Cardiology team asap and got some answers to the puzzle. The one big question was if during the surgery his thymus gland was at all scraped or touched since this makes and houses your antibodies. Well...it was completely removed! We hope this will provide more guidance in how to treat his immune system. The good news all the other questions were no's and less to worry about. CHOP is going to do a study on Liam's blood cells and see how his cells function and reproduce. Their team is determined to get a health treatment plan in place before winter really comes along with all the sickness.

In the meantime, I have been a part of this terrific Mom's playgroup and Liam especially has really enjoyed the social and play aspect but I am going to have to cut back on the interactive stuff for him right now until we know what is going on with his health. I am going to try to find a middle ground for us to do some things and not others. He won't be happy but he will be healthy, which is what we want.

Here are some more recent pictures of our adventures:

CHOP Buddy Walk

We are going to be participating on October 3 at the CHOP Buddy Walk and hope you can join us! Here is the link to our site- please consider spending the day with us and bringing the kids out too! It is a family fun day and there will be lots of activities for all!

http://giving.chop.edu/site/TR/Events/BuddyWalk2008?team_id=6462&pg=team&fr_id=1190

Can't wait to see you all on October 3rd, we will have a ton of camoflouge gear for the team!