Sunday, September 27, 2009

Way overdue.....

OK. I am WAY overdue with a post here. Things have just been sooooooo busy - for us, at least.

Well, first I wanted to recap our appointments in Wisconsin. I have pictures, but I haven't had the time to upload them. They'll wait.

We made it to Milwaukee in record time - seriously - a little less than 4 hours, going THROUGH the Loop in Chicago! We'll probably never make it that fast again, but now we know the perfect time to hit Chicago - that would be 3 a.m.

Anyway, Lil Man's first appointment was with his pulmonologist, Dr. Rao. We just love her - but she is one of those people who wears you out when you talk to her. It's good she is a pulmonologist, because I was out of breath when the appointment was over.

She had not seen Lil Man since he was in the hospital in Milwaukee in February. At that time, she did a bronchoscopy on him. She made it very clear that she has no MEDICAL explanation how he is still alive with the lungs that he has. We knew there was some damage done from aspirations, pneumonia, multiple times on the vent, and that he has SUPER small airways. She was unable to even get a scope that she uses on 1-3 lb babies down his airway - that is how small they are. I guess we didn't realize the extent of the scarring that has been done to his lungs - although it makes sense. How much stomach acid CAN your lungs tolerate before being permanently damaged? Her exact comment was, "They don't do lung transplants on children with Down syndrome, so we have to stay ahead of this."

ummmmmm - what?!?! No pressure! So, she ordered a chest x-ray (which I assume has come back ok since we haven't had any panicked phone calls) and blood work. She really wants a lung CT, but we have to wait until after our appointment with the nephrologist (kidney doc) to see if he can tolerate contrast for the CT without ruining his kidneys. Yeah! They were also talking about sedating him for the CT, which I talked her out of. She wasn't too hot on the idea anyway, since they would have to have a whole cardiac anesthesiology team in there for a 3 minute test. She was seriously concerned about his weight, and also seems to think that an immune problems makes perfect sense. (He has already been tested, 3 times now, for all types of cystic fibrosis - so that was ruled out.)

Lil Man absolutely LOVES x-rays - of any type. Probably because he has had so many. His favorites are chest x-rays, of course. He sees the little + light that they use to line it up and just freezes and smiles, like he is having a portrait done. So, can we get him to do that for pictures? Of course not! LOL!

So, she also ordered one of those CPT vests. We usually do CPT (chest percussion therapy) - which is exactly like it sounds, beat on him a little bit - a least once a day. It loosens up the junk in his lungs and allows him to get it up and out of there. Well, he needs a little more. We have the vest right now for a 30 day trial to see how it works. Let's just say - it is very interesting. They sent it right to our house and we had a lady from the company come in to train us on it. What we didn't realize is how violently it would shake him!!!!!! He is written for two, 20 minute sessions per day. The vest looks almost like a bullet proof vest, except it is hooked to an air compressor by two hoses. It almost looks like he is hooked up to an old canister vacuum. The air compressor pushes air into bladders in the vest at different intensities, expanding them so that they put pressure on the chest. The speed of this happening reminds me of an ocscillator or and echmo - how fast they pump. In each session, he would have two different intensities of "beating". This is to really shake the yuck out and so he doesn't get used to one intensity, which is why we had to get the vest in the first place.

He seemed to tolerate the vest pretty well - no real screaming or throwing fits - until it was over. I think he was more upset that the training lady was leaving - always has to have somebody to flirt with. Let me tell you, I had to suction him about 15 times that night. Not only that, but it worked on the other end too. :) No glycerin for him that night.

Our biggest concern is how much it truly shakes him. Some time ago, we were told by our original neurologist (whom we really liked) that because of his stroke, seizures, and brain atrophy that we needed to be REALLY careful once he started walking, if we were even in a fender-bender, etc. That we should ALWAYS carry copies of his MRI's with us, because she was afraid if something happened we would be accused of shaking him. She said this because his brain has atrophied enough that many of the veins and arteries that would normally be protected somewhat by brain matter are exposed on the outside of the brain now. It wouldn't take too big of a bump - like a normal child when they fall when learning to walk - to cause those vessels to rupture.

So now we have calls in to the neurologist to decide if we can even continue the vest therapy. It is a real catch-22 - lung damage or brain damage?

The other appointment was one we have been looking forward to for awhile. This was the appointment with the immunologist. Time to try to get some answers about why his immune system is sooooooo sensitive. Well - we didn't really get the answers we were hoping for - I think. Honestly, the jury is still out on this doctor. He was kind of cocky. His opening pitch was, "Well, he DOES have Down syndrome...."

Just once, I want to respond, "Oh my gosh really????? Why hasn't anybody told us that in SIX years???" I restrained myself - barely.

So, he has dismissed all of the infections, pneumonia, etc as coincidence (lots of them). (You can roll your eyes here - I believe I did.) He then went on to explain that in looking at blood work that has been done in the past two things stood out: 1. In all of the white count studies, there were two numbers that were consistently switched all of the time. 2. His antibody levels to vaccines that we know he has had were way below what they should have been. So, the question was , was this a response to illness or is this the way his blood is all of the time? He ordered more blood work that day because Lil Man was feeling pretty good.

He also ordered an antibody study. In the past, they would vaccinate for something obscure like rabies or swine flu of all things. Well, now with the H1N1 going around, they would not be able to tell if you had been exposed somewhere else, and I was NOT going to let him use rabies. He decided to use a tetanus shot - more precisely tetanus, diphtheria, & pertussis and pneumococcal (streptococcus pneumoniae) - this causes pneumonia in the lungs and meningitis if it reaches the brain. So, Monday when we go back to Milwaukee - they will check his blood and see if he produced any antibodies to either of these vaccines and exactly what kind of antibodies they are.

The nurse called on Friday to let me know that the rest of the blood studies, including studies for things like rheumatoid arthritis, all came back normal. The only one that was abnormal was the white cell study. Those two numbers are still switched. The doctor,when explaining this, made a specific point that this is not a cancer. He thinks it is more like an autoimmune disease where Lil Man's white cells are so busy attacking his own body, it cannot fight off any other infection. So what do you do about it? Kill the immune system. Sounds crazy, but we might have to use immuno-suppressents to kill off the crazy immune response. The other option is IVIG therapy.

Normally, children with Down syndrome are not given the option of IVIG therapy. This is one of the 3, I think, clinics in the country that does it. They have come up with a way to do it so that it is not rejected. Basically, it is an immune system transplant or infusion. In the past, a child with Down syndrome, or any trisomy really, would respond to IVIG with a massive whole body rejection. The body looks at it as the same as transplanting an organ. This would be a last ditch effort and one that he said, frankly, is a crap shoot. He would try this, even if all of the tests came back in the "normal" range, just because he believes there is something going on, just not the immune disorder we thought. It would also be a limited time deal - it is either going to work or it's not - 6 months max. The only REALLY scary part for us is that he would have to have a PICC line. He has NEVER had a line that has not become infected - including his last two piccs.

The other thing he brought up is DiGeorge syndrome. This has been brought up before and there are two things: 1. Most children with DiGeorge syndrome don't live beyond their first birthday. 2. He doesn't have the major genetic marker for it. So, where does that leave us? There is a doctor at Duke, who specialized in DiGeorge syndrome. I talked with her a couple of months ago and just wanted to know if possibly there is a pseudo DiGeorge syndrome. What she told me is that although the genetic testing can look for the large marker (I think it is a deletion), they haven't come up with a widespread test that will look for the more subtle genetic changes that can make up DiGeorge syndrome - in short, you can still have it without having the big marker. At that time, she told me to send her the immunology info and she would look at it. She has pioneered a transplant procedure that is allowing children who would have died by their first birthday to go on and live relatively normal lives! So, we are going to have to see if this doctor will send his findings on to Duke and work with her. This may be interesting.

In other news, the Sunday that we came back from these appointments was the heart picnic. We had a great time in spite of the weather. It poured - like biblical amounts of rain. However, there were a good 200 people that showed up for the T.O.U.C.H. (The Organization for Understanding Children's Hearts) picnic. This is their 23rd year of having a picnic for all of the children, some now adults, who have had heart surgery in Peoria. We were able to see several of our nurses, who work in the office. Our Cardiologist and his wife. Cookie, the child life/music therapy singer. She has several CD's out. We just love her. Unfortunately, last year she was in a very bad car accident. She seriously hurt her neck and shoulder, and now is unable to sing or play her guitar anymore. She did go against orders and sing one song for everybody.

We were able to see Joshua, our neighbor for over 6 months. Joshua was a typical little boy, who happened to have transposition of the greater arteries, in other words his pulmonary artery and aorta were switched. He had his open heart surgery at one day old and spent the next 9 months in the hospital. When we toured the PICU right before Lil Man's surgery, Joshua was one day out from his. His little heart was still too swollen to close his chest. We feel very blessed to have seen the inside of this little guy. It was amazing to see his little heart just beating away and his lungs expanding under basically a sheet of saran wrap! Somewhere along the way in his stay, he developed clots in both the jugular and corroted artery. When they tried to get then out, he had a massive stroke. I am please to say that at the picnic, he was walking along holding his Dad's hand!!!!! Amazing!

We got to meet up with another heart buddy, Ian and his family. Ian also has Down syndrome. He is 4, I believe and in school now. He is doing beautifully - except for pesky lung issues. I didn't realize, but his Mom told me that during his open heart while on echmo, he developed pneumonia! Turns out he had been aspirating and all of that was still in his lungs when they did surgery. We met Ian and his family during Lil Man's second open heart. We were old pro's by then. LOL! Anyway, both Ian and his older brother are doing great - trucking right along in school. Exactly what we like to hear! :)

Then there is Princess Tiffany. :) We met Tiffany, her Mom and Dad in the surgery waiting room when we were waiting for them to take Lil Man back for his first open heart. Little did we know what we were in for. Tiffany was 3 at the time and she was there for ear tubes. She had come through her heart surgery with flying colors, and her Mom and Dad were very encouraging. It also helped us to see her bouncing all over the waiting room. :) I can still hear here saying, "baby?" and pointing to Lil Man. By the way, she also has Down syndrome. They are great people, and we will see them again in a few weeks at our Buddy Walk.

There were a few familiar faces missing this year, but it was a great time. Usually all of the PICU nurses come out and the Intesivists and Cardiologists & Cardiac surgeons. However, we heard that the hospital is absolutely FULL of H1N1, so we appreciate them staying away. :)

Speaking of nurses, we have a new one starting Monday night. She came for training last Saturday morning. I REALLY like her. She is only going to work one or two days a week, but that will help. And she is working a 12 hour shift. 9 p.m. to 9 a.m. If I can only get Lil Man on a normal schedule! We still have our favorite nurse, Darcy too. She comes on Fridays and some Saturdays. We LOVE, LOVE,LOVE her! She is part of the family now.

So, bright and early Monday morning, Papa, Lil Man and I head out for Milwaukee. He has an appointment with the nephrologist and the lab. I don't expect anything earth shattering to happen. We will update when we get the chance. Have a great week!

Big Hugs!

Steph

2 Comments:

Blogger Lacey said...

They checked Jax for digeorge syndrome when he was in the hospital for our 4 month hell stay. Of course his came back negative as well. I know a lot of digeorge kids that are living and healthy, so thats interesting about them not living past a year. They also were going to try IVIG with Jax when he was in status. I have absolutely no idea how it would have helped, we never did use it because the diet helped. Sounds like you had a busy couple of days.

September 27, 2009 at 9:35 AM  
Blogger ch said...

Thanks for the thorough update! I always just sit in fascination at your brilliance and christopher's genetic puzzles.

It also makes me so curious as to why pulmonary/respiratory issues are NOT a full on priority when kids with Down syndrome are having their cardiac issues dealt with. I had to become a certifiable pest in order to get LC's open heart surgery scheduled because I was sure that living with a chest full of fluid would compromise her lungs long term...and she ALSO came home with aspiration pneumonia...I'm just always amazed that these are dealt with as 'side effects' rather than priority health care situations, you know?

Looking forward to continued progress for Christopher and what you learn from the blood work coming up.

September 27, 2009 at 5:08 PM  

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