First, I want to ask everybody to stop over at
Jaxson's Fight, and send
Jaxson and his family some love and prayers.
Jaxson is going in for a
tracheotomy today. We are asking for prayer for 1. smooth sailing through surgery and recovery, 2. Peace of mind for
Jaxson's family, especially his Mom Lacey, 3. That this helps some of the swelling in his neck and face and that he can start feeling better. We can imagine how
Jaxson's parents are feeling as we have been dodging this one for a couple of years now. We still are. Hugs to all of you!
I also would ask that you stop over and say some prayers for
Lindsay Dean. She is a
beautiful little girl and she and her family have really been through the mix. Her Mom and Dad took her to the ER yesterday and she was flown to Ann Arbor, as they think she is rejecting her heart transplant.
Last Friday, we went to Peoria for follow-up GI and Endocrinology appointments.
Endo was pretty uneventful. No changes, no demands. GI is always a different story. We weighed Lil Man, and he was 23.2 lbs or 10.55K (for those who like medical lingo). Since our last GI visit in Peoria, that was a gain. HOWEVER, since his last weight in Wisconsin two weeks before, it was a loss of 1 lb 4 oz. The only thing that had changed was the fact that in that 2 weeks he had grown 7/8
th of an inch - almost a full inch! He does this all of the time - saves up his growing and does it at once. He can either grow or gain weight, not both. So, he is now 38 7/8 inches long. Long and skinny.
I want to preface this next part by saying that we absolutely love Dr.
Halabi. He listens to us and doesn't get "territorial". If he can't do something in Peoria, we go to Wisconsin - no questions. He said to me, "What do you think about putting him in the hospital for a calorie study?" Before I could think, I responded, "I think I don't have time for that right now." Followed by silence.
LOL! I explained that we were meeting the new
neuro on Tuesday, and he had a therapy
eval that we have been waiting on since March on the first of November. Add to that, the swine flu and we aren't going anywhere near the hospital for just a calorie study (which we have done 6 times in the past 3 years). However, I also explained that we have at least 3 other docs in Wisconsin who all want to do things, but don't want to be the "one" to put him in the hospital and knock him out. Quote of the month is, "If he has anything else done, I want to......." So, we resolved that Dr.
Halabi would call Dr. Rudolph, GI Director in Wisconsin, to see what he thought and if there should be any other tests run while we are there.
Tuesday brought another trip to Milwaukee. We were there EARLY! We left here about 3 a.m. Lil Man had a lung CT scheduled for 9, and I wanted to be early because they were going to have to put in an I.V. I knew it would take a little time. After we convinced the Radiologist that , Yes, the
Pulmonologist REALLY wanted the CT WITH contrast the way she ordered it, they finally got the IV in. They didn't do too bad - only two tries. Once Lil Man had recovered from that, we went in for his CT. I had my camera with me, but forgot to bring it in there. I really wish that I had.
I have said before that Lil Man LOVES
xrays of almost any type. The originally wanted to do the CT with sedation because they didn't believe me that he would lay still for it. They got out a warm blanket and wrapped it around him, then they wrapped what looked like a long diaper changing pad around him and the table. He was wrapped up from his armpits to his knees with his hands above his head. I stayed in there with him. He was getting more excited by the minute. They also had one of those projectors that is just really a light with a rotating disk in front of it. It projected fish up on the CT and made it look like they were swimming. He wasn't too impressed with that, but when they raised the table - look out! He was just grinning and laughing! The only thing he moved was his mouth when he talked or laughed. He could move, even wrapped up - he just didn't. The table would move in and out of the machine once or twice then stop. He would lay there for a minute then start yelling "Tree, Tree!!!" - which translates to "THREE!" He wanted that table to move.
**Note - we have been practicing counting by counting down when we do something. He is obsessed with lights, so we count 1, 2 (sometimes he will say two), then he yells "TREE!" He is now interchanging "Tree" with please -
LOL! When he says it, he expects something to happen."
Next, we met the new neurologist, Dr. Jacobson. We realized when he walked in that we had actually met before when Lil Man was inpatient. We went through the whole history and Lil Man impressed the doc with his contortionist tricks and the fact that his kneecaps have seemed to
permanently re-locate themselves to the side of his knee. He used to be able to pop them back and forth and we would try to keep them in the correct position. In the last 6 months or so, the tendons have tightened up there and now they are
permanently stuck on the sides of his knees. Anatomically, he shouldn't be able to bend his legs with his kneecaps this way. He seems to prefer it. I think I'm getting T-shirts printed with "I've never seen this before" just to wear to the doctor appointments.
So, we found some interesting things with fresh eyes. Dr. J said that just by looking at Lil Man's
MRI's (which we have since he was 6 weeks old), he can't tell us
definitely that he has had a stroke. He can't rule it out either and thinks it is highly likely that he did. He also explained that Lil Man's brain is smaller than normal - even for "typical" Down syndrome. He said that it is very likely that it formed this way as it is perfectly formed, just in a miniature version. He has no
explanation for that and said that is a very rare
occurrence. Really? It is even more rare that he has the
abilities that he does. Just looking at that aspect, he would have expected to see a child who had no purposeful movement, no "connection", nothing. That is before we are talking about stroke or anything else.
So, we have that, then the stroke, then the seizures - which have been controlled for awhile. It sounds like we were
extremely lucky on that front too. I don't know if I have written about it before, but when he was first diagnosed with seizures they were listed as infantile spasms, which are
extremely difficult to control. I didn't think this diagnosis was correct, as we have been able to keep them under control for the most part, but this doc is learning towards that diagnosis again. It helps that the doses of seizure
meds that he is on would be toxic to adults. He has also been on the same dosage since he was 9 months old. The doc asked about that, but I had to point out that he was 21 lbs at 9 months - he's only 23 lbs now. Its working and there is no need to adjust for weight right now.
Dr. J also explained that the congenital Heart defect would have affected the perfusion (blood flow) to the brain. We knew that, but you forget about those "little things" when you have so much going on. Any time his
sats dropped below 75, there was an insult to the brain. So, for the first three months of his life, he had decreased perfusion from his heart, thousands of seizures per day, possible stroke, and several times a day when his
sats dropped into the 30's or 40's. We had to get them back up without the aid of oxygen because if we would have put the O2 on him, all of the blood would have rushed into his lungs and all of the vessels would have burst. He would have bled to death and drown in his own blood. Oh yeah, then he was aspirating every time we fed him. He was drowning anyway. The aspiration episodes were over and above the other
de-
satting episodes (which were probably from seizures and/or apnea) . Holy Cow!!!
So what does all of this mean? Well, he says that Lil Man
definitely has
myopathy - or his muscles are not able to form. There could be three thing causing this. 1.
Muscular Dystrophy - he was able to rule out many forms just by the fact that Lil Man is alive at almost 6, can move purposefully, is not vent dependent, and can swallow. More will be ruled out when we do our next swallow study. Dr. J says that there are several types that can be ruled out/in based on the movement of the muscles in the throat when you swallow. He also ordered a couple of muscle tests - one non-invasive type of
EDG, the name escapes me, the other they put needles into the muscles and run current through them. Frankly, I can't remember if this tests the signals from the brain, or something to do with how the muscles contract. This is done under sedation for obvious reasons - OUCH! He also ordered a muscle biopsy.
While they have ruled out many forms of MD, there are still lots to test for and they can only do one at a time - an insurance thing. Each one takes 4 to 6 weeks, so if you have one of the more rare forms, it could still take years to get a definitive diagnosis.
2.
Damage to the hypothalamus. This is the part of the brain that controls the autonomic nervous system - breathing, nerve control in body and things like your autoimmune system. This also makes sense because of all of the weird happenings with the immune system and bone marrow. Most often damage happens because of a tumor. There were no signs of any kind of tumor in any of Lil Man's
MRI's and this is something that has been happening since birth. So if it WAS a tumor, it would have shown up by now. Two other possibilities are the
repetitive brain insults as discussed above and that maybe his just didn't form correctly from the get go. Neither theory is too far outside the realm of possibility here.
3. Third theory was just the
cumulative effects of repeated insult to the brain (dropping
sats, crashing, seizures, strokes, etc.). He had a very long name for this that I can't remember for the life of me, but he did say this was exceedingly rare. However, the next thing out of his mouth was that we specialize in rare. Honestly we have been asking if this hasn't been the problem since before Lil Man's first
birthday. Nobody wants to really take responsibility for telling us yes or no. This is the first real conformation that we aren't totally out in left field for thinking this way.
4. I guess there could be a 4
th scenario, which is some sort of combo of the above. We KNOW there is damage because of all of the "stuff" that has happened, so I guess the 4
th scenario is really a given now that I think about it. He could still have a specific MD or mitochondrial disorder (those are tested in the same way MD is with a muscle biopsy - it used to be they were all grouped together as MD disorders - now scientists know that the mechanism is in the mitochondria for some of these diseases and they have been
separated out)
Where does that leave us? Still with questions, but feeling a big weight lifted off of our shoulders. Funny how you can be happy about a diagnosis like this. Dr. J said that he does not feel that Lil Man is suffering from "Failure to Thrive" - his inability to gain
weight is NOT a GI issue. Now we just have to convince GI of that.
LOL! Seriously, he has other GI issues to worry about,
FTT has just pretty much been eliminated as one of them.
We are at the point now, where we really need SOME sort of answer. We are fine with it not being an MD or
mito and "just" being brain damage. I don't need a big long name - I need to know are we spinning our wheels trying to treat him for
FTT? Immune disorder? Bone marrow failure? If he will never produce the muscles needed to walk, then our therapy goals should be more about making sure we capitalize on what his body WILL allow him to do and get it done correctly. If it is fairly certain that we need to work on holding a crayon a different way or that he will never be capable of climbing stairs standing up, then we need to be working on getting him to hold a crayon with an adapter and teaching him to crawl up the stairs safely. If bone marrow failure is some
hyperstimualted response to infection/illness because of damage to the hypothalamus - we just have to accept that it is what it is and go on. There IS no treatment for that and we are wasting out time trying to find the "failure" in the marrow. The "failure" might just be in the brain.
I know that last paragraph sounds as if I am frustrated, really I am not. I am excited that we may FINALLY be on the right path - even if it takes us awhile to get to the finish. There are other considerations that are whispered and nobody likes to talk about. Many types of MD are fatal, same with
mito. You can treat the symptoms, but the disease process keeps marching on. If we find that he has something that most people don't survive past X number of years - then we have to adjust our expectations again. We are always living on the edge in our house. We have no guarantee that Lil Man will be here tomorrow. Appointments like this remind us of that fact, but we still plan for his future the best we can. To not do so would mean that we failed him. I have goals in mind for him in the future. He doesn't get too much of a break on learning life skills and self-help skill just because he is sick. To not teach him how to take care of himself and his things would be a HUGE disservice to him. But, we may not worry so much about preparing him for a job that he could do from home, or how to count change, or getting to X level of work in his studies and spend time
playing gamesor reading a book together or making other memories instead. It is hard to read and even harder to think about, but it has to be done. We are becoming pros at this.
Another thing that Dr.
Mentioned is that Lil Man has the classic chest and abdomen of somebody who does have MD. When he lays down, his chest is shaped like a bell, it flares out at the bottom. We are ahead of the game, though, in that Lil Man can and does cough to clear his airway - where many people with certain types of MD cannot. Some go on to lose this ability - it is just something we will have to watch for. He did say that the majority of people who die that have MD, do so because of things like pneumonia, aspiration, etc. Not
necessarily the actual MD. We pretty much already try to protect against that with everything else going on.
Whew! Sorry for such a long post, but we are finally getting somewhere. It is much easier to send people here or to the carepage to read this info on their own time than to try to explain it 50 times.
For those who are local, it is 9 days until the Buddy Walk. You can still sign up and/or donate. Just click on Firstgiving badge to the right of the page. For those that signed up before the T-shirt deadline, I am going to pick them up tonight. I will get with you to see how to get them to you. Thanks for sticking with us! LOL!
Hugs!
Steph
