So this past week we went to the Center for Autonomic Medicine in Pediatrics (CAMP) headed up by Dr. Debra Weese-Mayer. This team was awesome! These guys know their research and love data, my type of people.
In summary: Luke was at the edge of respiratory failure at his current breath rate (60-90 bpm) and CAMP got him off the edge and he is now on the ventilator 24/7 but breathing at normal rates (12-25 bpm) all the time!!! We are in the process of getting new monitors and a new ventilator and getting creative about how to get the vent to go with Luke as he is mobile and loves to explore.
CAMP specializes in CCHS and ROHHAD, two other hypoventilation syndromes. Luke has alveolar hypoventilation, neurological in origin just as his other issues are, but they still took him on and we are VERY grateful. When Luke arrived he was breathing really fast and the CAMP team thought he was at the edge of a cliff and could have diaphragmatic fatigue and shut down at any point. They also thought from some pupil studies that he was scared a lot becuase of this fast breathing and never really being able to slow down and catch up. On Tuesday they did studies that found that he does have an intact drive and responds to O2 and CO2 as a person should. There may be a little something off as his behavioral responses were not always clear but the physiological ones they were measuring were clear that his chemoresponsiveness was intact. His unclear behavioral responses were than when they tested him watching his show on the iPad and then no watching his show, he was didn't show nearly the behavioral responses to the tests (they tests distress you and your behavior should show that) when he was watching a show on the iPad as when he wasn't.
When Luke fell asleep off the vent he is still breathing but it is very dangerous. He is working so hard that he is not only pulling air in from his trach but also from his mouth and causes his mouth to move and is causing obstructions becuase the negative pressure he causes when pulling air in is so strong that it pulls his trachea closed. He breaths really fast and has a trach so it is not very noticeable but it is happening. Not good. Now he is on the vent 24/7 so I don't have to make sure I always have a vent incase he falls asleep becuase he will always have one on.
So basically his body wants to keep its O2 and CO2 levels at a good place and it will do anything to do that. In his case he was breathing REALLY fast. We are not sure why his body is unable to take big deep slow breaths on its own to keep his stats where they should be. There is just so much we don't know about the neuromuscular system and the effects of Moebius Syndrome. So we don't really know why his body can't keep his stats where they should be with normal breathing. We just know they can't and at CAMP they played with his vent settings a lot to figure out the best settings for him.
When they put him on the vent, maybe Monday afternoon (they had to get good data first to figure out a baseline and compare) and he was breathing something like 20 bpm it was amazing to me! He had not breathed that slow awake EVER! The implications of this could be huge. Think about what he could do and how he could develop if he isn't putting all of his energy into breathing just to survive. I am really excited to see what he will do in the next few weeks and months.
Luke's heart rate variability, which you want to be variable, got more and more variable and towards normal as the week progressed. Remember he started the week with no ventilation and breathing over 60 bpm and then on Monday afternoon he was put on the vent and started breathing a normal breath rate for the first time ever. The other things that was off and started becoming normal throughout the week was his pupils. They measure pupil size, constriction velocity, retraction velocity, and the amount of change. At the beginning of the week he has bigger than normal pupils that were slow to constrict and dilate. Each day they measurements normalized and that as well as the heart rate variability increases shows us that the ventilation is good for him. Yeah!!
They found that his regional blood flow to the front of his brain was good indicating that he has nice cerebral regulation so this means that O2 levels are being kept at good levels for neurocognative functions. Sometimes I felt that she didn't think he was normal cognitively as she kept telling us she was helping his brain and development in ways like he would become normal cognitively and we know he already is. I am hoping that this helps with the autistic issues we are seeing with socialization, sensory issues, and repetitive behaviors (although we found that 10% of Moebius people have repetitive behaviors with no autism at the last Moebius conference). I am also thinking that his gross and fine motor skills may take off as he is not spending so much energy breathing so his body can concentrate on developing other things.
The neurophsycologist fell in love with him and wrote a note to Dr. Weese-Mayer about how much she loved him. Parents are usually not welcome for testing as we tend to answer for our children so I was not present for his time with this doctor. However, Kevin stayed to help interpret Luke's signs and responses as he is good about only giving information when it is needed. ;) We don't have the results from this test back yet but will next week. I am very excited to see as she and Dr. Weese-Mayer thinks that she will be underestimating Luke based on the tests and what will happen now that he is getting support for his breathing all the time.
Luke's iron has been an issue for awhile and no one has given us any answers. We had them order an iron blood test when they were doing other blood work and there were some things that may need to be addressed by a hematologist. There are lots of things on my list and one is to talk to our primary care about it and a possible recommendation to a hematologist. However, maybe this will get better with better ventilation as well.
Luke did NOT like all the stickers and belts placed all over his chest, face, and head every morning and night and then taken off in the morning for a good bath. His skin is not looking good and he will be getting a good oiling up every day until he is healed.
Another good things about this is that Luke has some great physical endurance. He went on laps around the hospital in his walker, while the team followed behind with his vent and monitors on a cart and someone to record his readings as we went. He did a lot of exercise even when he was already tired and did great!!! This is awesome news and the tiredness he had before was most likely because he couldn't do all that physical activity while trying so hard to breathe.
The poor body didn't sleep very much Sunday night or Monday night for his sleep study. On Tuesday instead of messing with him a lot for his sleep study they just let him sleep which he did okay at. On Wednesday and Thursday nights they mainly just tweaked his settings and he slept better each night. They wanted to do more but becuase he didn't sleep well they just wanted to make sure he got some. They said he may not ever sleep well as in the literature with Moebius (and I know by talking to people with Moebius) that people with Moebius do not have good sleep patterns, mostly becuase the parts of the brain that are affected by Moebius are right near the sleep center of the brain. Dr. Weese-Mayer did say that when they got ROHHAD patients ventilated correctly and taken care of their sleep issues went away. I am hoping that happens with Luke as well.
Most people have Moebius plus, like Luke and not just a strait 6th and 7th cranial nerves not functioning. These nerves are in the brain stem and there is so much that goes on there that whatever caused the 6th and 7th cranial nerves to not word correctly usually hits more stuff as well. Everyone who has Moebius is a little different and there is a lot we just don't know.
One of their theories for Luke (and probably others) is that when his body is stressed becuase breathing is such hard work then the autonomic nervous system starts having problems and not functioning normally. The autonomic nervous system has a few levels and controls the functions of the body that we don't have to think about, i.e. breathing, heart functions, digestion. Luke's heart is looking better and I am hoping that his digestive system gets better and his poops will normalize as well by taking all the stress off of the body and supporting him with ventilation 24/7. We have been struggling with poops for awhile and things have been getting better but a little bit of stress usually throws it way off. I think this is the first long car ride and trip to the hospital that we have had without bad poops. Yeah!
So on to his vent settings now. He has different ones for awake and asleep and will have a CO2 monitor as well as an O2 monitor. He may even get different settings for awake active and awake calm. We changed his settings from a SIMV mode to assist control mode. On the SIMV mode it was supporting the breaths he was taking and making sure he was taking a certain amount. If he took a little breath this would count and delay the big supported breath the vent would give him as the minimum. CAMP found that when this big supported breath was delayed by his little, not very helpful, breaths that he would have uneven breathing and pauses in breath that were creating times where his oxygen saturation was dropping. This was not good at all. So on the assist control mode he gets his mandatory breaths but every breath he takes the vent will give him as a big supported breath. I may not be explaining this well but basically he will not be allowed to have pauses between good breaths that can cause his oxygen to lower. They also changed his inhalation times and some of the other settings as to how they are giving him breaths. He will be getting 0.5 L of oxygen at night. They said this is becuase when ventilation him without oxygen at night they could keep either his CO2 or O2 levels in the right range and so they got his CO2 leves right and then are giving him oxygen to keep those up.
He also got a new trach. He does not have a flex tend, which extended the trach beyond his chin, but has one that is flush with his neck and also it is cuffed. The cuff is inflated just a bit at night to prevent air leaks. They tried inflating it during the day but he didn't like it and was doing find without it inflated. Uninflated will also allow him to make noise around the cuff. They said his trach could be bigger but right now they want him to be able to make noise.
They did find right ventricular hypertrophy which means that the wall of his right ventricular in his heart was thicker. This is due to stress and a episode of low oxygen where the heart and to push extra hard to get enough blood and oxygen into the lung. Dr. Weese-Mayer said it is reversible and she expects it to reverse with this good ventilation where there will be no hypoxic (low oxygen) episodes.
So, we originally went to CAMP thinking we would be getting diaphragm pacemakers to replace Luke's vent. We decided against putting pacemakers in at this time for a number of reasons. First, the right ventricular hypertrophy can be dangerous when going into surgery. Second, Luke can have a lot of secretions and the negative pressure of the pacemaker is more than what he currently has and there is a high risk that he could aspirate his secretions. Hopefully with better ventilation and time his secretions will be less and this risk will diminish. Third, Luke does have intact drive to breathe and so he has something to lose if there is nerve damage or other complications to the process. People with things like CCHS do not have a drive to breathe in many ways and thus are going to be on ventilation for the rest of their lives for sure. Luke has that drive and since Moebius gets better with time and with proper ventilation he may get better and grow out of the need for ventilation. And fourth, these new ventilation settings are a lot different. We want to see what he will do with this and what and how much things will improve for him with these new settings. So we are not saying no forever to pacemakers, just no for right now. Luke's nerves and diaphragm respond in the correct ways that the pacemakers are possible. We did talk to the surgeon and would be ready to go when the time is right.
With all these changes we are also looking to up the amount of nursing we get and have nurses during the day to help me transport Luke and his equipment. I am very unsure about this and having more people in the house all the time but I said I would give it an honest try and have an open mind.
My mind is going a million miles an hour trying to figure out how to keep Luke and our family active with the added equipment and tubing connections. As Dr.Weese-Mayer says, take it one day at a time and just try stuff. She thinks I am pessimistic and I just wanted to know how to function with the vent and a mobile child as I will have to do it right away. We are still collecting info on what type of cart to make for Luke to be able to push his own equipment around. Kevin is a great designer and builder and I think has a lot of ideas already. My mom has sent us links to pictures of other kids things as well.
This next week will be busy getting the right equipment, figuring out how to move things around with Luke, and figuring out how to do school. We can do it, I of course want to know all the answer right now. I am learning patience again. I must say, even just getting to Kevin's parents house and moving Luke around here was not as hard as I thought.
We did take a walk around Chicago and ride some glass elevators with Luke after we checked out. He loved being out and looking at all the really tall buildings. He didn't really care much about the glass part of the elevator but liked the numbers. Us adults enjoyed the glass elevator ride though. Luke did like being close to glass railings and looking down 10+ floors though. :)
There were a couple of times that I got to walk around Chicago. I walked Michigan Ave. and many streets around there. It was very nice to be able to see Lake Michigan and walk part of the lake walk one day as I feel much more comfortable when I am close to a Great Lake or a large body of water.
And you may be wondering, "Where is Hannah?" She has been with grandma and grandpa Wright living it up in Grand Rapids. She has been to the museum, planetarium, Meijer Gardens, the pool, shopping, and more. She has been having lots of fun and we will get to see her beautiful face and get big hugs tomorrow.
We will be getting a full written report next week from Dr. Weese-Mayer and probably more details and things that I have forgotten already in trying to process it all. Luke is just waking up from the best night sleep that he has had in quite awhile!