Sam has been trucking right along lately and just came through another battle with a stomach bug. It was pretty miserable around here for all of us but Sam actually made it through without too much trouble this time... thanks to lots of pedialyte and round the clock naps. Watching Samuel sleep is always difficult, with or without illness, and recently more discussion has surrounded the sleep breathing issues. What begins as a gentle tugging can at times escalate to a full out battle to breathe. I recall those first days of life when we peered over that bassinet in the Neo-natal Intensive Care Unit, meeting our 8 lb beautiful baby boy for the first time, listening to people defining obscure terms like "retracting" and "respiratory distress". It was all foreign to us then. We watched Sam struggle for every breath and noone could explain the reason. We still wish we could fully understand his breathing issues, but particularly those connected with sleep.
It is funny how we take breathing for granted.. it is supposed to be automatic but when you consider that the first thing we have to try to do during stressful situations is to take a moment to breathe in and out.. slow and evenly. To take one breath at a time. There is some feeling of control gained through measured breathing. The rise and fall of our chests seems rhythmic most of the time but once it becomes erratic it can rule us entirely. We can't do too many other things if we are having to focus on our breathing. Sam's breathing has a rhythm all its own and I guess he is used to it but it certainly takes its toll on us.
For me, breathing is at the heart of stress control. These days, I slowly breathe in the unexpected. The joys, the laughter and the saving graces. The concerns and disappointments. I feel cleansed by inhaling good news, even when I know there may be bad to follow. I try to avoid breathing in the smoke of negative thinking and denial. I exhale the worries, the things I can't control.. material and financial barriers. In my opinion, respiration really rules the kingdom and it seems our boy has an enemy at his gates.
Samuel's pulmonologist often explains that he exhibits clear signs of an abnormal, pathological imbalance of aerobic (with oxygen) and anaerobic (without oxygen) respiration. I personally had only heard the term anaerobic in association with those tiny organisms living at the depths of the ocean floor but it seems we all utilize both forms to some degree. Really these fancy words were meant to explain that Sam's cells rely too heavily on creating energy that does not mainly originate from oxygen molecules. His mitochondrial specialists think they have pinpointed defects in the oxphos respiratory chain which show that he does not convert oxygen and food properly into ATP.. which (put too simply) is how we make the fuel or energy our organs need to survive.
Sam depends too heavily on anaerobic metabolism and the negative of this alternative path is the toxic waste it creates and the effect that has on his body. We all use both forms of respiration but an example of relying too heavily on anaerobic would be to see the metabolic threshold breached by extreme athletes as they overload their aerobic ability to fuel muscles from mainly oxygen intake. Imagine that in the last leg of the race where the Olympic track runner has pushed forth to cross the finish line with almost impossible strength but then collapses after that final leg. They likely shifted beyond a normal amount of aerobic and anerobic respiration to depend too heavily on the anaerobic ability to meet the demand. The incredible fatigue they experience after this expenditure is natural and they will recover but they could not have existed long term on that method alone due to the damage it would place on their organs. It seems the cellular biproducts of imbalanced respiration sets off a chain reaction that ends in cell injury and cell death for kids with Mito. What we all think is so simple, the so-called building blocks of life, providing the cells with the nutrients while breathing in and breathing out... well, it is really so much more complex. I can study this stuff all day long, but it is in those late hours of the evening when I watch my sweet boy dreaming that I know how very complicated this mechanism is for him.
Sam is due another sleep study in the coming months. When Samuel breathes there is a unique "peeping" sound that is heard upon expiration (when he breathes out the carbon dioxide). They tell me this is due to his problems with proper gas exchange and specifically a long held suspician that his symptoms indicate Central Hypoventilation. Central Hypoventilation is a problem originating from the autonomic nervous center of the brain effecting his respiratory function which is where many of his other issues also originate. They call the collection of those issues Dysautonomia. Central Hypoventilation is usually caused by a Phox2B genetic defect (which Samuel does not have) or by damage to the brain stem or some other unknown source and we don't know it's relationship to mitochondrial dysfunction. We do fear the other related conditions but can't take in far reaching concerns as we still don't have the basics fully worked out. We know that one day when do understand how all the pieces fit together, the picture may not be one we want to see. Not knowing all the answers makes treatment more difficult. In the last 6 months we have had him on an additional med, Topomax, that is sometimes used for seizures but is the newest thing they are trying for apnea control. I don't think it has helped and would rather drop this one off our list but we await the nexr study for clues.
We continue the exhausting needle-in-the-haystack search for answers and going to Houston has seemed to breathe new life into this search. The team there wants us to undergo a new break-through set of testing called whole exome sequencing which might hold all the answers. We soon found this out of reach as Samuel's insurance swiftly denied the opportunity after we had provided Baylor with all of our samples for testing. It is a sad thing when the answers to what is plagueing your child and how to help him comes down to the cost of $15,000 testing that some analyst over at the insurance company has decided is not approved.. ironic since just a few days of his many trips to the ICU have cost far more than this test. Maybe we would gain answers that would help us limit such hospitalizations in the future or maybe answers that would help other children one day. So we wait and hope that maybe as this testing becomes commonplace as is expected, it will become feasible to attain for him.
For now, when he sleeps, over about 13-15 hours a day, we moniter his breathing and oxygen levels closely, raising his oxygen liter levels from 1 to 2 with signs of peeping or distress. We usually see improvements with the supplemental oxygen but it is hard to know if we are fully covering his needs. He expires his breaths with a tension that seems so unnatural, like each is held back by an invisible net. We have discussed BiPap with the pulmonologist and yesterday his peditrician described that he had seen kids years ago with similar conditions find relief in an iron lung. I hope further mechanical ventilation is not necessary and certainly hoping more invasive action does not become necessary in his future. I will never forget his surgeon telling me when he was 2 months of age that they were not certain they would be able to extubate him safely and were considering sending him home with a trache and mechanical ventilation.
Those were particularly hard days that I never want to revisit. This picture above is a difficult reminder of that very dark day when Sam was coded multiple times and we really had no idea if he would ever breathe on his own again. I thank God every day for blessings of overcoming dark days. I am thankful that God seems to keep breathing new stamina and hope into us each day. For some reason I think we have never needed it more than we do right now, which is ironic since Sam is more stable right now.
I pray for fresh breath of optimism and hope for all the people I know who need it and for strength for those experiencing very difficult trials. I keep thinking of a family I know who have had several losses since Christmas. My good friend's mother is bravely fighting cancer and yesterday was her birthday. I hope this next year is far better than the last few months she has endured. I am thankful for the blessing that we all are well now and hopeful that this season of illness passes as we know so many fighting respiratory and flu bugs. I am also praying my thanks for the gifts God has blessed me with and tonight that came in the form of a sweet boy laying on my chest, long eye lashes against his soft cheeks.. breathing in and out. Peace on Earth.. even if his breathing may not appear so peaceful.
