Deep Breath

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.

Forces of Nature

Tonight our area braced in anticipation of a night forcasted for snow.. or at least some "freezing rain". We are such Floridians here... huddled under our blankets and wondering at how people up north ever survive the winter. Though not snow or sleet, we brave other elements.

Winter weather always brings me down. It seems like the cold and damp can permeate even the deepest corners of the mind. I am so thankful that a good cuddle on the coach with my baby boys, a good book and some hot chocolate can do wonders for a case of the winter doldrums.

We can hardly control the forces of nature. There are days when it feels like the forecast will shut us down, close our doors and snuff out the flame that was keeping us warm. I had one of those days today but as Sofie and Bella often are heard singing in our playroom from their favorite movie, Annie.. The sun will come out tomorrow.

Game of Life

Yesterday the girls had an invitation to attend a friend's birthday party. The morning was a flurry of activity in our home. Max, who just turned 2 on Friday, was busy showing me just what a full-fledged 2 year old he could be. My nerves were wearing thin from not enough sleep on top of a head cold. The house was a wreck from a few too many days of falling behind with household flow since returning to work full time. It seems that both parents working coupled with 4 kids can mean certain things fall between the cracks, the floorboards and under a pile of dishes. Additionally our fancy 3 year old dryer has broken down for yet the second time and even sparked a fire. After paying almost $300 for the replaced heating element just last year, we have been trying to get a hold of the appliance repair guy to come back out since it is supposed to be under warranty but have had no such luck and we found out we are not the first ones to have this issue. (I sure wish I had seen the BBB ranking of F on the Honest Appliance Repair company before using him) Anyhow.. I have fallen way behind on laundry and although I am going to the laundromat constantly with heaps of wet clothes, it has hardly been an efficient exercise.

To top the pile that day, Sam was having tummy trouble since waking and I wrestled to get his medications pushed, his pump loaded and his oxygen on before he reached the break down phase of an overdue nap. His naps are like 5 hours long and he really doesn't do well overall if they are shortened. Sam had managed to transition to a twin bed from the crib this week without a single hitch and so for that, I am quite thankful.

Meanwhile, Jason has been spending the last few weekends helping his parents close out his grandfather's home as they transitioned him to a nursing home. This has meant weekends are spread a bit thin around here. With pretty significant car issues meaning we are making due with one car that itself is not in good shape at all with a wedged-on door and a singing belt, I was trying to decide how to share the car with Jason and still get the girls to their function which I knew they really wanted to attend.

We have been a bit like hermit crabs lately in trying to help Sam heal and recover from the surgeries, while avoiding more illness but unsuccessfully meeting that goal as each week some kind of bug hits each of us anyway. While focusing on the boys, I lost track of the time needed to mobilize the girls for their party and when I finally emerged, hoping to find them dressed and ready for the party, instead I found two little girls still in their PJs playing at 'The Game of Life' in our playroom.




Oh, how I felt like I had just played and lost at that same game! All I could do at that point was be OK with a little party tardiness. It seemed so ironic. Jobs, marriages, health, income, businesses, real estate, babies, insurance, crisis, foreclosure and the lottery of it all. Somehow the little pink and blue pegs that fit in that little plastic car don't do justice to what comprises Real Life. Funny, that I actually remember as a kid wondering what would happen to the player who had two many baby pegs to fit in their car...



Where are the backpacks, strollers, oxygen tanks, diaper bags, briefcases and the piles and piles of laundry? Where are the hospitals and therapists and countless appointments, homebound teachers, medical supplies and tubing coming out my ears, and all those binders of nursing notes? Do the parent pegs stay up wondering if the baby pegs will all keep breathing while they sleep? Where are the homemade lunches, signed school planners, reading packets and spelling lists? Where are the grocery store temper tantrums and where is the door on the side of the car that fell off or the burglar who came in to steal your iPad but really stole your sense of personal security?

Dare I ask... but where is Jesus on that board? Maybe there should be a chance card in the pack that reads, 'Congratulations! You were saved by Jesus, despite the chaos of this life!'

So.. after a long day, I am going to focus on how to stay the course. I want to purge the excess, streamline our routine and pray for best solutions to difficult challenges. I am praying for those I know who are also experiencing difficult times.. For a choir friend who has been in a lot of pain; our Sr. Pastor and his wife, who each lost a parent this month; for my friend's mom bravely fighting breast cancer; for another friend about to transition her kids into a daycare and for a fellow Mito family preparing to say goodbye to their little girl.

Fighting a Bug

Sam has been fighting a bad stomach bug this week. Thankfully he has teetered through it without a total crash and I expect in a few days he will be back to his usual self. My biggest concern was over the fact that he just had the cardiac procedures and implanted devices which I know can put him at some additional risk of endocarditus and other concerns. As for these illnesses, we have really learned so much about managing his fluids and keeping on top of his oxygen needs. We have worked to keep him on his pedialyte even when he could not tolerate his formula. As we approached the end of the week, his sister Sofie got wind of the bug and then passed it on to Max as well. So, that has meant lots of fun around here for us all.

This week we also welcomed a few new nurses, so those adjustments while dealing with the bug have been a little tricky, but they seem to be adjusting well. We said good bye to a nurse we have had for over 2 years as she found a job in a clinical setting. She has watched Sam grow from infant to boy and has been a part of all the work he has done overcoming difficult challenges. She has actively helped rescue him from crisis and been there for him emotionally during many painful days. Sammy will miss his Miss 'tina as he calls Nurse Cristina.

School is back in session now and I am busy working full time at the house. I have really enjoyed diving into this new chapter with a new company and I wish this was not a temporary post. I have found I almost never leave the house though. So, I will have to find reasons to break away and get out a bit. There is just always plenty of work to keep me tied to the desk or else caring for the kids. From the messages and emails, I think people are beginning to wonder about whether I fell down a dark well! I really do need to make an effort to get out more for fresh air and some down time with friends. For now, I am just thankful for the work and in light of this recent bug, I am thankful Sam has avoided another hospitalization.