Month: November 2018

“We will send this off to insurance and once approved, it will only take six to eight weeks for results to come back.” We have heard this statement on six different occasions now. In case you were wondering, it’s never “only six to eight weeks for results to come back.” And for Rowan’s next round of testing, the expected turn-around-time is six months. SIX MONTHS—as-in half of a year… Have I mentioned I’m not a patient person?

Once we go through the hoops of insurance approval, sample collection appointments, and sample procurement, the clock starts. The clock that’s impossible to get off your mind. The clock that ticks away at a snails pace just to mock you. The clock that feels like an eternity has passed from second to second when talking in terms of weeks—but now months? I suppose I should become accustom to life without sleep.

Here comes the wave of what ifs… What if the results are positive? What will that mean for his future? But what if the results are negative? Will there be more testing? What will the time on THAT clock be? Is a negative result the goal? Is it a relief?

Contrary to popular belief, a negative result is often our biggest fear. While in some cases it can be immensely relieving, most of the time, it means more testing, more waiting, more worrying, more tears, and most frustrating—no answers. I feel as though I’m stuck on a carnival ride, screaming to be let off, but failing to be heard as I endlessly go round.

Don’t get me wrong, in the beginning the quicker the negative results pile grew, the more ecstatic I became! I thought, we’re just going to get all of these tests out of the way, and with time, they’re going to find out that maybe, just MAYBE, there is nothing wrong with our son. Maybe he’s just catching up from being a preemie. Maybe he’s just stubborn. Maybe the doctor’s are overreacting. But as time went on, the problem became the hope we held in “maybe.” At this point, Rowan is collecting more than just negative results—we have specialists, therapists, doctors, and more. And it’s become glaringly obvious that something is going on. I just wonder how much longer until “what” is revealed.

I think it’s a common misconception that no news is good news. For instance, if there isn’t a diagnosis, there isn’t anything wrong, right? I used to feel this way, but it was short lived. Ultimately, the unknowns can be more terrifying than the reality that lies ahead. How can we help our son with his struggles if we don’t know what those struggles will be? 

Geneticists and Genetic Counselors have told us that there is gene therapy for some conditions if caught in time. A neurologist has told us that if it’s a muscle energy deficiency, there are medications and stimulants to help. But without knowing the “what”, there is no solution. And a harsh reality is for SEVERAL conditions, even with a diagnosis, there may still not be anything more we can do.

My maternal instinct is to go into detective mode to solve the problem. I mean, after all, I know him better than anyone else so surely I can research more and harder, or magically Google the right combination of words until the holy grail of diagnoses appears before me on the screen. But alas, I am not a doctor… And Googling never ends well. Trust me, my husband would block the site from my phone if he could. So, I eventually find myself emailing Rowan’s specialists my latest batch of research to see if they think a certain diagnosis could be “the one.” As mentioned, I know I’m not a doctor and I know I need to just let them do their jobs… But I am a mom, and waiting endlessly without a course of action is an impossible task to execute. 

Coming back full circle, our clock for six months has now begun. We’ve been told this next test, trio whole exome sequencing, is our best bet. It will test all 20,000+ genes from Rowan, Dereck, and I. If it is a known genetic condition it will identify it. However, it only has a 40% success rate. If it is something extremely rare that has not yet been identified it will not provide answers. They recommend re-testing annually at that point for new added conditions. We’ve been told it may take YEARS to find an answer. And as daunting as that is, we just have to be patient and pray for answers in His timing. Wish me luck as I start this next bout of sleeplessness.

Ro has had two surgeries now and three sedations in his short time here on this Earth. And as much as I thought they would, they don’t get any easier… If anything, they become harder as he gets older and more aware. 

The first surgery was a pretty major one. Rowan has severe ptosis and without the surgery his brain would have cut off connection to the eye causing amblyopia, blindness in one eye. Leading up to it my husband and I went back and forth so much. We were clinging onto a false hope that it would improve on its own with patching alone. 

The night before I don’t think either of us slept. As I laid in bed, sipping a glass of wine I thought would help combat my fears, all I could do was watch our son sleep. With all of the unknowns from genetics to neurology, it makes every single “simple decision” difficult. Besides, I’m the type of person who can’t even pick a restaurant, now I have to make big medical decisions for someone else?! But, that wasn’t our top concern—we were most nervous for anesthesia, and that’s what weighed on me through the night into the early morning hours.

The surgery was successful but the day was filled with many mixed emotions—fear of the outcome, anxiousness for results, anger from his multiple pricks of failed IV attempts, anticipation and excitement to finally see him with both eyes open… But once the feeling of relief wore off, guilt started to creep in. 

Seeing him come out of anesthesia successfully is always a HUGE relief, but the heart-wrenching cry of pain that follows instantly fills me with guilt. He doesn’t understand why mama is holding him down for IVs or why he wakes up uncoordinated and in pain. And in the middle of the night, in a state of sleep deprivation, there is no reasoning with myself… All I feel is guilt for consenting to his pain and I have no better words for him than a continuous loop of “I’m Sorrys.” Thankfully time, healing, and results help us to know we are making the right decisions and the guilt slowly fades away. 

This second surgery this past week has been rough though. At 14 months he now knows he hates needles. He HATES being held down even more and he can squirm around and kick so much harder.

Rowan is now considered a “MH precaution.” Because of his level of muscle weakness and his unknown diagnosis he is considered high risk for having a life threatening reaction to anesthesia gasses as well as succinylcholine, a specific type of anesthesia so he cannot be exposed to them. This means the IV must go in beforehand while fully awake and the room must be specially prepped with all machine lines flushed. The anesthesiologist explaining this to us RIGHT BEFORE surgery was terrifying. 

I need time to process things and sometimes we don’t get that opportunity. This surgery was supposed to be fairly simple. I wasn’t supposed to cry so much this time. Well once again I was wrong in my expectations of emotions. I cried more this time. Holding my fearful baby down while lying in the little hospital bed with him was not something I was prepared to do but it was something I needed to do. 

I guess my point here is there are always things we don’t think we can handle but we just do them without question because it’s what is best for our child. I was his safe place in that moment versus a stranger in scrubs. So at the end of the day I really, really hate the emotional rollercoaster of surgeries but I’m thankful for the medical advances that make them possible. I’m thankful that he won’t remember either of these surgeries when he’s older. And I’m thankful for a husband that holds it all together when I can’t.