Saturday, April 20, 2013

The Sound of Silence

Hello darkness, my old friend
I've come to talk with you again
Because a vision softly creeping
Left its seeds while I was sleeping
And the vision that was planted in my brain
Still remains
Within the sound of silence

"Fools", said I, "You do not know
Silence like a cancer grows
Hear my words that I might teach you
Take my arms that I might reach you"
But my words, like silent raindrops fell
And echoed
In the wells of silence

It was late 1999 when I first found myself inside that dark, silent place.  A few days before I suffered a Grand mal seizure, was taken to the hospital and told I had a foreign mass in my brain and that only a MRI could confirm what it was.  As I lay there, still as could be, my mind raced.  I was a young father with a potential life threatening diagnosis and all I could think about is having more time to be with my wife and watch my kids grow.  At the same time I was no fool.  I knew that my case did not look good and that the pictures appearing on the radiologist's screen were beyond my control.  So, I paused, prayed, and told myself to breathe.

In early 2000 the diagnosis of a brain tumor was confirmed and surgery followed.  The day after my doctor told us it was not what he expected, but was better.  It was a benign tumor and other than a long recovery and continual monitoring, I should be OK. For many years to come I again found myself in that dark, silent place.  Despite the noise all around me, I heard nothing but my prayers that the scans would be clean and I could walk out with another year of hope.  Years past, the MRIs stopped, and my doctor confirmed the tumor was not returning.  While I celebrated that moment, I never forgot the feeling of that room and would use it as motivation to overcome obstacles for years to come.  Never did I imagine I would find myself in that place again, this time on the outside looking in. 

Earlier this month we returned to the University of Florida to continue Emma and Maddie's observational studies with Dr. Byrne.  As each time before, the girls underwent MRIs to monitor a series of things including the size of their heart and the level of glycogen in their muscles.  This time a new study was presented with the objective to determine the capability of their diaphragm.  For those who don't recall, the diaphragm is the main muscle of respiration, helping the lungs do their work.  We rely heavily upon it so if the diaphragm is impaired, one's breathing can be compromised.

A common side effect of adult onset Pompe is weight maintenance.  For those who are naturally thin, Pompe can leave one appearing under nourished, almost gaunt.  This does not seem to impact Maddie, but it does Emma especially when she is not feeling well.  In response to this challenge, we reinforce a high protein diet with necessary supplementation of protein shakes, etc.  Regardless, she hovers around the same weight.

Now don't get me wrong.  The girl can eat!  In fact, we have a running joke that she always buys the most expensive and usually largest meal each time we go to dinner. The girl is a foodie, not afraid of trying something new or shying away from meals even her brother couldn't finish.  

I consider myself a moderately intelligent guy, but remained puzzled by her challenges to gain weight.  As I would sit and watch her down meals that would leave me signing up for Jennie Craig, I could not understand why she never gained.  I know some readers out there are thinking "I wish I had that problem," but when the result could mean nighttime feedings via an IV bag, this father was concerned.  So, as we sat eating lunch with the wise Dr. Byrne I tossed out the question.

He explained that if someone has a compromised diaphragm, the rest of the body compensates to ensure breathing continues.  He then explained how Emma and a normal person are different by comparing the feeling one has after a strenuous exercise, where you can barely breathe, to the feeling one has at rest.  Think about it. In the first situation you can barely talk because your muscles are working so hard to get air in your system while with the second you hardly notice.  Emma, he said, lives in the space "between" at all times.  While we're relaxing or sleeping, our breathing goes on without issue and our metabolism is slow.  On the other hand, because of Pompe, Emma's muscles are working as if she is walking up a steep hill.  Even when she is sleeping her body is on exercise mode and her metabolism is churning away. She struggles because her body is over compensating.

Now back to the MRI at U of F...

The new study focuses on the effects of muscular dystrophy on the diaphragm.  To date the doctors have monitored children with Duchenne muscular dystrophy and now Pompe.  During the MRI, they place a vest on the chest, measure the diaphragm at rest, in normal activity, and under stress.  As I sat behind our doctor and the radiologist I watched them measure the girls' diaphragms while they held their breath, took deep breaths, and breathed normally.  The last was fascinating because the screen showed their lungs, chest muscles, diaphragm, and heart in action.  I watched the essence of what keeps them alive wondering and wondered what the specialists were thinking. Was everything normal?  Were there areas of concern?

The results came back positive.  As expected, Maddie's performance was a bit better than Emma's, but both were acceptable and much better than ones they've seen before.  It turns out that Maddie's love of singing was a great diaphragm exercise and that we needed to work with Emma to do something similar.  Who knew?

In the end I am very relieved to know we are participating in yet another way to monitor their progress along the winding road of Pompe.  Hopefully this will help them and others in the long run.  At the same time, as I sat and watched them in that dark, silent room I could not forget the past.  I never thought my kids would one day be lying in the same place I did years before and hoped their minds did not race the same way mine did.  I hope they were strong.  I hope they were confident.

In that moment I hope they paused and prayed as the doctor whispered "breathe" ... Within the sound of silence

Credit to: Simon and Garfunkel, "The Sound of Silence"

For those who may not know this song, it is a long time favorite of mine.  Please be sure to check it out on iTunes or YouTube.