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.

Thursday, April 11, 2013

I'm So Tired

I'm so tired, I haven't slept a wink
I'm so tired, my mind is on the blink
I wonder should I get up and fix myself a drink
No, no, no.

I'm so tired I don't know what to do
I'm so tired my mind is set on you
I wonder should I call you but I know what you would do

You'd say I'm putting you on
But it's no joke, it's doing me harm
You know I can't sleep, I can't stop my brain
You know it's three weeks, I'm going insane
You know I'd give you everything I've got
for a little peace of mind

A few definitions:
Pompe Disease = Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages.

Mononucleosis = a common illness that can leave you feeling tired and weak for weeks or months.

Pompe + Mononucleosis = A nasty mix which leaves you with just one thing to say ... I'm So Tired!

Back in December 2009 I first mentioned Mononucleosis in the post The Long and Winding Road to Diagnosis which outlined Maddie's diagnoses with Pompe.  As a reminder... "In May 2009 Donna noticed Maddie was losing some hair so took her to the pediatrician who ran blood tests to see if she had a thyroid problem, mono, or another issue that might be linked to hair loss."

At that time mono was ruled out as her blood tests showed she had already had it when she was young girl.  It was then that I first learned that mono was more than a kissing disease.  It is typically spread via saliva so one could get it through sharing drinking glasses, eating utensils, and even toothbrushes.  At the time we did not know Maddie had mono because the symptoms were similar to the aches and pains of a cold and she likely spent the days just relaxing like a little one usually does.  We also had no idea that mono + Pompe would return and would pack a punch.

In late 2012 we noticed Emma was moving a bit slower than normal, complaining about being tired, and wanting to take some time off school.  Now Emma is many things, but a complainer and slacker aren't among them.  I've often marveled at her ability to manage through stress and strife with a smile on her face and a quiet confidence, so when she started to complain we paid attention and made a doctor appointment.

When we arrived at the doctor Emma explained that she was run down, achy, nursing a low fever, and struggling to get through her day without wanting to nap.  As the symptoms could cover a wide variety of things, Emma was run through the usual battery of tests for the flu, strep, sinus infection, and even bronchitis.  All came up negative, but assuming it was an infection of some type we were given a prescription for antibiotics, told to head home, check back in a few more days. 

Those few days past, Emma finished her meds, but there was no progress so we returned to the doctor and asked for help.  Then, he introduced a new idea.  What about mono?  The nurse's daughter had just gone through a long bout with it and though not common, it seemed to be going around.  While it was good to hear we might have a diagnosis, it wasn't too promising for a girl with a muscle disease.  It was guaranteed to last a long time and take everything out of her.  There were no antibiotics and no magic pill to take.  You just had to wait it out.  We left with a scrip for a blood test and hope that mono was not coming to visit.

The diagnostic test results were clear... 100% positive for mono.  It didn't take long for us to notice a decline much more severe than we expected.  She stopped making it to school, sleep most of the day, became weaker, and slowly depression set in.  There were days she could barely make it up the stairs and lacked the strength to get out of the car.  There were others that she stayed in her room all day and all night trying to stay positive, but so exhausted she couldn't leave her bed.  

As you can imagine, this became very scary for Donna and I as we wondered how long it would take for her to get better and if her weeks missed from school might jeopardize graduation.  A quick call to her muscular neurologist set us straight.  We were told a muscle disease (aka Pompe) + mono was one of the worst combinations one could have.  Her body was already weak from the Pompe and the exhaustion plus lack of movement was only making it worse.  Our expectations of Emma regaining her strength in weeks was misguided.  She would not feel better in time for spring.  In fact, she might not feel better until college!  

This seemed a bit extreme to me, but our specialist reminded us how long it took Emma to recover from our trip to London.  While busy days at the Olympics and crossing the London Tube left the rest of us a bit achy, Emma was exhausted and overwhelmed.  By the end of the trip, she struggled to keep moving, and by the time we got home she spent days upon days in bed trying to recover.  It was then that we learned that while our bodies walked three miles her's felt like she ran a marathon. 

So, after receiving a medical release for her missed school, Emma  settled in for the long haul and focused not on feeling ill, but on feeling better.  Day by day she looked for the positive.  Emma showed her maturity by staying in touch with her specialists and following their recommendations to eat well and stay active so muscle atrophy would not cause long term problems.  So a couple times a week, she got dressed with her best workout clothes and braved an exhausting five minute walk on the treadmill.  It still seems crazy, but that's all she could do.

This week she's returning to school full time and we're starting to recognize our old Emma again.  That familiar smile has returned, that laugh is back in the house, and she's off in the car to rekindle friendships that took a backseat to mono.  We are relieved to see our daughter back and she seems relieved to be feeling a bit better.  Most importantly, she's up in the morning, putting a smile on her face, taking on life and no longer saying ...

     I'm so tired!

Now that's a reason to celebrate!

Credit to: The Beatles, "I'm So Tired"