Monday, June 27, 2011

Once In A Lifetime

And you may find yourself living in a shotgun shack
And you may find yourself in another part of the world
And you may find yourself behind the wheel of a large automobile
And you may find yourself in a beautiful house, with a beautiful wife
And you may ask yourself-Well...How did I get here?

Letting the days go by, let the water hold me down
Letting the days go by, water flowing underground
Into the blue again, after the money's gone
Once in a lifetime, water flowing underground

Wikipedia defines déjà vu as the feeling that one has already witnessed or experienced a situation. While I don't believe in previous lives, old souls, and all that stuff, I must admit to having that déjà vu feeling before.  While strange, it can be somewhat comforting especially when you try to figure out what to do next.  If I have been here before it must all work out, right?  Unfortunately, I could not find a definition for the feeling you have when you realize you have just driven a few miles on a familiar highway without thinking.  Or, that feeling when you are taken back by sad news you never expected.  When these times happen, you take a look over your shoulder and say, “Well...How did I get here?”  Last Saturday was such a day.

I fondly remember summer camping trips when I was young. Each year, my mom would load up the tent trailer with food, my dad would tie 112 bikes to the top, and we were on our way. Sometimes, we would take a long drive into the woods and spend our nights shooing away the mosquitoes, but most times we would find ourselves at a seaside campsite a few short hours from home. Fortunately between our large family and our cousins, there were always many kids to play with and plenty to do. Each morning began by sitting at the picnic table for cereal, each day filled with adventure out in the water, and each night finished around a campsite listening to the adults talking about the old days. If you were to drive by our site during that week you would not have seen anything special, just an old tent trailer and a tent or two.  It may not have been anything impressive to the eye, but I guarantee you that for a little boy, it was magical.

A few months ago the girls were invited to attend the MDA's local summer camp. In between appointments at CHOP, the rep told them all about the fun they would have, the friends they would make, and the gentle feeling of being with other children all leaving their daily concerns behind.  She said others raved about their stay with terms such as "best week of the year", "well worth it", and "Once in a Lifetime!"  We are not much of a camping family these days. We have spent a weekend or two at the local KOA campground, but not regularly and never in a summer camp environment. As our family resides on the west coast, we tend to spend our summer vacations there, far from tent trailers and far from the Pennsylvania woods. So, when they heard about it, they jumped at the chance.

Last Saturday was drop-off day for the campers. We had prepared over the previous weeks by gathering all the necessary supplies and speaking with the girls about the week ahead. We knew this would not be the camping trip I remembered as a child for a couple reasons. First, we would not be there with them and second, they would be surrounded by kids facing sometimes similar and sometimes much more severe muscular challenges than theirs.  We wanted them to be prepared for what they may see and what they may feel. 

As any parent, it is always a balancing act between preserving innocence and opening the door to the real world. This has become tougher for us over the past year or so as we found ourselves dealing with issues we never expected.  Our kids continue to amaze us with their strength and commitment, but we did not want to leave them on their own, separated into difference cabins, without preparation. There were times they were 100% committed to go and a short time when they were worried.  What I found interesting is they did not resolve this concern by only speaking with us, but by discussing it themselves. While we were busy doing dishes they were upstairs discussing their fears and decided to face them together.  When I was their age camping, I was busy trying to decide between Sugar Smacks or Captain Crunch, never anything like this.  When we heard them we knew it was time to let them walk the balance beam on their own.

When we drove in and parked our car, I saw what I expected: a few kids in wheelchairs, a happy group of volunteers, and a beautiful campsite. There was a grand hall, gymnasium, a pool, and a series of cabins. I told myself to relax; this is going to be great!  But when we entered the registration hall, it hit me.  Suddenly, we were surrounded by doctors and nurses, children of all ages with severe muscle disease and weary parents carrying boxes of medication that their kids must take each and every day. I had met these people before at events and had spoken to them about our story, but this was different. This was not my story.  This was theirs and I felt like a foreigner.

I couldn't stop asking myself how we got here and where the days had gone. It seemed like only yesterday that I was walking Emma to first grade with a huge smile and without a care in the world. Everything was going great. It was the American dream…three healthy kids, a great marriage, good job, and a new house. I never could have predicted this one.

In the middle of my irrational moment, I caught a site of the girls’ faces. They were laughing with their counselors and smiling for pictures with the other kids. They did not feel like foreigners, they felt like they belonged.  I realized then that all the while we had prepared the week for them, I had not taken a moment to prepare the week for me. I had not taken the time to realize that while this would not be the seaside campground I remembered as a child, the magic of camping was still all around.  This was their magic.  The one they would remember for years to come.

I don’t think my experience is unique to summer camps, muscle disease, or Pompe.  Each of us has had our own moment when we look over our shoulder or into the mirror and wonder why.  This could be over the illness of a child, loss of a parent, a job, or any other thing that was truly unexpected.  Each of us has our own cross to bear and the beauty of life comes from how we live with it.

We did not hear from them all week. This was not because they were discouraged from calling home, but because they were too busy having a blast! Unfortunately I was not able to be there for pick-up day, but Donna told me there were lots of tears, lots of hugs, and lots of promises to come back next year. As soon as they got home, they had several new Facebook friends and even more stories to tell. When I asked them to look back and sum up their week, the message was clear. It was...

Once in a lifetime!

Stay positive,

Credit to: The Talking Heads, "Once In A Lifetime"

Tuesday, June 21, 2011

I Fought The Law

Breaking rocks in the hot sun
I fought the law and the law won
I fought the law and the law won
I needed money ‘cause I had none
I fought the law and the law won
I fought the law and the law won

I left my baby and it feels so bad
I guess my race is run
She's the best girl that I ever had
I fought the law and the law won
I fought the law and the law won

I'm not much for reality TV in general.  I try to shy away from the Real Housewives of Orange County, the Jersey Shore, the Bachelor, and especially Toddlers with Tiaras.  Seriously, what is up with those moms?  However I must admit once in a blue moon I've been captivated by Lock Up on MSNBC.  This is the show where they visit one crazy, scary prison each week and talk about life behind bars.  I usually cannot make it through an episode before I have to recheck all the locks, pull the covers over my head, and furiously count sheep before I head off to sleep.  So, you can imagine my fear when Donna mentioned a MDA fundraiser named Lock Up. 

She explained that the MDA contacted us to participate in a fundraiser where we would be locked up until a local person raised enough money to set us free.  I'll be honest that in some strange way I've gone from postponing MDA events to looking forward to them.  Standing in front of a crowd and telling our story is a bit cathartic, but taking my family to some prison and getting locked up did not sound like fun.  I've seen those guys on TV and they may be twisted, and maybe even interesting, but never fun, but OK...

At the day of the event I punched the address into my GPS and surprisingly arrived at a local restaurant, not a prison.  I was thrown off when we had to take photos behind bars, but was happy that we were immediately set free.  When I walked in, found the buffet, fresh coffee, and no scary guys with handcuffs I felt even better.  What I learned is that the MDA has run these events with local business people for years.  The gimmick is not that we were locked up, but rather the business people are. They agree to raise a few thousand dollars and show up at the restaurant to make calls until they reach their quota.  Our job as members of the patient community is just to thank everyone for coming and explain how their efforts can impact a local family.

In the end, there was no parole board, no gray walls, and no scary guys.  There was just a welcoming environment filled with people doing their part to make the world a little better.  Perhaps I should keep this in mind next time I pass by MSNBC and on my way to the Survivor.

Scroll below to see our mug shots.

Happy summer,

Credit to: The Clash, "I Fought The Law"

Friday, June 10, 2011

Getting Better

I've got to admit it's getting better
It's a little better all the time
I have to admit it's getting better
It's getting better
Since you've been mine

They say misery loves company.  Unfortunately, I’ve sometimes found this to be true when it comes to people facing the tough issues in life.  It is far too easy to play the victim and become bitter instead of looking the challenge in the eye and daring to fight on.  There’s no doubt that life with a chronic disease is not all wine and roses.  I see it in my own house when days filled with exhaustion or weakness can darken the brightest mood.  While I wish these days never came my daughters’ way, they will continue.  However, when those days arrive I ask them to get back up and remember a time when the light shined and filled them with hope.  Fortunately for our family, the sun always shines in Gainesville.

About a year ago we took our first trip down to Gainesville, Florida to meet Dr. Barry Byrne.  Dr. Byrne is a leading expert in the study of Pompe disease and continues to be an inspirational guide for our family. In the early days when we found ourselves drowning in all the details of Pompe, Dr. Byrne was there to hold our hand, calm our fears, and get us back on track. Because of his guidance, we not only started ERT treatment with our eyes wide open, we also signed up for a series of clinical studies through his lab at the University of Florida.  These include a long-term observation of those with cardioskeletal myopathy, CRIM status study, effects of immunogenicity for those taking enzyme replacement therapy, and others.  Our goal for these studies is to learn more about the progression of this condition and somehow play a role in improving knowledge for others.

One of the requirements of the observational studies is to visit the University of Florida over the course of five years.  While this may seem like a chore for some, Dr. Byrne and his staff are outstanding professionals and even better people, so making the trip has become a time for us to recharge for the Pompe challenges ahead.  So what does one do on such a trip?  We spend two days walking from side one of University of Florida to another with stops to complete MRIs, pulmonary function tests (PFTs), physical therapy studies, and hold discussions on the latest research and promising therapies in the future.  Last year brought us an education, but this year brought us even more.  This year brought us signs that things are getting better.

Day one started early with Sarah meeting us in the hospital lobby.  The agenda was clear.  Donna and Carter would be joining Emma’s adventure into PFTs and physical testing while I followed Maddie to the MRI building.  While Maddie lay in the MRI machine for nearly two hours having her legs analyzed and watching Finding Nemo, I chatted with three members of the team.  We talked about their life at University of Florida, their research, our life with Pompe, Gator football, and debating whether Nemo is the best Disney movie.  After we finished, we all met up for a lunch sponsored by Genzyme.  This was an expected opportunity to catch up with the staff we haven’t seen for a year.  Lucky for us it was also a chance to meet a couple other Pompe families.

The first family had a young daughter who was diagnosed with Infantile Pompe.  They brought her at a very weakened state and under his care has rebounded.  Her parents spoke about how happy they were to be there and their thankfulness for the team.  The second family is one we have been looking forward to meet for some time, George and Gina Fox.  Their son Phoenix has the infantile version of Pompe as well, but is several years older.  Their family was there to prepare for a game-changing event – gene therapy.  Like some Pompe patients, Phoenix’s weakened diaphragm does not allow him to breathe on his own so he uses a ventilator.  Gene therapy is an experimental process where modified DNA is injected into a specific area so it will allow the body to replace the genes which are missing.  The goal of this specific process is to strengthen the diaphragm to a point where he can have increased breathing capacity.  If this is successful, it would be a major step forward for Phoenix and for many others across the Pompe community.  As we spent time with the family over the course of two days, we could see the love George and his wife have for their son and their commitment to make things better.  (For more information on Phoenix Fox and the gene therapy work at UofF, please click the following link: the-promise-of-a-new-home.)  

Day one continued with a few more tests and then dinner with the UofF team and an Aussie named Brad.  We pulled up to dinner at Satchel’s Pizza (, and arrived at one of the most interesting pizza spots ever.  Satchel’s is a mix of 60’s throwback artwork, the Sanford and Son salvage yard, and pretty good pizza.  After touring the shop, watching the kids play on the playground and wandering the parking lot’s artwork/salvage yard, we climbed into the tree house with Dr. Byrne and members of his team and their family for dinner.  Tree house?  Of course!  Where else would one eat pizza in Gainesville?

So back to our Aussie friend...  Brad is a native Australian who was recently diagnosed with adult onset Pompe at the age of 44.  After months and months of campaigning to the Australian government, they refused to cover the cost of Lumizyme, so he found his way into a new six-month clinical trial.  He left behind his wife and kids Down Under and headed to sunny Florida where he will stay until September completing the requirements of the clinical study.  Moving across the globe to spend 6 months alone may sound crazy to some, but when your choice is fighting to improve your life for the benefit of your wife and kids vs. waiting to become wheelchair bound the choice was clear to Brad.  As with any decision in life, there results are not guaranteed, but this way the odds are in his favor.  It was great meeting Brad, hearing his awesome accent, and gaining a sense of his commitment to his family and to others with Pompe.  Meeting him was particularly good for Carter because they were able to discuss hunting alligators and boxing kangaroos.  How cool is that?

Day two began with a switch with Emma off to the MRI and Maddie to the physical therapy lab. Fortunately Emma’s MRI process went quicker and we had some down time to spend with the great physical therapy team including Donovan.  I’m not quite sure how to describe Donovan unless I take a bit of Jim Carey, a bit of Dwight Schrute (from The Office), and whole lot of childhood energy.  Donovan runs the physical testing lab and somehow makes pushing your feet this way and bending your arm that way, one of the funniest things you’ve ever done. I know funny and Donovan is funny.  The kids laughed all the way through their exams and by being so relaxed their results came back better than last year.  Wait!  Maybe there is a method to his madness?

At the end of day two the Crowley clan joined up with Dr. Byrne, Brad, and George at La Tienda, our favorite Mexican food restaurant this side of El Farolito in Placentia, CA.  After a great dinner and great discussion about life, George headed off to the hospital to see Phoenix and we headed off to Mochi for dessert.  Last year Dr. B introduced us to Mochi, which is a frozen yogurt place where you have the option of various toppings from Trix cereal to fresh fruit.  After we enjoyed it last year and Dr. B surprised Maddie on her birthday with a freeze-dried package of Mochi yogurt, we promised ourselves we would return.  It was a perfect way to bring our trip to an end.  Here were a group of friends, one from Florida, five from Pennsylvania, and one from Australia, all laughing about the past two days, talking about all the exciting things going on in everyone’s lives, and promising to see each other soon. 

As we drove away the next morning, heading back to our regular life in PA, we were a bit sad.  Somehow our unexpected adventure with Pompe has awarded us the opportunity to enter the lives of some fantastic people and we wished we could be around them a little longer.  We must have done something right to meet people who share such a noble goal of improved health for those fighting Pompe and who pursue it with love, inspiration, commitment, and laughter.  So thanks to the entire UofF team: Dr. Byrne, Lee Ann, Sarah, Donovan, Jenna, Lindsay, Barbara, Dawn, Stacy, and Soren.  We hope to see them again soon and wish the best to the Fox family and to Brad as they continue their battles.

If you are ever in the neighborhood, I recommend you drop by Shands Hospital at the University of Florida.  It doesn’t have the fountain of youth or a magic medicine to cure all your ills, but it does have some great people who have once again convinced us to keep our hopes up because with their help the future will continue to be…

Getting so much better all the time!

Thanks to all and Go Gators!

Credit to: The Beatles, “Getting Better”