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”