Wednesday, May 26, 2010

Great News from Boston, Even for a LA Sports Fan

Growing up a loyal sports fan in the Los Angeles area, I've developed an immediate smirk each time I hear about the town Boston.  Sure the band Boston was great (I know your humming "More Than a Feeling" right now), but how can this fan support a town whose teams battle my Lakers and Angels year in and year out?  There's no doubt these guys have talent, but rooting for anything from that town is like a Philadelphia Flyers fan rooting for the Chicago Blackhawks in the Stanley Cup.  Happening?  No.

While it pains me to write this, I must admit the tide is changing.  Now you won't see me wearing a Red Sox hat anytime soon (read never) or rooting against Kobe in the NBA Finals, but you will see the Crowleys standing up in applause for our new Boston friends for the following...

Genzyme Receives FDA Approval for Lumizyme for Pompe Disease

Lumizyme is the first treatment approved in the US specifically to treat patients with late-onset Pompe disease.  This includes all patients eight years and older.  While the girls were currently receiving Myozyme, this was only guaranteed until they reached 18, as the product is primarily for infants due to the limited supply of the drug.  Through this approval, Genzyme has secured their long term treatment supply and opened the door for many adult onset Pompe patients who were not able to secure treatment previously.

Here's a link to the press release if you wish to have more information:

On the home front, the girls had their third Wacky Wednesday infusion today at CHOP and everything went well.  They began on time and made it home with enough time to work on their tans and enjoy the Slip-n-Slide. Not bad!

So three cheers to Genzyme and to Boston as you've made this LA fan very happy.


Friday, May 21, 2010

Skee-Ball Wizard

Ever since I was a young boy
I've played the Skee-Ball
From SoCal out to Boston
I must have played them all
But I ain't seen nothing like her
In any amusement hall
That young, tall, and blond kid
Sure plays a mean Skee-Ball

She's a Skee-Ball wizard
There's got to be a twist
A Skee-Ball wizard
She's got such a supple wrist 
When I approached the bank of Skee-Ball machines last night I did so with a high level of confidence.  You see, I didn't grow up with an XBox and PS3, but in the age of pinball and Skee-Ball.  Now I sung this song by The Who several times while I piled quarters into the pinball machine, but could never master it.  However, after several summers killing time at the Balboa Pier Fun Zone in SoCal, Skee-Ball was mine.  I would take on everyone from old blue hairs to the unsuspecting 5 year old cashing in on every win.  No shame, just victory!  So when Emma suggested a side by side challenge at Dave and Busters, I scoffed and responded "Bring it!".  I spoke too soon.

She approached the machine like a pro, swiping the prepaid card with ease and looking at me as to say "sorry old man".  Within seconds those wooden balls were speeding up the ramp and dropping into the 40 and 50 point spots like they were being pulled in.  I crashed under the pressure, barely able to land the 10 point gimmies as I saw my youth and my crown slip away.  Maybe it was the music, maybe it was the lighting, or maybe just maybe she's a Skee-Ball Wizard.

As I walked away in shame, I started to think about expectations and the unexpected.

Last night Genzyme invited us and a couple other Pompe families to Dave and Busters in Philly for a meet and greet.  Before we headed into the game room, we sat around the table and talked about life, Pompe, and medical advancements.  We learned about promising new therapies, Genzyme's commitment to its patients, and more about the people who will be supporting us for years to come.  We learned about other families facing challenges and how they are or are not handling the news well.  Then we spoke about expectations. 

We spoke about what we should expect Myozyme to do (treatment, not cure), what we could expect for the girls (every case is unique), and then we were asked why our family seems to be managing this so well.  I explained that it is based in optimism plus we've researched hard so know where to set our expectations.  I also explained that we now expect the unexpected.

When we made that first visit to CHOP searching for a diagnosis we expected a cold hospital environment, but instead we found an inspiring place full of hope.  When we began to reach out to others with Pompe we expected to find only stories of struggle, but instead discovered a community of patients and parents who remain an inspiration.  And, when we heard about Genzyme we expected to find a typical drug company focused only on profits, but instead we found a team of people, lead by our new guardian angel Dave, who are there to support our whole family. 

Does this make us special?  Far from it.  We've watched others take on long term job losses, children with leukemia, and loss of their parents with grace, dignity, and hope for the future so we've decided to follow the same path.  Its the path that allows us to post Good Day Sunshine instead of Blue Monday and the best way to show our girls that while life has dealt them a challenging hand, it is still one with which they can play and win.

So keep an eye open for the unexpected as what you want in life may not always be what you need.  If you have any comments, let us know.  In the meantime, I'm headed down to the arcade to work on my Skee-Ball game and ask...

How do you think she does it?
I don't know
What makes her so good?

All the best,

Credit to: The Who, "Pinball Wizard"

Tuesday, May 11, 2010

A Day In The Life or Bingo Anyone?

I read the news today oh boy
About a lucky man who made the grade
And though the news was rather sad
Well I just had to laugh

Those who have joined the Crowleys at the annual UH Elementary School Pizza Bingo Night can verify that I am not known for good luck.  This goes for standard bingo, four corners, blackout, and that dastardly little game where the worst player stands tall until his number is called and he drops to his chair in shame.  Yes, even here victory slides through my fingers as I watch some third grader bolt up to the stage immersed in cheers from the crowd.  This is unlike some of my friends who attend year after year, even after their kids move onto middle school, and still find a way to win that gumball machine, tickets to the Reading Phillies or the coveted lunch with Mr. Davis.

Now that I have exposed my shame to the worldwide web, I will tell you that winning is just a matter of perspective.  You see, I read the news today and exclaimed "oh boy" throughout the house when I saw we made the top ten.  Well, more precisely the top nine as Forbes Magazine published a story titled "The World's Most Expensive Drugs".  Fortunately, my good friends at Genzyme nabbed four spots with Fabrazyme, Cerezyme, Aldurazyme and our own Myozyme, all costing over $200,000 per year.

In my excitement I picked up the phone to call all those pizza bingo winners when I realized ... wait ... this isn't that Bowling Palace prize I have always desired ... I have to pay for Myozyme.  Maybe my luck isn't so great after all, until... my friends at CHOP sent me a different story.


I read the news today oh boy
About a lucky man who made the grade

This story is published in The New England Journal of Medicine and is titled "A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease".  I read this news, exclaimed "oh boy" and will do so for many days, months, and years.  You see, until now, most of the published results for Myozyme were based on testing with infants, specifically those facing the infantile form of Pompe.  This study focused on the use of Myozyme with adult onset patients which most closely resemble the diagnosis of our girls.

The report shows that the study population, treated with alglucosidase alfa (Myozyme) saw improved walking distance and stabilization of pulmonary function over an 18-month period as compared to those who did not receive the drug.  So, in short, they proved that Myozyme will continue to work for our girls and all the other adults fighting Pompe now and into the future.  Good news indeed!

For those who are interested in catching up on their scientific reading I have included the link to the study here:

While this news may not be as exciting to some as rushing to the stage and holding that shiny new gumball machine in the air, that's OK.  I may never win standard bingo or even four corners, but will be placing this magical bingo in my shirt pocket, close to our family's heart.  After all, winning is just a matter of perspective.

Game on!

Credit to: The Beatles, "A Day In The Life"