Sunday, October 24, 2010


Blackbird singing in the dead of night
Take these broken wings and learn to fly

All your life

You were only waiting for this moment to arise

Black bird singing in the dead of night

Take these sunken eyes and learn to see

All your life

You were only waiting for this moment to be free

Blackbird fly, Blackbird fly

Into the light of the dark black night.

When our family arrived at yesterday's MDA Muscle Summit at the Camden, NJ Aquarium I unexpectedly felt comfortable.  A year ago we would have politely excused ourselves from a room filled with people facing muscular dystrophies and moved to the room with all the "normal" people.  At that time, we did not yet have Maddie's diagnosis and believed everything was going to be taken care of in short order so we could move on with our lives.  But, this is a new year and our new life so we entered the room, with my presentation in hand and hopes for a good day.

As a young kid, I remember watching the MDA Telethon on TV. Jerry Lewis and a never-ending group of entertainers did their thing hour after hour while the money kept rolling in. While I was outwardly sympathetic, I have to admit that selfishly I was happy not to be one of Jerry's Kids.  I had no idea what the MDA organization was or what muscular dystrophies were back then.  I just knew it did not look fun.  So, I turned off the TV and headed outside to run, ride my bike, or play football; all the things those poor kids weren't able to.

Shortly after the girls were diagnosed, we received a informational packet in the mail from the MDA.  It nicely explained all the services they provide, spoke about camps, loan closets for medical equipment, and had photos of kids and adults all dealing with illnesses I was not familiar with. I set this aside like any other junk mail.  "This must have been sent to the wrong place," I thought.  "Our girls have Pompe, but they surely can't be one of Jerry's Kids."  That was a bit too much for me to accept so I filed it away and quietly promised myself to forget it. 

A few weeks ago our Genzyme rep contacted me to ask if we would attend the MDA Muscle Summit and if I could talk about our family's experience with Pompe.  Me?  Talk at a MDA Summit?  "Sure, I could come up with a few things," I said, all the time wondering why we would belong. In preparation I reviewed our past year, gathered some photos to share, and quietly filled out the girls' membership papers.

I've given more than a few presentations in my day.  In fact, it is one of my favorite things to do.  A few jokes here and there mixed in with some technical knowledge works every time.  "Work the crowd as usual" I told myself, "after all look at what we've overcome."  But, as I took the podium I was suddenly nervous.  I quickly realized this was not going to be my normal work crowd or one of my usual sales presentations.  This wasn't even a group of people only facing Pompe, many of which I have met and share a kinship.  Instead, I was in front of a parents with concern on their faces, adult patients and their spouses, and child after child watching me from their wheelchairs.  This was a room of blackbirds with broken wings yearning for the opportunity to fly.  My usual icebreakers fell from my mind as I searched for a way to reach them. 

Thanks to my son Carter, it quickly became OK.  During my first slide, with photos of the kids, I asked each of them to stand and be acknowledged, but when I got to Carter's picture he was no where to be found.  Just as I scrambled for the right words I saw him through the glass wall grabbing a quick brownie.  As he entered the room, I reintroduced him and he gave his classic Carter head nod and peace sign breaking the whole room into laughter. 

My first slide "The long and winding road" told the story of the girls' diagnosis, their amazing strength and our attempts to manage it all.  I then thanked our support team ranging from our medical teams at CHOP and the University of Florida, our friends in Pennsylvania and New Jersey, and of course our loving family in California.  When I clicked to the next slide "We can work it out" my plan was to proudly tell everyone that the treatment regimen of enzyme replacement therapy + diet + exercise works and that tomorrow's research for Pompe disease showed promise.  However, as I looked out at the faces I realized 90% of the room did not have a treatment and some had very limited hopes for research.  So, I toned it down and tried to encourage everyone by explaining that Donna and my recent visit to the Rare Disease conference in Bethesda offered hope for everyone.    

I closed the slides by outlining the lessons we've learned over the past year.  These were a) be your own advocate, b) get connected to the patient community, c) rely on your family and friends, and d) life goes on.  From the faces in the crowd I could tell this last point caught a few by surprise.  "Life goes on?"  "Are you kidding me?"  I explained that despite all the challenges we face, life does goes on.  While the life we know today is not what we planned it to be, it is still OK to smile, OK to laugh, and OK to be happy.  It is not only OK, it is essential.

To close out I shared a short video Donna and I put together of the friends we have made and the heroes we have met over the past year to the tune "You've got a friend in me" by Randy Newman.  This was a way for us to say thank you and show that through this all we can still laugh.  Here is the link if you'd like to watch it. 

After the presentation we spoke to a few families.  First were the dedicated husband and wife who each Monday drive 2 1/2 hours each way for their Lumizyme treatment.  Second was the teary eyed father of a 19 year old with Limb Girdle muscular dystrophy who needed someone for him and his child to connect with, to talk to, and to understand.  Third was the 16 year old boy with Charcot-Marie-Tooth Disease (CMT) who hopes to finish a triathlon before his body forces him into a wheelchair and who convinced the girls that they should attend the MDA summer camps.  There were many more who thanked us for sharing our story with seriousness, caring, and humor.  We exchanged a few email addresses, a few phone numbers, and then were on our way.      

We arrived home mentally and physically exhausted, and headed off to bed.  Somehow this morning we all woke up rejuvenated.  We woke up with stories about different people we met, our thoughts about the day, and plans to attend the upcoming MDA events.  Somehow I went from a father tucking away the MDA folder, denying the idea of Jerry's Kids to one ready to embrace the new life no matter what.  Pompe has brought us sadness and concern, but it has also brought us new friends and a feeling of empowerment we never expected.  As strange as it may sound, maybe I can finally sing the last few words of Blackbird in agreement.  Maybe, just maybe ...  

All your life

You were only waiting for this moment to arise,
You were only waiting for this moment to arise,

You were only waiting for this moment to arise

Thanks to the MDA for all the great work they do. 

Keep up the fight,

Credit: The Beatles, "Blackbird"

Wednesday, October 6, 2010

We Can Work It Out

Try to see it my way,
Do I have to keep on talking till I can't go on?
While you see it your way,
Run the risk of knowing that our love may soon be gone.

We can work it out,
We can work it out.

Life is very short, and there's no time
For fussing and fighting, my friend.
I have always thought that it's a crime,
So I will ask you once again.

Last Saturday morning I did what a busy dad rarely has time to do, sit on the sofa and watch TV.  Fortunately there were no morning games to run off to and the lawn told me it wanted to enjoy another day looking unruly.  As I clicked channel after channel I found endless debates.  There were debates about politics, about the NFL, about the MLB playoffs, and even an informercial debate on which detergent will give you the whitest whites.  Did you ever notice these debates never end?  There's no need because there is always time for another argument.  However, when it comes to rare diseases there is only so much time for argument.  On the other end of the real debate is not a concerned mother wondering which detergent will remove Johnnie’s football stains.  It’s a concerned mother wondering how much longer her child can continue to face a disease the doctors know little about and can do nothing for.  Scientific debates are necessary, but sooner or later it is time for action.    

Donna and I attended the Conference on Clinical Research for Rare Diseases in Bethesda, MD last month.  The purpose of our trip was to catch up with a couple people, but it turned out to be much more valuable.  To say I left the room inspired is an understatement.  Me?  Inspired?  You bet!  Between the presentations we heard, the people we met, and the promise for the future, I left confident that when it comes to solutions for rare diseases, We Can Work It Out!

The first presentation was by Jannine Cody, PhD.  Dr. Cody was a mother of two children just like some of you reading this.  What’s different is her daughter was born with a very rare chromosome abnormality called 18q-. When she was born, the Codys were told she would lie in a frog-like position in a vegetative state and have a normal life span.

So what did Jannine do?  Sit back and complain that she got a raw deal?  No.  She realized more research needed to be done and that no one was doing it.  So, she started the Chromosome 18 Registry and Research Society ( and enrolled in a PhD program in Human Genetics to become an expert in her daughter’s disease.  When her daughter was born, doctors told her 18q- affected less than 60 families worldwide.  Today the registry lists more than 2,000 families and funds over half a million dollars a year in research.

Next, there was a panel discussion on how to coordinate efforts between researchers and patient advocacy groups.  The important message was that, for rare diseases specifically, patient advocacy groups play an important role in moving research forward.  The patients and parents are the ones living day to day with the challenges of rare disease and are often the ones with the best network and the latest news on treatment success.  The message to my friends in the Pompe advocacy community is clear.  Keep up the work!

After the presentations, we spent some time catching up with some old contacts and meeting some new ones.  The first was Dr. Byrne and members of his research team whom we had met last summer during our visit to the University of Florida.  Dr. Byrne is a leading Pompe researcher who knows everyone there is to know in the field and who truly cares about our girls.  We spoke about their progress; success of the Lumizyme treatments; upcoming clinical research possibilities at Genzyme, Biomarin, and Amicus; Emma’s High School activities; and Maddie’s last soccer game.  Dr. Byrne gets it.  Pompe is a big part of our life, but it is just part of our life. He understands we don’t have two Pompe patients.  We have two beautiful girls who happen to have Pompe.   

After sitting with Dr. Byrne we ran into Dr. Carsten Bonneman who used to be at CHOP, but is now head of the Neuromuscular and Neurogenetic Disorders of Childhood Section at the National Institutes of Health.  With a bright smile and a hug Dr. Bonneman met us in the hallway as he headed onto his next meeting.  We caught up on Dr. B’s move to the NIH and promised to see him at his new facility some day soon. 
That was enough for one day, but the meet and greet continued.  Remember I mentioned Dr. Byrne knows everyone?  Well that includes the Head of the Rare Disease program at the NIH, a Vice Chair of Research in Pediatrics at the Oregon Health and Science University, a Member of the Board of Directors of the MDA, and John Crowley.

For those of you who know the history of Pompe, the name John Crowley is familiar.  John has two children born with infantile Pompe and after holding positions at Novazyme and Genzyme, is the President and CEO of Amicus Therapeutics.  We wanted to meet John to thank him for his work, discuss his thoughts about the new developments in Pompe and share some experiences.  Thanks to John and Dr. Byrne for setting up this meeting and taking the extra time.  Although we are not related, our Crowley ancestors are from the same county in Ireland, so I imagine they shared a pint or two in their day and discussed truly important things like, Gaelic football.

Finally, it was time for dinner and John Crowley's keynote speech.  John did a nice job outlining how we got here and how we move forward.  The message was clear.  The existing clinical drug development process just won’t work for new rare disease developments.  It is too expensive, takes many years, and requires stringent test protocols are not always workable for ultra rare diseases. Improvements must be made. Thankfully, there are visionaries out there ready to buck the system, ready to make things better.  In the end, he remains positive that with the teamwork of industry, research, and patient advocacy, we can improve the system and discover the next treatment.

Now do you understand why I left inspired?  While today's struggles of facing rare diseases remains, the future is promising.  It’s promising as long as people like those above continue to make it their life’s work to bring treatments to those who don’t have them, improve treatments for those of us that do, and perhaps one day, stand tall and proudly say the word “cure”.      

With thanks to all the researchers who continue to believe We Can Work It Out,
Matt Crowley

Credit: The Beatles "We Can Work It Out"