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"