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"