Thursday, December 30, 2010

Changes

I watch the ripples change their size
But never leave the stream
Of warm impermanence and
So the days float through my eyes
But still the days seem the same
And these children that you spit on
As they try to change their worlds
Are immune to your consultations
They're quite aware of what they're going through

Ch-ch-ch-ch-Changes
Turn and face the strain
Ch-ch-Changes
Don't tell them to grow up and out of it
Ch-ch-ch-ch-Changes
Turn and face the strain
Ch-ch-Changes
Where's your shame
You've left us up to our necks in it
Time may change me
But you can't trace time

My Dad had a way of saying a lot with just a few words. When I would complain about the smallest change he would tell me, "It builds character." Once I became a teenager and figured it all out, my standard response became, "I think I have enough." Thankfully he repeated himself year after year. When I did not get accepted to my college of choice, the response was, "It builds character." When Donna and I were married and discovered that making almost no money meant we had to live in a crummy apartment, he repeated, "It builds character." When I struggled with my career, expecting the moon and the stars on day one, he told me, "It builds character." Over time, the saying became lodged into my brain to a point where I would tell myself, "my Dad always used to say..."

As I look back I have to laugh at some of the changes I used to be concerned with and those I celebrated. Sure, they may have been important at the time, but in the grand scheme of things they were insignificant. It wasn't until our first meeting with the CHOP team that I realized what the impact of change could really be. For the first time, I walked into a hospital as a parent and heard things parents never want to hear and saw things parents never want to see. Maddie's simple hair loss became Inclusion Body Myopathy leading to progressive muscle weakness and potentially life in a wheel chair. From that vantage point, changes took on a new meaning and even the smallest improvement was reason for celebration.

On December 10th, Donna and I joined the girls for their six month checkups at CHOP. During the four hour appointment the doctor, physical therapist, dietician, genetic counselor, occupational therapist, a few interns, and a representative from the MDA popped in and out to get updates on the girls. As usual, the girls were asked to perform a series of tests designed to measure changes. For example, our muscular neurologist tested their strength, completed muscle ultrasounds, and timed them as they ran sprints through the halls. The occupational therapist tested their fine motor skills, focusing on their daily tasks at school such as writing and typing; at home such as opening jars; and for Emma on the road as she is a few short weeks away from getting her driver's permit. I believe Emma had input on their report as the therapist explained how important it was that she receive an iPhone for Christmas. Hmmm. Finally, the physical therapist completed detailed strength tests focusing on a number of points including neck flexors, elbow flexors and hip flexors to compare the results vs. previous visits and standards for girls their age. Overall, the results showed improvement or stabilization depending on the test and their improvements from last summer.

Following our appointment, I had the good fortune to spend a few minutes with a friend sharing the events of our day. As I explained the appointment, he asked questions about the results, what they mean, and how they will impact their lives. For example, will their physical improvements now allow them to do gymnastics or become a starter on the softball team? As I started to explain I realized that people’s reference point is their own children and what they can do today (if they are still young) or once did (if they are now adults). Our reference point has shifted from what we once expected the girls to do physically (keep pace with Dad on a three mile run) to what we do today (run down a short hallway at CHOP for the doctor). We still have high expectations for the girls, but these have shifted from large physical changes to smaller ones.

During the conversation I also realized that while we share a lot on this blog, we have not focused much on the small changes we see and how important they are for the girls’ physical and mental health. Here are a few which I believe have built a little character.

- Emma and the milk carton: Before treatment, Emma could not carry the one gallon milk carton from the refrigerator to the kitchen island without using two hands. During the appointment she proudly informed the doctor that she can now do it with one hand. Sure this is only three feet, but it is her daily reminder that she has improved. This builds confidence day after day.

- Maddie and her neck: A year ago I helped Maddie stretch her muscles by pulling her across a six inch high foam roller while she lay on her back. As the roller past her neck, the back of her head hit the floor. I thought she was goofing around and asked her to pick it up. She said, "Daddy I can't." I then stabilized my daughter’s neck as she completed her stretch and felt a pain in my stomach. Is this what’s ahead for us? During our December appointment Maddie showed she cannot only lift her head, she can hold it up without support for 10 seconds.

- Maddie and the sit-ups: Before treatment, Maddie could not do one sit up. Doing sit ups may not be important as we get older, but for a little girl who sees others knock them out, the inability can be isolating. During her review with the doctor, Maddie proclaimed, “I can do three sit ups!”  Off she went to the floor, one, two, three, followed by cheers from the medical team.

2010 is coming to a close and will soon be in the rear mirror. As I look back over the year, I think about what we have overcome and what the year has brought for others. Some people saw great things such as new friends, new jobs, and new grandbabies. Others saw unemployment, loss of parents, and the deep pain that comes when you are told your child is seriously ill. My Dad faced more than a few changes in his time from new grandchildren, to children being seriously ill, and finally to succumbing from something none of us would have expected.  However, he remained positive.

While he is not physically here with us anymore, I know he is present each time the girls receive Lumizyme, each time they lift that milk carton, each time they hold up their necks, do sit-ups, and each time his son puts pen to paper to tell their story. If he was here, he would remind us that the good changes in 2010 can be seen in the girls’ faces as their smiles have returned, in their posture as they stand tall and strong, and in their souls as the character they have built through struggle has allowed them to believe in a brighter future. I guess he was right all along. While changes big or small can be tough to accept some times, in the end "It builds character."

Time may change me
But I can't trace time
I said that time may change me
But I can't trace time

All the best in 2011,
Matt

Credit: David Bowie, “Changes”

Saturday, December 11, 2010

Imagine

Imagine all the people
Living for today

Imagine all the people

Living life in peace 

You may say that I'm a dreamer
But I'm not the only one

It's not often that I think of life without Pompe anymore.  It is so woven into our daily lives that it seems like it has always been here.  I am used to helping Maddie with her violin case because it can become heavy, reminding Emma to be careful not to trip on the stairs, or watching Donna and the girls pack up and head out for yet another treatment. Pompe has become something which I never thought it would - - routine.  So, as I sat in New York City I was surprised to find myself thinking of life without it.

Last Wednesday night I attended a company Christmas dinner at Del Frisco's Steakhouse in New York City with about fifty of my co-workers.  As I sat in my chair overlooking the Avenue of the Americas to the left and the Fox News building on the right something caught my eye that I had missed in the morning's paper.  The news ticker read, "IMAGINE - 30th Anniversary of John Lennon's death".  Imagine.  

Here was a group of my co-workers spanning in ages from their 20s to their late 50's, evenly mixed between single and married, with children and without, and of all races and creeds.  Despite that mix, I guessed no more than three have ever heard the words Pompe Disease.  Other than my manager and a couple special people who I told in the early days, I've mostly kept Pompe out of the workplace.  I've kept it to myself so I did not have the burden of being constantly questioned about the girls and because I did not want people to carry the burden of always feeling they need to ask.  I've kept it to myself so I could concentrate on why I was there, to work.

So as I listened to my co-workers speak about their Christmas holiday plans, their families near and far, and their aspirations for 2011, I began to imagine.  I imagined what our life would be without Pompe and what their lives might be with it.  I imagined our life back in the days when everything was "fine" and how they would manage their lives with the worry of health insurance, the next doctor's visit, and how they would handle the constant chatter in a father's head about the future.  What would they do different than I, or better than I?  What could I learn from them?  Would they proclaim it from every mountaintop or keep it to themselves?

As the dinner wore on and fatigue took one victim after another, my imagination turned from those around me to the wonder of my kids.  I imagined what my kids would be doing years from today.  I imagined what affect Donna's day in and day out dedication to them would be carried when they become parents and grandparents.  I imagined how Emma's desire to become an advocate for rare disease would bear fruit.  I imagined how Maddie's wonderful personality would bring smiles to other kids at next year's MDA Camp and how Carter's strength as the middle child would keep their family bond together years and years down the road. And then I thought how lucky I am that the strength which should be in two girl's muscles has somehow found its way into their souls and has become an inspiration to many.  

So as I put on my coat and wrapped a scarf around my neck, I left my thoughts of life without Pompe behind and walked into the New York City cold humming...

You may say that I'm a dreamer
But I'm not the only one
I hope someday you'll join us
And the world will live as one

Happy Holidays!
Matt

Credit: John Lennon, "Imagine"

The IMAGINE memorial in the Strawberry Fields section of Central Park, NYC.

Friday, December 3, 2010

If I Needed Someone



If I needed someone
You're the one that I'd be thinking of
If I needed someone

If I had some more time to spend
Then I guess I'd be with you my friend
If I needed someone

Did you ever meet someone out of the blue and just know you would be great friends?  I'm not quite sure why this happens.  Perhaps it is because of shared experiences, similar interests, or in my case someone's ability to tell a great story which usually ends with a punch line I never expected. Whatever the reason, the good thing is that it happens and after that moment your life is a bit better.

Emma's Facebook page proves making friends is not a problem.  While all 369 of them are important, finding those special people with whom you can share your most private thoughts comes rarely.  Fortunately, she's been graced with a few who are so special we now consider them family.  They have traveled both smooth and rocky roads together and continue forward with inspiring dedication to each other.

That being said, her Pompe diagnosis was a game changer. Suddenly finding someone who has walked in her shoes became more important and more difficult.  You see, finding another with a rare disease is not as easy as it seems.  That was until the MDA Muscle Summit in October.  As we were gathering our things to leave, I turned and saw Emma talking with a group of kids. Before I knew it, a connection was made, a conversation started, and a friendship born. After a few short minutes, cell phones numbers were exchanged, promises to touch base online were made, and plans to get together cemented.

Since then there's been texts, phone calls, and even a short visit between the families which turned into hours of conversation over a good dinner and promises to see each other again soon.  Most importantly, she has found someone who understands like her parents never will. While at times it seems that we also have Pompe, the fact is we don't. She's found someone who feels what she feels, fears what she fears, and is inspired by what she's inspired by. So does this replace other friendships?  Not at all.  It just adds dimension to a life filled with so much more. 

So why did this friendship happen out of the blue?  Would it have happened without the MDA? I'm still not sure and it doesn't matter.  What matters is that if you keep your mind and heart open you never know when your next friendship may be born.  And, what matters most is that when my daughter needed someone it did happen and since that moment her life has been a bit better.

Had you come some other day
Then it might not have been like this

All the best,
Matt

Credit: The Beatles, "If I Needed Someone"

Friday, November 19, 2010

In The End - Happy Anniversary


And in the end
The love you take
Is equal to the love you make

November 18, 2010 is our anniversary.  It is one year after we received Maddie's diagnosis of Pompe disease.  Over the past of couple months I've thought a lot about this day and what it means to us.  I discovered it means much more than a medical milestone and much more than what a Hallmark anniversary card can cover. 

It means “family” because without the five of us relying on each other, with the support from our family in California and Oregon we would not be in this place today.  It means “advocacy” because by being our girls’ advocates it’s been possible for them to see the best doctors and get the best treatments.  It means “courage and inspiration” because our girls have shown us how inspiring real courage can be.  It means “friendship” because of those who have stood by us when times were tough.  But, above all else it means “love” because of what we've learned about its power in our lives. 

We've learned that love for your children can give you strength you never imagined possible.  We've learned that love from your children can fill you up like never anticipated. We've learned that love between your children keeps them together and binds their commitment to each other.  And, we've learned that love from those around you can humble and surprise you each and every day.  

One of my favorite holiday movies is, "It's A Wonderful Life".  It's the story of George Bailey who sets aside his dreams and ambitions to run his family business when his father passes away. In doing so, he helps those who need a little help here and a little help there.  When George hits financial trouble and sees only despair, he meets his guardian angel and is allowed to see how things would be if he was never born.  While he expects everyone would have been better off without him, he finds the opposite.  He finds that his little impact on each and every life was invaluable.  At the end of the movie, George returns to his family to find everything is just as he left it.  He is still facing trouble and expects to be arrested any moment, but is overwhelmed with the joy of being alive and with the ones he loves.  Suddenly, one by one, people George has helped over the years arrives at his door to help their friend in need.  Despite their own financial limitations they give George what they can, out of love. 

So what does the story of George Bailey have to do with the Crowleys? One year ago we stood in our home after a long drive from CHOP feeling more alone than ever.  We wondered what the future would bring and how we found ourselves in such a predicament.  And then, day by day, week by week, and month by month our guardian angel lead people into our lives with cards, meals, hugs, open ears and open hearts.  Some we knew well, while others were strangers.  What they all had in common was why they came.  It was love.

Now I’m not going to place myself in the same status of George Bailey because I don’t believe I will ever have the impact on people’s lives that he did, but I do believe I’ve seen the blessings of guardian angels over the past year.  They are in the gentle words of a doctor, the new long distance Facebook connections, the smiling faces at CHOP’s Day Medicine, the helpful text when you’re feeling low, and a lovely meal after a long day at treatment.

So in the end, if we could go back and change what we heard that day at CHOP, I would do so in a New York minute, but this is not a Hollywood movie.  I cannot guarantee a happy ending with Pompe. However, I can guarantee that the positive experiences of this past year outweigh the negatives.  Where one year ago we stood feeling alone, today we stand together, with many others, emboldened and confident for the future.  And this is because of love.

Happy Anniversary Maddie!  We are so proud of you!!

All for two and two for all!
Matt

Credit: The Beatles, "In The End"

Sunday, November 14, 2010

Clowns to the left of me, jokers to the right

Well, I don't know why I came here tonight

I got a feelin' that something ain't right

I'm so scared in case I fall off my chair

And I'm wonderin' how I'll get down those stairs

Clowns to left of me, jokers to the right

Here am I stuck in the middle with you



Yes, I'm stuck in the middle with you

And I'm wonderin' what it is I should do

It's so hard to keep this smile from my face

Losin' control, I'm all over the place

Clowns to left of me, jokers to the right

Here am I stuck in the middle with you

All the signs were there, but I tried to ignore them.  The warm days of summer turned blustery, the school buses suddenly appeared, the leaves turned colors, and the radio started to play songs about a big jolly man in a funny red suit.  Yes, it's Open Enrollment season.  

Open Enrollment is that special time of year when companies give their employees the opportunity to make health care choices for the upcoming year.  It's also the time of year you receive finely wrapped packages filled with numerous full color brochures all with the same two messages.  The cost of health care has increased again and the options are more confusing then ever so good luck!

Don't get me wrong.  My company does a nice job informing employees through a mix of brochures, websites, internal meetings and help lines.  However, they don't quite have the system optimized for those of us with "special" insurance needs so it takes a bit more expertise to navigate through the information.  Last year at this time we still had not received Maddie's diagnosis, but knew something was up, so we played it cautious and chose a plan that came with platinum frequent flyer status.  

All in all it worked well, but I wanted to make sure it was still the best deal moving forward.  As there were a couple new options this year I called our company support desk and asked them all the usual questions about deductibles, coverage, and doctor choices.  The operator did such a great job answering the usual questions I thought it was safe to throw her a curve ball.  I don't like to advertise the complexity and cost of the girls' treatments within my company so it went something like this. "Let's say someone had to get infusion therapy once in a while and it was expensive...say $10,000 each time.  Would that be covered?"  The response was, "Well, that's interesting.  Let me see.  Perhaps you should call the insurance company directly."  

I was hoping to avoid this, but picked up the phone and called the insurance company anyway.  After weaving through layer after layer of the automated answering system I finally made it to a real person.  I exchanged a few niceties and launched into my question as clear and detailed as possible.  Suddenly, the real person began to speak through some kind of automated voice machine.  "Thank you for calling XYZ Insurance.  Our ABC and DEF plans offer competitive coverage and the best service to our customers."  Hello?  Is there a real person there?  Hello?  She started again, "Thank you for calling XYZ ..."  I hung up.

So there I sat with clowns to left of me and jokers to the right.  Stuck in the middle.  And then I remembered to call Lynda.  Genzyme has a Care Coordination program, which assigns a Case Manager to each family receiving one of its therapies.  Ours is Lynda.  She has been a great help over the past months as we meandered our way through the maze of hospitals, insurance coverage and payments.  After one short discussion with Lynda, she called the insurance company, confirmed our coverage, identified the options, and helped me with the decision.  Once again Genzyme proved they are different.  When you feel alone, they are there to support.  When you need advice, their experts are ready to help.  And, when all you find are clowns to left of you and jokers to the right, you are happy they are stuck in the middle with you.

Thanks again to Lynda and the whole team at Genzyme!
Matt    

Credit: Stealer's Wheel, "Stuck In The Middle With You"

Sunday, October 24, 2010

Blackbird

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,
Matt

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 (http://www.chromosome18.org/) 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"



Tuesday, September 21, 2010

Heroes

I, I will be king

And you, you will be queen

Though nothing will drive them away

We can beat them, just for one day

We can be heroes, just for one day



Though nothing, will keep us together

We could steal time, just for one day

We can be heroes, forever and ever

What d'you say?

When I was younger the word hero seemed to be more in style.  I had heroes all around.  They were Dr. J of the Sixers who could slam dunk like no other, the astronauts heading off into space, my father who was able to fix anything personal or material, the fireman who came to visit our school, and the entire Justice League.  Green Lantern was my favorite, but I don't remember if it was because of his cool ring and outfit or because my older brothers already chose the other ones.  (Sorry for the Super Hero diversion, back to the subject.)  Today, the "Hero" title seems tougher to achieve.  While many of us agree that the firemen who raced into the World Trade Center and the men and women fighting overseas are heroes they tend to shy away from the title.  Perhaps because they just don't see themselves that way.  They are just doing their job.

So, what does the word HERO mean to you?  The beauty is there is no right answer.  It is an individual choice based on your experience which may evolve over time.  Some heroes come and go and some heroes are here to stay.  When asked to write a paper on the subject, Emma composed the following. I wanted to share it with you because you have not heard about this experience in her words and because I think these heroes are here to stay.


--------------------
Emma: September 2010
My idea of a hero differs from others. Many people say their heroes are celebrities or sports players and though I do have those, I have other heroes also. These heroes have affected my life without even knowing it. They are just people going throughout their lives but have changed mine forever.

Last February, I was diagnosed with Pompe’s disease along with my sister, Madeline. Pompe’s disease is an extremely rare, genetic, progressive, degenerative muscular disease. Though the news was devastating, Maddie and I were determined not to let it stop us from doing anything we wanted to do. Through the tears of both happiness and sadness, I came across my real heroes. To them I am just a client, or a patient, or someone they work for and though they may forget me over time, I know I will never forget them.

The first person is David O’Connor. Along with being my Genzyme representative, he is also a deacon and with his spirituality, he can turn anything around and make it positive. He has such a caring heart and helping people with disabilities is his passion.

The next person is Kate Carpenter. She is my child life specialist and has become one of my closest friends. Though on paper Kate is supposed to entertain me while I get my treatments, she is so much more than that. Kate radiates happiness and humor, which makes my treatments so much easier.

The last person is Dr. Carsten Bonneman. Dr. Bonneman was not my doctor for long, but during the time I was his patient, he really was an inspiration. Pompe is his passion and when I am with him I do not feel like a patient, but like a friend. 

All in all, Pompe has changed my life in ways I never imagined, but I would never change it. It has led me to these fantastic people. 
--------------------

Well said Emma.  I agree 100%.  Each and every interaction I've had with these three people has left me with a warm heart knowing that we are blessed to be in Philadelphia and blessed to have found CHOP.  They are heroes, but like others they don't see themselves that way.  They are just doing their job.  Today you learn that they are more, much more.

So at age 41 who are my heroes?  I've been fortunate enough to meet some great people in my days, but after all this time I realize no one comes close to my three kids.  Their strength, conviction, and love for each other is inspiring.  While some heroes may come and go, they are here to stay.

We can be heroes

We can be heroes

We can be heroes

Just for one day

Keep up the fight!
Matt Crowley

Credit to: David Bowie "Heroes"

Friday, September 3, 2010

All Together Now




One, two, three, four
Can I run a little more?
five, six, seven eight nine ten miles I love you.

A, B, C, D
Can you run along with me?
E, F, G, H, I, J, I love you.

Boom, bam, boom,
Ooh my hip,
Boom, bam, boom,
There goes my knee,
Boom, bam, boom,
The finish line,
Boom, bam, boom,
Look at me!

All together now, All together now,
All together now, All together now,
All together now, All together now...

I'm a runner. All the signs are there... running shoes littering the garage, worn out 5K race t-shirts in the closet, the occasional aching knees, and the wish that maybe one day the passion to run a marathon will appear.

Sometimes after miles and miles on the road I've wondered why I run. Seriously, why do people purposely leave the comfort of their sofa to find themselves miles from home with only a pair of worn out sneakers to get them back? Perhaps part of the reason is the adventure, part is to lose a few pounds, part is for therapy, or maybe part is also for something much more important. Maybe it's a way to prepare yourself for that noble moment when you decide to sacrifice yourself for the benefit of others.

That special moment came to my nephew and niece earlier this year when they decided to help two girls for whom running is no longer an option. Sure they can run from home plate to first base and maybe from one side of a soccer field to another, but never in a 5K, never in a marathon. You see, while Pompe does not limit their beautiful minds, it does limit their ability to complete some physical activities. Their muscles just are not strong enough and even if they struggled, the pain at the end is not worth it. There are many more ways for them to shine.

Knowing all this, my nephew and niece set off with a goal to raise money for Pompe Disease. They picked a race, started to train, convinced a few family members to join, and set off on their Long and Winding Road to race day. For several months they followed their program, running day after day, while spreading the word about the event. On August 15th, five members of my family ran in the San Diego Half Marathon. For 13.1 miles they ran All Together Now in love for two girls who mean so much to them. The race was a great success with money coming in from California to Pennsylvania to Canada resulting in over $2400 for the AMDA.

So why do I run? For years as I pounded the pavement I was not sure, but now I know. I run for those who can't run because of this crazy disease. And, I run for the hope that maybe one day I too will be prepared to follow in the footsteps of five mighty ones before me who sacrificed themselves for the benefit of others.

We remain All Together Now... All For Two And Two For All!

With eternal thankfulness,
Uncle Matt

Credit to: The Beatles, "All Together Now"

Here's a few photos from the event.


The shirts







The runners showing off their race medals!



The runners and their support team.





Monday, August 23, 2010

You Never Give Me Your Money / I've Got A Golden Ticket

Yesterday we received a letter from our insurance company detailing the costs for last month's Lumizyme treatments.  As I looked down at the amount we owe now that we've met our deductible, I reached for my insurance card, grabbed Maddie's hand, and became Grandpa Joe from Willy Wonka and the Chocolate Factory dancing and singing away to...

I never thought my life could be
Anything but catastrophe
But suddenly I begin to see
A bit of good luck for me

'Cause I've got a golden ticket
I've got a golden twinkle in my eye

I never had a chance to shine
Never a happy song to sing
But suddenly half the world is mine
What an amazing thing

'Cause I've got a golden ticket

I've got a golden sun up in the sky

And then I started to wonder what the insurance claims specialist must think when they receive yet another invoice from CHOP for those darn Crowley girls.  I imagine it goes something like this...

You never give me your money
You only give me your funny paper
and in the middle of negotiations
you break down

I never give you my number
I only give you my situation
and in the middle of investigation
I break down

It's clear that this little thing called Pompe Disease, like many struggles in one's life, can be viewed in different ways.  It can weigh you down, force you to question everything, embolden you to fight, or make you sing and dance.  While we have faced many feelings along the way, today Maddie and I were glad to be on the side of Grandpa Joe. 

'Cause I've got a golden ticket
I've got a golden chance to make my way
And with a golden ticket, it's a golden day

All the best,
Matt

Credit to:
Roald Dahl, "I've Got A Golden Ticket"
The Beatles, "You Never Give Me Your Money"

Thursday, August 19, 2010

The Fork in the Road

The AMDA publishes a regular newsletter and contacted us for an article about our experience. Many of you already know the story, but I thought you might be interested.

As a younger man I drove the finely paved Los Angeles freeways with ease. Like millions of others, I merged in and out of traffic, easily transferring from one on-ramp to the next at a speed only matched by the pace of city life. Everyone around seemed to follow the same path, eyes on the road, never stop to look around, and never look back. 
 


Every so often I would notice a strange sight at a fork in the road. A car would have crashed right into the divider between one freeway and another. Why did this happen? Was it because the person was not paying attention, were not sure which direction to go, or were they frozen when forced to make a choice they weren’t prepared for? Whatever the reason I admit I always drove by with a bit of confusion and a bit of humor. After all, doesn’t everyone know which direction they’re going?
 


Since those days in LA, I met my wife, was married, had three beautiful children, and headed off onto the freeway toward a normal life. On November 18, 2009 we crashed full speed into that fork in the road. We were not driving. We were sitting in the Muscular Neurology office at Children’s Hospital of Philadelphia. On that day we learned our youngest daughter Madeline was diagnosed with something called Pompe Disease. We had no idea what this was and were immediately humbled by the story coming from the doctors.
 


Over the following months, buoyed by the support from family and friends, we grew to better understand what we were facing and even regain a positive view on the future, even if it was to be different than we expected. We started a blog to share our story, built relationships with other Pompe patients and parents, and pondered how we could make a difference. That was until February 10, 2010 when that fork appeared again and we learned that our eldest daughter Emma was also diagnosed. Words could not express the shock and sadness we felt at that moment. 
 
Just as we were trying to understand and deal with the news, something happened that picked us up.

Three days after learning she had the Pompe Disease, Emma’s Facebook post changed to the line “Then you begin to make it better” from The Beatles song Hey Jude. While Donna and I were still trying to put one foot in front of the other, Emma was ready to fight. Looking back, I shouldn't have been surprised by her strength and conviction, but reading the post still brought tears of joy to my eyes.
 


In August 2010 are we back on that freeway speeding away toward a normal life? No. We made the choice to take that unpaved fork in the road and embark on our Pompe journey with positive hearts and a fighting spirit. To our surprise, that car of ours has become a bus filled with members from the Pompe community, CHOP, Genzyme, and a support network of family and friends which continues to amaze us.
 
So while we’ve learned that speeding to the destination may be valuable for some, we found the road less traveled, while frightening and hard on the soul, can be more beautiful than ever imagined. 


Thanks for sharing the ride with us,
Matt

Sunday, August 1, 2010

California Dreaming

All the leaves are brown,
And the sky is grey,
I've been for a walk,
On a winter's day

I'd be safe and warm,
If I was in L.A.,
California Dreamin'
On such a winter's day

Last Sunday, Emma boarded a plane to Sunny California with my sister and niece. She is having a great time enjoying the So Cal beaches, great Mexican food, San Diego, shopping, Los Angeles, In-N-Out Burger, Santa Barbara, and most important...family. On Tuesday she'll take her first flight alone and be home just in time for treatment.

On August 1st last year we had just returned home from two great weeks in California topped off by my nephew's wedding in Santa Barbara. To remember the trip I sat down with Donna and created a video to share some great photos from our vacation. This was before we knew anything about muscle biopsies, genetic testing, Pompe disease, or Myozyme. It was also before this blog, our wonderful doctors, and the love and support of many friends.



video




Yesterday, Emma attended a baby shower for that same nephew's bride.  Although I've never been to a baby shower, I am confident the room was filled not only with little sandwiches and cake, but also with the excitement only a new child can bring and talk of a wonderful future for the new family.


Another year has past and as usual it will end with disappointment for some and joy for others.  Despite all the craziness this past year has brought us, I'll choose the side of joy.  I do so because regardless of Pompe I know our kids would still be out in my brother's yard today dancing with smiles on their faces and California Dreamin' in their hearts.


Where's the sunscreen?
Matt


Credit to: Mamas and The Papas, "California Dreaming"